Expert Commentary

The Centers for Medicare and Medicaid Services (CMS) developed the National Correct Coding Initiative (NCCI) to promote national correct coding methodologies and to control what it considers to be duplicative and improper coding of multiple procedures performed in a single setting in Part B claims.

Since 1996, Medicare has used NCCI edits to limit additional payments for two procedures that were thought to be similar because of anatomic and temporal considerations. For example, billing for both lysis of adhesions and total abdominal hysterectomy in the same operation has long been denied, as preoperative and postoperative care typically are the same and the intraservice times are not appreciably different. Both require opening and closing of the same incision, and so on.

The most recent set of NCCI edits, effective October 1, 2014, “bundles” procedures for high uterosacral vaginal vault suspension (also known as vaginal colpopexy—intraperitoneal approach—CPT code 57283) and combined colporrhaphy (code 57260) when they are performed at the same time as a vaginal hysterectomy. Previously, these procedures could be billed together and separately paid for by Medicare, although the additional procedures were subjected to a -51 modifier, designating multiple procedures, which reduced the payment for them by approximately 50%.

How the NCCI makes its determinations
The NCCI develops coding policies, or “edits,” by analyzing coding conventions and reviewing standard medical and surgical practices. It reviews current coding practices and guidelines developed by national societies, such as the American College of Obstetricians and Gynecologists (ACOG), but the NCCI has the power to decide what surgical procedures get “bundled” with other procedures that commonly are performed in the same setting. As a general rule, the NCCI feels that procedures performed through the same incision, in close anatomic proximity, and by the same surgeon should not be billed separately. The NCCI develops and implements its coding edits on a quarterly basis, after notifying the medical societies most likely to be affected by the new bundles and soliciting feedback.

As gynecologic surgeons, we are familiar with the multitude of bundles that already exist for abdominal and laparoscopic procedures—lysis of adhesions, ureterolysis, abdominal enterocele repair, removal of both tubes and ovaries (as opposed to unilateral salpingo-oophorectomy)—which have been around for decades. However, until recently, vaginal surgical procedures were not bundled but were billed “a la carte.”

Because the October 1 edits deny separate payment when combined colporrhaphy and high uterosacral vaginal vault suspension are performed alongside vaginal hysterectomy, gynecologic surgeons now get paid only for the vaginal hysterectomy. These edits are likely to have a profound impact on practicing vaginal surgeons, especially subspecialists in female pelvic medicine and reconstructive surgery.

Procedures that can no longer be billed when performed at the same time as a vaginal hysterectomy include:

• combined anterior and posterior colporrhaphy (code 57260)
• abdominal sacrocolpopexy (57280)
• extraperitoneal vaginal colpopexy (eg, sacrospinous ligament suspension, or SSLS, 57282)
• intraperitoneal vaginal colpopexy (eg, high uterosacral ligament suspension, 57283)
• abdominal paravaginal repair (57284).

For a full version of current edits, see the CMS Web site at www.cms.gov/Medicare/Coding/NationalCorrectCodInitEd/NCCI-Coding-Edits.html.

AUGS, ACOG, and others respond to the edits
Since implementation of the ­October 1 edits, both ACOG and the American Urogynecologic Society (AUGS) have received numerous complaints and protests from members. Both societies reviewed and strongly disagreed with the proposed edits before their implementation, but NCCI ultimately decided to implement them.

In cooperation with ACOG and several other national medical societies, such as the Society for Gynecologic Surgeons and the Society of Urodynamics, Female Pelvic Medicine and Urogenital Reconstruction, AUGS formed a task force that already has engaged CMS in a series of communications focused on changing or reversing some of these edits.

This task force, under the leadership of AUGS, believes that CMS and NCCI do not fully understand the complexity of vaginal reconstruction performed for advanced pelvic organ prolapse, or the fact that vaginal hysterectomy is an extirpative procedure that often is required to facilitate the more time-consuming reconstructive procedures. Furthermore, the reconstructive procedures require separate entry and closure of different surgical spaces (eg, rectovaginal, vesicovaginal). In addition, the surgical risks and postoperative care often are more complex than they are when a simple vaginal hysterectomy is performed for benign gynecologic indications other than pelvic organ prolapse.

Thus far, both NCCI and CMS have listened to our objections, indicated that they understand them, and agreed to reexamine the appropriateness of the bundles. As of press time, however, CMS has not announced any plans to change or reverse any of these edits.

The October 1 edits are not the only ones that adversely affect the gynecologic surgeon. As of ­January 1, 2015, NCCI and CMS implemented another set of edits that no longer allow separate billing and reimbursement for cystoscopy (52000) performed at the time of pelvic surgery, when the purpose of the procedure is to assure the surgeon that the ureters and urinary bladder are free of injury. However, cystoscopy may be billed separately when the primary purpose differs from that scenario.

ACOG and AUGS intend to stay in discussion with CMS regarding the appropriateness of the most recent edits. If any edits are reversed, the decision will be retroactive to the October 1, 2014, date. Stay tuned for the final decision. 

Share your thoughts on this article! Send your Letter to the Editor to [email protected]. Please include your name and the city and state in which you practice.

The Centers for Medicare and Medicaid Services (CMS) developed the National Correct Coding Initiative (NCCI) to promote national correct coding methodologies and to control what it considers to be duplicative and improper coding of multiple procedures performed in a single setting in Part B claims.

Since 1996, Medicare has used NCCI edits to limit additional payments for two procedures that were thought to be similar because of anatomic and temporal considerations. For example, billing for both lysis of adhesions and total abdominal hysterectomy in the same operation has long been denied, as preoperative and postoperative care typically are the same and the intraservice times are not appreciably different. Both require opening and closing of the same incision, and so on.

The most recent set of NCCI edits, effective October 1, 2014, “bundles” procedures for high uterosacral vaginal vault suspension (also known as vaginal colpopexy—intraperitoneal approach—CPT code 57283) and combined colporrhaphy (code 57260) when they are performed at the same time as a vaginal hysterectomy. Previously, these procedures could be billed together and separately paid for by Medicare, although the additional procedures were subjected to a -51 modifier, designating multiple procedures, which reduced the payment for them by approximately 50%.

How the NCCI makes its determinations
The NCCI develops coding policies, or “edits,” by analyzing coding conventions and reviewing standard medical and surgical practices. It reviews current coding practices and guidelines developed by national societies, such as the American College of Obstetricians and Gynecologists (ACOG), but the NCCI has the power to decide what surgical procedures get “bundled” with other procedures that commonly are performed in the same setting. As a general rule, the NCCI feels that procedures performed through the same incision, in close anatomic proximity, and by the same surgeon should not be billed separately. The NCCI develops and implements its coding edits on a quarterly basis, after notifying the medical societies most likely to be affected by the new bundles and soliciting feedback.

As gynecologic surgeons, we are familiar with the multitude of bundles that already exist for abdominal and laparoscopic procedures—lysis of adhesions, ureterolysis, abdominal enterocele repair, removal of both tubes and ovaries (as opposed to unilateral salpingo-oophorectomy)—which have been around for decades. However, until recently, vaginal surgical procedures were not bundled but were billed “a la carte.”

Because the October 1 edits deny separate payment when combined colporrhaphy and high uterosacral vaginal vault suspension are performed alongside vaginal hysterectomy, gynecologic surgeons now get paid only for the vaginal hysterectomy. These edits are likely to have a profound impact on practicing vaginal surgeons, especially subspecialists in female pelvic medicine and reconstructive surgery.

