Prenatal Testing

Key clinical point: Maternal placental growth factor (PlGF) levels measured before labor may aid the prediction of cesarean delivery owing to fetal dysfunction and fetal heart rate (FHR) function at delivery.

Major finding: Women having vaginal delivery had significantly higher pre-labor PlGF levels than those having a cesarean delivery owing to fetal dysfunction (157 ± 106 vs. 74 ± 62 pg/mL; P = .03). PlGF levels showed a significant negative correlation (r = −0.42; P = .01) with FHR findings at delivery according to the five-tier classification system.

Study details: The study analyzed PlGF levels in 33 primiparous singleton pregnant women at 35-42 weeks of gestation who were hospitalized before the onset of labor, of which 26 women had vaginal delivery and 7 had a cesarean delivery due to fetal indications.

Disclosures: The study received no financial support. The authors declared no conflicts of interest.

Source: Tanaka H et al. Placental growth factor level is correlated with intrapartum fetal heart rate findings. BMC Pregnancy Childbirth. 2022;22:215 (Mar 17). Doi: 10.1186/s12884-022-04562-w

Key clinical point: Maternal placental growth factor (PlGF) levels measured before labor may aid the prediction of cesarean delivery owing to fetal dysfunction and fetal heart rate (FHR) function at delivery.

Major finding: Women having vaginal delivery had significantly higher pre-labor PlGF levels than those having a cesarean delivery owing to fetal dysfunction (157 ± 106 vs. 74 ± 62 pg/mL; P = .03). PlGF levels showed a significant negative correlation (r = −0.42; P = .01) with FHR findings at delivery according to the five-tier classification system.

Study details: The study analyzed PlGF levels in 33 primiparous singleton pregnant women at 35-42 weeks of gestation who were hospitalized before the onset of labor, of which 26 women had vaginal delivery and 7 had a cesarean delivery due to fetal indications.

Disclosures: The study received no financial support. The authors declared no conflicts of interest.

Source: Tanaka H et al. Placental growth factor level is correlated with intrapartum fetal heart rate findings. BMC Pregnancy Childbirth. 2022;22:215 (Mar 17). Doi: 10.1186/s12884-022-04562-w

Key clinical point: Maternal placental growth factor (PlGF) levels measured before labor may aid the prediction of cesarean delivery owing to fetal dysfunction and fetal heart rate (FHR) function at delivery.

Major finding: Women having vaginal delivery had significantly higher pre-labor PlGF levels than those having a cesarean delivery owing to fetal dysfunction (157 ± 106 vs. 74 ± 62 pg/mL; P = .03). PlGF levels showed a significant negative correlation (r = −0.42; P = .01) with FHR findings at delivery according to the five-tier classification system.

Study details: The study analyzed PlGF levels in 33 primiparous singleton pregnant women at 35-42 weeks of gestation who were hospitalized before the onset of labor, of which 26 women had vaginal delivery and 7 had a cesarean delivery due to fetal indications.

Disclosures: The study received no financial support. The authors declared no conflicts of interest.

Source: Tanaka H et al. Placental growth factor level is correlated with intrapartum fetal heart rate findings. BMC Pregnancy Childbirth. 2022;22:215 (Mar 17). Doi: 10.1186/s12884-022-04562-w

Key clinical point: Maternal serum lamin A (LMNA) could emerge as a potential biomarker for prenatal diagnosis of fetal congenital heart disease (CHD), neural tube defects (NTD), and preeclampsia (PE).

Major finding: Significantly lower LMNA levels were observed in pregnancies with fetal CHD, NTD, and PE (all P < .0001). The areas under the receiver operating characteristic curve for LMNA in prenatal diagnoses of CHD, NTD, early-onset PE, and late-onset PE were 0.875, 0.871, 0.851, and 0.674, respectively.

Study details: The data are derived from a prospective study including 2711 singleton pregnant women at 15-18 weeks of gestation who underwent measurement of serum LMNA levels.

Disclosures: The study was funded by the National Key Research and Development Program and National Natural Science Foundation of China, among others. The authors reported no conflicts of interest.

Source: Chen L et al. Maternal serum lamin A is a potential biomarker that can predict adverse pregnancy outcomes. EBioMedicine. 2022;77:103932 (Mar 11). Doi: 10.1016/j.ebiom.2022.103932

Key clinical point: Maternal serum lamin A (LMNA) could emerge as a potential biomarker for prenatal diagnosis of fetal congenital heart disease (CHD), neural tube defects (NTD), and preeclampsia (PE).

Major finding: Significantly lower LMNA levels were observed in pregnancies with fetal CHD, NTD, and PE (all P < .0001). The areas under the receiver operating characteristic curve for LMNA in prenatal diagnoses of CHD, NTD, early-onset PE, and late-onset PE were 0.875, 0.871, 0.851, and 0.674, respectively.

Study details: The data are derived from a prospective study including 2711 singleton pregnant women at 15-18 weeks of gestation who underwent measurement of serum LMNA levels.

Disclosures: The study was funded by the National Key Research and Development Program and National Natural Science Foundation of China, among others. The authors reported no conflicts of interest.

Source: Chen L et al. Maternal serum lamin A is a potential biomarker that can predict adverse pregnancy outcomes. EBioMedicine. 2022;77:103932 (Mar 11). Doi: 10.1016/j.ebiom.2022.103932

Key clinical point: Maternal serum lamin A (LMNA) could emerge as a potential biomarker for prenatal diagnosis of fetal congenital heart disease (CHD), neural tube defects (NTD), and preeclampsia (PE).

Major finding: Significantly lower LMNA levels were observed in pregnancies with fetal CHD, NTD, and PE (all P < .0001). The areas under the receiver operating characteristic curve for LMNA in prenatal diagnoses of CHD, NTD, early-onset PE, and late-onset PE were 0.875, 0.871, 0.851, and 0.674, respectively.

Study details: The data are derived from a prospective study including 2711 singleton pregnant women at 15-18 weeks of gestation who underwent measurement of serum LMNA levels.

Disclosures: The study was funded by the National Key Research and Development Program and National Natural Science Foundation of China, among others. The authors reported no conflicts of interest.

Source: Chen L et al. Maternal serum lamin A is a potential biomarker that can predict adverse pregnancy outcomes. EBioMedicine. 2022;77:103932 (Mar 11). Doi: 10.1016/j.ebiom.2022.103932

Key clinical point: Fetal echocardiography can diagnose most major congenital heart diseases (CHD) with high accuracy. The accuracy can be affected by factors such as gestational age at diagnosis and double outlet right ventricle (DORV) diagnosis.

Major finding: Diagnostic accuracy rates were highest for univentricular hearts (97.6%; CI, 86.3%-99.9%), followed by tetralogy of Fallot (97.2%; CI 90.0%-99.2%) and transposition of the great arteries (96.2%; CI 89.2%-98.6%) and the lowest for heterotaxy syndrome (71.1%; CI 56.6%-82.2%). Factors such as a >25-week gestational age at diagnosis (adjusted risk ratio [aRR] 2.1; P = .023) and DORV diagnosis (aRR 8.33; P = .032) affected the diagnostic accuracy.

