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Objectives: The present study aimed: 1) to simultaneously investigate the relationship between blood flow volumes of the two fetal liver afferent venous systems of normally appropriate for gestational age newborns. 2) to establish the normal reference range centiles values that will serve as a basis for future investigations., Methods: A cross-sectional, prospective study of singleton low obstetric risk pregnancies. Doppler examination included the measurement of the umbilical and the main portal vein vessels' diameters and time-averaged maximum velocity. The absolute and per kilogram of estimated fetal weight flow volumes and the ratio between the placental and portal blood volume flow were calculated from these data., Results: Three hundred and sixty-three pregnant women were included in the study. The umbilical and portal flow volumes' capacity to provide blood flow per kilogram of fetal weight, in the period of maximum fetal growth, was diverse. The placental flow decreased continuously from a mean of 121.2 mL/min/kg at the 20th week of gestation to 64.1 mL/min/kg at the 38th week of gestation. Meanwhile, the portal flow volume per kilogram of fetal weight increased from 9.6 mL/min/kg at 32 weeks of gestation to 10.3 at the 38th week of gestation. This resulted in a decrease in the umbilical to portal flow volume ratio from 13.3 to 9.6 during this period., Conclusion: Our results indicate that in the period of maximum fetal growth, the placental/portal ratio diminishes emphasizing the portal flow's predominance with low oxygen and nutrient supply to the liver., (© 2023 American Institute of Ultrasound in Medicine.)

Objectives: Abnormal fetal tongue size is a phenotypic feature of various syndromes including Beckwith-Wiedemann, Pierre-Robin, oromandibular limb hypoplasia, chromosomal aberrations, etc. Current data regarding normal fetal tongue size are limited. Hence, micro/macroglossia are subjectively determined. The aim of the study was to construct a contemporary fetal tongue nomogram and to assess its clinical contribution., Methods: A prospective cross-sectional study was performed in well dated, low risk, singleton pregnancies. Fetal tongues were measured by 5 trained sonographers. Highest quality images were selected. Intra- and interobserver variability was assessed. Tongue length, width, area, and circumference 1st to 99th centiles were calculated for each gestational week. Based on the normal tongue size charts, we created a Tongue Centile Calculator., Results: Over 18 months, 664 tongue measurements were performed. A cubic polynomial regression model best described the correlation between tongue size and gestational age. The correlation coefficient (r 2 ) was 0.934, 0.932, 0.925, and 0.953 for tongue length, width, area, and circumference, respectively (P < .001). Intra- and interobserver variability had high interclass correlation coefficients (>0.9). Using the new charts, we were able to identify 2 cases of macroglossia, subsequently diagnosed with Beckwith-Wiedemann, and 4 cases of microglossia, 3 associated with Pierre-Robin sequence, and 1 associated with persistent buccopharyngeal membrane., Conclusions: We present novel fetal tongue size charts from 13 to 40 weeks of gestation. Clinical application of these nomograms may be beneficial in the prenatal diagnosis of syndromes or malformations associated with abnormal fetal tongue size., (© 2022 The Authors. Journal of Ultrasound in Medicine published by Wiley Periodicals LLC on behalf of American Institute of Ultrasound in Medicine.)

Background: No current data exists regarding the occurrence of pathological results when using Whole Exome Sequencing (WES) analysis in a subgroup of fetuses with minor abnormalities and normal Chromosomal Microarray Analysis (CMA) results., Objective: Our study aimed to report our experience with in-utero WES abnormal results, found in fetuses with minor anomalies after a normal CMA result., Methods: A retrospective study conducted in a single tertiary center, during four years, included collating data regarding fetuses with minor structural abnormalities, normal CMA results, and abnormal triple WES test results., Results: Eleven fetuses were included in the study. Eight were with cardiovascular and lymphatic drainage alterations. Two fetuses developed late third-trimester macrocephaly (head circumference ≥ +2 standard deviations), and one fetus had unilateral mildly short and bowed femur bone. In seven cases (63.6%) the parents opted to terminate the pregnancy as a result of the WES analysis results., Conclusion: Our case series raises the possibility that fetuses with even minor structural alterations and normal CMA results can have genetic variants revealable only by WES analysis which can provide critical information regarding pregnancy management.