Procedures that can no longer be billed when performed at the same time as a vaginal hysterectomy include:

• combined anterior and posterior colporrhaphy (code 57260)
• abdominal sacrocolpopexy (57280)
• extraperitoneal vaginal colpopexy (eg, sacrospinous ligament suspension, or SSLS, 57282)
• intraperitoneal vaginal colpopexy (eg, high uterosacral ligament suspension, 57283)
• abdominal paravaginal repair (57284).

For a full version of current edits, see the CMS Web site at www.cms.gov/Medicare/Coding/NationalCorrectCodInitEd/NCCI-Coding-Edits.html.

AUGS, ACOG, and others respond to the edits
Since implementation of the ­October 1 edits, both ACOG and the American Urogynecologic Society (AUGS) have received numerous complaints and protests from members. Both societies reviewed and strongly disagreed with the proposed edits before their implementation, but NCCI ultimately decided to implement them.

In cooperation with ACOG and several other national medical societies, such as the Society for Gynecologic Surgeons and the Society of Urodynamics, Female Pelvic Medicine and Urogenital Reconstruction, AUGS formed a task force that already has engaged CMS in a series of communications focused on changing or reversing some of these edits.

This task force, under the leadership of AUGS, believes that CMS and NCCI do not fully understand the complexity of vaginal reconstruction performed for advanced pelvic organ prolapse, or the fact that vaginal hysterectomy is an extirpative procedure that often is required to facilitate the more time-consuming reconstructive procedures. Furthermore, the reconstructive procedures require separate entry and closure of different surgical spaces (eg, rectovaginal, vesicovaginal). In addition, the surgical risks and postoperative care often are more complex than they are when a simple vaginal hysterectomy is performed for benign gynecologic indications other than pelvic organ prolapse.

Thus far, both NCCI and CMS have listened to our objections, indicated that they understand them, and agreed to reexamine the appropriateness of the bundles. As of press time, however, CMS has not announced any plans to change or reverse any of these edits.

The October 1 edits are not the only ones that adversely affect the gynecologic surgeon. As of ­January 1, 2015, NCCI and CMS implemented another set of edits that no longer allow separate billing and reimbursement for cystoscopy (52000) performed at the time of pelvic surgery, when the purpose of the procedure is to assure the surgeon that the ureters and urinary bladder are free of injury. However, cystoscopy may be billed separately when the primary purpose differs from that scenario.

ACOG and AUGS intend to stay in discussion with CMS regarding the appropriateness of the most recent edits. If any edits are reversed, the decision will be retroactive to the October 1, 2014, date. Stay tuned for the final decision. 

Share your thoughts on this article! Send your Letter to the Editor to [email protected]. Please include your name and the city and state in which you practice.

The Centers for Medicare and Medicaid Services (CMS) developed the National Correct Coding Initiative (NCCI) to promote national correct coding methodologies and to control what it considers to be duplicative and improper coding of multiple procedures performed in a single setting in Part B claims.

Since 1996, Medicare has used NCCI edits to limit additional payments for two procedures that were thought to be similar because of anatomic and temporal considerations. For example, billing for both lysis of adhesions and total abdominal hysterectomy in the same operation has long been denied, as preoperative and postoperative care typically are the same and the intraservice times are not appreciably different. Both require opening and closing of the same incision, and so on.

The most recent set of NCCI edits, effective October 1, 2014, “bundles” procedures for high uterosacral vaginal vault suspension (also known as vaginal colpopexy—intraperitoneal approach—CPT code 57283) and combined colporrhaphy (code 57260) when they are performed at the same time as a vaginal hysterectomy. Previously, these procedures could be billed together and separately paid for by Medicare, although the additional procedures were subjected to a -51 modifier, designating multiple procedures, which reduced the payment for them by approximately 50%.

How the NCCI makes its determinations
The NCCI develops coding policies, or “edits,” by analyzing coding conventions and reviewing standard medical and surgical practices. It reviews current coding practices and guidelines developed by national societies, such as the American College of Obstetricians and Gynecologists (ACOG), but the NCCI has the power to decide what surgical procedures get “bundled” with other procedures that commonly are performed in the same setting. As a general rule, the NCCI feels that procedures performed through the same incision, in close anatomic proximity, and by the same surgeon should not be billed separately. The NCCI develops and implements its coding edits on a quarterly basis, after notifying the medical societies most likely to be affected by the new bundles and soliciting feedback.

As gynecologic surgeons, we are familiar with the multitude of bundles that already exist for abdominal and laparoscopic procedures—lysis of adhesions, ureterolysis, abdominal enterocele repair, removal of both tubes and ovaries (as opposed to unilateral salpingo-oophorectomy)—which have been around for decades. However, until recently, vaginal surgical procedures were not bundled but were billed “a la carte.”

Because the October 1 edits deny separate payment when combined colporrhaphy and high uterosacral vaginal vault suspension are performed alongside vaginal hysterectomy, gynecologic surgeons now get paid only for the vaginal hysterectomy. These edits are likely to have a profound impact on practicing vaginal surgeons, especially subspecialists in female pelvic medicine and reconstructive surgery.

Procedures that can no longer be billed when performed at the same time as a vaginal hysterectomy include:

• combined anterior and posterior colporrhaphy (code 57260)
• abdominal sacrocolpopexy (57280)
• extraperitoneal vaginal colpopexy (eg, sacrospinous ligament suspension, or SSLS, 57282)
• intraperitoneal vaginal colpopexy (eg, high uterosacral ligament suspension, 57283)
• abdominal paravaginal repair (57284).

For a full version of current edits, see the CMS Web site at www.cms.gov/Medicare/Coding/NationalCorrectCodInitEd/NCCI-Coding-Edits.html.

AUGS, ACOG, and others respond to the edits
Since implementation of the ­October 1 edits, both ACOG and the American Urogynecologic Society (AUGS) have received numerous complaints and protests from members. Both societies reviewed and strongly disagreed with the proposed edits before their implementation, but NCCI ultimately decided to implement them.

In cooperation with ACOG and several other national medical societies, such as the Society for Gynecologic Surgeons and the Society of Urodynamics, Female Pelvic Medicine and Urogenital Reconstruction, AUGS formed a task force that already has engaged CMS in a series of communications focused on changing or reversing some of these edits.

This task force, under the leadership of AUGS, believes that CMS and NCCI do not fully understand the complexity of vaginal reconstruction performed for advanced pelvic organ prolapse, or the fact that vaginal hysterectomy is an extirpative procedure that often is required to facilitate the more time-consuming reconstructive procedures. Furthermore, the reconstructive procedures require separate entry and closure of different surgical spaces (eg, rectovaginal, vesicovaginal). In addition, the surgical risks and postoperative care often are more complex than they are when a simple vaginal hysterectomy is performed for benign gynecologic indications other than pelvic organ prolapse.

Thus far, both NCCI and CMS have listened to our objections, indicated that they understand them, and agreed to reexamine the appropriateness of the bundles. As of press time, however, CMS has not announced any plans to change or reverse any of these edits.

The October 1 edits are not the only ones that adversely affect the gynecologic surgeon. As of ­January 1, 2015, NCCI and CMS implemented another set of edits that no longer allow separate billing and reimbursement for cystoscopy (52000) performed at the time of pelvic surgery, when the purpose of the procedure is to assure the surgeon that the ureters and urinary bladder are free of injury. However, cystoscopy may be billed separately when the primary purpose differs from that scenario.

ACOG and AUGS intend to stay in discussion with CMS regarding the appropriateness of the most recent edits. If any edits are reversed, the decision will be retroactive to the October 1, 2014, date. Stay tuned for the final decision. 

