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Objective: To determine the incidence and present our experience with prenatal diagnosis and postnatal outcome of dacryocystocele., Material and Methods: All cases of congenital dacryocystocele diagnosed in our center between 2020 and 2022 were identified in our database to establish the incidence of these defects. The medical records were then reviewed for gestational age, gender, size, and side of dacryocystocele and postnatal outcome., Results: A total of 26 cases with dacryocystoceles were found at a mean gestation age of 30 weeks (range, 29-33 weeks). The overall incidence was 1.35%, there was an obvious female predominance (73%), 69% of cases were unilateral and 31% were bilateral. There were no serious associated anomalies. The postnatal outcome was obtained in 88% of cases (23/26), in 39% (9 out of 23) cases the dacryocystocele was confirmed postnatally, and in 7 (77%) of these it was complicated by dacryocystitis. The spontaneous resolution was more likely in the right-sided lesions, and this was statistically significant. The treatment in cases with dacryocystitis involved massage and local antibiotics and was successful in 71% of cases. 2 cases (29%) suffer from recurrent dacryocystitis and are followed up with recurrent probing and local antibiotics. No breathing difficulties were described postnatally in our study group., Conclusion: The overall prenatal incidence of dacryocystocele was 1.35%. The outcome is favorable, 61% of dacryocystoceles in our study resolved spontaneously and in no case postnatal breathing complications were reported. Dacryocystitis was common in persisting cases but was usually treated successfully by massage and antibiotics. The right-sided dacryocystoceles are more likely to resolve spontaneously than left-sided, and this was the only significant factor predicting persistence., Competing Interests: Declaration of competing interest No declaration of interest., (Copyright © 2024. Published by Elsevier B.V.)

Objective: An ultrasound-based diagnosis implies that some fetuses suspected to be growth-restricted (FGR) are discovered at birth to be appropriately grown (appropriate for gestational age [AGA] birth weight, between the 10th and 90th percentile). These fetuses may thus be exposed to unnecessary medical interventions, including early labor induction. In this study, we have evaluated the long-term respiratory health of offspring misclassified as FGR., Study Design: A population-based cohort analysis was conducted, including deliveries of AGA singletons between 1991 and 2021 at a tertiary referral hospital. Incidence of morbidity due to various respiratory conditions was compared between AGA offspring with prenatal diagnosis of FGR, and those without a false diagnosis of FGR. The Kaplan-Meier approach was used to estimate cumulative morbidity incidence. The stratified Cox proportional-hazards model was used to control for confounders., Results: A total of 324,620 deliveries of AGA newborns were included in the analyses; 3249 of them (1.0%) were misclassified prenatally as FGR. The FGR subgroup delivered at an earlier gestational age (36.7 vs. 39.1 weeks, p < .001) and had more than 25% higher incidence of respiratory-related morbidity during childhood (33.2% vs. 26.5%), specifically related to asthma and obstructive sleep apnea (p < .001 for all). A higher cumulative morbidity rate due to respiratory conditions was observed in the Kaplan-Meier survival curve (log-rank p value < .001). This association between FGR and respiratory morbidity was independent of preterm delivery, maternal age, cesarean delivery, and child's birth year (adjusted hazard ratio = 1.14, 95% confidence interval: 1.07-1.21, p < .001), using a Cox proportional hazards model., Conclusion: AGA newborns misclassified as FGR, are at an increased risk for long-term respiratory morbidity during childhood and adolescence., (© 2024 Wiley Periodicals LLC.)

Introduction: Placental transverse relaxation time (T2) assessed by MRI may have the potential to improve the antenatal identification of small for gestational age. The aims of this study were to provide normal values of placental T2 in relation to gestational age at the time of MRI and to explore the correlation between placental T2 and birthweight., Material and Methods: A mixed cohort of 112 singleton pregnancies was retrieved from our placental MRI research database. MRI was performed at 23.6-41.3 weeks of gestation in a 1.5T system (TE (8): 50-440 ms, TR: 4000 ms). Normal pregnancies were defined by uncomplicated pregnancies with normal obstetric outcome and birthweight deviation within ±1 SD of the expected for gestational age. The correlation between placental T2 and birthweight was investigated using the following outcomes; small for gestational age (birthweight ≤-2 SD of the expected for gestational age) and birthweight deviation (birthweight Z-scores)., Results: In normal pregnancies (n = 27), placenta T2 showed a significant negative linear correlation with gestational age (r = -.91, P = .0001) being 184 ms ± 15.94 ms (mean ± SD) at 20 weeks of gestation and 89 ms ± 15.94 ms at 40 weeks of gestation. Placental T2 was significantly reduced among small-for-gestational-age pregnancies (mean Z-score -1.95, P < .001). Moreover, we found a significant positive correlation between placenta T2 deviation (Z-score) and birthweight deviation (Z-score) (R 2  = .26, P = .0001)., Conclusions: This study provides normal values of placental T2 to be used in future studies on placental MRI. Placental T2 is closely related to birthweight and may improve the antenatal identification of small-for-gestational-age pregnancies., (© 2020 Nordic Federation of Societies of Obstetrics and Gynecology (NFOG). Published by John Wiley & Sons Ltd.)

Background/aim: The aim of this study was to determine fetal nuchal translucency (NT) thickness nomogram values in first trimester in a Turkish population and compare them with previously reported European and Asian nomogram data., Material and Methods: Ultrasonographic measurements of crown-rump length (CRL) and NT thicknesses were obtained from 11 to 14 weeks of gestation in a normal Turkish population. Pregnant women with singleton pregnancy and fetal CRL between 45 and 84 mm were included in the study. The mean 1st, 3rd, 5th, 50th, 90th, 95th, 97th, and 99th percentiles and fixed cut off values of ≥ 2.5 mm, ≥ 3 mm, ≥ 3.5 mm NT thicknesses for a CRL between 45 and 84 mm were determined., Results: A total of 1605 healthy fetuses were enrolled in the study. The sonographic measurements were performed on 1541 (%94) fetuses transabdominally and on 99 cases (%4) by the transvaginal route. The mean NT thickness for CRL between 45 and 84 mm was 1.57 ± 074 mm, and the mean 95th, 97th, and 99th percentiles of these values were 2.82 mm, 3.17, and 4.75 mm, respectively. The incidence of NT thicknesses at fixed points of ≥ 2.5 mm, ≥ 3 mm, and ≥ 3.5 mm in normal fetuses were 6.7%, 4.1%, and 2.1%, respectively., Conclusion: The present study demonstrated the nomogram data of fetal NT thickness in a Turkish population. We think that this report will be useful for further research related to NT thickness values on the prenatal diagnosis for the first trimester chromosomal abnormalities in Turkish populations., Competing Interests: The author declares that there are no conflicts of interest., (This work is licensed under a Creative Commons Attribution 4.0 International License.)

Objectives: We investigated whether prenatal magnetic resonance imaging (MRI) within 26 weeks of gestation (GW) may predict the fate of isolated upward rotation of the cerebellar vermis (URCV)., Methods: This retrospective multicentre observational study included foetuses diagnosed with isolated URCV in prenatal MRI performed within 26 GW. Isolated URCV was defined by a brainstem-vermis angle (BVA) ≥ 12° in the MR midline sagittal view without abnormalities of the supratentorial structures, brainstem, or cerebellum hemispheres. The assessments included the BVA, clival-supraoccipital angle, transverse diameter of the posterior cranial fossa, tentorial angle, width of the cisterna magna (WCM), ventricular width, vermian diameters, hypointense stripes, and cerebellar tail sign. Late prenatal or postnatal MRI was used as a reference standard to assess the final vermian fate (rotated/de-rotated)., Results: Forty-five foetuses (mean GW at prenatal MRI = 21.5 ± 1.4 weeks) were included. In the reference standard, the vermis was de-rotated in 26 cases (57.7%). At least two of the following criteria were used to predict the persistence of URCV at imaging follow-up: BVA ≥ 23°, WCM ≥ 9 mm, and the cerebellar tail sign. The results were a sensitivity of 84.21% (95% CI, 60.4-96.6%), specificity of 80.8% (95% CI, 60.6-93.4%), positive predictive value of 76% (95% CI, 58.7-87.8%), and negative predictive value of 87.5% (95% CI, 70.9-95.2%)., Conclusions: MRI within 26 GW on foetuses diagnosed with isolated URCV may predict delayed cerebellar vermis de-rotation, which is associated with good neurodevelopmental outcome in most cases., Key Points: • Foetal MRI is a valuable tool in predicting the fate of isolated upward-rotated cerebellar vermis. • A wider angle between the brainstem and vermis is associated with higher risk of persistence of vermian rotation. • The presence of ≥ 2 factors among a brainstem-to-vermis angle ≥ 23°, width of the cisterna magna ≥ 9 mm, and the presence of the "cerebellar tail sign" has a sensitivity of 84.21% (95% CI, 60.4-96.6%) and specificity of 80.8% (95% CI, 60.6-93.4%) in predicting the persistence of the vermian rotation at imaging follow-up.