Study details: The data come from a retrospective, single-center study including 827 fetuses prenatally diagnosed with a major CHD that was confirmed for 589 either postnatally or via fetal autopsies.

Disclosures: This research was sponsored by the Stollery Children’s Hospital Foundation and Lois Hole Women’s Hospital/Royal Alexandra Hospital Foundation. The authors declared no conflicts of interest.

Source: Haberer K et al. Accuracy of fetal echocardiography in defining anatomical details: A single institutional experience over a 12-year period. J Am Soc Echocardiogr. 2022 (Mar 11). Doi: 10.1016/j.echo.2022.02.015

Key clinical point: Fetal echocardiography can diagnose most major congenital heart diseases (CHD) with high accuracy. The accuracy can be affected by factors such as gestational age at diagnosis and double outlet right ventricle (DORV) diagnosis.

Major finding: Diagnostic accuracy rates were highest for univentricular hearts (97.6%; CI, 86.3%-99.9%), followed by tetralogy of Fallot (97.2%; CI 90.0%-99.2%) and transposition of the great arteries (96.2%; CI 89.2%-98.6%) and the lowest for heterotaxy syndrome (71.1%; CI 56.6%-82.2%). Factors such as a >25-week gestational age at diagnosis (adjusted risk ratio [aRR] 2.1; P = .023) and DORV diagnosis (aRR 8.33; P = .032) affected the diagnostic accuracy.

Study details: The data come from a retrospective, single-center study including 827 fetuses prenatally diagnosed with a major CHD that was confirmed for 589 either postnatally or via fetal autopsies.

Disclosures: This research was sponsored by the Stollery Children’s Hospital Foundation and Lois Hole Women’s Hospital/Royal Alexandra Hospital Foundation. The authors declared no conflicts of interest.

Source: Haberer K et al. Accuracy of fetal echocardiography in defining anatomical details: A single institutional experience over a 12-year period. J Am Soc Echocardiogr. 2022 (Mar 11). Doi: 10.1016/j.echo.2022.02.015

Key clinical point: Fetal echocardiography can diagnose most major congenital heart diseases (CHD) with high accuracy. The accuracy can be affected by factors such as gestational age at diagnosis and double outlet right ventricle (DORV) diagnosis.

Major finding: Diagnostic accuracy rates were highest for univentricular hearts (97.6%; CI, 86.3%-99.9%), followed by tetralogy of Fallot (97.2%; CI 90.0%-99.2%) and transposition of the great arteries (96.2%; CI 89.2%-98.6%) and the lowest for heterotaxy syndrome (71.1%; CI 56.6%-82.2%). Factors such as a >25-week gestational age at diagnosis (adjusted risk ratio [aRR] 2.1; P = .023) and DORV diagnosis (aRR 8.33; P = .032) affected the diagnostic accuracy.

Study details: The data come from a retrospective, single-center study including 827 fetuses prenatally diagnosed with a major CHD that was confirmed for 589 either postnatally or via fetal autopsies.

Disclosures: This research was sponsored by the Stollery Children’s Hospital Foundation and Lois Hole Women’s Hospital/Royal Alexandra Hospital Foundation. The authors declared no conflicts of interest.

Source: Haberer K et al. Accuracy of fetal echocardiography in defining anatomical details: A single institutional experience over a 12-year period. J Am Soc Echocardiogr. 2022 (Mar 11). Doi: 10.1016/j.echo.2022.02.015

Key clinical point: The incidence of short cervical length is significantly affected by the method of cervical length measurement, thus necessitating knowledge of the measurement method employed.

Major finding: The lowest mean cervical length was recorded using single-line without cervico-isthmic complex (CIC; 41.04 ± 7.1 mm) compared with two-line without CIC (43.29 ± 7.36 mm) and trace without CIC (44.14 ± 7.60 mm); trace with CIC yielded the longest mean length (49.18 ± 9.05 mm). The incidence of a short cervix (<25 mm) ranged from 0.4% to 1.1%.

Study details: This was a single-center, prospective, cohort study including 1691 nulliparous or parous women with a singleton pregnancy who had undergone cervical length measurement between 18 and 22 weeks of gestation.

Disclosures: The authors reported no source of funding. BW Mol declared receiving a National Health and Medical Research Council Investigator grant and consulting fees from a few pharmaceutical companies.

Source: van Zijl MD et al. Uniform international method to measure cervical length; are we there yet? Fetal Diagn Ther. 2022 (Mar 10). Doi: 10.1159/000523996

Key clinical point: The incidence of short cervical length is significantly affected by the method of cervical length measurement, thus necessitating knowledge of the measurement method employed.

Major finding: The lowest mean cervical length was recorded using single-line without cervico-isthmic complex (CIC; 41.04 ± 7.1 mm) compared with two-line without CIC (43.29 ± 7.36 mm) and trace without CIC (44.14 ± 7.60 mm); trace with CIC yielded the longest mean length (49.18 ± 9.05 mm). The incidence of a short cervix (<25 mm) ranged from 0.4% to 1.1%.

Study details: This was a single-center, prospective, cohort study including 1691 nulliparous or parous women with a singleton pregnancy who had undergone cervical length measurement between 18 and 22 weeks of gestation.

Disclosures: The authors reported no source of funding. BW Mol declared receiving a National Health and Medical Research Council Investigator grant and consulting fees from a few pharmaceutical companies.

Source: van Zijl MD et al. Uniform international method to measure cervical length; are we there yet? Fetal Diagn Ther. 2022 (Mar 10). Doi: 10.1159/000523996

Key clinical point: The incidence of short cervical length is significantly affected by the method of cervical length measurement, thus necessitating knowledge of the measurement method employed.

Major finding: The lowest mean cervical length was recorded using single-line without cervico-isthmic complex (CIC; 41.04 ± 7.1 mm) compared with two-line without CIC (43.29 ± 7.36 mm) and trace without CIC (44.14 ± 7.60 mm); trace with CIC yielded the longest mean length (49.18 ± 9.05 mm). The incidence of a short cervix (<25 mm) ranged from 0.4% to 1.1%.

Study details: This was a single-center, prospective, cohort study including 1691 nulliparous or parous women with a singleton pregnancy who had undergone cervical length measurement between 18 and 22 weeks of gestation.

Disclosures: The authors reported no source of funding. BW Mol declared receiving a National Health and Medical Research Council Investigator grant and consulting fees from a few pharmaceutical companies.

Source: van Zijl MD et al. Uniform international method to measure cervical length; are we there yet? Fetal Diagn Ther. 2022 (Mar 10). Doi: 10.1159/000523996

Key clinical point: Normal fetal lung and liver elasticity values elucidated using two-dimensional shear wave elastography (2D-SWE) are valid and repeatable for a probe-region of interest distance of ≤8 cm and demonstrate the histological modifications of both the organs during gestation.