Share your thoughts on this article! Send your Letter to the Editor to [email protected]. Please include your name and the city and state in which you practice.

LAS VEGAS – In the clinical opinion of Dr. Andi L. Shane, tuberculin skin testing and interferon gamma release assay diagnostics and surveillance for Mycobacterium tuberculosis infection are game-changers in the ongoing effort to reduce the rates of TB infection nationwide.

“From 1982 to 2013, we’ve had a very nice decline in the number of TB cases. However, we still have quite a bit of work to do,” Dr. Shane said at a pediatric update sponsored by the American Academy of Pediatrics California District 9.

Reported case rates are especially high in California, Nevada, Texas, Florida, New York, Washington, New Jersey, and the District of Columbia. By age group, those under 5 years old and those aged 15-24 years are more likely to be affected.

“It’s really important to identify TB as soon as possible, especially in children,” said Dr. Shane of the department of pediatrics, division of infectious diseases, Emory University, Atlanta. “An interferon gamma release assay (IGRA) or a tuberculin skin test (TST) may be used in situation where assessment for MTB [M. tuberculosis] exposure is indicated. IGRA is preferred in persons who received BCG vaccine and who have low rates of test completion, while TST is preferred for testing of children younger than age 5.”

TB disease in people younger than age 15 years is a marker for transmission of TB, usually from an adult. “So when we identify a case of TB in children, that requires a contact investigation,” she said. “We’re more concerned with children under the age of 5 with TB because they are more likely to have disseminated disease.”

Latent TB means that the patient has been exposed to the disease but that his or her body has been able to control the infection; no systemic manifestations of infection are present. “It’s very important to identify the difference between latent tuberculosis infection (LTBI) and actual tuberculosis disease,” she said. “This is one of the most challenging aspects to explain to families when you’re giving your diagnosis. The reason this is important is that children or adults who have LTBI are not infectious to other people, whereas someone who has pulmonary or laryngeal TB is considered to be an infectious risk to other individuals.”

Dr. Shane went on to discuss limitations of the TST in diagnosing TB. For one, the test may be placed incorrectly, resulting in an inflammatory response or no response, “and there is reader variability,” she said. “The other issue is that the reading needs to occur 48-72 hours after placement of the test. So, if you place it on a Thursday, that means you really are not going to read it at the optimal time unless the child comes to you on a weekend or the test is read by somebody else.”

As an alternative, two IGRAs have been developed that measure how the immune system reacts to MTB. One is QuantiFERON, which is widely used in the United States; the other is the T-SPOT.TB test, which is widely used in Europe. A positive result on either test indicates that there has been interaction with MTB bacteria but it does not differentiate between LTBI and active TB disease.

“A negative IGRA tells you there is no reaction to the test and MTB is not likely, while an indeterminate result is when you’re unable to interpret the result due to low positive [mitogen] or increased negative control [nil] compared to TB response,” Dr. Shane said. “This usually indicates that there’s some problem with the assay itself. It can also indicate that the individual may not have an immune system that can respond to and produce the interferon gamma that’s needed.”

Assessment of IGRA accuracy is challenged by a lack of a standard for the diagnosis of LTBI and active TB, especially in children. “The reason is, we just don’t have a lot of good data from resource-endowed settings,” Dr. Shane explained. “We have good data from areas where TB is prevalent.” According to the Centers for Disease Control and Prevention and the AAP, IGRAs are probably reliable in children over the age of 5 years, but a TST is still recommended in children under the age of 5.

“The nice thing about the IGRAs is that their specificity is much higher” than TSTs, Dr. Shane said. “However, in some cases a TST might be more sensitive for detecting more remote MTB infections than an IGRA, but IGRAs may be better at detecting a recent infection. Like the TST, an IGRA also shows that if you’re infected with TB you have 5-10% chance of developing active TB in your lifetime.”

She also pointed out that a significant amount of blood is required to perform an IGRA. “That might not always be optimal, especially in a young child,” Dr. Shane said. “Low CD4 counts and other immunodeficiencies have also been associated with false-negative TST and indeterminate/false-negative IGRA results.”

For contact investigations, IGRAs offer increased specificity, are completed during a single visit, and their response is not boosted if an additional evaluation is needed 8-10 weeks after exposure. For periodic screening of health care workers, IGRA offers “technical and logistical advantages, and two-step testing is not required,” she said.

If the TST or IGRA is positive, additional diagnostic efforts are needed “to differentiate between LTBI and active MTB,” said Dr. Shane, who recommended the Curry International Tuberculosis Center as a resource for clinicians. “Your clinical history, chest radiography, [and results of] sputum/gastric aspirates will help,” she added.

If the TST or IGRA is negative, “it’s not sufficient to exclude MTB infection. If you have a discordant TST and IGRA result, consider history and epidemiologic risk factors. Treat with clinical suspicion or risk of a poor outcome (those younger than age 5 and those infected with HIV).”

Dr. Shane reported having no relevant financial disclosures.

[email protected]

On Twitter @dougbrunk

LAS VEGAS – In the clinical opinion of Dr. Andi L. Shane, tuberculin skin testing and interferon gamma release assay diagnostics and surveillance for Mycobacterium tuberculosis infection are game-changers in the ongoing effort to reduce the rates of TB infection nationwide.

“From 1982 to 2013, we’ve had a very nice decline in the number of TB cases. However, we still have quite a bit of work to do,” Dr. Shane said at a pediatric update sponsored by the American Academy of Pediatrics California District 9.

Reported case rates are especially high in California, Nevada, Texas, Florida, New York, Washington, New Jersey, and the District of Columbia. By age group, those under 5 years old and those aged 15-24 years are more likely to be affected.

“It’s really important to identify TB as soon as possible, especially in children,” said Dr. Shane of the department of pediatrics, division of infectious diseases, Emory University, Atlanta. “An interferon gamma release assay (IGRA) or a tuberculin skin test (TST) may be used in situation where assessment for MTB [M. tuberculosis] exposure is indicated. IGRA is preferred in persons who received BCG vaccine and who have low rates of test completion, while TST is preferred for testing of children younger than age 5.”

TB disease in people younger than age 15 years is a marker for transmission of TB, usually from an adult. “So when we identify a case of TB in children, that requires a contact investigation,” she said. “We’re more concerned with children under the age of 5 with TB because they are more likely to have disseminated disease.”

Latent TB means that the patient has been exposed to the disease but that his or her body has been able to control the infection; no systemic manifestations of infection are present. “It’s very important to identify the difference between latent tuberculosis infection (LTBI) and actual tuberculosis disease,” she said. “This is one of the most challenging aspects to explain to families when you’re giving your diagnosis. The reason this is important is that children or adults who have LTBI are not infectious to other people, whereas someone who has pulmonary or laryngeal TB is considered to be an infectious risk to other individuals.”

Dr. Shane went on to discuss limitations of the TST in diagnosing TB. For one, the test may be placed incorrectly, resulting in an inflammatory response or no response, “and there is reader variability,” she said. “The other issue is that the reading needs to occur 48-72 hours after placement of the test. So, if you place it on a Thursday, that means you really are not going to read it at the optimal time unless the child comes to you on a weekend or the test is read by somebody else.”

As an alternative, two IGRAs have been developed that measure how the immune system reacts to MTB. One is QuantiFERON, which is widely used in the United States; the other is the T-SPOT.TB test, which is widely used in Europe. A positive result on either test indicates that there has been interaction with MTB bacteria but it does not differentiate between LTBI and active TB disease.