Objective: The objective of this study was to examine the association between gestational age at delivery and closure type for neonates with gastroschisis. In addition, we compared perinatal outcomes among the cases of gastroschisis based on the following two factors: gestational age at delivery and abdominal wall closure technique. Methods: This was a retrospective cohort study of all fetuses with isolated gastroschisis that were diagnosed prenatally and delivered between September 2000 and January 2017, in a single tertiary care center. Neonates were compared based on the gestational age at the time of delivery: early preterm (less than 35 0/7 weeks), late preterm (35 0/7 - 36 6/7 weeks), and early term (37 0/6 - 38 6/7 weeks), using bivariate and multivariate analyses. The primary outcome was the type of abdominal wall closure: primary surgical closure or delayed closure using spring-loaded silo. Secondary outcomes included length of ventilatory support, length of parenteral nutrition, and length of hospital stay. Results: The analysis included 206 pregnancies complicated by gastroschisis. In univariate analysis, no differences were detected in primary closure rates of gastroschisis among the gestational age at delivery groups (67.4%, at <35 weeks, 70.8% at 35 0/7 -36 6/7 weeks, 73.7% at 37 0/6 -38 6/7 weeks, p  = .865). However, for every additional 100 grams of neonatal live birth weight there was an associated 9% increased odds of primary closure (OR 1.09, 95% CI 1.14-1.19, p  = .04). Delivery in the early preterm period compared to the other two groups, was associated with longer duration of ventilation support and longer dependence on the parenteral nutrition. Neonates who underwent primary closure had shorter ventilation support, shorter time to initiation of enteral feeds and to discontinue parenteral nutrition, and shorter length of stay. In multivariate analyses, controlling for gestational age at delivery and presence of bowel atresia, primary closure continued to be associated with the shorter duration of ventilation (by 5 days), earlier initiation of enteral feeds (by 7 days), shorter hospital stay (by 17 days) and lower odds of wound infection (OR = 0.37, 95% CI 0.15-0.97). Conclusions: Our study did not find an association between gestational age at delivery and the rates of primary closure of the abdominal wall defect; however later gestational age at delivery was associated with shorter duration of ventilatory support and parenteral nutrition dependence. In addition, we found that primary closure of gastroschisis, compared with delayed closure technique, was associated with improved neonatal outcomes, including shorter time to initiate enteral feeds and discontinue parenteral nutrition, shorter hospital stay, and lower risk of surgical wound infection. Therefore, postponing delivery of fetuses with gastroschisis until 37 weeks may be considered. Other factors besides the gestational age at delivery should be explored as predictors of primary closure in neonates with gastroschisis.

Objective: To assess whether the cisterna magna (CM) width measured in first-trimester fetuses is a useful marker for aneuploidy detection., Methods: This was a prospective study in 2 different cohorts in a tertiary referral center. The first cohort comprised 913 fetuses from the general pregnancy population during the period 2012-2016 and was used to construct the CM reference ranges applying the λ-μ-σ (LMS) method. The second cohort included 714 high-risk fetuses undergoing chorionic villus sampling during the period 2012-2016. Mean detection rates using the 95th percentile for CM width observed in chromosomal anomaly groups were compared with those obtained in chromosomally normal fetuses., Results: The 50th percentile for CM ranged from 1.66 to 2.75 mm when crown-rump length (CRL) increased from 45 to 84 mm. Among high-risk fetuses, the following chromosomal anomalies were diagnosed in 125 (17%) fetuses: trisomy 21 (n = 63), trisomy 18 or 13 (n = 21), monosomy X (n = 9), submicroscopic anomalies (n = 11), and other anomalies (n = 22). The mean CM width for euploid fetuses was 2.4 mm (1.13 multiples of the median, MoM). While CM width was significantly increased in trisomy 21 (mean 2.7 mm; 1.23 MoM; p > 0.05), no differences were found in the other anomaly groups. Among the 63 fetuses with trisomy 21, a CM width above the 99th percentile was observed in 23 fetuses (37%)., Conclusions: The new reference range for CM width at 11-13 weeks of gestation did not differ from previous studies. In first-trimester fetuses with trisomy 21, CM width appears to be increased, although its value as an ultrasound marker is limited, because of its detection rate of 37%., (© 2019 S. Karger AG, Basel.)

Objective: We purposed to review prenatal diagnoses of ureterocele, to determine the sonographic findings and additional abnormalities, and to illustrate the pregnancy outcomes of these patients., Material and Methods: We reviewed the records of 24 patients with the diagnosis of ureterocele in our referral center between January 2010-March 2017. Prenatal sonographic findings, antenatal course, and postnatal follow-up were obtained., Results: The mean gestational age at first US diagnosis was 24.5 ± 2.9 weeks. 13 (54.1%) of fetuses were female, and 11 (45.9%) were male. Ureterocele was associated with the duplex kidney in 17 (70.8%), MCDK in 5 (20.8%) and hydronephrosis with a single system in 1 (4.2%) and pelvic kidney in 1 (4.2%) fetuses. Postnatal follow-up was achieved in 22 of 24 (91.6%) cases, and mean follow-up interval was 56 ± 14.2. Months. The diagnosis of ureterocele was confirmed in 22 (91.6%) cases postnatally. 15 of 22 (68%) cases were classified as extravesical ureterocele, and 7 (32%) cases were intravesical ureterocele. Postnatal confirmation of duplex kidney achieved in 16 of 17 (94.1%) patients. 17 (77.2%) patients were required surgical intervention, and 5 (22.8%) cases were managed conservatively. 15 of 16 (93.7%) cases who were diagnosed duplex kidney underwent surgery however 2 of 5 (40%) cases which were confirmed MCDK required an operation. Cystoscopic ureterocele incision was the initial approach for the surgical management and performed all of the cases which required surgery. It was curative in 10 of 17 (58.8%) patients and 7 (41.2%) cases needed to further operations. Ureteroselectomy and common-sheath ureteroneocystostomy was performed in 5 (29.1%) cases and. 2 (%11.7%) cases underwent partial nephrectomy., Conclusion: Ureterocele can be accurately diagnosed by prenatal sonography, and it is a significant clue for the diagnosis of a duplex kidney. Postnatal prognosis depends on associated anomaly and presence of reflux and upper pole function., (Copyright © 2019. Published by Elsevier B.V.)

To provide useful information for diagnosing and predicting fetal intraabdominal extralobar pulmonary sequestration (IEPS), a retrospective review of diagnostic approaches was conducted. Ultrasonography was performed serially in 21 fetuses with IEPS from 2005 to 2017. Prenatal sonographic features, treatment, and outcomes of each case were evaluated and collected. These cases of IEPS were also compared to 43 cases previously reported by other researchers from 1986 to 2017. Of the 21 sonographic features, 14 (67%) were hyperechoic, 21 (100%) were well circumscribed, and 17 (81%) depicted a mass that shifted with fetal breaths/hiccups non-synchronized with adjacent organs (sliding sign). Feeding arteries were detected prenatally in 18 patients (86%). The lesion volume was 10.17 ± 4.66 cm 3 , the congenital cystic adenomatoid malformation volume ratio and cardiothoracic ratio were in normal range. The gestational age at diagnosis, location and echotexture of the lesion, and rate of surgical treatment were similar to previous studies, but with a significantly higher rate of detected feeding arteries (P < 0.01), and associated anomalies (P < 0.01). All infants who underwent surgery after birth had satisfactory outcomes. The sliding sign and feeding artery are essential features of IEPS in prenatal diagnosis.

