Invasive fetal testing is indicated for pregnancies at elevated risk of genetic abnormalities; however, the optimal testing strategy is unknown. SMFM recommends chromosomal microarray (CMA) in cases where fetal anomalies are identified. Otherwise, the choice between CMA and karyotype is unclear. The option of a rapidly resulting test such as FISH is omitted from guidelines. We hypothesize that a FISH-based reflex testing strategy with FISH followed by karyotype for abnormal FISH results and CMA for normal FISH results will yield shorter time to results and lower cost to the patient and health system. We conducted a retrospective cohort analysis from a single health system over 2 years to compare the result wait time and determine cost per patient for different testing strategies. Two strategies were used during this interval: a guideline-based strategy with the option of FISH based on clinical scenario and a FISH-based reflex strategy. Actionable results were defined as either an abnormal FISH result or CMA/karyotype result if normal FISH. Diagnostic results were defined as the final diagnostic test result. Descriptive statistics were used to compare demographic characteristics between the two strategies. Outcomes were compared using the t-test. Cost analysis was performed using 2018 costs as billed to insurers. Eighty-six patients were included in this study with 36 in the reflex strategy and 50 in the guideline strategy. Demographic characteristics between testing strategies were similar, including maternal age and indication for testing. Actionable results were reported sooner for the reflex-based strategy (9.5 ± 8.5 vs 10.5 ± 4.9 days, p = 0.48). Diagnostic results were reported sooner for the guideline-based strategy (10.7 ± 4.9 vs 12.4 ± 6.7 days, p = 0.21). Additionally, the costs per patient were significantly less for the guideline-based strategy ($1637 vs $2134, p = 0.02). A prenatal diagnostic testing strategy based on SMFM guidelines is associated with lower costs. The time to actionable and diagnostic results was similar between a guideline-based and reflex-based strategy; however, the shorter actionable result time noted in a reflex-based strategy may be clinically significant if testing is performed in time-sensitive scenarios. These results advocate for inclusion of recommendations regarding FISH testing in future SMFM guidelines.

OBJECTIVE:To identify maternal clinical risk factors for postcesarean maternal infection in a randomized clinical trial of preincision extended-spectrum antibiotic prophylaxis.METHODS:We conducted a planned secondary analysis of a randomized clinical trial. Patients were 24 weeks of gestation or greater and delivered by cesarean after a minimum of 4 hours of ruptured membranes or labor. All participants received standard preincision prophylaxis and were randomized to receive azithromycin or placebo. The primary outcome for this analysis is maternal infection: a composite outcome of endometritis, wound infection (superficial or deep), or other infections occurring up to 6 weeks postpartum. Maternal clinical characteristics associated with maternal infection, after controlling for azithromycin assignment, were identified. These maternal factors were included in a multivariable logistic regression model for maternal infection.RESULTS:Of 2,013 patients, 1,019 were randomized to azithromycin. Overall, 177 (8.8%) had postcesarean maternal infection. In the final adjusted model, compared with the reference groups, women of black race-ethnicity, with a nontransverse uterine incision, with duration of membrane rupture greater than 6 hours, and surgery duration greater than 49 minutes, were associated higher odds of maternal infection (all with adjusted odds ratios [ORs] of approximately 2); azithromycin was associated with lower odds of maternal infection (adjusted OR 0.4, 95% confidence interval 0.3-0.6).CONCLUSION:Despite preincision azithromycin-based extended-spectrum antibiotic prophylaxis, postcesarean maternal infection remains a significant source of morbidity. Recognition of risk factors may help guide innovative prevention strategies.CLINICAL TRIAL REGISTRATION:ClinicalTrials.gov, https://clinicaltrials.gov, NCT012235546.