Objective:  Congenital aortic vascular ring may present after birth with variable degrees of respiratory distress due to tracheal compression. The aim of this study was to prospectively evaluate in utero tracheal patency in correlation with postnatal outcome., Methods:  During an eight-year period, fetuses with aortic arch abnormality encircling the trachea and forming a complete ring were recruited for the study. Tracheal patency was classified as: no compression, partial compression, or complete compression. Postnatal MRI/CTangio studies were performed and outcome data was retrospectively analyzed from the medical records., Results:  Among the 46 fetuses recruited to the study, 38 had right aortic arch (RAA), and 8 presented with double aortic arch (DAA). In the RAA group 35 (92.1 %) of the fetuses presented no compression and 34 (97.1 %) of them were asymptomatic in the long-term follow-up. Three fetuses (7.9 %) in this group presented in utero compression: one was terminated at 16 weeks of gestation due to associated ominous findings, and the other two had mild respiratory symptoms around 12 months of age and underwent surgery with a good outcome. In the DAA group, all fetuses presented in utero with tracheal compression. Seven showed partial and one complete compression. Among the seven with partial compression, six were symptomatic and underwent surgery. The case with severe airway occlusion had emergency tube insertion in the delivery room and underwent surgery at 7 days but died from severe respiratory complications., Conclusion:  This is the first study to evaluate in utero tracheal patency in cases with vascular ring. It allows better prenatal and postnatal workup and follow-up including potentially life-threatening respiratory failure., Competing Interests: The authors declare that they have no conflict of interest., (Thieme. All rights reserved.)

Background: Esophageal atresia is a major anomaly of varying severity. The complexity of surgical correction depends on the presence of a distal fistula., Objective: This study aimed to determine the feasibility and accuracy of prenatal ultrasound detection of the distal fistula in fetuses diagnosed with esophageal atresia., Study Design: This was an observational study conducted at a single tertiary care center between 2019 and 2021. Included were pregnant patients carrying a fetus prenatally diagnosed with esophageal atresia that was confirmed postnatally during corrective surgery or at postmortem autopsy. During the scan, the performing investigator determined the presence or absence of a distal fistula by scanning the location of the lower esophagus during fetal breathing. Cases in which the lower esophagus was observed distending with amniotic fluid during breathing were deemed "fistula present," and the remaining cases "fistula absent." Test feasibility and performance indices, including sensitivity, specificity, and positive and negative predictive value were calculated. The offline clips and images were reviewed by 2 investigators for the assessment of interoperator agreement using Cohen's Kappa formula., Results: Included were 16 fetuses with esophageal atresia scanned between 2019 and 2021. All fetuses were successfully scanned with sufficient resolution of the area of interest during at least 3 cycles of breathing. It took a median of 8.5 minutes to determine the presence or absence of a distal fistula. The feasibility of the test was 100% (16/16). The test's sensitivity, specificity, and positive and negative predictive values were 80% (95% confidence interval, 55-100), 100% (95% confidence interval, 60-100), 100% (95% confidence interval, 65-100), and 75% (95% confidence interval, 45-100), respectively. The Cohen's Kappa for interoperator agreement was calculated to be 1, P<.001, corresponding to a "perfect" level of agreement., Conclusion: Distal fistulas in esophageal atresia can be demonstrated prenatally by targeted scanning using appropriate technique. The method provided is feasible, reproducible, and has excellent performance indices. This novel technique and observations may improve the prenatal diagnosis and counseling of esophageal atresia., (Copyright © 2022 Elsevier Inc. All rights reserved.)