Introduction: Anomalies in cortical development are often associated with an adverse outcome, but prenatal diagnosis is often impeded by the limited knowledge about normal sulci biometries throughout fetal brain development. Our aim was to provide two-dimensional ultrasonographical (2D US) nomograms of the depth of the Sylvian fissure (SF) and insular lobe (IL), as well as of the SF ratio throughout gestation in a large number of fetuses., Materials and Methods: This was a prospective cross-sectional study of 329 normal singleton pregnancies. Measurements of the SF, IL, and SF ratio were obtained in a standard transthalamic plane of the fetal head. The SF ratio was defined as SF\SF + IL. All measurements were expressed by regression equations as a function of gestational age (GA) according to the method described by Royston and Wright. The first 38 measurements were repeated twice by 2 examiners to assess the reproducibility through the intraclass correlation coefficient (ICC)., Results: A significant correlation was found between GA and SF (r = 0.79; p < 0.0001) as well as IL (r = 0.77; p < 0.0001). Similarly, the SF ratio also showed a significant correlation with GA (r = 0.39; p < 0.0001). When interobserver variability was assessed, ICC was 0.97., Conclusions: Prenatal 2D US measurements of SF and IL as well as the SF ratio may be feasible and reproducible using a standard view of the fetal head. Our nomograms may be used as a reference for assessing cortical development throughout pregnancy., (© 2018 S. Karger AG, Basel.)

Purpose: An understanding of the development of the ilium's primary ossification center may be useful in both determining the fetal stage and maturity, and for detecting congenital disorders. This study was performed to quantitatively examine the ilium's primary ossification center with respect to its linear, planar and volumetric parameters., Materials and Methods: Using methods of CT, digital-image analysis and statistics, the size of the ilium's primary ossification center in 42 spontaneously aborted human fetuses of crown-rump length (CRL) ranged from 130 to 265 mm (aged 18-30 weeks) was studied., Results: With no sex and laterality differences, the best fit growth dynamics for the ilium's primary ossification center was modelled by the following functions: y = - 63.138 + 33.413 × ln(CRL) ± 1.609 for its vertical diameter, y = - 59.220 + 31.353 × ln(CRL) ± 1.736 for its transverse diameter, y = - 105.681 + 1.137 × CRL ± 16.035 for its projection surface area, and y = 478.588 + 4.035 × CRL ± 14.332 for its volume. The shape of the ilium's primary ossification center did not change over the study period, because its transverse -to- vertical diameter ratio was stable at the level of 0.94 ± 0.07. Conclusions The size of the ilium's primary ossification center displays neither sex nor laterality differences. The ilium's primary ossification center grows logarithmically with respect to its vertical and transverse diameters, and linearly with respect to its projection surface area and volume. The shape of the ilium's primary ossification center does not change throughout the examined period. The obtained quantitative data of the ilium's primary ossification center is considered normative for respective prenatal weeks and may contribute to the prenatal ultrasound diagnostics of congenital defects.

Background/purpose: The optimal time for delivery of neonates with a prenatal diagnosis of gastroschisis (GS) is controversial. We compared the outcomes for GS at three different gestational ages (GAs), 33-34 weeks, 35-36 weeks, and ≥ 37 weeks., Methods: We analyze hospital discharge data of neonates with GS using the 2006, 2009 and 2012 Healthcare Cost and Utilization Project Kids' Inpatient Database (HCUPKIDS). Multivariable analysis was used to compare the association between GS outcomes and the three GAs., Results: Significantly higher number of 33-34 week infants had coexisting morbidities like respiratory distress syndrome, bronchopulmonary dysplasia, small bowel atresia, stenosis, or stricture, large bowel atresia and/or stenosis, malrotation, and atrial septal defect. In multivariable logistic regression, 33-34 week infants had higher NEC (p value = 0.002, 95% CI1.64-10.32), small bowel resection (0.024, 1.12-5.25) and pRBCs transfusion (0.024, 1.05-2.11). No differences were found between 35-36 weeks and ≥37 weeks gest infants for NEC, malabsorption, small bowel resection, TPN cholestasis, sepsis, CLABSI, number of pRBCs transfusion, length of stay and total charges., Conclusion: We did not show benefit for delivering early and in the absence of data, delivery at ≥37 weeks was noninferior to 35-36 weeks. We suggest that waiting for spontaneous onset of labor may be a better approach to balance the effects of prematurity and possible ongoing in utero bowel damage/stillbirth., Levels of Evidence: Level 3 (Retrospective comparative study)., (Copyright © 2017 Elsevier Inc. All rights reserved.)

Background: Screening for fetal aneuploidy has evolved over the past 2 decades. Whether these advances impact gestational age at abortion has received little study., Objective: We sought to describe trends in the gestational age at the time of abortion by fetal diagnosis over an 11-year study period. We hypothesized that gestational age at time of abortion would decrease for fetal aneuploidy but remain unchanged for structural abnormalities., Study Design: We conducted a retrospective case series of all women undergoing surgical abortion for fetal aneuploidy or structural abnormalities up to 24 weeks' gestation from 2004 through 2014 in a hospital operating room setting at a single, urban medical center. We excluded labor induction abortions (<1% of abortions at our medical center) and suction aspirations performed in the office practice. We performed suction aspiration up to 14 weeks and dilation and evacuation after that gestational age. We describe the median gestational age at abortion by fetal indication and year., Results: For women undergoing abortion for fetal aneuploidy (n = 392), the median gestational age at time of abortion decreased from 19.0 weeks (interquartile range 18.0-21.0) in 2004 to 14.0 weeks (interquartile range 13.0-17.0) in 2014 (Kruskal-Wallis P < .0001). For women undergoing abortion for fetal structural abnormalities (n = 586), the median gestational age was ≥20 weeks for each year during the study interval (P = .1). As gestational age decreased in the fetal aneuploidy group, fewer women underwent dilation and evacuation and more became eligible for suction aspiration (<14 weeks). In 2004, >90% of women underwent dilation and evacuation for either indication. By 2014, 31% of women with fetal aneuploidy were eligible for suction aspiration compared to 11% of those with structural anomalies., Conclusion: Gestational age at the time of abortion for fetal aneuploidy decreased substantially from 2004 through 2014; earlier abortion is safer for women. In contrast, women seeking abortion for fetal structural abnormalities did not experience a change in timing. Legislation restricting gestational age at the time of abortion could disproportionately affect women with fetal structural abnormalities., (Copyright © 2016 Elsevier Inc. All rights reserved.)

Objective: To evaluate if the delivery mode of infants with prenatally diagnosed congenital diaphragmatic hernia (CDH) affects the outcome., Study Design: Data from the CDH Study Group database of infants with prenatal diagnosis between 2001-2015 were divided into four delivery mode groups: vaginal spontaneous, vaginal induced, elective caesarean section, and emergent caesarean section. Outcomes were analyzed in relation to the time of day of delivery and the gestational age at birth., Results: A total of 3906 cases of prenatally diagnosed CDH were assessed, with an overall survival of 64%. There were no differences in patient characteristics, requirement for extracorporeal membrane oxygenation, length of hospital stay or intubation, requirement for O 2 at 30 days or overall survival. The time of day at birth did not affect the outcome. There was no difference in outcome between the different delivery modes at similar gestational age (GA) at birth, with worse outcomes at lower GA., Conclusions: Neither the mode nor time of delivery seems to affect the overall outcome for patients with prenatally diagnosed CDH. Outcome is strongly associated with the GA at birth.