“A negative IGRA tells you there is no reaction to the test and MTB is not likely, while an indeterminate result is when you’re unable to interpret the result due to low positive [mitogen] or increased negative control [nil] compared to TB response,” Dr. Shane said. “This usually indicates that there’s some problem with the assay itself. It can also indicate that the individual may not have an immune system that can respond to and produce the interferon gamma that’s needed.”

Assessment of IGRA accuracy is challenged by a lack of a standard for the diagnosis of LTBI and active TB, especially in children. “The reason is, we just don’t have a lot of good data from resource-endowed settings,” Dr. Shane explained. “We have good data from areas where TB is prevalent.” According to the Centers for Disease Control and Prevention and the AAP, IGRAs are probably reliable in children over the age of 5 years, but a TST is still recommended in children under the age of 5.

“The nice thing about the IGRAs is that their specificity is much higher” than TSTs, Dr. Shane said. “However, in some cases a TST might be more sensitive for detecting more remote MTB infections than an IGRA, but IGRAs may be better at detecting a recent infection. Like the TST, an IGRA also shows that if you’re infected with TB you have 5-10% chance of developing active TB in your lifetime.”

She also pointed out that a significant amount of blood is required to perform an IGRA. “That might not always be optimal, especially in a young child,” Dr. Shane said. “Low CD4 counts and other immunodeficiencies have also been associated with false-negative TST and indeterminate/false-negative IGRA results.”

For contact investigations, IGRAs offer increased specificity, are completed during a single visit, and their response is not boosted if an additional evaluation is needed 8-10 weeks after exposure. For periodic screening of health care workers, IGRA offers “technical and logistical advantages, and two-step testing is not required,” she said.

If the TST or IGRA is positive, additional diagnostic efforts are needed “to differentiate between LTBI and active MTB,” said Dr. Shane, who recommended the Curry International Tuberculosis Center as a resource for clinicians. “Your clinical history, chest radiography, [and results of] sputum/gastric aspirates will help,” she added.

If the TST or IGRA is negative, “it’s not sufficient to exclude MTB infection. If you have a discordant TST and IGRA result, consider history and epidemiologic risk factors. Treat with clinical suspicion or risk of a poor outcome (those younger than age 5 and those infected with HIV).”

Dr. Shane reported having no relevant financial disclosures.

[email protected]

On Twitter @dougbrunk

LAS VEGAS – In the clinical opinion of Dr. Andi L. Shane, tuberculin skin testing and interferon gamma release assay diagnostics and surveillance for Mycobacterium tuberculosis infection are game-changers in the ongoing effort to reduce the rates of TB infection nationwide.

“From 1982 to 2013, we’ve had a very nice decline in the number of TB cases. However, we still have quite a bit of work to do,” Dr. Shane said at a pediatric update sponsored by the American Academy of Pediatrics California District 9.

Reported case rates are especially high in California, Nevada, Texas, Florida, New York, Washington, New Jersey, and the District of Columbia. By age group, those under 5 years old and those aged 15-24 years are more likely to be affected.

“It’s really important to identify TB as soon as possible, especially in children,” said Dr. Shane of the department of pediatrics, division of infectious diseases, Emory University, Atlanta. “An interferon gamma release assay (IGRA) or a tuberculin skin test (TST) may be used in situation where assessment for MTB [M. tuberculosis] exposure is indicated. IGRA is preferred in persons who received BCG vaccine and who have low rates of test completion, while TST is preferred for testing of children younger than age 5.”

TB disease in people younger than age 15 years is a marker for transmission of TB, usually from an adult. “So when we identify a case of TB in children, that requires a contact investigation,” she said. “We’re more concerned with children under the age of 5 with TB because they are more likely to have disseminated disease.”

Latent TB means that the patient has been exposed to the disease but that his or her body has been able to control the infection; no systemic manifestations of infection are present. “It’s very important to identify the difference between latent tuberculosis infection (LTBI) and actual tuberculosis disease,” she said. “This is one of the most challenging aspects to explain to families when you’re giving your diagnosis. The reason this is important is that children or adults who have LTBI are not infectious to other people, whereas someone who has pulmonary or laryngeal TB is considered to be an infectious risk to other individuals.”

Dr. Shane went on to discuss limitations of the TST in diagnosing TB. For one, the test may be placed incorrectly, resulting in an inflammatory response or no response, “and there is reader variability,” she said. “The other issue is that the reading needs to occur 48-72 hours after placement of the test. So, if you place it on a Thursday, that means you really are not going to read it at the optimal time unless the child comes to you on a weekend or the test is read by somebody else.”

As an alternative, two IGRAs have been developed that measure how the immune system reacts to MTB. One is QuantiFERON, which is widely used in the United States; the other is the T-SPOT.TB test, which is widely used in Europe. A positive result on either test indicates that there has been interaction with MTB bacteria but it does not differentiate between LTBI and active TB disease.

“A negative IGRA tells you there is no reaction to the test and MTB is not likely, while an indeterminate result is when you’re unable to interpret the result due to low positive [mitogen] or increased negative control [nil] compared to TB response,” Dr. Shane said. “This usually indicates that there’s some problem with the assay itself. It can also indicate that the individual may not have an immune system that can respond to and produce the interferon gamma that’s needed.”

Assessment of IGRA accuracy is challenged by a lack of a standard for the diagnosis of LTBI and active TB, especially in children. “The reason is, we just don’t have a lot of good data from resource-endowed settings,” Dr. Shane explained. “We have good data from areas where TB is prevalent.” According to the Centers for Disease Control and Prevention and the AAP, IGRAs are probably reliable in children over the age of 5 years, but a TST is still recommended in children under the age of 5.

“The nice thing about the IGRAs is that their specificity is much higher” than TSTs, Dr. Shane said. “However, in some cases a TST might be more sensitive for detecting more remote MTB infections than an IGRA, but IGRAs may be better at detecting a recent infection. Like the TST, an IGRA also shows that if you’re infected with TB you have 5-10% chance of developing active TB in your lifetime.”

She also pointed out that a significant amount of blood is required to perform an IGRA. “That might not always be optimal, especially in a young child,” Dr. Shane said. “Low CD4 counts and other immunodeficiencies have also been associated with false-negative TST and indeterminate/false-negative IGRA results.”

For contact investigations, IGRAs offer increased specificity, are completed during a single visit, and their response is not boosted if an additional evaluation is needed 8-10 weeks after exposure. For periodic screening of health care workers, IGRA offers “technical and logistical advantages, and two-step testing is not required,” she said.

If the TST or IGRA is positive, additional diagnostic efforts are needed “to differentiate between LTBI and active MTB,” said Dr. Shane, who recommended the Curry International Tuberculosis Center as a resource for clinicians. “Your clinical history, chest radiography, [and results of] sputum/gastric aspirates will help,” she added.

If the TST or IGRA is negative, “it’s not sufficient to exclude MTB infection. If you have a discordant TST and IGRA result, consider history and epidemiologic risk factors. Treat with clinical suspicion or risk of a poor outcome (those younger than age 5 and those infected with HIV).”

Dr. Shane reported having no relevant financial disclosures.

[email protected]

On Twitter @dougbrunk

VIENNA – Bedside echocardiography has become a key part of quickly assessing patients with acute heart failure to decide the best management strategy.

But bedside echo images often are challenging to interpret, so physicians performing an initial work-up of an acute heart failure patient need training in a basic echocardiography examination, Dr. Nuno Cardim said in an interview during the annual meeting of the European Association of Cardiovascular Imaging.