Objective To estimate the association between the severity of idiopathic polyhydramnios and adverse outcomes. Study Design Retrospective cohort study of deliveries at one hospital from 2000 to 2012 with an amniotic fluid index (AFI) measurement >= 24 + 0 weeks' gestation. Pregnancies complicated by diabetes, multiples, or fetal anomalies were excluded. Exposure was the degree of polyhydramnios: normal (AFI 5-24 cm), mild (>= 24-30 cm), and moderate-severe (> 30 cm). Primary outcomes were perinatal mortality, neonatal intensive care unit (NICU) admission, and postpartum hemorrhage. Results There were 10,536 pregnancies: 10,188 with a normal AFI, 274 mild (78.74%), and 74 moderate-severe polyhydramnios (21.26%). Adverse outcomes were increased with idiopathic polyhydramnios: NICU admission (adjusted odds ratio [AOR] 3.71, 95% confidence interval [CI] 2.77-4.99), postpartum hemorrhage (AOR 15.81, 95% CI 7.82-31.96), macrosomia (AOR 3.41, 95% CI 2.61-4.47), low 5-minute Apgar score (AOR 2.60, 95% CI 1.57-4.30), and cesarean (AOR 2.16, 95% CI 1.74-2.69). There were increasing odds of macrosomia (mild: AOR 3.19, 95% CI 2.36-4.32; moderate-severe: AOR 4.44, 95% CI 2.53-7.79) and low 5-minute Apgar score (mild: AOR 2.24, 95% CI 1.23-4.08; moderate-severe: AOR 3.93, 95% CI 1.62-9.55) with increasing severity of polyhydramnios. Conclusion Idiopathic polyhydramnios is independently associated with increased risks of morbidity. There appears to be a dose-response relationship for neonatal macrosomia and low 5-minute Apgar score risks.

Aims: To develop a predictive model for assessing the risk of developing neonatal respiratory morbidity using lamellar body counts (LBCs) and gestational age (GA) to provide a more patient-specific assessment.Methods: Retrospective cohort study of patients' >= 32 weeks' gestation who received amniocentesis with LBC analysis over a 9-year period. Respiratory morbidity was defined as respiratory distress syndrome, transient tachypnea of the newborn or oxygen requirement for >24 h. Logistic regression analyses were used to predict the absolute risk and odds of respiratory morbidity as a function of GA and lamellar body count.Results: Two hundred and sixty-seven mother-infant pairs included in the analysis with 32 cases (12.0%) of respiratory morbidity. When compared to those without respiratory morbidity, neonates with respiratory morbidity had amniocentesis performed at an earlier median GA, had lower mean birthweight and had lower median LBC (P < 0.01). The GA specific absolute risks and odds ratios for the presence of respiratory morbidity were calculated. The predicted absolute risks of neonatal respiratory morbidity ranged from 38% at 32 weeks to 6% at 40 weeks when LBC were 35,000/mu L.Conclusion: GA specific predicted risk of neonatal respiratory morbidity using LBC provides a statistical model, which can aid clinicians in individually counseling patients regarding the absolute risk of their neonate developing respiratory morbidity.

ObjectiveTo identify maternal clinical risk factors for post-cesarean surgical site infection (SSI) following pre-incision azithromycin-based extended spectrum antibiotic prophylaxis.Study DesignThis is a secondary analysis of an RCT that tested the effect of extended spectrum antibiotic prophylaxis with azithromycin on SSI following non-elective cesarean. Subjects were > 24 weeks and delivered by cesarean section following a minimum of 4 hours of labor or ruptured membranes (ROM). All subjects received standard cephalosporin (or clindamycin) prophylaxis and were randomized to additionally receive azithromycin (500mg in 250ml of saline) or placebo (250cc of saline). Maternal clinical characteristics were chart abstracted. The primary outcome was SSI, defined as a composite of endometritis, superficial or deep wound infection, and pelvic abscess. Univariate analysis of maternal clinical factors identified those associated with SSI. Multivariable analysis by logistic regression and backward elimination (p>.05) was used to determine significant risk factors in a final model.Results2013 subjects were enrolled and 1019 randomized to azithromycin. Overall, 177 (8.8%) had SSI. Black race/ethnicity; BMI >30; ROM duration> 6 hours; surgery duration> 50 minutes; IUPC use; vertical skin incision, and induced labor, were associated with SSI. Increasing maternal age, private insurance, and azithromycin were protective. In the adjusted model, Black race/ethnicity, and ROM and surgery duration remained significant risk factors for SSI.Conclusion ObjectiveTo identify maternal clinical