Major finding: Fetal liver elasticity increased significantly from 3.86 kPa at 24 weeks of gestation (WG) to 4.45 kPa at 39 WG (P < .01). Fetal lung elasticity increased from 4.12 kPa to 5.03 kPa between 24 and 32 WG (P < .002), after which it gradually declined to 4.54 kPa at 36 WG and 3.94 kPa at 39 WG.

Study details: The data come from a prospective, observational, multicenter study that included 72 singleton pregnant women at 24 ±1  WG who underwent 2D-SWE at 28, 32, 36, and 39 WG ± 1 week.

Disclosures: The study was funded by the University Hospital of Besançon, France. The authors declared no conflicts of interest.

Source: Nallet C et al. Prenatal quantification of human foetal lung and liver elasticities between 24 and 39 weeks of gestation using 2D shear wave elastography. Eur Radiol. 2022 (Mar 10). Doi: 10.1007/s00330-022-08654-1

Key clinical point: Normal fetal lung and liver elasticity values elucidated using two-dimensional shear wave elastography (2D-SWE) are valid and repeatable for a probe-region of interest distance of ≤8 cm and demonstrate the histological modifications of both the organs during gestation.

Major finding: Fetal liver elasticity increased significantly from 3.86 kPa at 24 weeks of gestation (WG) to 4.45 kPa at 39 WG (P < .01). Fetal lung elasticity increased from 4.12 kPa to 5.03 kPa between 24 and 32 WG (P < .002), after which it gradually declined to 4.54 kPa at 36 WG and 3.94 kPa at 39 WG.

Study details: The data come from a prospective, observational, multicenter study that included 72 singleton pregnant women at 24 ±1  WG who underwent 2D-SWE at 28, 32, 36, and 39 WG ± 1 week.

Disclosures: The study was funded by the University Hospital of Besançon, France. The authors declared no conflicts of interest.

Source: Nallet C et al. Prenatal quantification of human foetal lung and liver elasticities between 24 and 39 weeks of gestation using 2D shear wave elastography. Eur Radiol. 2022 (Mar 10). Doi: 10.1007/s00330-022-08654-1

Key clinical point: Normal fetal lung and liver elasticity values elucidated using two-dimensional shear wave elastography (2D-SWE) are valid and repeatable for a probe-region of interest distance of ≤8 cm and demonstrate the histological modifications of both the organs during gestation.

Major finding: Fetal liver elasticity increased significantly from 3.86 kPa at 24 weeks of gestation (WG) to 4.45 kPa at 39 WG (P < .01). Fetal lung elasticity increased from 4.12 kPa to 5.03 kPa between 24 and 32 WG (P < .002), after which it gradually declined to 4.54 kPa at 36 WG and 3.94 kPa at 39 WG.

Study details: The data come from a prospective, observational, multicenter study that included 72 singleton pregnant women at 24 ±1  WG who underwent 2D-SWE at 28, 32, 36, and 39 WG ± 1 week.

Disclosures: The study was funded by the University Hospital of Besançon, France. The authors declared no conflicts of interest.

Source: Nallet C et al. Prenatal quantification of human foetal lung and liver elasticities between 24 and 39 weeks of gestation using 2D shear wave elastography. Eur Radiol. 2022 (Mar 10). Doi: 10.1007/s00330-022-08654-1

Key clinical point: Intravoxel incoherent motion (IVIM) imaging could supplement routine ultrasound monitoring to noninvasively differentiate between small-for-gestational-age (SGA) and false-positive SGA (fpSGA) pregnancies.

Major finding: Compared with the control and fpSGA groups, the SGA group had significantly lower mean values of the diffusion coefficient (D; P < .001 and P = .004, respectively), pseudodiffusion coefficient (D*; P = .001 and P = .012, respectively), and perfusion fraction (f; both P < .001). The mean values of D (P = .347), D* (P = .404), and f (P = .880) were similar between the control and fpSGA groups.

Study details: This was a prospective study including 75 singleton pregnant women at >28 weeks of gestation with suspected SGA or nonspecific ultrasonographic soft markers, of which 28, 20, and 27 were assigned to the non-SGA control, fpSGA, and SGA groups, respectively.

Disclosures: The study was sponsored by the National Key Research and Development Program of China. No conflicts of interest were reported.

Source: He J et al. Utility of placental diffusion-weighted magnetic resonance imaging in prenatal diagnosis of small for gestational age infants and pregnancy outcome prediction. Placenta. 2022;121:91-98 (Mar 12). Doi: 10.1016/j.placenta.2022.03.010

Key clinical point: Intravoxel incoherent motion (IVIM) imaging could supplement routine ultrasound monitoring to noninvasively differentiate between small-for-gestational-age (SGA) and false-positive SGA (fpSGA) pregnancies.

Major finding: Compared with the control and fpSGA groups, the SGA group had significantly lower mean values of the diffusion coefficient (D; P < .001 and P = .004, respectively), pseudodiffusion coefficient (D*; P = .001 and P = .012, respectively), and perfusion fraction (f; both P < .001). The mean values of D (P = .347), D* (P = .404), and f (P = .880) were similar between the control and fpSGA groups.

Study details: This was a prospective study including 75 singleton pregnant women at >28 weeks of gestation with suspected SGA or nonspecific ultrasonographic soft markers, of which 28, 20, and 27 were assigned to the non-SGA control, fpSGA, and SGA groups, respectively.

Disclosures: The study was sponsored by the National Key Research and Development Program of China. No conflicts of interest were reported.

Source: He J et al. Utility of placental diffusion-weighted magnetic resonance imaging in prenatal diagnosis of small for gestational age infants and pregnancy outcome prediction. Placenta. 2022;121:91-98 (Mar 12). Doi: 10.1016/j.placenta.2022.03.010

Key clinical point: Intravoxel incoherent motion (IVIM) imaging could supplement routine ultrasound monitoring to noninvasively differentiate between small-for-gestational-age (SGA) and false-positive SGA (fpSGA) pregnancies.

Major finding: Compared with the control and fpSGA groups, the SGA group had significantly lower mean values of the diffusion coefficient (D; P < .001 and P = .004, respectively), pseudodiffusion coefficient (D*; P = .001 and P = .012, respectively), and perfusion fraction (f; both P < .001). The mean values of D (P = .347), D* (P = .404), and f (P = .880) were similar between the control and fpSGA groups.

Study details: This was a prospective study including 75 singleton pregnant women at >28 weeks of gestation with suspected SGA or nonspecific ultrasonographic soft markers, of which 28, 20, and 27 were assigned to the non-SGA control, fpSGA, and SGA groups, respectively.

Disclosures: The study was sponsored by the National Key Research and Development Program of China. No conflicts of interest were reported.

Source: He J et al. Utility of placental diffusion-weighted magnetic resonance imaging in prenatal diagnosis of small for gestational age infants and pregnancy outcome prediction. Placenta. 2022;121:91-98 (Mar 12). Doi: 10.1016/j.placenta.2022.03.010

Key clinical point: The frequency of short-burst and burst uterine electromyography signals is higher in midtrimester pregnant women with a cervical length (CL) <2.5 cm, thus elucidating the biophysiological basis for midtrimester cervical shortening that may be used to predict preterm birth.