Known as Focused Cardiac Ultrasound (FoCUS), this triage-level exam is distinct from a comprehensive echocardiography assessment. Instead, FoCUS addresses some basic, yes-or-no, present-or-absent questions regarding systolic function, hypovolemia, tamponade, pleural effusion, and pulmonary embolus.

In a position paper and then in practice recommendations issued in 2014, the European Association of Cardiovascular Imaging acknowledged that use of FoCUS in acute heart failure patients was “irreversible,” said Dr. Cardim, professor and director of echocardiography and cardiac imaging at Hospital da Luz in Lisbon.

Cardiologists and echocardiography specialists need to make sure that FoCUS training is available to all physicians who might see suspected acute heart failure patients in emergency medicine settings, Dr. Cardim said.

Dr. Cardim had no disclosures.

[email protected]

On Twitter @mitchelzoler

VIENNA – Bedside echocardiography has become a key part of quickly assessing patients with acute heart failure to decide the best management strategy.

But bedside echo images often are challenging to interpret, so physicians performing an initial work-up of an acute heart failure patient need training in a basic echocardiography examination, Dr. Nuno Cardim said in an interview during the annual meeting of the European Association of Cardiovascular Imaging.

Known as Focused Cardiac Ultrasound (FoCUS), this triage-level exam is distinct from a comprehensive echocardiography assessment. Instead, FoCUS addresses some basic, yes-or-no, present-or-absent questions regarding systolic function, hypovolemia, tamponade, pleural effusion, and pulmonary embolus.

In a position paper and then in practice recommendations issued in 2014, the European Association of Cardiovascular Imaging acknowledged that use of FoCUS in acute heart failure patients was “irreversible,” said Dr. Cardim, professor and director of echocardiography and cardiac imaging at Hospital da Luz in Lisbon.

Cardiologists and echocardiography specialists need to make sure that FoCUS training is available to all physicians who might see suspected acute heart failure patients in emergency medicine settings, Dr. Cardim said.

Dr. Cardim had no disclosures.

[email protected]

On Twitter @mitchelzoler

VIENNA – Bedside echocardiography has become a key part of quickly assessing patients with acute heart failure to decide the best management strategy.

But bedside echo images often are challenging to interpret, so physicians performing an initial work-up of an acute heart failure patient need training in a basic echocardiography examination, Dr. Nuno Cardim said in an interview during the annual meeting of the European Association of Cardiovascular Imaging.

Known as Focused Cardiac Ultrasound (FoCUS), this triage-level exam is distinct from a comprehensive echocardiography assessment. Instead, FoCUS addresses some basic, yes-or-no, present-or-absent questions regarding systolic function, hypovolemia, tamponade, pleural effusion, and pulmonary embolus.

In a position paper and then in practice recommendations issued in 2014, the European Association of Cardiovascular Imaging acknowledged that use of FoCUS in acute heart failure patients was “irreversible,” said Dr. Cardim, professor and director of echocardiography and cardiac imaging at Hospital da Luz in Lisbon.

Cardiologists and echocardiography specialists need to make sure that FoCUS training is available to all physicians who might see suspected acute heart failure patients in emergency medicine settings, Dr. Cardim said.

Dr. Cardim had no disclosures.

[email protected]

On Twitter @mitchelzoler

LAS VEGAS – Beware the diagnosis of tendinitis in children and adolescents who present with varying degrees of knee or foot pain.

“If you make the diagnosis of tendinitis, you’re probably wrong,” Dr. Sally S. Harris said at a pediatric update sponsored by the American Academy of Pediatrics California District 9. “Tendinitis rarely occurs in the pediatric and adolescent age group because tendinitis is a degenerative condition. So think of other things, especially apophysitis.”

An apophysis is a secondary center of ossification that contributes to the peripheral prominences around bones, such as around the ankles, elbows, pelvis, and knees: “The bumps, so to speak,” said Dr. Harris, who practices in the departments of sports medicine and pediatrics at Palo Alto (Calif.) Medical Foundation. “It’s a bone-related pain, an inflammation of that softer cartilage turning to bone that isn’t completely formed.”

Osgood-Schlatter disease ranks as the most-common apophysitis injury. This occurs during midpuberty and is marked by a prominent swollen bump on the front of the knee, just below the knee cap, where the patellar tendon attaches to the tibial tubercle, explained Dr. Harris, who founded the AAP section on sports medicine. “It’s a secondary center of ossification that appears at ages 10-12 years and fuses at ages 14-18.” Telltale signs are tenderness with or without swelling at the tibial tubercle that worsens with running, jumping, or impact activities. “If you ask [patients] to extend their knee against the resistance of your hand, you’ll probably reproduce the pain,” she said.

X-rays usually are not required. “You might do it to confirm the presence of an open apophysitis or to rule out other pathology, but other pathology is almost always unheard of at that area.”

Recommended treatment involves decreasing running and jumping activity as needed to keep symptoms manageable, and decreasing inflammation with ice and possibly nonsteroidal anti-inflammatory drugs. Wearing protective knee pads also can help. “Anytime the bump gets hit, kicked, or kneeled on, it will be more irritated,” she said. “Stretching quadriceps and especially hamstrings can help offload this problem.”.

Dr. Harris described the condition as self-limited although it can last 2-3 years. Potential complications considered minor include enlargement of the tibial tubercle, ununited ossicles in the patellar tendon, and avulsion of the tibial tubercle (rare). “Generally, Osgood-Schlatter is a harmless condition that you just want to manage,” she said.

Another common injury is Sinding-Larsen-Johansson syndrome, which is an apophysitis of the inferior pole of the patella that occurs in prepubescent boys and girls. “This is going to be knee pain, but there won’t be anything obvious for you to see or for them to point at,” Dr. Harris said. “You will focus on the inferior pole of the patella and palpate where the patellar tendon attaches to the knee cap. It’s analogous to jumper’s knee in adults.”

Lateral x-rays will reveal a small ossific fragment at the distal portion of the patella. Sinding-Larsen-Johansson disease typically resolves within 1 year. “It rarely interferes with activity; they just need an explanation of what’s going on,” she said.

Severs disease, which occurs in early puberty, is an apophysitis injury that affects the heels of children who participate in soccer and gymnastics. It’s marked by a traction/impact apophysitis at the site of insertion of the Achilles’ tendon at the posterior calcaneus. “At times, it can last for 2-3 years, but it is a self-limited condition,” Dr. Harris said. “Nothing ever bad comes from this other than the ups and downs of the pain. It’s pain at the base of the heel, not the Achilles’ tendon area, but patients will come in and some of them have been told they have Achilles’ tendinitis.”

Telltale signs include pain with heel walking and positive lateral squeeze test of the posterior calcaneus. “That reproduces the symptoms,” she said. “If they’re not symptomatic when you see them in the office, you can ask them to try this test after their next [sports] practice, and this will confirm the diagnosis. X-rays are not needed.”

Treatment involves modifying physical activity to keep symptoms manageable. Insertion of silicone heel cups can help, as can wearing shoes with good padding.

If a child of pubertal age presents with pain localized to the inner side of the arching foot, think tarsal navicular bone apophysitis, which is due to the presence of accessory navicular or open apophysitis. “It doesn’t really matter what the anatomy is; it’s all treated the same way, which is to support pronation with arch support,” Dr. Harris said. “If this doesn’t alleviate symptoms well enough, they need custom orthotics made.”