Objective: Mounting evidence indicates the detrimental impact of posttraumatic stress following childbirth (PTS-FC). Nevertheless, research on preventive strategies is scarce. We recently reported that ultrasound visual biofeedback during second stage of labor was associated with immediate beneficial medical outcomes (increased pushing efficacy, decreased perineal tearing), as well as greater feelings of maternal connectedness toward her newborn immediately postlabor. The current study assessed the potential longer-term psychological benefits of these outcomes in buffering risk for PTS-FC. The study follows up the previously reported sample to examine the longitudinal clinical effect of the visual biofeedback intervention on symptoms of acute stress at 2 days postpartum and subsequent symptoms of PTS-FC at 1 month postpartum., Method: A sample of 26 nulliparous women received visual biofeedback and was compared to a group of women receiving standard obstetrical coaching. Maternal feelings of connectedness and acute stress symptoms were assessed 2 days postpartum and PTS-FC was assessed 1 month postpartum., Results: Double-mediation analyses revealed a significant indirect relation between visual biofeedback and decreased PTS-FC symptoms 1 month postpartum. The relation was significantly mediated by increased feelings of maternal connectedness immediately postpartum, which in turn was associated with decreased symptoms of acute stress 2 days postpartum., Conclusions: These results suggest that the visual biofeedback intervention during childbirth may decrease risk for PTS-FC. Importantly, findings suggest the preventive potential of fostering feelings of maternal connectedness toward her newborn to reduce symptoms of PTS-FC. (PsycInfo Database Record (c) 2022 APA, all rights reserved).

Objective: Congenital intrahepatic shunts divert highly oxygen and nutrients rich placental blood flow from the liver into the systemic flow having a negative influence on normal fetal growth and postnatal development. The ability to recognize this anomaly helps assess the possible clinical impact, counseling, and management of pregnancy. The present study aimed to propose in utero classification for the Intrahepatic Umbilical-Porto-Systemic Venous Shunt (IHUPSVS) based on our experience., Study Design: A prospective study. Grayscale ultrasound with two and three-dimensional high-definition Doppler modalities was used. IHUPSVS was defined as a diversion of blood from the liver tissue by abnormal communication between a branch of the intrahepatic Umbilical vein or the Portal veins with the systemic circulation (the Hepatic veins or the Sub-Diaphragmatic Vestibulum)., Results: Twenty-five fetuses were diagnosed with IHUPSVS. We identified three main anatomic types: I) Porto-hepatic shunt which was divided into Ia) regular single shunt (15/25, 60%) and Ib) regular multiple shunts, (6/25, 24%) II) Umbilical-Porto-Hepatic shunt divided into a) Umbilical or b) Umbilical combined with Portal hepatic shunt (2/25, 8%) and III) Cavernous- aneurysmatic shunt (2/25, 8%). All the shunts were verified by postnatal targeted sonography., Conclusions: This study creates the anatomic basis for common nomenclature and future probable updating for this anomaly., (Copyright © 2022 Elsevier B.V. All rights reserved.)

Background: Umbilical cord knot (UCK) is associated with increased risk of fetal death, but is usually diagnosed only after delivery. Our objective was to examine the accuracy of prenatal ultrasound in the diagnosis of UCK and the outcomes of these pregnancies., Methods: A prospective study was performed on 56 patients in which UCK was suspected during a routine level-II anatomical scan (study group). Data included demographics, pregnancy outcome, and short-term neonatal follow-up. The control group included pregnant women with normal pregnancy without UCK in a 4:1 ratio matched for gestational age at delivery., Results: True knot was observed postnatally in 54 out of 56 fetuses (detection rate of 96.4 %). Gestational age at diagnosis of UCK was 22.1 ± 3.1 weeks. The female to male ratio was 1:1 in both groups. Maternal age and parity were significantly higher in pregnancies with UCK compared to controls. The mean gestational age at delivery was 37.1 weeks of gestation in the UCK group. There was no difference in the birthweight percentile. 47 patients (87 %) underwent induction of labor. There were no differences in the rate of cesarean section or Apgar scores. No neonate with UCK needed ventilation. None suffered from seizures and none needed brain imaging. There were no cases of fetal or neonatal death in the pregnancies with UCK., Conclusion: There is a high detection rate of UCK during targeted scan of the umbilical cord performed during the level-II anatomical scan. Careful pregnancy follow-up and early term delivery may result in excellent obstetrical outcomes., Competing Interests: The authors declare that they have no conflict of interest., (Thieme. All rights reserved.)