Objectives: No previous studies have reported the frequencies of individual chromosomal anomalies in normal-appearing fetuses stratified by maternal age (MA) and gestational age (GA). We therefore sought to (1) characterize the frequency of all fetal karyotype anomalies in sonographically normal appearing fetuses without pretest risk factors, and (2) assess MA and GA impact on the proportion of anomalies targeted by screening and consequent impact on residual risk following a negative result., Methods: Fetal karyotypes from samples without prior risk assessment or ultrasound anomalies were analyzed. We calculated, per single-year MA and in two GA intervals, the predicted frequency of each cytogenetic defect., Results: A total of 129 263 karyotypes were analyzed. The risk for significant, cytogenetically visible chromosomal anomalies, at 15 to 20 weeks GA, varies between 1/301 at MA of 18 years, and 1/9 at MA of 48 years. The proportion of clinically significant anomalies not addressed by current screening methods is 47% at MA of 18 years and 5% at MA of 48 years., Conclusions: By determining frequencies for individual karyotype anomalies stratified by MA and GA, in the setting of normal-appearing fetuses, a more personalized risk assessment, including the residual risk after a normal fetal aneuploidy screening result, can be provided. © 2016 John Wiley & Sons, Ltd., (© 2016 John Wiley & Sons, Ltd.)

Objective: Investigating the proportions of anamnestic and biochemical variables of the previous and current pregnancies for the prediction of small for gestational age (SGA) neonates in the current pregnancy., Methods: In this observational retrospective study, 45 029 pregnancies were examined, including 3862 patients with more than one pregnancy. Odds ratios for SGA using anamnestic parameters and pregnancy-associated plasma protein A (PAPP-A) values from all pregnancies were estimated by using a logistic regression model., Results: There were 2552 (5.7%) SGA neonates. Two threshold PAPP-A values were identified at 0.15 MoM and 0.33 MoM with probabilities for SGA of 23% and 17%, respectively. A previous SGA < 10th centile and a current PAPP-A MoM value < 5th centile result in odds ratios of 4.8 (95% CI: 3.5-6.5) and 3.0 (95% CI: 1.8-5.0), respectively. The parameters' combined odds ratio is 14.1 (95% CI: 3.9-50.3) with a number needed to screen of ten for one SGA neonate at a detection rate of 37%., Conclusion: Information on previous pregnancies affected by SGA and a current pregnancy's low PAPP-A value are reliable predictors for a SGA delivery. First-trimester biochemical analysis should be maintained to detect women at risk for delivering a SGA neonate.

Background: Few data exist describing laboratory related failure rates in prenatal diagnosis. The aim of this study is to assess the laboratory associated failure rate for karyotype, QF-PCR and CGH-array following amniocentesis in relation to gestation., Methods: Retrospective database study of amniocenteses performed 2004-2014 comparing laboratory failure rate for karyotype, QF-PCR and CGH-array between 16 + 0 and 40 + 0 weeks' gestation., Results: A total of 10 484 amniotic fluid test results were collected in three databases. Karyotype failed in 41/1797 (2.3%) tests; failure rate was significantly greater with advancing gestation reaching 43% at 36-40 weeks. QF-PCR failed in 132/5715 tests (2.3%) and was significantly greater with advancing gestation reaching 7% at 36-40 weeks. For CGH-array, 10/298 tests (3.4%) failed analysis. In one case, no result was obtainable by any technique., Conclusions: These data provide gestation specific laboratory failure rates for amniocentesis enabling informed decisions about the timing and laboratory technique most applicable to the clinical situation. Before 20 weeks, karyotype is least likely to fail of the three techniques. However, in the late third trimester, QF-PCR and, in particular, karyotyping are more likely to fail than CGH-array. Although there is some overlap between the three different tests, they may be preferentially offered in different clinical scenarios. © 2016 John Wiley & Sons, Ltd., (© 2016 John Wiley & Sons, Ltd.)

Introduction: Induced birth of fetuses with gastroschisis from 34weeks gestational age (GA) has been proposed to reduce bowel damage. We aimed to determine the effect of birth timing on time to full enteral feeds (ENT), length of hospital stay (LOS), and sepsis., Methods: A retrospective analysis (2000-2014) of gastroschisis born at ≥34weeks GA was performed. Associations between birth timing and outcomes were analyzed by Mann-Whitney test, Cox regression, and Fisher's exact test., Results: 217 patients were analyzed. Although there was no difference in ENT between those born at 34-36+6weeks GA (median 28 range [6-639] days) compared with ≥37weeks GA (27 [8-349] days) when analyzed by Mann-Whitney test (p=0.5), Cox regression analysis revealed that lower birth GA significantly prolonged ENT (p=0.001). LOS was significantly longer in those born at 34-36+6weeks GA (42 [8-346] days) compared with ≥37weeks GA 34 [11-349] days by both Mann-Whitney (p=0.02) and Cox regression analysis (p<0.0005). Incidence of sepsis was higher in infants born at 34-36+6weeks (32%) vs. infants born at ≥37weeks (17%; p=0.02)., Conclusions: Early birth of fetuses with gastroschisis was associated with delay in reaching full enteral feeds, prolonged hospitalization, and a higher incidence of sepsis., (Copyright © 2016 The Authors. Published by Elsevier Inc. All rights reserved.)

Objective: To evaluate the gestational age (GA) at which perinatal mortality risk is minimized for fetuses with Down syndrome (DS)., Methods: Retrospective cohort of singleton pregnancies delivered between 24 and 41 weeks, using 2005-2006 United States linked birth and death certificate data. Among fetal DS cases, prospective risk of intrauterine fetal demise (IUFD) and risk of infant death were calculated for each week, and composite risk of fetal/infant mortality with expectant management was compared to delivery., Results: Of 3,113,098 pregnancies, 1766 had fetal DS (0.06%). IUFD occurred in 7.4% with DS, and infant death in 6.5%. Prospective risk of IUFD increased from 37 weeks onward to reach 50.7 per 1000 pregnancies (95% CI 33.2-68.3) at 42 weeks. Comparing mortality with expectant management to delivery, expectant management carried increasing risk from 38 (RR 1.18; 95% CI 1.05-1.33) to 41 weeks (RR 1.84; 95% CI 1.66-2.05). Further, number needed to deliver to avoid one excess death decreased from 38 (109.17; 95% CI 64.52-344.83) to 41 weeks (24.08; 95% CI 20.59-29.04)., Conclusions: Although further research is needed to clarify risk factors for fetal and neonatal death in cases of DS, risk of perinatal mortality appears to be minimized with delivery at 38 weeks., (© 2016 John Wiley & Sons, Ltd.)

Aim: The prognosis for non-immune hydrops fetalis (NIHF) is still poor despite progress in perinatal care. We have examined perinatal and 1-year outcomes for NIHF in relation to gestational age at diagnosis and underlying etiology in order to identify predictors of mortality., Methods: A retrospective review was conducted of 92 pregnancies with NIHF managed in hospital between 2000 and 2012. The gestational age at diagnosis, etiology, perinatal outcome, and 1-year outcome were recorded, and their associations assessed., Results: A total of 41 of 92 cases (45%) resulted in fetal death, 33 patients (36%) survived to 1 year, but only 15 of the 33 survivors were developmentally intact. Aneuploidy was the most common cause of NIHF (27%; 25/92). Of the 34 patients who were diagnosed before 22 weeks, 29 fetuses (85%) died, and four (12%) survived to 1 year without developmental delay. Meanwhile, of the 26 patients diagnosed after 30 weeks, 18 (69%) survived to 1 year. Of those 18, seven (27%) were developmentally intact. Approximately half of the pregnancies with cardiac anomalies (8/13) resulted in intrauterine fetal death (IUFD) or early neonatal death. Aneuploidy was associated with a high frequency of IUFD, and of the remaining five surviving newborns, three had developmental delay., Conclusion: The prognosis for NIHF differs according to underlying etiology and gestational age at diagnosis. NIHF diagnosed early in gestation is associated with poor outcome. Knowledge of the primary etiology is important for counseling and therapy., (© 2015 Japan Society of Obstetrics and Gynecology.)