The final injury Dr. Harris discussed was Iselin’s disease, which is a secondary center of ossification at the site of insertion of the peroneal tendon at the base of the 5th metatarsal. Pain in the region is exacerbated by excessive lateral ankle movement. “On an x-ray, this looks like a small crescent of bone growing that hasn’t completely fused yet,” she said. “It’s often misread as a fracture, but it’s normal development.” Treatment consists of activity modification, icing, and NSAIDs as needed, and an ankle brace to provide lateral ankle support. She described Iselin’s as “harmless and short lived, from 6-10 months at the most.”

Dr. Harris reported having no financial disclosures.

[email protected]

On Twitter @dougbrunk

LAS VEGAS – Beware the diagnosis of tendinitis in children and adolescents who present with varying degrees of knee or foot pain.

“If you make the diagnosis of tendinitis, you’re probably wrong,” Dr. Sally S. Harris said at a pediatric update sponsored by the American Academy of Pediatrics California District 9. “Tendinitis rarely occurs in the pediatric and adolescent age group because tendinitis is a degenerative condition. So think of other things, especially apophysitis.”

An apophysis is a secondary center of ossification that contributes to the peripheral prominences around bones, such as around the ankles, elbows, pelvis, and knees: “The bumps, so to speak,” said Dr. Harris, who practices in the departments of sports medicine and pediatrics at Palo Alto (Calif.) Medical Foundation. “It’s a bone-related pain, an inflammation of that softer cartilage turning to bone that isn’t completely formed.”

Osgood-Schlatter disease ranks as the most-common apophysitis injury. This occurs during midpuberty and is marked by a prominent swollen bump on the front of the knee, just below the knee cap, where the patellar tendon attaches to the tibial tubercle, explained Dr. Harris, who founded the AAP section on sports medicine. “It’s a secondary center of ossification that appears at ages 10-12 years and fuses at ages 14-18.” Telltale signs are tenderness with or without swelling at the tibial tubercle that worsens with running, jumping, or impact activities. “If you ask [patients] to extend their knee against the resistance of your hand, you’ll probably reproduce the pain,” she said.

X-rays usually are not required. “You might do it to confirm the presence of an open apophysitis or to rule out other pathology, but other pathology is almost always unheard of at that area.”

Recommended treatment involves decreasing running and jumping activity as needed to keep symptoms manageable, and decreasing inflammation with ice and possibly nonsteroidal anti-inflammatory drugs. Wearing protective knee pads also can help. “Anytime the bump gets hit, kicked, or kneeled on, it will be more irritated,” she said. “Stretching quadriceps and especially hamstrings can help offload this problem.”.

Dr. Harris described the condition as self-limited although it can last 2-3 years. Potential complications considered minor include enlargement of the tibial tubercle, ununited ossicles in the patellar tendon, and avulsion of the tibial tubercle (rare). “Generally, Osgood-Schlatter is a harmless condition that you just want to manage,” she said.

Another common injury is Sinding-Larsen-Johansson syndrome, which is an apophysitis of the inferior pole of the patella that occurs in prepubescent boys and girls. “This is going to be knee pain, but there won’t be anything obvious for you to see or for them to point at,” Dr. Harris said. “You will focus on the inferior pole of the patella and palpate where the patellar tendon attaches to the knee cap. It’s analogous to jumper’s knee in adults.”

Lateral x-rays will reveal a small ossific fragment at the distal portion of the patella. Sinding-Larsen-Johansson disease typically resolves within 1 year. “It rarely interferes with activity; they just need an explanation of what’s going on,” she said.

Severs disease, which occurs in early puberty, is an apophysitis injury that affects the heels of children who participate in soccer and gymnastics. It’s marked by a traction/impact apophysitis at the site of insertion of the Achilles’ tendon at the posterior calcaneus. “At times, it can last for 2-3 years, but it is a self-limited condition,” Dr. Harris said. “Nothing ever bad comes from this other than the ups and downs of the pain. It’s pain at the base of the heel, not the Achilles’ tendon area, but patients will come in and some of them have been told they have Achilles’ tendinitis.”

Telltale signs include pain with heel walking and positive lateral squeeze test of the posterior calcaneus. “That reproduces the symptoms,” she said. “If they’re not symptomatic when you see them in the office, you can ask them to try this test after their next [sports] practice, and this will confirm the diagnosis. X-rays are not needed.”

Treatment involves modifying physical activity to keep symptoms manageable. Insertion of silicone heel cups can help, as can wearing shoes with good padding.

If a child of pubertal age presents with pain localized to the inner side of the arching foot, think tarsal navicular bone apophysitis, which is due to the presence of accessory navicular or open apophysitis. “It doesn’t really matter what the anatomy is; it’s all treated the same way, which is to support pronation with arch support,” Dr. Harris said. “If this doesn’t alleviate symptoms well enough, they need custom orthotics made.”

The final injury Dr. Harris discussed was Iselin’s disease, which is a secondary center of ossification at the site of insertion of the peroneal tendon at the base of the 5th metatarsal. Pain in the region is exacerbated by excessive lateral ankle movement. “On an x-ray, this looks like a small crescent of bone growing that hasn’t completely fused yet,” she said. “It’s often misread as a fracture, but it’s normal development.” Treatment consists of activity modification, icing, and NSAIDs as needed, and an ankle brace to provide lateral ankle support. She described Iselin’s as “harmless and short lived, from 6-10 months at the most.”

Dr. Harris reported having no financial disclosures.

[email protected]

On Twitter @dougbrunk

LAS VEGAS – Beware the diagnosis of tendinitis in children and adolescents who present with varying degrees of knee or foot pain.

“If you make the diagnosis of tendinitis, you’re probably wrong,” Dr. Sally S. Harris said at a pediatric update sponsored by the American Academy of Pediatrics California District 9. “Tendinitis rarely occurs in the pediatric and adolescent age group because tendinitis is a degenerative condition. So think of other things, especially apophysitis.”

An apophysis is a secondary center of ossification that contributes to the peripheral prominences around bones, such as around the ankles, elbows, pelvis, and knees: “The bumps, so to speak,” said Dr. Harris, who practices in the departments of sports medicine and pediatrics at Palo Alto (Calif.) Medical Foundation. “It’s a bone-related pain, an inflammation of that softer cartilage turning to bone that isn’t completely formed.”

Osgood-Schlatter disease ranks as the most-common apophysitis injury. This occurs during midpuberty and is marked by a prominent swollen bump on the front of the knee, just below the knee cap, where the patellar tendon attaches to the tibial tubercle, explained Dr. Harris, who founded the AAP section on sports medicine. “It’s a secondary center of ossification that appears at ages 10-12 years and fuses at ages 14-18.” Telltale signs are tenderness with or without swelling at the tibial tubercle that worsens with running, jumping, or impact activities. “If you ask [patients] to extend their knee against the resistance of your hand, you’ll probably reproduce the pain,” she said.

X-rays usually are not required. “You might do it to confirm the presence of an open apophysitis or to rule out other pathology, but other pathology is almost always unheard of at that area.”

Recommended treatment involves decreasing running and jumping activity as needed to keep symptoms manageable, and decreasing inflammation with ice and possibly nonsteroidal anti-inflammatory drugs. Wearing protective knee pads also can help. “Anytime the bump gets hit, kicked, or kneeled on, it will be more irritated,” she said. “Stretching quadriceps and especially hamstrings can help offload this problem.”.

Dr. Harris described the condition as self-limited although it can last 2-3 years. Potential complications considered minor include enlargement of the tibial tubercle, ununited ossicles in the patellar tendon, and avulsion of the tibial tubercle (rare). “Generally, Osgood-Schlatter is a harmless condition that you just want to manage,” she said.