risk factors for post-cesarean surgical site infection (SSI) following pre-incision azithromycin-based extended spectrum antibiotic prophylaxis. To identify maternal clinical risk factors for post-cesarean surgical site infection (SSI) following pre-incision azithromycin-based extended spectrum antibiotic prophylaxis. Study DesignThis is a secondary analysis of an RCT that tested the effect of extended spectrum antibiotic prophylaxis with azithromycin on SSI following non-elective cesarean. Subjects were > 24 weeks and delivered by cesarean section following a minimum of 4 hours of labor or ruptured membranes (ROM). All subjects received standard cephalosporin (or clindamycin) prophylaxis and were randomized to additionally receive azithromycin (500mg in 250ml of saline) or placebo (250cc of saline). Maternal clinical characteristics were chart abstracted. The primary outcome was SSI, defined as a composite of endometritis, superficial or deep wound infection, and pelvic abscess. Univariate analysis of maternal clinical factors identified those associated with SSI. Multivariable analysis by logistic regression and backward elimination (p>.05) was used to determine significant risk factors in a final model. This is a secondary analysis of an RCT that tested the effect of extended spectrum antibiotic prophylaxis with azithromycin on SSI following non-elective cesarean. Subjects were > 24 weeks and delivered by cesarean section following a minimum of 4 hours of labor or ruptured membranes (ROM). All subjects received standard cephalosporin (or clindamycin) prophylaxis and were randomized to additionally receive azithromycin (500mg in 250ml of saline) or placebo (250cc of saline). Maternal clinical characteristics were chart abstracted. The primary outcome was SSI, defined as a composite of endometritis, superficial or deep wound infection, and pelvic abscess. Univariate analysis of maternal clinical factors identified those associated with SSI. Multivariable analysis by logistic regression and backward elimination (p>.05) was used to determine significant risk factors in a final model. Results2013 subjects were enrolled and 1019 randomized to azithromycin. Overall, 177 (8.8%) had SSI. Black race/ethnicity; BMI >30; ROM duration> 6 hours; surgery duration> 50 minutes; IUPC use; vertical skin incision, and induced labor, were associated with SSI. Increasing maternal age, private insurance, and azithromycin were protective. In the adjusted model, Black race/ethnicity, and ROM and surgery duration remained significant risk factors for SSI. 2013 subjects were enrolled and 1019 randomized to azithromycin. Overall, 177 (8.8%) had SSI. Black race/ethnicity; BMI >30; ROM duration> 6 hours; surgery duration> 50 minutes; IUPC use; vertical skin incision, and induced labor, were associated with SSI. Increasing maternal age, private insurance, and azithromycin were protective. In the adjusted model, Black race/ethnicity, and ROM and surgery duration remained significant risk factors for SSI. Conclusion

PURPOSE:Massively parallel sequencing to detect fetal aneuploidy has high sensitivity and specificity for the detection of trisomies 21, 18, and 13 in high-risk populations. The purpose of our study was to review our institution's experience with the use of noninvasive prenatal testing for aneuploidy screening.METHODS:This was a descriptive study of patients who had undergone noninvasive prenatal testing between January and September 2012 at the UNC Prenatal Diagnosis unit.RESULTS:Two hundred and eight women had undergone noninvasive prenatal testing during the study period. The majority of patients were white (62.9%) and of advanced maternal age (71.2%). The fetal fraction was below the threshold in three obese patients (1.4%). An abnormal noninvasive prenatal test (aneuploidy detected or "unclassified" result) was reported in 6.3% (13/208) of the patients. Noninvasive prenatal testing had a combined sensitivity of 87.5% and specificity of 99.5% for detection of trisomies 21, 18, and 13. There were "unclassified" results in 11.1% (5/45) of the patients. Over the study period, the number of patients requesting noninvasive prenatal testing increased monthly. The rate of amniocenteses significantly declined (8.1% before vs. 5.3% after noninvasive prenatal testing, P < 0.01).CONCLUSION:An increase in uptake of noninvasive prenatal testing and a significant decline in amniocentesis procedures were observed. The rates of "unclassified," false-positive, and false-negative results were higher than anticipated based on published preclinical trials.