Objective: Data on the value of exome sequencing in fetuses with no structural anomalies are limited, especially in the early stages of pregnancy and in low risk pregnancies. We investigated the yield of targeted clinical prenatal trio exome sequencing (pES) in pregnancies with and without fetal structural anomalies., Methods: We performed pES in 353 pregnancies: Group 1 included 143 pregnancies with high clinical suspicion for a genetic disease: pregnancies with increased nuchal translucency, ultrasound structural defects, intrauterine growth restriction, polyhydramnios, or effusion/nuchal edema. Group 2 included 210 pregnancies with no notable abnormal fetal ultrasound findings. 2a. Low risk pregnancies with minor ultrasound findings, referred to the geneticist due to mildly increased risk for genetic disease (50); and 2b. Normal pregnancy surveillance (160)., Results: Overall, 26 (7.36%) fetal analyses had pathogenic (P)/likely pathogenic (LP) variants. In group 1, 20/143 (13.99%) cases had P/LP variants. In group 2, 6/210 (2.86%) cases were found to have P/LP variants [5/50 in (2a) and 1/160 in (2b)]., Conclusion: These results show a high rate of abnormal findings on pES even in apparently normal pregnancies., (© 2021 John Wiley & Sons Ltd.)

Objective: Oesophageal atresia (OA) is a major anomaly of varying severity. The complexity of surgical correction highly depends on the gap length of missing oesophagus and the presence of a distal fistula. The aim of this study was to identify antenatal sonographic findings associated with presence of a distal fistula and type of surgical repair METHODS: Prenatal medical records of neonates postnatally diagnosed with OA were reviewed. Sonographic signs of OA (small/absent stomach, polyhydramnios, oesophageal pouch) and the trimester at sign detection were recorded and compared between (1) OA with and without a distal fistula and (2) early one-step versus delayed two-step anastomosis. Multivariate analysis was performed., Results: Overall, 80 cases of OA were included. Absence of a distal fistula was significantly associated with higher rates of small/absent stomach (100% vs 28.6%, P<0.0001), oesophageal pouch (100% vs 24.3%, P<0.0001) and severe polyhydramnios (66.7% vs 22.9%, P=0.006), compared with OA with a distal fistula.Cases requiring a delayed two-step repair had higher rates of small/absent stomach (84.2% vs 16.7%, P>0.0001), severe polyhydramnios (47.4% vs 16.7%, P=0.008) and oesophageal pouch (73.7% vs 18.5%, P<0.0001), compared with those corrected in an early one-step anastomosis.Multivariate logistic regression found small/absent stomach and pouch to be significantly and independently associated with a delayed two-step anastomosis., Conclusion: OA without a distal fistula is associated with higher rates of prenatal sonographic signs. Both small/absent stomach and a pouch are independently associated with a delayed two-step anastomosis. These findings may help improve antenatal parental counselling regarding the anticipated surgical repair., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2022. No commercial re-use. See rights and permissions. Published by BMJ.)

Background: Esophageal atresia is a major anomaly with a low prenatal detection rate. We propose a sonographic method termed dynamic esophageal patency assessment., Objective: This study aimed to assess the feasibility and performance of the dynamic esophageal patency assessment in a high-risk population., Study Design: A prospective study was conducted in a single tertiary fetal ultrasound unit for 12 months. The study group included pregnant women referred for a targeted scan because of one or more of the following: (1) polyhydramnios; (2) small or absent stomach; (3) vertebral, anal atresia, cardiac, tracheoesophageal fistula, renal, and limb abnormalities; (4) first-degree relative with esophageal atresia; and (5) genetic mutation associated with esophageal atresia. In addition to dynamic esophageal patency assessment, a comprehensive anomaly scan was carried out. The fetal esophagus was observed during swallowing. Cases that demonstrated uninterrupted fluid propagation through the esophagus were classified as normal. Cases that demonstrated interrupted fluid propagation, with the formation of a pouch, were classified as abnormal. Cases with unclear visualization of the esophagus or cases that failed to demonstrate either fluid propagation or a pouch were classified as undetermined. Dynamic esophageal patency assessment results were compared with postnatal findings, considered "gold standard." Test performance indices and intra- and interobserver agreements were calculated., Results: For 12 months, 130 patients were recruited, and 132 fetuses were scanned. The median gestational age (interquartile range) at the time of scan was 31.4 weeks (29.0-35.3). Of 132 fetuses enrolled, 123 (93.2%) were normal, 8 (6%) were abnormal, and 1 (0.8%) was undetermined. Excluded from test performance analysis were 3 cases that were terminated without postmortem autopsy (1 was abnormal and 2 were normal), and a fourth case was excluded as it was classified as undetermined. The detection rate of esophageal atresia was 100%, with no false-positive or false-negative case. Sensitivity, specificity, and positive and negative predictive values of the dynamic esophageal patency assessment were 100%. The Kappa coefficient was 1 for both inter- and intraobserver agreements (P<.0001). The median time (interquartile range) required to complete the dynamic esophageal patency assessment was 6.00 minutes (3.00-13.25)., Conclusion: The dynamic esophageal patency assessment is a feasible and highly effective method of ascertaining an intact esophagus and detecting esophageal atresia in suspected cases., (Copyright © 2021 Elsevier Inc. All rights reserved.)