The aim of the study was to investigate the etiology and pregnancy outcomes in mothers with polyhydramnios through prenatal diagnosis and pregnancy outcome analysis of pregnant women with polyhydramnios. One hundred and thirty women were enrolled. Fifty pregnant women with polyhydramnios were categorized as the case group, and 80 pregnant women with normal amniotic fluid were categorized as the control group. The causes of polyhydramnios and the pregnancy outcomes were analyzed. Two cases had chromosomal abnormalities, seven had severe α-thalassemia, 15 had fetal anomalies, four had maternal-fetal diseases and 22 had unexplained idiopathic polyhydramnios. Significantly, higher occurrences of cesarean section, preterm birth, fetal anomaly, fetal distress, fetal macrosomia and female fetuses occurred in patients with polyhydramnios than in patients without polyhydramnios. Polyhydramnios is associated with a higher occurrence of adverse perinatal outcomes. Intensive monitoring of the maternal-fetal condition and prenatal diagnosis is important in patients with polyhydramnios.

Given the difficulty in establishing the exact time of HCMV transmission from mother to fetus, HCMV intrauterine infection was investigated in 46 infected fetuses/newborns by correlating maternal and fetal parameters with clinical outcome according to the time interval between the onset of maternal infection and prenatal diagnosis. In detail, 17/28 (60.7%) asymptomatic and 18/18 (100%) symptomatic fetuses/newborns were infected as a consequence of a primary maternal HCMV infection acquired ≤8 weeks of gestational age, while 11/28 (39.3%) asymptomatic and 0/18 (0%) symptomatic fetuses/newborns were congenitally infected when maternal infection was acquired >8 weeks' gestation. Symptomatic fetal infections appeared to be associated with a maternal primary infection occurring at ≤ 8 weeks' gestation. Cordocentesis performed at 20 weeks' gestation should be restricted to high risk infected fetuses., (© 2015 Wiley Periodicals, Inc.)

Objective: We aimed to assess in vivo changes in lung and liver volumes in fetuses with isolated congenital diaphragmatic hernia, either expectantly managed or treated in utero., Method: This is a secondary analysis of prospectively collected data at two fetal therapy centers. We used archived magnetic resonance images of fetuses taken ≥7 days apart, creating paired observations in 20 expectantly managed cases, 41 with a second magnetic resonance prior to balloon reversal and 64 after balloon removal. We measured observed to expected total fetal lung volume (O/E TFLV) and liver-to-thoracic volume ratio. We calculated changes in volume as compared with the initial measurement and its rate as a function of gestational age (GA) at occlusion., Results: The liver-to-thoracic volume ratio did not change in either group. In expectantly managed fetuses, O/E TFLV did not increase with gestation. In fetuses undergoing tracheal occlusion, the measured increase in volume was 2.6 times larger with balloon in place as compared with that after its removal. GA at tracheal occlusion was an independent predictor of the O/E TFLV. The net rate seems to initially increase and plateau at a maximum of 1.5% per week by 35 to 45 days after occlusion., Conclusions: Tracheal occlusion induces a net increase in volume, its magnitude essentially dependent on the GA at occlusion., (© 2015 John Wiley & Sons, Ltd.)

Objectives: Abdominal cysts are seldom detected at the first trimester scan. The aim of this study is to ascertain their outcome, which is currently not established., Methods: The French College of Fetal Ultrasound conducted a prospective observational study of 24months, collecting all cases of abdominal cysts discovered during the first trimester ultrasound. Cases of megacystis were excluded from the study. Ultrasound images, prenatal diagnosis expert reports and pregnancy outcomes were collected by sonographers after patient consent., Results: Ten cases of abdominal cysts were collected. The cysts had a mean diameter of 15mm. They were anechoic in 5 cases, hyperechoic in 2 cases and mixed in 3 cases. In 6 of 10 cases, complete resolution was observed at 18WG with a good post-natal outcome; the five cases with anechoic images were associated with normal pediatric examination at birth and in the case of the resolved hyperechoic image, an isolated imperforate anus was observed. In the four cases of hyperechoic or mixed images that had not resolved, the outcome was poor with four termination of pregnancies, including two cases of cloacal dysgenesis., Conclusions: Abdominal cysts are rare at the first trimester scan. They resolve in two thirds of cases and are then associated with good outcome. When they do not resolve or when they are not strictly anechoic, they require a referral ultrasound examination at 18 and 22WG., (Copyright © 2015 Elsevier Masson SAS. All rights reserved.)

Normal growth of the lateral ventricles (LVs) was characterized three-dimensionally using magnetic resonance imaging (MRI) data from 16 human fetuses at 16-25 weeks of gestation. The LV was differentiated into four primary regions, the anterior horn, central parts, posterior horn, and inferior horn, at 16 weeks of gestation. The LV changed shape mainly by elongation and narrowing, which corresponded to the external and internal growth of the surrounding cerebrum. Six length parameters measured in the LV correlated with biparietal diameter by simple regression analysis (R(2) range, 0.56-0.93), which may be valuable for establishing a standardized prenatal protocol to assess fetal well-being and development across intrauterine periods. No correlation was found between biparietal diameter and LV volume (R(2) = 0.13)., (© 2014 Japanese Teratology Society.)

A prospective study was conducted to determine the cut-off values of nuchal skin-fold thickness (NFT) with false-positive rates for each gestational week (GW) for chromosomal abnormalities during the 2nd trimester of pregnancy. A total of 2,313 women with normal singleton pregnancies were included in the study. Cases of multiple gestations, aneuploidy and major congenital malformations were excluded. The distribution of NFT between the 15th and 24th GW and the cut-off values of NFT with false-positive rates for chromosomal abnormalities were determined. A significant positive correlation was noted between NFT and GW. Statistically significant differences were observed in NFT for the each GW. The 95th percentile values of NFT between 15 and 24 weeks' gestation were 4.7, 4.77, 5.0, 5.5, 5.76, 5.9, 6.0, 6.1, 6.5 and 6.8 mm, respectively. In all fetuses, if the cut-off value of NFT was considered as 6 mm, the false-positive rate ranged from 1.8% to 37% in 15-24 weeks' gestation. Evaluation of NFT according to cut-off values determined by population-based percentiles for each GW might be a more appropriate screening method for chromosomal abnormalities than accepting NFT ≥ 6 mm for all fetuses as abnormal, regardless of gestational age.

Purpose: The proportions of select stem cells in term amniotic fluid have been shown to correlate with the type and size of experimental neural tube defects (NTDs). We sought to determine the impact of gestational age upon this form of targeted amniotic cell profiling., Methods: Sprague-Dawley fetuses with retinoic acid-induced NTDs (n = 110) underwent amniotic fluid procurement at four time points in gestation. Samples were analyzed by flow cytometry for the presence of cells concomitantly expressing Nestin and Sox-2 (neural stem cells, aNSCs) and cells concomitantly expressing CD29 and CD44 (mesenchymal stem cells, aMSCs). Statistical analysis was by nonparametric Kruskal-Wallis ANOVA (p < 0.05)., Results: There was a statistically significant impact of gestational age on the proportions of both aMSCs (p = 0.01) and aNSCs (p < 0.01) in fetuses with isolated spina bifida. No such impact was noted in normal fetuses (p > 0.10 for both cells), in isolated exencephaly (p > 0.10 for both cells), or in combination defects (p > 0.10 for both cells). Gestational age had no effect on aNSC/aMSC ratios., Conclusions: Targeted quantitative amniotic cell profiling varies with gestational age in experimental isolated spina bifida. This finding should be considered prior to the eventual translation of this diagnostic adjunct into the prenatal evaluation of these anomalies. © 2014 S. Karger AG, Basel.