Another common injury is Sinding-Larsen-Johansson syndrome, which is an apophysitis of the inferior pole of the patella that occurs in prepubescent boys and girls. “This is going to be knee pain, but there won’t be anything obvious for you to see or for them to point at,” Dr. Harris said. “You will focus on the inferior pole of the patella and palpate where the patellar tendon attaches to the knee cap. It’s analogous to jumper’s knee in adults.”

Lateral x-rays will reveal a small ossific fragment at the distal portion of the patella. Sinding-Larsen-Johansson disease typically resolves within 1 year. “It rarely interferes with activity; they just need an explanation of what’s going on,” she said.

Severs disease, which occurs in early puberty, is an apophysitis injury that affects the heels of children who participate in soccer and gymnastics. It’s marked by a traction/impact apophysitis at the site of insertion of the Achilles’ tendon at the posterior calcaneus. “At times, it can last for 2-3 years, but it is a self-limited condition,” Dr. Harris said. “Nothing ever bad comes from this other than the ups and downs of the pain. It’s pain at the base of the heel, not the Achilles’ tendon area, but patients will come in and some of them have been told they have Achilles’ tendinitis.”

Telltale signs include pain with heel walking and positive lateral squeeze test of the posterior calcaneus. “That reproduces the symptoms,” she said. “If they’re not symptomatic when you see them in the office, you can ask them to try this test after their next [sports] practice, and this will confirm the diagnosis. X-rays are not needed.”

Treatment involves modifying physical activity to keep symptoms manageable. Insertion of silicone heel cups can help, as can wearing shoes with good padding.

If a child of pubertal age presents with pain localized to the inner side of the arching foot, think tarsal navicular bone apophysitis, which is due to the presence of accessory navicular or open apophysitis. “It doesn’t really matter what the anatomy is; it’s all treated the same way, which is to support pronation with arch support,” Dr. Harris said. “If this doesn’t alleviate symptoms well enough, they need custom orthotics made.”

The final injury Dr. Harris discussed was Iselin’s disease, which is a secondary center of ossification at the site of insertion of the peroneal tendon at the base of the 5th metatarsal. Pain in the region is exacerbated by excessive lateral ankle movement. “On an x-ray, this looks like a small crescent of bone growing that hasn’t completely fused yet,” she said. “It’s often misread as a fracture, but it’s normal development.” Treatment consists of activity modification, icing, and NSAIDs as needed, and an ankle brace to provide lateral ankle support. She described Iselin’s as “harmless and short lived, from 6-10 months at the most.”

Dr. Harris reported having no financial disclosures.

[email protected]

On Twitter @dougbrunk

The introduction of cell-free fetal DNA (cfDNA) testing has had a tremendous impact on prenatal care. Numerous series reporting near-diagnostic accuracy for trisomy 21 detection have been reported,¹ and several commercial laboratories offer clinical testing. Many patients now take advantage of these tests, and the very low false-positive rates have resulted in a marked decrease in the rate of invasive diagnostic testing.² At present, most professional societies suggest that these tests be reserved for women at high risk for fetal aneuploidy.³

Details of the study
In this recent article by Porreco and colleagues, the researchers reported on a large cohort study of patients who had made the decision to undergo invasive diagnostic testing with chorionic villus sampling or amniocentesis prior to undergoing noninvasive testing, in order to validate the clinical performance of massively parallel genomic sequencing of cfDNA. As in several prior reports, the study authors found that the detection rate of cfDNA for trisomy 21 was 100%, and somewhat less for trisomy 18 (92%) and trisomy 13 (87%). The false-positive rate was very low, with only three false-positive results (all for trisomy 21) in 3,430 patients. Testing for fetal sex chromosomes reported 7 out of 3,322 errors in fetal sex and 100% detection of sex chromosomal aneuploidies, with 16 out of 3,200 false-­positive results.

Study limitations
As in prior reports, limitations to the test were not clearly presented. Patients with “complex chromosomal abnormalities” not detectable by cfDNA were excluded from the reported cohort. Considering these cases, fewer of the total chromosomal abnormalities in the cohort were detected.

Also, adequate fetal DNA is necessary for accurate results, and patients with less than 4% fetal DNA were excluded. Low fetal DNA is associated with an increased risk of trisomy.^4,5 Therefore, excluding such cases will bias results toward a higher detection rate.

The outcomes for cases of low fetal DNA were not included in this study, but in another recent paper 22% of cases of low fetal DNA had aneuploidy, and 16% of common aneuploidies were not detected because of failed testing.⁴

What this evidence means for practice
Cell-free fetal DNA is an exciting technology, and this study adds to the existing literature in the field. However, use of the test requires careful patient counseling regarding the limitations in detecting abnormalities other than trisomy 21, which comprises just 50% of all aneuploidies. Women who desire a comprehensive prenatal genetic assessment may prefer invasive diagnostic testing and should be counseled appropriately. Patients in whom the test fails should be informed that they are at high risk for a chromosomal abnormality.

Considering these outcomes, the benefits of prenatal screening with cfDNA over current testing alternatives, with serum analytes and/or invasive diagnostic testing, become less clear and the options more complex. Of primary importance is that patients understand the risks and benefits of alternative tests.
                                                                                                                                                         —Mary E. Norton, MD 

Share your thoughts on this article! Send your Letter to the Editor to [email protected]. Please include your name and the city and state in which you practice.

The introduction of cell-free fetal DNA (cfDNA) testing has had a tremendous impact on prenatal care. Numerous series reporting near-diagnostic accuracy for trisomy 21 detection have been reported,¹ and several commercial laboratories offer clinical testing. Many patients now take advantage of these tests, and the very low false-positive rates have resulted in a marked decrease in the rate of invasive diagnostic testing.² At present, most professional societies suggest that these tests be reserved for women at high risk for fetal aneuploidy.³

Details of the study
In this recent article by Porreco and colleagues, the researchers reported on a large cohort study of patients who had made the decision to undergo invasive diagnostic testing with chorionic villus sampling or amniocentesis prior to undergoing noninvasive testing, in order to validate the clinical performance of massively parallel genomic sequencing of cfDNA. As in several prior reports, the study authors found that the detection rate of cfDNA for trisomy 21 was 100%, and somewhat less for trisomy 18 (92%) and trisomy 13 (87%). The false-positive rate was very low, with only three false-positive results (all for trisomy 21) in 3,430 patients. Testing for fetal sex chromosomes reported 7 out of 3,322 errors in fetal sex and 100% detection of sex chromosomal aneuploidies, with 16 out of 3,200 false-­positive results.

Study limitations
As in prior reports, limitations to the test were not clearly presented. Patients with “complex chromosomal abnormalities” not detectable by cfDNA were excluded from the reported cohort. Considering these cases, fewer of the total chromosomal abnormalities in the cohort were detected.

Also, adequate fetal DNA is necessary for accurate results, and patients with less than 4% fetal DNA were excluded. Low fetal DNA is associated with an increased risk of trisomy.^4,5 Therefore, excluding such cases will bias results toward a higher detection rate.

The outcomes for cases of low fetal DNA were not included in this study, but in another recent paper 22% of cases of low fetal DNA had aneuploidy, and 16% of common aneuploidies were not detected because of failed testing.⁴

What this evidence means for practice
Cell-free fetal DNA is an exciting technology, and this study adds to the existing literature in the field. However, use of the test requires careful patient counseling regarding the limitations in detecting abnormalities other than trisomy 21, which comprises just 50% of all aneuploidies. Women who desire a comprehensive prenatal genetic assessment may prefer invasive diagnostic testing and should be counseled appropriately. Patients in whom the test fails should be informed that they are at high risk for a chromosomal abnormality.