Major finding: Women with a short vs. normal CL showed significantly higher median percentages of short-bursts (17.3% vs. 2.5%; P = .001) and bursts (6.6% vs. 0%; P = .014).

Study details: Findings are from a prospective cohort study including 28 women with a singleton non-anomalous pregnancy between 16 weeks 0 days and 22 weeks 6 days of gestation, of which 10 and 18 women had a CL of ≥3 cm (normal) and <2.5 cm (short), respectively.

Disclosures: The study was funded by PreTeL, Inc. RC Young declared being the founder of PreTeL.

Source: Marinescu PS et al. Mid-trimester uterine electromyography in patients with a short cervix. Am J Obstet Gynecol. 2022 (Mar 26). Doi: 10.1016/j.ajog.2022.03.046

Key clinical point: The frequency of short-burst and burst uterine electromyography signals is higher in midtrimester pregnant women with a cervical length (CL) <2.5 cm, thus elucidating the biophysiological basis for midtrimester cervical shortening that may be used to predict preterm birth.

Major finding: Women with a short vs. normal CL showed significantly higher median percentages of short-bursts (17.3% vs. 2.5%; P = .001) and bursts (6.6% vs. 0%; P = .014).

Study details: Findings are from a prospective cohort study including 28 women with a singleton non-anomalous pregnancy between 16 weeks 0 days and 22 weeks 6 days of gestation, of which 10 and 18 women had a CL of ≥3 cm (normal) and <2.5 cm (short), respectively.

Disclosures: The study was funded by PreTeL, Inc. RC Young declared being the founder of PreTeL.

Source: Marinescu PS et al. Mid-trimester uterine electromyography in patients with a short cervix. Am J Obstet Gynecol. 2022 (Mar 26). Doi: 10.1016/j.ajog.2022.03.046

Key clinical point: The frequency of short-burst and burst uterine electromyography signals is higher in midtrimester pregnant women with a cervical length (CL) <2.5 cm, thus elucidating the biophysiological basis for midtrimester cervical shortening that may be used to predict preterm birth.

Major finding: Women with a short vs. normal CL showed significantly higher median percentages of short-bursts (17.3% vs. 2.5%; P = .001) and bursts (6.6% vs. 0%; P = .014).

Study details: Findings are from a prospective cohort study including 28 women with a singleton non-anomalous pregnancy between 16 weeks 0 days and 22 weeks 6 days of gestation, of which 10 and 18 women had a CL of ≥3 cm (normal) and <2.5 cm (short), respectively.

Disclosures: The study was funded by PreTeL, Inc. RC Young declared being the founder of PreTeL.

Source: Marinescu PS et al. Mid-trimester uterine electromyography in patients with a short cervix. Am J Obstet Gynecol. 2022 (Mar 26). Doi: 10.1016/j.ajog.2022.03.046

For a decade, the number of babies born with syphilis in the United States has surged, undeterred. Data released Apr. 12 by the Centers for Disease Control and Prevention shows just how dire the outbreak has become.

In 2012, 332 babies were born infected with the disease. In 2021, that number had climbed nearly sevenfold, to at least 2,268, according to preliminary estimates. And 166 of those babies died.

About 7% of babies diagnosed with syphilis in recent years have died; thousands of others born with the disease have faced problems that include brain and bone malformations, blindness, and organ damage.

For public health officials, the situation is all the more heartbreaking, considering that congenital syphilis rates reached near-historic modern lows from 2000 to 2012 amid ambitious prevention and education efforts. By 2020, following a sharp erosion in funding and attention, the nationwide case rate was more than seven times that of 2012.

“The really depressing thing about it is we had this thing virtually eradicated back in the year 2000,” said William Andrews, a public information officer for Oklahoma’s sexual health and harm reduction service. “Now it’s back with a vengeance. We are really trying to get the message out that sexual health is health. It’s nothing to be ashamed of.”

Even as caseloads soar, the CDC budget for STD prevention – the primary funding source for most public health departments – has been largely stagnant for two decades, its purchasing power dragged even lower by inflation.

The CDC report on STD trends provides official data on congenital syphilis cases for 2020, as well as preliminary case counts for 2021 that are expected to increase. CDC data shows that congenital syphilis rates in 2020 continued to climb in already overwhelmed states like Texas, California, and Nevada and that the disease is now present in almost every state in the nation. All but three states – Maine, New Hampshire, and Vermont – reported congenital syphilis cases in 2020.

From 2011 to 2020, congenital syphilis resulted in 633 documented stillbirths and infant deaths, according to the new CDC data.

Preventing congenital syphilis – the term used when syphilis is transferred to a fetus in utero – is from a medical standpoint exceedingly simple: If a pregnant woman is diagnosed at least a month before giving birth, just a few shots of penicillin have a near-perfect cure rate for mother and baby. But funding cuts and competing priorities in the nation’s fragmented public health care system have vastly narrowed access to such services.

The reasons pregnant people with syphilis go undiagnosed or untreated vary geographically, according to data collected by states and analyzed by the CDC.

In Western states, the largest share of cases involve women who have received little to no prenatal care and aren’t tested for syphilis until they give birth. Many have substance use disorders, primarily related to methamphetamines. “They’ve felt a lot of judgment and stigma by the medical community,” said Stephanie Pierce, MD, a maternal fetal medicine specialist at the University of Oklahoma, Oklahoma City, who runs a clinic for women with high-risk pregnancies.

In Southern states, a CDC study of 2018 data found that the largest share of congenital syphilis cases were among women who had been tested and diagnosed but hadn’t received treatment. That year, among Black moms who gave birth to a baby with syphilis, 37% had not been treated adequately even though they’d received a timely diagnosis. Among white moms, that number was 24%. Longstanding racism in medical care, poverty, transportation issues, poorly funded public health departments, and crowded clinics whose employees are too overworked to follow up with patients all contribute to the problem, according to infectious disease experts.

Doctors are also noticing a growing number of women who are treated for syphilis but reinfected during pregnancy. Amid rising cases and stagnant resources, some states have focused disease investigations on pregnant women of childbearing age; they can no longer prioritize treating sexual partners who are also infected.

Eric McGrath, MD, a pediatric infectious disease specialist at Wayne State University, Detroit, said that he’d seen several newborns in recent years whose mothers had been treated for syphilis but then were re-exposed during pregnancy by partners who hadn’t been treated.

Treating a newborn baby for syphilis isn’t trivial. Penicillin carries little risk, but delivering it to a baby often involves a lumbar puncture and other painful procedures. And treatment typically means keeping the baby in the hospital for 10 days, interrupting an important time for family bonding.

Dr. McGrath has seen a couple of babies in his career who weren’t diagnosed or treated at birth and later came to him with full-blown syphilis complications, including full-body rashes and inflamed livers. It was an awful experience he doesn’t want to repeat. The preferred course, he said, is to spare the baby the ordeal and treat parents early in the pregnancy.