Abdominal circumference (AC) < 10th tile has been associated with a risk of fetal growth restriction. The association of isolated AC < 10th % tile in the second trimester with later fetal growth abnormalities is unclear. The purpose of this study is to determine if an isolated second trimester AC < 10th percentile is associated with birthweight < 5th or < 10th % tile. A retrospective cohort of women undergoing prenatal US, 2002-2012, was examined. The exposure was defined as singleton pregnancies undergoing 'anatomic' ultrasound between 17 0/7 - 26 6/7 wk EGA with finding of normal composite biometry and AC < 10th % tile for EGA (isolated AC < 10th % tile). Five temporally associated, similar EGA, US procedures with normal biometry and AC were selected as controls. Subjects were excluded for congenital anomaly, aneuploidy, stillbirth, uterine anomaly, absent delivery data, or birth < 23 wk EGA. Primary outcomes include BW less < 10th and < 5th % tile for EGA. Statistical analysis by χ2 and Mann-Whitney U as appropriate; logistic regression estimated OR for BW < 10th and < 5th for iAC < 10th % tile, with aOR including variables significant in univariate analysis. Analysis with SPSS 22, 2013. Both groups were similar in maternal age, nulliparity, primigravidity, smoking, and maternal/obstetrical complications. iAC < 10th %tile was associated with higher proportion of Black race, lower proportion of Hispanic ethnicity, higher rate of substance use. Proportion of neonates with BW < 5th % and < 10th % tile were significantly greater in iAC<10th %tile (Table). As expected, iAC<10th % tile was associated with earlier GA at birth and lower BW. After adjustment for race and substance use, iAC < 10th % tile remained significantly associated with BW < 5th and < 10th % tile. Isolated AC less than the 10th percentile in the midtrimester is associated with SGA neonates. This data suggests that follow up screening for growth abnormalities for iAC < 10th % tile should be considered.

Both preeclampsia and regional anesthesia can alter placental perfusion, potentially affecting the neonatal status. We hypothesized that the more rapid hypotension induced by spinal anesthesia would decrease placental perfusion and increase short-term neonatal morbidity, compared with epidural or combined spinal-epidural anesthesia (CSE) in women with preeclampsia. We performed a secondary analysis of the Maternal Fetal Medicine Units Network Cesarean registry, a 3-year (1999-2001) observational cohort study. Singleton gestations with a diagnosis of preeclampsia and underwent primary or repeat cesarean delivery with regional anesthetic were included in the analysis. We used logistic regression to adjust for confounding variables when comparing neonatal outcomes between the groups. 4100 patients were included in the analysis. 1696 (41.4%) received a spinal 1848 (45.1%), received an epidural and 556 (13.5%) received a CSE. Gestational age at delivery, maternal age, number of previous cesareans, and indication for cesarean delivery significantly differed between the groups (p< 0.01). Intrapartum characteristics including treatment with magnesium, indication of cesarean delivery, abruption, chorioamnionitis, type of delivery, attempted labor, emergent delivery and interval from incision to delivery also differed between the groups (p≤0.02). With adjustment for these variables, infants were less likely to be admitted to the NICU if the mother received a spinal compared with an epidural or CSE (OR; 95% CI: 0.79; 0.63-0.98, 0.71; 0.53-0.94, respectively) (Table 1). Infants were less likely to have a 5 minute APGAR <7 if mother received a spinal compared with an epidural (OR 0.59; 0.43-0.83) (Table 1). We found no differences in arterial cord pH ≤7.2 (Table 1). Contrary to our hypothesis, we found that spinal anesthesia was associated with reduced short-term neonatal morbidity, compared with epidural or CSE, in a multicenter sample of women with preeclampsia delivering via cesarean.Tabled 1Neonatal outcomes by type of regional anesthesia*Adjusted for maternal age, birthweight, gestational age at delivery, number of prior cesareans, time between incision and delivery, type of delivery, magnesium treatment, race, abruption, attempted labor, chorioamnionitis, emergency delivery and indication for cesarean. Open table in a new tab