Considering these outcomes, the benefits of prenatal screening with cfDNA over current testing alternatives, with serum analytes and/or invasive diagnostic testing, become less clear and the options more complex. Of primary importance is that patients understand the risks and benefits of alternative tests.
                                                                                                                                                         —Mary E. Norton, MD 

Share your thoughts on this article! Send your Letter to the Editor to [email protected]. Please include your name and the city and state in which you practice.

The introduction of cell-free fetal DNA (cfDNA) testing has had a tremendous impact on prenatal care. Numerous series reporting near-diagnostic accuracy for trisomy 21 detection have been reported,¹ and several commercial laboratories offer clinical testing. Many patients now take advantage of these tests, and the very low false-positive rates have resulted in a marked decrease in the rate of invasive diagnostic testing.² At present, most professional societies suggest that these tests be reserved for women at high risk for fetal aneuploidy.³

Details of the study
In this recent article by Porreco and colleagues, the researchers reported on a large cohort study of patients who had made the decision to undergo invasive diagnostic testing with chorionic villus sampling or amniocentesis prior to undergoing noninvasive testing, in order to validate the clinical performance of massively parallel genomic sequencing of cfDNA. As in several prior reports, the study authors found that the detection rate of cfDNA for trisomy 21 was 100%, and somewhat less for trisomy 18 (92%) and trisomy 13 (87%). The false-positive rate was very low, with only three false-positive results (all for trisomy 21) in 3,430 patients. Testing for fetal sex chromosomes reported 7 out of 3,322 errors in fetal sex and 100% detection of sex chromosomal aneuploidies, with 16 out of 3,200 false-­positive results.

Study limitations
As in prior reports, limitations to the test were not clearly presented. Patients with “complex chromosomal abnormalities” not detectable by cfDNA were excluded from the reported cohort. Considering these cases, fewer of the total chromosomal abnormalities in the cohort were detected.

Also, adequate fetal DNA is necessary for accurate results, and patients with less than 4% fetal DNA were excluded. Low fetal DNA is associated with an increased risk of trisomy.^4,5 Therefore, excluding such cases will bias results toward a higher detection rate.

The outcomes for cases of low fetal DNA were not included in this study, but in another recent paper 22% of cases of low fetal DNA had aneuploidy, and 16% of common aneuploidies were not detected because of failed testing.⁴

What this evidence means for practice
Cell-free fetal DNA is an exciting technology, and this study adds to the existing literature in the field. However, use of the test requires careful patient counseling regarding the limitations in detecting abnormalities other than trisomy 21, which comprises just 50% of all aneuploidies. Women who desire a comprehensive prenatal genetic assessment may prefer invasive diagnostic testing and should be counseled appropriately. Patients in whom the test fails should be informed that they are at high risk for a chromosomal abnormality.

Considering these outcomes, the benefits of prenatal screening with cfDNA over current testing alternatives, with serum analytes and/or invasive diagnostic testing, become less clear and the options more complex. Of primary importance is that patients understand the risks and benefits of alternative tests.
                                                                                                                                                         —Mary E. Norton, MD 

Share your thoughts on this article! Send your Letter to the Editor to [email protected]. Please include your name and the city and state in which you practice.

CHICAGO – Two new types of drug-eluting, biodegradable polymer stents weren’t inferior to current drug-eluting stents, and they possibly may have caused fewer stent thrombosis episodes.

But do the new stents reduce the risk of long-term stent thrombosis? How will their ease of use affect choice of stents? And how should long-term coronary events that aren’t related to the stents themselves shape approaches to secondary prevention?

In an interview at the American Heart Association scientific sessions, Dr. Robert Harrington shared his perspectives on these questions and connected the stent studies’ results with new findings in prevention research.

The two studies of the new stents were not large enough, nor were patients followed long enough, to prove an advantage in stent thrombosis rates in a definitive way. But the lead investigator in the everolimus-eluting Synergy stent study described the stent as more flexible and deliverable than current coronary stents.

Those usability features may make that stent an attractive option for interventional cardiologists even if clinical outcomes are not significantly improved, Dr. Harrington noted.

“These technical features, such as improved deliverability, are things that will resonate with the interventional community,” he said. “It offers another option for complex cases, and that appeals greatly to interventional cardiologists who are looking for technical solutions,” said Dr. Harrington, professor and chairman of medicine at Stanford (Calif.) University.

Dr. Harrington said that he had no disclosures regarding the studied stents, but he has received grants from several drug companies that market drugs used during and after patients undergo percutaneous coronary interventions.

[email protected]

On Twitter @mitchelzoler

CHICAGO – Two new types of drug-eluting, biodegradable polymer stents weren’t inferior to current drug-eluting stents, and they possibly may have caused fewer stent thrombosis episodes.

But do the new stents reduce the risk of long-term stent thrombosis? How will their ease of use affect choice of stents? And how should long-term coronary events that aren’t related to the stents themselves shape approaches to secondary prevention?

In an interview at the American Heart Association scientific sessions, Dr. Robert Harrington shared his perspectives on these questions and connected the stent studies’ results with new findings in prevention research.

The two studies of the new stents were not large enough, nor were patients followed long enough, to prove an advantage in stent thrombosis rates in a definitive way. But the lead investigator in the everolimus-eluting Synergy stent study described the stent as more flexible and deliverable than current coronary stents.

Those usability features may make that stent an attractive option for interventional cardiologists even if clinical outcomes are not significantly improved, Dr. Harrington noted.

“These technical features, such as improved deliverability, are things that will resonate with the interventional community,” he said. “It offers another option for complex cases, and that appeals greatly to interventional cardiologists who are looking for technical solutions,” said Dr. Harrington, professor and chairman of medicine at Stanford (Calif.) University.

Dr. Harrington said that he had no disclosures regarding the studied stents, but he has received grants from several drug companies that market drugs used during and after patients undergo percutaneous coronary interventions.

[email protected]

On Twitter @mitchelzoler

CHICAGO – Two new types of drug-eluting, biodegradable polymer stents weren’t inferior to current drug-eluting stents, and they possibly may have caused fewer stent thrombosis episodes.

But do the new stents reduce the risk of long-term stent thrombosis? How will their ease of use affect choice of stents? And how should long-term coronary events that aren’t related to the stents themselves shape approaches to secondary prevention?

In an interview at the American Heart Association scientific sessions, Dr. Robert Harrington shared his perspectives on these questions and connected the stent studies’ results with new findings in prevention research.

The two studies of the new stents were not large enough, nor were patients followed long enough, to prove an advantage in stent thrombosis rates in a definitive way. But the lead investigator in the everolimus-eluting Synergy stent study described the stent as more flexible and deliverable than current coronary stents.

Those usability features may make that stent an attractive option for interventional cardiologists even if clinical outcomes are not significantly improved, Dr. Harrington noted.

“These technical features, such as improved deliverability, are things that will resonate with the interventional community,” he said. “It offers another option for complex cases, and that appeals greatly to interventional cardiologists who are looking for technical solutions,” said Dr. Harrington, professor and chairman of medicine at Stanford (Calif.) University.

Dr. Harrington said that he had no disclosures regarding the studied stents, but he has received grants from several drug companies that market drugs used during and after patients undergo percutaneous coronary interventions.

[email protected]

On Twitter @mitchelzoler