But in some places, providers aren’t routinely testing for syphilis. Although most states mandate testing at some point during pregnancy, as of last year just 14 required it for everyone in the third trimester. The CDC recommends third-trimester testing in areas with high rates of syphilis, a growing share of the United States.

After Arizona declared a statewide outbreak in 2018, state health officials wanted to know whether widespread testing in the third trimester could have prevented infections. Looking at 18 months of data, analysts found that nearly three-quarters of the more than 200 pregnant women diagnosed with syphilis in 2017 and the first half of 2018 got treatment. That left 57 babies born with syphilis, nine of whom died. The analysts estimated that a third of the infections could have been prevented with testing in the third trimester.

Based on the numbers they saw in those 18 months, officials estimated that screening all women on Medicaid in the third trimester would cost the state $113,300 annually, and that treating all cases of syphilis that screening would catch could be done for just $113. Factoring in the hospitalization costs for infected infants, the officials concluded the additional testing would save the state money.

And yet prevention money has been hard to come by. Taking inflation into account, CDC prevention funding for STDs has fallen 41% since 2003, according to an analysis by the National Coalition of STD Directors. That’s even as cases have risen, leaving public health departments saddled with more work and far less money.

Janine Waters, STD program manager for the state of New Mexico, has watched the unraveling. When Ms. Waters started her career more than 20 years ago, she and her colleagues followed up on every case of chlamydia, gonorrhea, and syphilis reported, not only making sure that people got treatment but also getting in touch with their sexual partners, with the aim of stopping the spread of infection. In a 2019 interview with Kaiser Health News, she said her team was struggling to keep up with syphilis alone, even as they registered with dread congenital syphilis cases surging in neighboring Texas and Arizona.

By 2020, New Mexico had the highest rate of congenital syphilis in the country.

The COVID-19 pandemic drained the remaining resources. Half of health departments across the country discontinued STD fieldwork altogether, diverting their resources to COVID. In California, which for years has struggled with high rates of congenital syphilis, three-quarters of local health departments dispatched more than half of their STD staffers to work on COVID.

As the pandemic ebbs – at least in the short term – many public health departments are turning their attention back to syphilis and other diseases. And they are doing it with reinforcements. Although the Biden administration’s proposed STD prevention budget for 2023 remains flat, the American Rescue Plan Act included $200 million to help health departments boost contact tracing and surveillance for covid and other infectious diseases. Many departments are funneling that money toward STDs.

The money is an infusion that state health officials say will make a difference. But when taking inflation into account, it essentially brings STD prevention funding back to what it was in 2003, said Stephanie Arnold Pang of the National Coalition of STD Directors. And the American Rescue Plan money doesn’t cover some aspects of STD prevention, including clinical services.

The coalition wants to revive dedicated STD clinics, where people can drop in for testing and treatment at little to no cost. Advocates say that would fill a void that has plagued treatment efforts since public clinics closed en masse in the wake of the 2008 recession.

Texas, battling its own pervasive outbreak, will use its share of American Rescue Plan money to fill 94 new positions focused on various aspects of STD prevention. Those hires will bolster a range of measures the state put in place before the pandemic, including an updated data system to track infections, review boards in major cities that examine what went wrong for every case of congenital syphilis, and a requirement that providers test for syphilis during the third trimester of pregnancy. The suite of interventions seems to be working, but it could be a while before cases go down, said Amy Carter, the state’s congenital syphilis coordinator.

“The growth didn’t happen overnight,” Ms. Carter said. “So our prevention efforts aren’t going to have a direct impact overnight either.”

KHN (Kaiser Health News) is a national newsroom that produces in-depth journalism about health issues. Together with Policy Analysis and Polling, KHN is one of the three major operating programs at KFF (Kaiser Family Foundation). KFF is an endowed nonprofit organization providing information on health issues to the nation

For a decade, the number of babies born with syphilis in the United States has surged, undeterred. Data released Apr. 12 by the Centers for Disease Control and Prevention shows just how dire the outbreak has become.

In 2012, 332 babies were born infected with the disease. In 2021, that number had climbed nearly sevenfold, to at least 2,268, according to preliminary estimates. And 166 of those babies died.

About 7% of babies diagnosed with syphilis in recent years have died; thousands of others born with the disease have faced problems that include brain and bone malformations, blindness, and organ damage.

For public health officials, the situation is all the more heartbreaking, considering that congenital syphilis rates reached near-historic modern lows from 2000 to 2012 amid ambitious prevention and education efforts. By 2020, following a sharp erosion in funding and attention, the nationwide case rate was more than seven times that of 2012.

“The really depressing thing about it is we had this thing virtually eradicated back in the year 2000,” said William Andrews, a public information officer for Oklahoma’s sexual health and harm reduction service. “Now it’s back with a vengeance. We are really trying to get the message out that sexual health is health. It’s nothing to be ashamed of.”

Even as caseloads soar, the CDC budget for STD prevention – the primary funding source for most public health departments – has been largely stagnant for two decades, its purchasing power dragged even lower by inflation.

The CDC report on STD trends provides official data on congenital syphilis cases for 2020, as well as preliminary case counts for 2021 that are expected to increase. CDC data shows that congenital syphilis rates in 2020 continued to climb in already overwhelmed states like Texas, California, and Nevada and that the disease is now present in almost every state in the nation. All but three states – Maine, New Hampshire, and Vermont – reported congenital syphilis cases in 2020.

From 2011 to 2020, congenital syphilis resulted in 633 documented stillbirths and infant deaths, according to the new CDC data.

Preventing congenital syphilis – the term used when syphilis is transferred to a fetus in utero – is from a medical standpoint exceedingly simple: If a pregnant woman is diagnosed at least a month before giving birth, just a few shots of penicillin have a near-perfect cure rate for mother and baby. But funding cuts and competing priorities in the nation’s fragmented public health care system have vastly narrowed access to such services.

The reasons pregnant people with syphilis go undiagnosed or untreated vary geographically, according to data collected by states and analyzed by the CDC.

In Western states, the largest share of cases involve women who have received little to no prenatal care and aren’t tested for syphilis until they give birth. Many have substance use disorders, primarily related to methamphetamines. “They’ve felt a lot of judgment and stigma by the medical community,” said Stephanie Pierce, MD, a maternal fetal medicine specialist at the University of Oklahoma, Oklahoma City, who runs a clinic for women with high-risk pregnancies.

In Southern states, a CDC study of 2018 data found that the largest share of congenital syphilis cases were among women who had been tested and diagnosed but hadn’t received treatment. That year, among Black moms who gave birth to a baby with syphilis, 37% had not been treated adequately even though they’d received a timely diagnosis. Among white moms, that number was 24%. Longstanding racism in medical care, poverty, transportation issues, poorly funded public health departments, and crowded clinics whose employees are too overworked to follow up with patients all contribute to the problem, according to infectious disease experts.

Doctors are also noticing a growing number of women who are treated for syphilis but reinfected during pregnancy. Amid rising cases and stagnant resources, some states have focused disease investigations on pregnant women of childbearing age; they can no longer prioritize treating sexual partners who are also infected.