Objectives: The purpose of this study was to establish reference ranges for 2-dimensional sonographic measurements of fetal lungs from longitudinal data., Methods: A total of 214 fetal lung measurements were longitudinally evaluated in 62 healthy fetuses between 20 and 36 weeks' menstrual age. Both right and left lung areas were measured in the heart 4-chamber view using lung area tracing and axis diameter methods. Multilevel modeling was used to evaluate the expected values and variability with respect to menstrual age and to generate reference ranges for the lung area, lung-to-head ratio, quantitative lung index, and observed-to-expected lung-to-head ratio for both lungs., Results: The expected values varied with menstrual age for all parameters. Variance was menstrual age dependent for all parameters except the longest diameter area measurements and their lung-to-head ratios., Conclusions: Models are presented for expected 2-dimensional sonographic lung size parameters and their variance as a function of menstrual age. These data have been used to generate age-specific reference ranges for both measurements and indices., (© 2014 by the American Institute of Ultrasound in Medicine.)

Objectives: To assess the presence and degree of indirect signs of agenesis of the corpus callosum (ACC) according to gestational age and determine the percentage of cases in which each sign is present by 24 gestational weeks., Methods: We analyzed retrospectively 54 cases of ACC which underwent three-dimensional neurosonography at our unit between January 2005 and December 2012. A single examination was available in 48 cases and six cases were followed up longitudinally, giving a total of 69 examinations. The following variables were assessed: indication for referral, karyotype, width of the atrium and presence/absence of colpocephaly, the cavum septi pellucidi, dorsal cyst and additional central nervous system (CNS) and non-CNS anomalies., Results: Overall, there were 31 cases of complete ACC (cACC, 42 examinations) and 23 cases of partial ACC (pACC, 27 examinations). The mean gestational age was lower in the cases referred because of anomalies other than ACC than it was in those referred because of ventriculomegaly and/or suspicion of ACC (P < 0.05). Atrial width showed a positive linear correlation with advancing gestational age (P < 0.0001); it was < 10.0 mm in 25/34 (73.5%) examinations < 24 gestational weeks and in 9/35 (25.7%) ≥ 24 weeks (P < 0.001). Colpocephaly was present in 20.6% (7/34) of examinations < 24 weeks and in 68.6% (24/35) of those after 23 weeks (P < 0.05). The cavum septi pellucidi was present and visible at least in part in 17 (63%) of the 27 pACC examinations. In nine of the 27 (33.3%) pACC examinations, there was neither ventriculomegaly nor absence of the cavum septi pellucidi. Associated anomalies were present in 25/54 (46.3%) cases, and in 11 these included or consisted of CNS abnormalities. Karyotype was abnormal in seven of the 40 (17.5%) cases in which it was available., Conclusions: In a significant proportion of cases, most of the indirect signs of ACC are either absent or barely visible at the time of the midtrimester screening ultrasound examination. Therefore, ACC may escape diagnosis at midtrimester screening ultrasound. In particular, a third of examinations in fetuses with pACC may not show any abnormality in the transventricular screening view < 24 weeks. The medicolegal implications of such findings are important and should be considered., (Copyright © 2013 ISUOG. Published by John Wiley & Sons Ltd.)

Purpose: The role of thyroid function in biochemical markers of first trimester screening has not been assessed. The aim of the present study was to investigate if there were any relation between maternal thyroid hormones and free-beta subunit of human chorionic gonadotropin (fβ-hCG) and pregnancy-associated plasma protein A (PAPP-A) levels as the biochemical markers of the combined first trimester aneuploidy screening., Methods: 375 pregnant women between 11 and 14 weeks of gestation who were offered routine first trimester prenatal aneuploidy screening and whose thyroid hormone levels (Thyroid stimulating hormone (TSH), free and total thyroxine, free and total triiodothyronine, anti thyroid peroxidase antibody) were measured were assessed. Correlation of free-β-hCG and PAPP-A with maternal thyroid hormones was analyzed., Results: There was no statistically significant correlation between maternal TSH, free and total thyroxine, free and total triiodothyronine, anti-thyroid peroxidase antibodies and free-β-hCG and PAPP-A as biochemical markers of first trimester aneuploidy screening., Conclusion: Maternal thyroid function does not seem to affect secretion of fβ-hCG and PAPP-A.

Objective: To determine which combination of cardiac parameters provides the best prediction of postnatal coarctation of the aorta (CoAo) in fetuses with cardiac asymmetry., Methods: We selected all cases of disproportion of the ventricles and great vessels prenatally diagnosed between 2003 and 2010 at the Hospital Universitario '12 de Octubre', Madrid, Spain. Only appropriate-for-gestational age liveborn fetuses with isolated cardiac asymmetry and with complete postnatal follow-up were included in the study. Eighty-five cases were retrieved and analyzed. Logistic regression analysis was used to select the best predictors of CoAo. Optimal cut-offs for these parameters were identified and the corresponding likelihood ratios used to calculate the post-test probability of CoAo in each fetus., Results: CoAo was confirmed in 41/85 neonates (48%). The parameters selected by logistic regression and their cut-off values were: gestational age at diagnosis ≤ 28 weeks, Z-score of diameter of the ascending aorta ≤ -1.5, pulmonary valve/aortic valve diameters ratio ≥ 1.6 and Z-score of the aortic isthmus diameter in the three vessels and trachea view ≤ -2. We divided the study group into two subgroups: Group A, in whom the diagnosis was made at ≤ 28 weeks' gestation (80% CoAo (32/40)); and Group B, in whom the diagnosis was made at > 28 weeks (20% CoAo (9/45)). The mean post-test probabilities of CoAo were higher in fetuses with CoAo than in normal fetuses in both subgroups (Group A, 82 vs 55%; P = 0.002 and Group B, 51 vs 20%; P < 0.001). In addition, a rate of growth of the aortic valve of ≤ 0.24 mm/week provided 80% sensitivity and 100% specificity for predicting CoAo in Group A., Conclusions: We have derived a multiparametric scoring system, combining size-based cardiac parameters and gestational age at diagnosis, which may improve the accuracy of fetal echocardiography for the stratification of the risk of CoAo. The objectivity and simplicity of its components may allow its implementation in fetal cardiology units., (Copyright © 2012 ISUOG. Published by John Wiley & Sons, Ltd.)

Objective: The aim of this study was to evaluate the effectiveness of prenatal screening for trisomy 18 with the use of the frontomaxillary facial angle (FMF angle) measurement., Material and Methods: The study involved 1751 singleton pregnancies at 11-13 + 6 weeks, examined between 2007 and 2011. Serum PAPP-A and free beta-hCG levels were assessed, and crown-rump length, nuchal translucency, and FMF angle were measured in all patients. 1350 fetuses with known follow-up were included in the final analysis., Results: Highly significant (P < 0.01) negative correlation between the CRL and the FMF angle was found. There were 30 fetuses with trisomy 18. FMF angle was highly significantly larger (P < 0.0001) in fetuses with trisomy 18 as compared to chromosomally normal fetuses. Two models of first trimester screening were compared: Model 1 based on maternal age, NT, and first trimester biochemistry test (DR 80-85% and FPR 0.3-0.6%), and Model 2 = Model 1 + FMF angle measurement (DR 87.3-93.3% and FPR 0.8-1.3%)., Conclusions: The use of FMF angle measurement increases the effectiveness of the screening for trisomy 18. Introduction of the FMF angle as an independent marker for fetal trisomy 18 risk requires further prospective research in large populations.

Objective: To determine the prevalence of pregnancies with neural tube defects (NTDs) in China between 2006 and 2008 and to find a better representative monitoring gestational age for total prevalence of NTDs by comparing the prevalence at or greater than 20, 22 or 28 weeks of gestation (abbreviated as P20, P22 and P28, respectively)., Methods: The data were retrieved from the National Birth Defects Monitoring Network in China (the Network). All births were monitored on the prevalence of NTDs during the entire gestation period of 2006-2008., Results: The P28 only represents 34.6% of anencephaly, 70.8% of spina bifida, 53.3% of encephalocele and 53% of the combination of the three types of NTDs during the entire pregnancy. The P20 represents 75.8%, 94.7%, 86% and 85.4% in the above-mentioned categories, respectively. Of the NTDs diagnosed prenatally before 28 weeks of gestation, 45.3% were terminated electively., Conclusions: The P28 underrepresented 65.4% of anencephaly, 29.2% of spina bifida, 46.7% of encephalocele and 47% of the combined NTDs. The prevalence of NTDs that occurred at or greater than 20 weeks of gestation was more accurate than that at or greater than 28 weeks of gestation.