ObjectiveUniversal transvaginal cervical length (TVCL) measurement has been recommended by some experts in light of recent evidence supporting interventions to reduce preterm birth in asymptomatic women with a shortened cervix. The sensitivity of transabdominal cervical length (TACL) to detect a shortened cervix remains largely unknown. The purpose of this study was to assess the ability of TACL to detect a TVCL ≤25mm.Study DesignWe performed a prospective evaluation of universal TA and TVCL screening. During a three month period, all women presenting for ultrasound at 16-24 weeks gestation at the UNC Prenatal Diagnostics Unit received both TA and TV cervical length evaluation. A standard protocol for acquisition of TA and TVCL was instituted that included measurement of TACL prior to TVCL. At the end of the three month period, all ultrasounds were reviewed. The shortest TA and TV cervical lengths obtained were used for analysis. The additional time spent acquiring the TVCL was defined as the difference in time between the last TA image and the last TV image.Results686 of 1164 women (58.9%) underwent assessment of both TACL and TVCL. Median TACL and TVCL were 38 mm (IQR 33-32) and 41 mm (IQR 36-47), respectively. Mean difference between TA and TVCL was 3.5 mm (95% CI 2.8-4.1). In our sample, 15 women (2.2%) had a TVCL ≤25 mm, among whom 7 (47%) had a TACL ≤25 mm (Table). 442 women had a TACL ≤40 mm. We found that a TACL ≤40 mm was 100% sensitive (95% CI 79.4-100%) for detection of a transvaginal CL ≤25 mm, with a number needed to screen of 28. The median additional total time required to complete the TVCL was 8.7 minutes (IQR 6.9-10.9). If all women with TACL ≤40mm underwent TVCL assessment, we estimated that it would require 4 hours of additional ultrasound time to detect an additional case of CL ≤25 mm.Tabled 1Transabdominal CL detection of transvaginal CL ≤25mmConclusionTACL ≤40 mm detected all women with a TVCL ≤25 mm in our population. TA evaluation of the cervix may reduce the number of TV scans needed to detect a clinically significant short cervix. ObjectiveUniversal transvaginal cervical length (TVCL) measurement has been recommended by some experts in light of recent evidence supporting interventions to reduce preterm birth in asymptomatic women with a shortened cervix. The sensitivity of transabdominal cervical length (TACL) to detect a shortened cervix remains largely unknown. The purpose of this study was to assess the ability of TACL to detect a TVCL ≤25mm. Universal transvaginal cervical length (TVCL) measurement has been recommended by some experts in light of recent evidence supporting interventions to reduce preterm birth in asymptomatic women with a shortened cervix. The sensitivity of transabdominal cervical length (TACL) to detect a shortened cervix remains largely unknown. The purpose of this study was to assess the ability of TACL to detect a TVCL ≤25mm. Study DesignWe performed a prospective evaluation of universal TA and TVCL screening. During a three month period, all women presenting for ultrasound at 16-24 weeks gestation at the UNC Prenatal Diagnostics Unit received both TA and TV cervical length evaluation. A standard protocol for acquisition of TA and TVCL was instituted that included measurement of TACL prior to TVCL. At the end of the three month period, all ultrasounds were reviewed. The shortest TA and TV cervical lengths obtained were used for analysis. The additional time spent acquiring the TVCL was defined as the difference in time between the last TA image and the last TV image. We performed a prospective evaluation of universal TA and TVCL screening. During a three month period, all women presenting for ultrasound at 16-24 weeks gestation at the UNC Prenatal Diagnostics Unit received both TA and TV cervical length evaluation. A standard protocol for acquisition of TA and TVCL was instituted that included measurement of TACL prior to TVCL. At the end of the three month period, all ultrasounds were reviewed. The shortest TA and TV cervical lengths obtained were used for analysis. The additional time spent acquiring the TVCL was defined as the difference in time between the last TA image and the last TV image. Results686 of 1164 women (58.9%) underwent assessment of both TACL and TVCL. Median TACL and TVCL were 38 mm (IQR 33-32) and 41 mm (IQR 36-47), respectively. Mean difference between TA and TVCL was 3.5 mm (95% CI 2.8-4.1). In our sample, 15 women (2.2%) had a TVCL ≤25 mm, among whom 7 (47%) had a TACL ≤25 mm (Table). 