Eric McGrath, MD, a pediatric infectious disease specialist at Wayne State University, Detroit, said that he’d seen several newborns in recent years whose mothers had been treated for syphilis but then were re-exposed during pregnancy by partners who hadn’t been treated.

Treating a newborn baby for syphilis isn’t trivial. Penicillin carries little risk, but delivering it to a baby often involves a lumbar puncture and other painful procedures. And treatment typically means keeping the baby in the hospital for 10 days, interrupting an important time for family bonding.

Dr. McGrath has seen a couple of babies in his career who weren’t diagnosed or treated at birth and later came to him with full-blown syphilis complications, including full-body rashes and inflamed livers. It was an awful experience he doesn’t want to repeat. The preferred course, he said, is to spare the baby the ordeal and treat parents early in the pregnancy.

But in some places, providers aren’t routinely testing for syphilis. Although most states mandate testing at some point during pregnancy, as of last year just 14 required it for everyone in the third trimester. The CDC recommends third-trimester testing in areas with high rates of syphilis, a growing share of the United States.

After Arizona declared a statewide outbreak in 2018, state health officials wanted to know whether widespread testing in the third trimester could have prevented infections. Looking at 18 months of data, analysts found that nearly three-quarters of the more than 200 pregnant women diagnosed with syphilis in 2017 and the first half of 2018 got treatment. That left 57 babies born with syphilis, nine of whom died. The analysts estimated that a third of the infections could have been prevented with testing in the third trimester.

Based on the numbers they saw in those 18 months, officials estimated that screening all women on Medicaid in the third trimester would cost the state $113,300 annually, and that treating all cases of syphilis that screening would catch could be done for just $113. Factoring in the hospitalization costs for infected infants, the officials concluded the additional testing would save the state money.

And yet prevention money has been hard to come by. Taking inflation into account, CDC prevention funding for STDs has fallen 41% since 2003, according to an analysis by the National Coalition of STD Directors. That’s even as cases have risen, leaving public health departments saddled with more work and far less money.

Janine Waters, STD program manager for the state of New Mexico, has watched the unraveling. When Ms. Waters started her career more than 20 years ago, she and her colleagues followed up on every case of chlamydia, gonorrhea, and syphilis reported, not only making sure that people got treatment but also getting in touch with their sexual partners, with the aim of stopping the spread of infection. In a 2019 interview with Kaiser Health News, she said her team was struggling to keep up with syphilis alone, even as they registered with dread congenital syphilis cases surging in neighboring Texas and Arizona.

By 2020, New Mexico had the highest rate of congenital syphilis in the country.

The COVID-19 pandemic drained the remaining resources. Half of health departments across the country discontinued STD fieldwork altogether, diverting their resources to COVID. In California, which for years has struggled with high rates of congenital syphilis, three-quarters of local health departments dispatched more than half of their STD staffers to work on COVID.

As the pandemic ebbs – at least in the short term – many public health departments are turning their attention back to syphilis and other diseases. And they are doing it with reinforcements. Although the Biden administration’s proposed STD prevention budget for 2023 remains flat, the American Rescue Plan Act included $200 million to help health departments boost contact tracing and surveillance for covid and other infectious diseases. Many departments are funneling that money toward STDs.

The money is an infusion that state health officials say will make a difference. But when taking inflation into account, it essentially brings STD prevention funding back to what it was in 2003, said Stephanie Arnold Pang of the National Coalition of STD Directors. And the American Rescue Plan money doesn’t cover some aspects of STD prevention, including clinical services.

The coalition wants to revive dedicated STD clinics, where people can drop in for testing and treatment at little to no cost. Advocates say that would fill a void that has plagued treatment efforts since public clinics closed en masse in the wake of the 2008 recession.

Texas, battling its own pervasive outbreak, will use its share of American Rescue Plan money to fill 94 new positions focused on various aspects of STD prevention. Those hires will bolster a range of measures the state put in place before the pandemic, including an updated data system to track infections, review boards in major cities that examine what went wrong for every case of congenital syphilis, and a requirement that providers test for syphilis during the third trimester of pregnancy. The suite of interventions seems to be working, but it could be a while before cases go down, said Amy Carter, the state’s congenital syphilis coordinator.

“The growth didn’t happen overnight,” Ms. Carter said. “So our prevention efforts aren’t going to have a direct impact overnight either.”

KHN (Kaiser Health News) is a national newsroom that produces in-depth journalism about health issues. Together with Policy Analysis and Polling, KHN is one of the three major operating programs at KFF (Kaiser Family Foundation). KFF is an endowed nonprofit organization providing information on health issues to the nation

For a decade, the number of babies born with syphilis in the United States has surged, undeterred. Data released Apr. 12 by the Centers for Disease Control and Prevention shows just how dire the outbreak has become.

In 2012, 332 babies were born infected with the disease. In 2021, that number had climbed nearly sevenfold, to at least 2,268, according to preliminary estimates. And 166 of those babies died.

About 7% of babies diagnosed with syphilis in recent years have died; thousands of others born with the disease have faced problems that include brain and bone malformations, blindness, and organ damage.

For public health officials, the situation is all the more heartbreaking, considering that congenital syphilis rates reached near-historic modern lows from 2000 to 2012 amid ambitious prevention and education efforts. By 2020, following a sharp erosion in funding and attention, the nationwide case rate was more than seven times that of 2012.

“The really depressing thing about it is we had this thing virtually eradicated back in the year 2000,” said William Andrews, a public information officer for Oklahoma’s sexual health and harm reduction service. “Now it’s back with a vengeance. We are really trying to get the message out that sexual health is health. It’s nothing to be ashamed of.”

Even as caseloads soar, the CDC budget for STD prevention – the primary funding source for most public health departments – has been largely stagnant for two decades, its purchasing power dragged even lower by inflation.

The CDC report on STD trends provides official data on congenital syphilis cases for 2020, as well as preliminary case counts for 2021 that are expected to increase. CDC data shows that congenital syphilis rates in 2020 continued to climb in already overwhelmed states like Texas, California, and Nevada and that the disease is now present in almost every state in the nation. All but three states – Maine, New Hampshire, and Vermont – reported congenital syphilis cases in 2020.

From 2011 to 2020, congenital syphilis resulted in 633 documented stillbirths and infant deaths, according to the new CDC data.

Preventing congenital syphilis – the term used when syphilis is transferred to a fetus in utero – is from a medical standpoint exceedingly simple: If a pregnant woman is diagnosed at least a month before giving birth, just a few shots of penicillin have a near-perfect cure rate for mother and baby. But funding cuts and competing priorities in the nation’s fragmented public health care system have vastly narrowed access to such services.

The reasons pregnant people with syphilis go undiagnosed or untreated vary geographically, according to data collected by states and analyzed by the CDC.