Objectives: To assess the prenatal growth pattern of the normal kidney contralateral to a multicystic dysplastic kidney (MCDK)., Methods: A retrospective study was conducted in a single referral center over 4 years. Cases diagnosed prenatally as MCDK and confirmed postnatally constituted the study group. For creation of nomograms, only isolated cases of MCDK were included., Results: Sixty-one fetuses had a diagnosis of an MCDK during the study period. After exclusion of cases with associated malformations, 47 fetuses remained, providing 94 measurements for creation of nomograms. The growth pattern of the normal kidney contralateral to an MCDK was linear throughout gestation (percentile = 20.01 + 1.5 gestational age; linear R 2  = 0.753; r = 0.868) and was significantly higher during the third trimester (29-38 weeks' gestation) compared to the second trimester (22-28 weeks' gestation; P < .001). A comparison of the growth pattern of the normal kidney contralateral to the MCDK to the growth pattern of a solitary kidney revealed a significant higher compensatory trend during the third trimester (P < .0001). The mean kidney lengths at 22 and 38 weeks' gestation correlated with the 52nd and 88th and with the 84th and 90th percentiles for the normal kidney contralateral to the MCDK and a solitary kidney, respectively., Conclusions: According to our study, the normal kidney contralateral to an MCDK has a unique growth pattern during intrauterine life, with dominant growth during the third trimester. The exact mechanism for this pattern, in comparison to early renal hypertrophy shown in solitary kidneys, is currently not clear. These data provide relevant information for the multidisciplinary prenatal counseling of future parents regarding the future renal outcome., (© 2020 American Institute of Ultrasound in Medicine.)

Introduction: Maternal glycemic state is positively correlated with fetal insulin secretion. Randomized control studies have shown that treatment during pregnancy inhibits to some degree this glycemic effect. Our study aimed to assess fetal pancreas size in a population of treated mothers with gestational diabetes., Material and Methods: A cross-sectional, prospective observational study was conducted. Pregnant women at 19-36 weeks of gestation with pre-gestational diabetes receiving insulin therapy or with gestational diabetes receiving either insulin or oral hypoglycemic therapy were recruited. The fetal pancreas circumference was measured and compared to the normal reference range. The Z score of the difference between measured and normal predicted mean pancreas circumference, the regression analysis throughout pregnancy, and the correlation between estimated fetal weight centile and pancreas circumference were calculated., Results: Ninety-one women who had gestational diabetes and thirty-four women who had pre-gestational diabetes were included in the study. For both groups, fetal pancreas circumference correlated significantly with abdominal circumference, estimated fetal weight and gestational age. The mean Z score between the predicted pancreas circumference in the group of women diagnosed with gestational diabetes and the predicted pancreas circumference in a normal population peaked at around 24 weeks of gestation (1.1) and decreased gradually afterward to a value of zero at 37 weeks. The mean Z score between the predicted pancreas circumference in the group of women with pre-gestational diabetes and the predicted pancreas circumference in a normal population constantly decreased with duration of pregnancy. It was positive until the 25 th week of gestation and then presented negative values towards the term., Conclusions: The presented preliminary data suggest a possible correlation between glycemic control treatment, pancreas size, and gestational age., Competing Interests: The authors declare no conflict of interest., (Copyright: © 2021 Termedia & Banach.)