442 women had a TACL ≤40 mm. We found that a TACL ≤40 mm was 100% sensitive (95% CI 79.4-100%) for detection of a transvaginal CL ≤25 mm, with a number needed to screen of 28. The median additional total time required to complete the TVCL was 8.7 minutes (IQR 6.9-10.9). If all women with TACL ≤40mm underwent TVCL assessment, we estimated that it would require 4 hours of additional ultrasound time to detect an additional case of CL ≤25 mm.Tabled 1Transabdominal CL detection of transvaginal CL ≤25mm 686 of 1164 women (58.9%) underwent assessment of both TACL and TVCL. Median TACL and TVCL were 38 mm (IQR 33-32) and 41 mm (IQR 36-47), respectively. Mean difference between TA and TVCL was 3.5 mm (95% CI 2.8-4.1). In our sample, 15 women (2.2%) had a TVCL ≤25 mm, among whom 7 (47%) had a TACL ≤25 mm (Table). 442 women had a TACL ≤40 mm. We found that a TACL ≤40 mm was 100% sensitive (95% CI 79.4-100%) for detection of a transvaginal CL ≤25 mm, with a number needed to screen of 28. The median additional total time required to complete the TVCL was 8.7 minutes (IQR 6.9-10.9). If all women with TACL ≤40mm underwent TVCL assessment, we estimated that it would require 4 hours of additional ultrasound time to detect an additional case of CL ≤25 mm. ConclusionTACL ≤40 mm detected all women with a TVCL ≤25 mm in our population. TA evaluation of the cervix may reduce the number of TV scans needed to detect a clinically significant short cervix. TACL ≤40 mm detected all women with a TVCL ≤25 mm in our population. TA evaluation of the cervix may reduce the number of TV scans needed to detect a clinically significant short cervix.

Clinically useful statistical models have been published to aid clinicians in counseling patients regarding the risk of newborn development of respiratory distress syndrome (RDS) using laboratory assessments of lung maturity by gestational age. However, such models do not exist for milder forms of neonatal respiratory morbidity, such as transient tachypnea of the newborn (TTN) and prolonged oxygen requirement. We aimed to develop a predictive model to assess the risk of developing any neonatal respiratory morbidity using gestational age and lamellar body count (LBC). We performed a retrospective cohort study of patients who received a transabdominal amniocentesis with LBC analysis using the Advia 120 and 2120 hematology analyzers at UNC Hospitals between 2003 and 2012. Exclusion criteria included delivery >72 hours after amniocentesis, major fetal congenital anomaly, gestational age <32 weeks or outcome data not available. Respiratory morbidity was defined as development of RDS, TTN and/or oxygen requirement for greater than 24 hours. A standardized definition was used to define RDS and TTN using clinical laboratory and radiographic findings. Logistic regression was used to predict the probability of neonatal morbidity at each week of gestation based upon the LBC. 267 mother-infant pairs were included in the analysis. The median gestational age at the time of amniocentesis was 37 weeks (IQR 36-38) and the mean birthweight was 3094g (SD ±698). Respiratory morbidity occurred in 32 cases (12%), including 9 cases (3.4%) of RDS, 22 cases (8.2%) of TTN, and 17 cases (6.4%) requiring supplemental oxygen for >24hours. The predicted probability of neonatal respiratory morbidity by gestational age is summarized in Table 1. Gestational age-specific predicted risk of neonatal respiratory morbidity using LBC can aid clinicians in counseling patients regarding the absolute risk of their newborn developing respiratory morbidity.Tabled 1Absolute risk (%) of neonatal respiratory morbidity based on LBC and GA using predicted probabilities Open table in a new tab