In Western states, the largest share of cases involve women who have received little to no prenatal care and aren’t tested for syphilis until they give birth. Many have substance use disorders, primarily related to methamphetamines. “They’ve felt a lot of judgment and stigma by the medical community,” said Stephanie Pierce, MD, a maternal fetal medicine specialist at the University of Oklahoma, Oklahoma City, who runs a clinic for women with high-risk pregnancies.

In Southern states, a CDC study of 2018 data found that the largest share of congenital syphilis cases were among women who had been tested and diagnosed but hadn’t received treatment. That year, among Black moms who gave birth to a baby with syphilis, 37% had not been treated adequately even though they’d received a timely diagnosis. Among white moms, that number was 24%. Longstanding racism in medical care, poverty, transportation issues, poorly funded public health departments, and crowded clinics whose employees are too overworked to follow up with patients all contribute to the problem, according to infectious disease experts.

Doctors are also noticing a growing number of women who are treated for syphilis but reinfected during pregnancy. Amid rising cases and stagnant resources, some states have focused disease investigations on pregnant women of childbearing age; they can no longer prioritize treating sexual partners who are also infected.

Eric McGrath, MD, a pediatric infectious disease specialist at Wayne State University, Detroit, said that he’d seen several newborns in recent years whose mothers had been treated for syphilis but then were re-exposed during pregnancy by partners who hadn’t been treated.

Treating a newborn baby for syphilis isn’t trivial. Penicillin carries little risk, but delivering it to a baby often involves a lumbar puncture and other painful procedures. And treatment typically means keeping the baby in the hospital for 10 days, interrupting an important time for family bonding.

Dr. McGrath has seen a couple of babies in his career who weren’t diagnosed or treated at birth and later came to him with full-blown syphilis complications, including full-body rashes and inflamed livers. It was an awful experience he doesn’t want to repeat. The preferred course, he said, is to spare the baby the ordeal and treat parents early in the pregnancy.

But in some places, providers aren’t routinely testing for syphilis. Although most states mandate testing at some point during pregnancy, as of last year just 14 required it for everyone in the third trimester. The CDC recommends third-trimester testing in areas with high rates of syphilis, a growing share of the United States.

After Arizona declared a statewide outbreak in 2018, state health officials wanted to know whether widespread testing in the third trimester could have prevented infections. Looking at 18 months of data, analysts found that nearly three-quarters of the more than 200 pregnant women diagnosed with syphilis in 2017 and the first half of 2018 got treatment. That left 57 babies born with syphilis, nine of whom died. The analysts estimated that a third of the infections could have been prevented with testing in the third trimester.

Based on the numbers they saw in those 18 months, officials estimated that screening all women on Medicaid in the third trimester would cost the state $113,300 annually, and that treating all cases of syphilis that screening would catch could be done for just $113. Factoring in the hospitalization costs for infected infants, the officials concluded the additional testing would save the state money.

And yet prevention money has been hard to come by. Taking inflation into account, CDC prevention funding for STDs has fallen 41% since 2003, according to an analysis by the National Coalition of STD Directors. That’s even as cases have risen, leaving public health departments saddled with more work and far less money.

Janine Waters, STD program manager for the state of New Mexico, has watched the unraveling. When Ms. Waters started her career more than 20 years ago, she and her colleagues followed up on every case of chlamydia, gonorrhea, and syphilis reported, not only making sure that people got treatment but also getting in touch with their sexual partners, with the aim of stopping the spread of infection. In a 2019 interview with Kaiser Health News, she said her team was struggling to keep up with syphilis alone, even as they registered with dread congenital syphilis cases surging in neighboring Texas and Arizona.

By 2020, New Mexico had the highest rate of congenital syphilis in the country.

The COVID-19 pandemic drained the remaining resources. Half of health departments across the country discontinued STD fieldwork altogether, diverting their resources to COVID. In California, which for years has struggled with high rates of congenital syphilis, three-quarters of local health departments dispatched more than half of their STD staffers to work on COVID.

As the pandemic ebbs – at least in the short term – many public health departments are turning their attention back to syphilis and other diseases. And they are doing it with reinforcements. Although the Biden administration’s proposed STD prevention budget for 2023 remains flat, the American Rescue Plan Act included $200 million to help health departments boost contact tracing and surveillance for covid and other infectious diseases. Many departments are funneling that money toward STDs.

The money is an infusion that state health officials say will make a difference. But when taking inflation into account, it essentially brings STD prevention funding back to what it was in 2003, said Stephanie Arnold Pang of the National Coalition of STD Directors. And the American Rescue Plan money doesn’t cover some aspects of STD prevention, including clinical services.

The coalition wants to revive dedicated STD clinics, where people can drop in for testing and treatment at little to no cost. Advocates say that would fill a void that has plagued treatment efforts since public clinics closed en masse in the wake of the 2008 recession.

Texas, battling its own pervasive outbreak, will use its share of American Rescue Plan money to fill 94 new positions focused on various aspects of STD prevention. Those hires will bolster a range of measures the state put in place before the pandemic, including an updated data system to track infections, review boards in major cities that examine what went wrong for every case of congenital syphilis, and a requirement that providers test for syphilis during the third trimester of pregnancy. The suite of interventions seems to be working, but it could be a while before cases go down, said Amy Carter, the state’s congenital syphilis coordinator.

“The growth didn’t happen overnight,” Ms. Carter said. “So our prevention efforts aren’t going to have a direct impact overnight either.”

KHN (Kaiser Health News) is a national newsroom that produces in-depth journalism about health issues. Together with Policy Analysis and Polling, KHN is one of the three major operating programs at KFF (Kaiser Family Foundation). KFF is an endowed nonprofit organization providing information on health issues to the nation

Many neurocognitive disorders only present a phenotype after birth. Sukenik-Halevy et al sought to examine the ability to detect prenatal phenotypes in patients with a postnatally diagnosed neurocognitive syndrome and confirmed genetic diagnosis on ES. The team was not able to identify any specific prenatal phenotype associated with their cases of postnatally diagnosed neurocognitive syndromes. The interesting finding of this study is that, of the 122 patients studied, 35.3% (43) had no abnormal sonographic findings that could have been detected prenatally to suggest the need for ES testing. ES is typically used in a prenatal setting for fetuses with anomalies that have a normal KT and CMA. The results of this study raise the question of offering ES to all patients considering diagnostic genetic testing regardless of the indication, as it may be the only way to diagnose some cases of neurocognitive disorders prenatally.

Cell-free fetal DNA (cff DNA) testing for trisomy 21, 18, and 13 has classically be used for high-risk pregnant patients seeking aneuploidy screening. Dar et al sought to examine this type of testing in a low-risk population. They studied, prospectively, the performance of cff DNA testing for trisomy 21, 18, and 13 in both low and high-risk pregnant women with confirmation of results on diagnostic genetic testing. Negative predictive values (NPV) for both the low and high-risk groups were greater than 99.9%. Positive predictive value (PPV) was lower for the low-risk group in comparison to the high-risk group, with it important to note that PPV drops from 96.4% in the high-risk group to 81.8% in the low-risk group for trisomy 21. This means that low-risk patients with a positive result on cff DNA testing are at a higher risk for a false positive than patients at high-risk for an aneuploid fetus. This study shows the mounting evidence that cff DNA can be used in a low-risk population given the high NPV. Providers do still need to note the lower PPV with low-risk population patients and always offer diagnostic genetic testing with any abnormal cff DNA test result.