Objectives: The purpose of this study is to describe the diagnosis, the care and the prognosis of the fetuses with an antenataly diagnosed megacystis., Patients and Methods: Six year retrospective study about 46 cases of megacystis (26 diagnosed during 1st trimester; 14 during 2nd trimester; 9 during 3rd trimester) referred in the prenatal fetal medicine unit of the Femme-Mère-Enfant hospital in Lyon (France)., Results: The main aetiology is urethral occlusion, particularly for megacystis discovered during the 1st and the 2nd trimesters. Twenty-two terminations of pregnancy were performed (47.8%) and 6 pregnancies arrested spontaneously (13%). Eighteen children were born alive, but 2 died in neonatal period. Finally, 16 children survived (34.8%). Chromosomal abnormalities are frequent (22%)., Discussion and Conclusion: Antenatal discovery of a megacystis is a complex situation, and often of poor fetal prognosis. It requires a multidisciplinary approach to allow the concerned couple to be determined on the best care of this pregnancy., (Copyright © 2010 Elsevier Masson SAS. All rights reserved.)

First trimester screening for Down syndrome is yet to become the first intention strategy in France. This screening program at 11-14 weeks of gestation using maternal age, fetal nuchal translucency, maternal serum free beta-human chorionic gonadotropin and pregnancy-associated plasma protein-A has already been validated for a long time by many international studies. It seems to improve detection rate and decrease false positive rates. We report here five years prospective experience., (Copyright 2010 Elsevier Masson SAS. All rights reserved.)

Background: Current risk calculations for trisomy 21, which are based on multiples of median (MoM), do not take into account possible differences between euploid and trisomy 21 pregnancies that may develop with gestational age. In order to optimize the predictive value of screening tests, we calculated the ratio between maternal serum concentration of alpha-fetoprotein (AFP) and that of human chorionic gonadotropin (hCG) in euploid and in trisomy 21 pregnancies., Methods: The medians of the concentration ratios, [AFP]/[hCG] at 16-21 weeks of gestation, were plotted as a function of gestational age for 307 cases of trisomy 21 and were compared with the medians of 30 549 normal karyotype cases., Results: [AFP]/[hCG] ratio medians were independent of body weight and maternal age. There was a significant difference in the [AFP]/[hCG] ratio when comparing trisomy 21 and euploid pregnancies at each week. This difference became greater with advancing gestational age (P < 0.01)., Conclusion: There is a significant difference in ratios of [AFP]/[hCG] between euploid and trisomy 21 pregnancies, which may be used to improve detection rates of Down syndrome screening.

Although no precise figures are available, many congenital brain lesions arise from intrauterine disruption, frequently due to obstetric complications. The most common entities include intracranial hemorrhage, ischemic lesions, thrombosis of venous vessels and infections. Accurate prenatal diagnosis is possible in many of these cases. However, the findings may be subtle, particularly in the early stage of the disruptive process. Identification of these conditions requires therefore specific expertise, the combination of fetal neurosonography and magnetic resonance, and frequently there is a need for serial examinations. Targeted diagnostic imaging should be offered to obstetric patients with conditions predisposing to prenatal cerebral insults.

Background/aims: To assess the indications for late termination (> or =23 weeks' gestation) of pregnancy (LTOP), and to evaluate the rate of cases potentially diagnosable earlier., Methods: Cases of singleton pregnancy ending in LTOP due to fetal abnormalities in our institute between 1/1998 and 12/2005 were retrospectively reviewed. The women were divided into two groups according to the sequence of events that led to LTOP: Group 1 - the first test indicating an abnormal finding was performed < or =23 weeks' gestation, but LTOP was performed >23 weeks; Group 2 - the first test indicating an abnormal finding was performed > or =23 weeks of gestation, or the fetal prognosis was not certain at the time of diagnosis and there was a medical recommendation to continue investigation., Results: There were 144 cases of LTOP (average gestational age 26.2 +/- 3.4 weeks). More than 70% of the cases were aborted because of chromosomal/genetic indication in Group 1; many of them could have been detected earlier in pregnancy, while about 80% of the cases were aborted because of structural abnormalities in Group 2 (p < 0.001). The structural anomaly could have been diagnosed earlier in 56 cases ( approximately 74%) if the pregnant woman had undergone an earlier anomaly scan. In another 13 cases (9%), fetal prognosis was not certain and continuing prenatal investigation was required., Conclusions: The most common indications for LTOP were structural abnormalities (91 cases, 70%) which included the central nervous system (26 cases, 29%), cardiac abnormalities (24 cases, 26%), and multiple malformations (18 cases, 20%). The diagnosis of fetal anomaly could have been made earlier in more than half of the pregnant women undergoing LTOP., (Copyright (c) 2009 S. Karger AG, Basel.)

Screening for GDM is usually performed around 24-28 weeks of gestational age. We undertook a study to estimate the prevalence of glucose intolerance during different trimesters, as data in this aspect is sparse. A total of 4151 consecutive pregnant women irrespective of gestational weeks attending antenatal health posts across Chennai city underwent a 75 g OGTT recommended by WHO and diagnosed GDM if 2 hr PG value > or =140 mg/dl. Women who had normal OGTT at the first visit were screened with a repeat OGTT at the subsequent visits. Among the screened, 741 women (17.9%) had 2 hr PG> or =140 mg/dl and were identified to have gestational diabetes. Analysis based on gestational weeks revealed that out of the 741 GDM women, 121 (16.3%) were within 16 weeks, 166 (22.4%) were between 17 and 23 weeks and 454 (61.3%) were more than 24 weeks of gestation. Observation in this study was that 38.7% developed gestational diabetes even prior to 24th week of gestation. Out of the total 741 GDM women, 214 (28.9%) were diagnosed on repeat testing at subsequent visits. Glucose intolerance occurs in the early weeks of gestation. Women who had normal glucose tolerance in the first visit require repeat OGTT in the subsequent visits.

Introduction: Early elective delivery of antenatally diagnosed gastroschisis has been proposed as a strategy to minimize postnatal morbidity. This hypothesis was tested by analyzing outcome in relationship to gestational age and birth weight at delivery., Methods: Single-center retrospective review of infants born with gastroschisis over a 13-year period (January 1993-December 2005). Standard outcome measures were compared using nonparametric methods. Data are quoted as median values (range)., Results: The study population consisted of 110 infants with gastroschisis. They were divided according to gestational age (group A, <35 weeks; group B, 35-37 weeks; group C, >37 weeks) and birth weight (group D, <2 kg; group E, 2-2.5 kg; group F, >2.5 kg). Duration in hospital (P < .01) and time to full enteral feeding (P = .05) was increased in group A vs groups B and C. In comparison, duration in hospital (P < .01), days ventilated (P = .03), establishment of full feeds (P = .01), and parenteral nutrition (P = .02) were all prolonged in group D vs groups E and F. Six (5%) infants died (group D, n = 3; group E, n = 3). Necrotizing enterocolitis was found in 7 infants, and confined to groups D and E (chi2 for trend P = .06)., Conclusion: There is no evidence that prematurity confers an advantage in restitution of gastrointestinal function in infants with gastroschisis; indeed, the opposite appears true. Birth weight, rather than gestational age, appears a better predictor of outcome.