Massively parallel sequencing to detect fetal aneuploidy has been shown to have high sensitivity and specificity for detection of trisomies 21, 18, and 13 with a cumulative rate of 2.63% for unclassified samples in a high risk population. The purpose of our study was to review our institution's experience with the use of NIPT for aneuploidy screening. Patients who received NIPT between 1/2012 and 7/2012 at the UNC Prenatal Diagnosis unit were identified. Two different laboratories were used during this period. Maternal demographics, prenatal aneuploidy testing results and pregnancy outcomes were reviewed. 102 women received NIPT during the study period. Demographics were mean maternal age of 35.2 yrs (20-47), mean gestational age at the time of the sample of 16wks (10-34) and mean BMI of 27.5 (16.8-48.1). Indications for screening were maternal age ≥35, abnormal serum screen, history of a prior pregnancy with a trisomy, or sonographic finding associated with aneuploidy. An abnormal NIPT occurred in 10/102(9.8%). Aneuploidy was detected on NIPT in 5/102 (4.9%) (4 = chromosome 21; 1 = monosomy 18/trisomy 13). Of samples where unclassified results were a possible outcome, 12.8% (5/39) were reported as unclassified (Table). Of these 10 patients, 7 underwent invasive prenatal diagnostic testing. Aneuploidy was confirmed in 4 patients (3 true positives for trisomy 21; 1 unclassified result for trisomy 13 on NIPT showed trisomy 18 on karyotype). There was one false positive with NIPT detecting monosomy 18/trisomy 13, but the patient had a normal karyotype, targeted ultrasound, and microarray. Two patients with unclassified NIPT had second trimester fetal demises.Tabled 1Unclassified NIPT In our single institution experience, there was a high rate of unclassified results and one false positive result. Within the subset of patients with unclassified NIPT results, there were two fetal demises of uncertain etiology. NIPT does not replace the diagnostic precision of CVS or amniocentesis.

OBJECTIVE:Neural tube defects occur in 1/2000 live births. Imaging of the intracranial translucency (IT) during first-trimester screening has been proposed as an early screen for open neural tube defects (ONTD). This study evaluates visualization of the IT and factors influencing its visualization during first-trimester ultrasound screening for aneuploidy.METHODS:Ultrasound images for patients undergoing first-trimester screening for aneuploidy from January 1, 2009, through July 31, 2009, were reviewed for IT visualization, defined as an intracranial translucency parallel to the nuchal translucency. Second-trimester ultrasounds and delivery records were reviewed for the presence of fetal ONTD.RESULTS:The IT was visualized in 74.8% of 759 gestations studied at a mean gestational age of 12 weeks, 5 days. Among gestations where the IT was visualized, we found a larger crown-rump length, lower maternal weight, and more fetuses in the supine position (p < 0.0001). Predictive models for visualization of the IT were formulated based on these factors.CONCLUSION:The IT can be visualized in the majority of patients in the standard midsagittal plane used for measurement of the nuchal translucency. Visualization is significantly associated with crown-rump length, gestational age, maternal weight, and fetal position. Visualization of the IT is feasible.

Purpose To determine if diminished ovarian reserve (measured by maternal antimullerian hormone (AMH) levels), is associated with fetal aneuploidy (determined by prenatal karyotype). Methods This case-control study included 213 women with singleton pregnancies who underwent both serum aneuploidy screening and invasive prenatal diagnosis. 18 patients carrying an aneuploid fetus served as cases and the remaining 195 women with a euploid fetus were controls. Serum AMH was measured using two assays: AMHbc (Beckman-Coulter) and AMHdsl (Diagnostic Systems Laboratories). Karyotypes were determined by chorionic villus sampling or amniocentesis. Results AMHbc levels did not differ between women with an aneuploid fetus and women with a euploid fetus ( p = 0.46) and did not predict aneuploidy (ROC Area = 0.57). Additionally, AMHbc values declined significantly with advancing gestational age. Conclusions Maternal AMH does not appear to be a marker of fetal aneuploidy in ongoing pregnancies. Contrary to previous reports, we found a significant decline in maternal AMH levels with advancing gestational age.