Many neurocognitive disorders only present a phenotype after birth. Sukenik-Halevy et al sought to examine the ability to detect prenatal phenotypes in patients with a postnatally diagnosed neurocognitive syndrome and confirmed genetic diagnosis on ES. The team was not able to identify any specific prenatal phenotype associated with their cases of postnatally diagnosed neurocognitive syndromes. The interesting finding of this study is that, of the 122 patients studied, 35.3% (43) had no abnormal sonographic findings that could have been detected prenatally to suggest the need for ES testing. ES is typically used in a prenatal setting for fetuses with anomalies that have a normal KT and CMA. The results of this study raise the question of offering ES to all patients considering diagnostic genetic testing regardless of the indication, as it may be the only way to diagnose some cases of neurocognitive disorders prenatally.

Cell-free fetal DNA (cff DNA) testing for trisomy 21, 18, and 13 has classically be used for high-risk pregnant patients seeking aneuploidy screening. Dar et al sought to examine this type of testing in a low-risk population. They studied, prospectively, the performance of cff DNA testing for trisomy 21, 18, and 13 in both low and high-risk pregnant women with confirmation of results on diagnostic genetic testing. Negative predictive values (NPV) for both the low and high-risk groups were greater than 99.9%. Positive predictive value (PPV) was lower for the low-risk group in comparison to the high-risk group, with it important to note that PPV drops from 96.4% in the high-risk group to 81.8% in the low-risk group for trisomy 21. This means that low-risk patients with a positive result on cff DNA testing are at a higher risk for a false positive than patients at high-risk for an aneuploid fetus. This study shows the mounting evidence that cff DNA can be used in a low-risk population given the high NPV. Providers do still need to note the lower PPV with low-risk population patients and always offer diagnostic genetic testing with any abnormal cff DNA test result.

Many neurocognitive disorders only present a phenotype after birth. Sukenik-Halevy et al sought to examine the ability to detect prenatal phenotypes in patients with a postnatally diagnosed neurocognitive syndrome and confirmed genetic diagnosis on ES. The team was not able to identify any specific prenatal phenotype associated with their cases of postnatally diagnosed neurocognitive syndromes. The interesting finding of this study is that, of the 122 patients studied, 35.3% (43) had no abnormal sonographic findings that could have been detected prenatally to suggest the need for ES testing. ES is typically used in a prenatal setting for fetuses with anomalies that have a normal KT and CMA. The results of this study raise the question of offering ES to all patients considering diagnostic genetic testing regardless of the indication, as it may be the only way to diagnose some cases of neurocognitive disorders prenatally.

Cell-free fetal DNA (cff DNA) testing for trisomy 21, 18, and 13 has classically be used for high-risk pregnant patients seeking aneuploidy screening. Dar et al sought to examine this type of testing in a low-risk population. They studied, prospectively, the performance of cff DNA testing for trisomy 21, 18, and 13 in both low and high-risk pregnant women with confirmation of results on diagnostic genetic testing. Negative predictive values (NPV) for both the low and high-risk groups were greater than 99.9%. Positive predictive value (PPV) was lower for the low-risk group in comparison to the high-risk group, with it important to note that PPV drops from 96.4% in the high-risk group to 81.8% in the low-risk group for trisomy 21. This means that low-risk patients with a positive result on cff DNA testing are at a higher risk for a false positive than patients at high-risk for an aneuploid fetus. This study shows the mounting evidence that cff DNA can be used in a low-risk population given the high NPV. Providers do still need to note the lower PPV with low-risk population patients and always offer diagnostic genetic testing with any abnormal cff DNA test result.

Key clinical point: Although high first‐trimester glycated hemoglobin (HbA_1c) levels are predictive of gestational diabetes mellitus (GDM), they cannot ensure effective GDM diagnosis owing to subpar sensitivity or specificity.

Main finding: An HbA_1c cutoff value of 4.85% ruled out GDM with a diagnostic sensitivity, specificity, negative predictive value (NPV), and positive predictive value (PPV) of 92.2%, 32.8%, 95.5%, and 21.2%, respectively, whereas HbA_1c cutoff value of 5.45% for diagnosing GDM decreased sensitivity (54.8%) while increasing specificity (96.8%), with the NPV and PPV being 91.5% and 76.8%, respectively.

Study details: The data are derived from a single-center prospective study including 700 singleton pregnant women over 18 years of age who did not have type I or II diabetes mellitus.

Disclosures: The study was not funded by any source. The authors reported having no conflicts of interest.

Source: Valadan M et al. BMC Pregnancy Childbirth. 2022;22:71 (Jan 27). Doi: 10.1186/s12884-021-04330-2.

Key clinical point: Although high first‐trimester glycated hemoglobin (HbA_1c) levels are predictive of gestational diabetes mellitus (GDM), they cannot ensure effective GDM diagnosis owing to subpar sensitivity or specificity.

Main finding: An HbA_1c cutoff value of 4.85% ruled out GDM with a diagnostic sensitivity, specificity, negative predictive value (NPV), and positive predictive value (PPV) of 92.2%, 32.8%, 95.5%, and 21.2%, respectively, whereas HbA_1c cutoff value of 5.45% for diagnosing GDM decreased sensitivity (54.8%) while increasing specificity (96.8%), with the NPV and PPV being 91.5% and 76.8%, respectively.

Study details: The data are derived from a single-center prospective study including 700 singleton pregnant women over 18 years of age who did not have type I or II diabetes mellitus.

Disclosures: The study was not funded by any source. The authors reported having no conflicts of interest.

Source: Valadan M et al. BMC Pregnancy Childbirth. 2022;22:71 (Jan 27). Doi: 10.1186/s12884-021-04330-2.

Key clinical point: Although high first‐trimester glycated hemoglobin (HbA_1c) levels are predictive of gestational diabetes mellitus (GDM), they cannot ensure effective GDM diagnosis owing to subpar sensitivity or specificity.

Main finding: An HbA_1c cutoff value of 4.85% ruled out GDM with a diagnostic sensitivity, specificity, negative predictive value (NPV), and positive predictive value (PPV) of 92.2%, 32.8%, 95.5%, and 21.2%, respectively, whereas HbA_1c cutoff value of 5.45% for diagnosing GDM decreased sensitivity (54.8%) while increasing specificity (96.8%), with the NPV and PPV being 91.5% and 76.8%, respectively.

Study details: The data are derived from a single-center prospective study including 700 singleton pregnant women over 18 years of age who did not have type I or II diabetes mellitus.

Disclosures: The study was not funded by any source. The authors reported having no conflicts of interest.

Source: Valadan M et al. BMC Pregnancy Childbirth. 2022;22:71 (Jan 27). Doi: 10.1186/s12884-021-04330-2.