Unlabelled: AIM AND TYPE OF STUDY: A retrospective study and analysis of data on gestational week at the time of the birth defect diagnoses of both invasive and non-invasive type as well as on gestational week at the time of pregnancy termination in the Czech Republic over the 1996-2003 period., Methodology: Data on prenatal diagnostics were obtained from particular departments of medical genetics. Data were collected for both birth defects as a total as well as for selected particular types: anencephaly, spina bifida, omfalocele, gastroschisis and Down syndrome. An analysis on gestational weeks at the time of diagnosis and/or pregnancy termination was performed., Results: Mean gestational week at the time of diagnosis was 19.49 for total birth defects and 20.02 for pregnancy termination. Corresponding values (diagnosis x termination) in gestational weeks were as follows: Anencephaly 17.01 and 17.69, spina bifida 19.41 and 19.68, omfalocele 17.64 and 17.99, gastroschisis 17.63 and 1836, Down syndrome 19.81 and 20.43., Conclusions: Results of aggregate data analysis contribute to a better knowledge of different methods of prenatal diagnosis during different gestational periods. All values of mean gestational week at the time of diagnosis/pregnancy termination slightly decreased during the time of the study in all presented types of birth defects.

The goal of first trimester screening for aneuploidy is to provide patients their risk assessment for fetal Down syndrome. Nonetheless, it has been noted that combined screening offers physicians and patients other important pregnancy information. For example, first trimester ultrasound results in accurate pregnancy dating and enables the early diagnosis of multiple gestations during the period when amnionicity and chorionicity is best discerned. It also detects a limited number of fetal anatomical abnormalities, affording patients time to make decisions regarding the management of their pregnancies. A cystic hygroma, one of the most powerful ultrasound markers for fetal aneuploidy, can be detected on first trimester ultrasound. An enlarged nuchal translucency may identify fetuses at risk for other adverse outcomes and for congenital heart defects. In addition, abnormal first trimester serum markers are associated with adverse pregnancy outcomes, and knowledge of these abnormalities may help with patient counseling and management.

Objectives: To evaluate the predictive value of RHD fetal genotype in maternal plasma of Rh D negative mothers after 10 weeks of gestation in a clinical use., Material and Method: Prospective, comparative study between fetal RHD genotyping in maternal plasma, with amplification of exons 4,5,10 of the RHD gene, by real-time multiplex PCR, and Rh D serology at birth, in 218 pregnancy and their 223 babies, between November 2002 and 2004., Results: Combining the amplification of three exons, the concordance rate of fetal Rh D genotyping in maternal plasma and baby phenotyping at delivery was 100%. Four women whose the babies were Rh D negative were positive for RHD exon 10 during pregnancy. This positivity was, in three cases, correlated with the presence of RHDpsi pseudogene and in last case, with a haplotype Cdes (r's). RHD genotyping was performed for five twin pregnancies., Conclusion: Multiplex PCR using maternal plasma provides perfect prenatal prediction of fetal RHD gene. These results confirm that this non invasive procedure is the preferred method for assessing Rh D fetal status in Rh negative mothers. Using this method for two years in routine practice has led us to modify our management scheme for sensitized Rh D-negative pregnant women.

Aim: To assess the feasibility of nuchal translucency [NT] measurement as a screening tool for Down syndrome [DS] and other chromosomal anomalies [ChA] between 11-14 weeks of gestation [w.g.]., Materials and Methods: A longitudinal prospective follow up study was carried out at a tertiary referral center including 408 singleton pregnancies between 11+0 and 14+0 w.g. Three experienced sonographers performed transabdominal and/or transvaginal scans using high-resolution ultrasound equipment. The ultrasound examinations included assessment of fetal number and viability, NT measurement and fetal anatomy survey. Down syndrome [DS] risk was calculated using the specialized computer program provided by the Fetal Medicine Foundation [FMF], UK. In cases of estimated DS risk > or = 1:300 invasive prenatal diagnosis was offered--chorionic villus sampling [CVS] between 11-14 w.g. or amniocentesis [AC] after 15 w. g., as well as follow-up scans including fetal echocardiography. The samples were tested by cytogenetic analysis, DNA analysis and/or FISH. When chromosomal fetal abnormality was detected termination of pregnancy was an option. Pregnancy outcome was ascertained from hospital records, referring physicians or the patients themselves., Results: 108 (26%) out of the 408 women were ?35 years and 300 (74%)--below that age. A total number of 9 fetal chromosomal anomalies [ChA] were found including 6 cases with DS, 2--with trisomy 18 [T18] and 1--with Turner syndrome. The overall sensitivity for DS was 66.7% for a false-positive rate [FPR] of 13.4%. The figures for all ChA were 77.7% and 12.8%, respectively. All three cases of ChA other than DS were in the screen-positive group. The overall sensitivity and FPR for ChA for patients > or = 35 years was 80% and 35%, while for patients < 35 years it was 75% and 5.1 %, respectively. Diagnostic invasive procedures were performed in 50 out of 58 screen-positive cases, including 7 of the cases with ChA. In all 7 cases with prenatal diagnosis of fetal ChA the parents chose to terminate the pregnancy., Conclusions: First trimester DS screening by NT measurement has high sensitivity and specificity. Screening for other chromosomal abnormalities missed by second trimester biochemical serum tests is also possible. Invasive prenatal diagnosis is performed at an early gestational age when termination of affected pregnancies by D&C is still an option. Other important advantages are the possibility of screening for ChA in multiple gestations, as well as early diagnosis of major fetal anomalies.

Objective: This study was undertaken to design a predictive model for assessing the risk of developing respiratory distress syndrome (RDS) by using gestational age (GA) and results from a quantitative fluorescence polarization-based fetal lung maturity assay (TDx FLM II)., Study Design: The study populations from the 3 largest published studies analyzing the association between TDx-FLM II and the development of RDS were combined for this analysis. A total of 509 patients were included in this study; 57 gave birth to infants who had RDS develop, and 452 gave birth to infants who were unaffected. Logistic regression analysis was used to model the odds of RDS as a function of GA, TDx FLM II ratio, and study site., Results: The absolute and relative risks of an infant having RDS develop as a function of GA and TDx FLM II were calculated. The odds of RDS decrease 31% for each increasing week of GA and decrease 67% for each 10 mg/g increase in the TDx FLM II ratio. GA-specific TDx FLM II cutoffs are provided for sensitivities between 84% and 100%. The bias-adjusted area under the receiver-operating characteristic curve for the classification of RDS, based on GA and TDx FLM II ratio, was 0.957 with the use of the logistic model., Conclusion: The incorporation of GA into the evaluation of fetal lung monitoring allows for individualized, GA-specific risk assessment and provides GA-specific cutoffs with increased specificity.

Objective: To assess outcomes of patients with premature rupture of membranes (PROM) at 32 or 33 weeks gestation., Methods: This historical cohort study included all immune competent patients managed at our institution from October 1, 1999 to March 31, 2003 with singleton gestations and PROM at 32 or 33 weeks, and without clinical chorioamnionitis at presentation or antenatal diagnosis of a fetal anomaly. If amniotic fluid studies revealed pulmonary maturity, patients were intentionally delivered. Otherwise, they were expectantly managed until intentional delivery at 34 weeks, or labor, chorioamnionitis, or non -reassuring testing led to delivery sooner., Results: For the groups with mature (n = 29) and immature or unobtainable (n = 60) fluid, respectively, rates of neonatal ICU admission (83% vs. 77%; p = 0.51), respiratory distress (41% vs. 45%; p = 0.75), mechanical ventilation (10% vs. 17%; p = 0.53), and proven neonatal infection (4% vs. 2%; p = 0.60) were similar, as were rates of other neonatal and maternal complications. The mature group had shorter mean maternal hospital stays (3.6 +/- 0.6 vs. 6.4 +/- 2.9 d; p < 0.001) and latency periods (30.2 +/- 19.3 vs. 83.8 +/- 68.7 h; p < 0.001)., Conclusion: Compared to those managed expectantly due to immature or unavailable fetal lung studies, intentional delivery of patients with PROM at 32 or 33 weeks with mature fetal lung studies did not increase neonatal morbidity in our small cohort.