Objective: To describe the sonographic appearance of the fetal esophagus during early pregnancy and evaluate the feasibility of imaging the entire esophageal length. In addition, we present a case of disrupted esophageal continuity, subsequently diagnosed with esophageal atresia (EA)., Methods: A prospective observational study of 145 patients. During the early second trimester anomaly scan performed at 12-17 weeks' gestation the entire esophagus was captured in a single sonographic image at the midsagittal plane (one shot technique). Postnatal follow-up of esophageal patency included review of medical records and telephone interviews., Results: Complete visualization of the esophagus (neck to diaphragm) was possible in 144 cases. In 88% of cases the esophagus was demonstrated by transvaginal approach. The time required to obtain the desired view of the esophagus, once the fetus was in an optimal position, was on average 13 s (range: 5-30 s). In one case at 15 weeks' gestation, the cervical segment of the esophagus was demonstrated while the lower thoracic segment was not identified. Subsequently EA was diagnosed., Conclusions: It is feasible to demonstrate the entire esophagus during early second trimester anomaly scan. An early second trimester anomaly scan may serve as a window of opportunity for EA screening., (© 2021 John Wiley & Sons Ltd.)

Objective: To report our experience with targeted scans of the fetal pancreas., Methods: Targeted scans were performed in 16 cases referred for anatomical or genetic conditions associated with structural pancreatic malformations., Results: Four fetuses were evaluated for nephromegaly and macroglossia. In three of them, the pancreas circumference was >90th percentile. Genetic testing revealed Beckwith-Wiedemann syndrome. In the fourth case, the pancreas circumference was normal; exome sequencing revealed two heterozygous ETFDH gene mutations consistent with glutaric acidemia type II. In a case referred for non-visualization of the gallbladder, the fetal pancreas was not visualized and genetic analysis revealed a mutation in the ONECUT1 gene encoding for HNF6. Targeted scan for heterotaxia revealed three cases with variable degrees of agenesis of the pancreas, one case with a normally structured right sided pancreas and one case with a normal pancreas. Cases referred following a genetic diagnosis included a case of maternal nesidioblastosis with an extremely large fetal pancreas; and five fetuses diagnosed with a TCF2 deletion all with a normal pancreas., Conclusions: Prenatal assessment of the fetal pancreas may be a significant factor in prenatal diagnosis and counselling in cases presenting with anatomical and genetic conditions reported post-natally to be associated with pancreatic structural and functional abnormalities., (© 2021 John Wiley & Sons Ltd.)

Objective: The fetal liver circulation has an important role in fetal growth. The intra-hepatic Umbilical-Porto-Systemic Venous Shunt (IHUPSVS) causes a reduction of the umbilical blood flow to the liver and has been reported to have a restrictive effect on fetal growth. The aim of this study was to evaluate the effect of IHUPSVS on fetal growth., Methods: We conducted a retrospective cohort study of IHUPSVS diagnosed between 2001 and 2019. IHUPSVS was defined as any abnormal communication between any branch of the portal vein and hepatic vein. Pre- and postnatal characteristics were collected from medical files and compared between cases with fetal growth restriction (FGR) and those appropriate for gestational age (AGA)., Results: Twenty-five fetuses were included in the study. Eighteen (72%) had last estimated fetal weight and birth weight below the 10th centile, four (16%) of them between the third and fifth centile, and 11 (44%) below the third centile. Median gestational age at delivery was lower for FGR than AGA fetuses (37 vs. 38 weeks, p = 0.034) and rate of preterm delivery was higher (38.9 vs. 14.3, P = 0.24). Four cases had associated structural anomalies (2 in each group), and two had minor genetic aberrations (1 in each group)., Conclusions: Growth restriction is prevalent in fetuses with IHUPSVS, suggesting that fetal growth should be monitored. In equal measure, in cases with growth restriction, especially without other apparent cause, an intrahepatic shunt should be looked for., (© 2020 John Wiley & Sons Ltd.)

Objectives: First arch syndromes are congenital defects caused by failure of neural crest cells to migrate into the first branchial arch. First arch syndrome is classified into 2 main clinical manifestations: Treacher Collins syndrome, characterized by bilateral underdevelopment of the zygomatic bones; and Pierre Robin sequence. The aim of this study was to describe the feasibility of visualization of the fetal zygomatic bone and assess its application in cases referred for features suggestive of first arch syndrome., Methods: A prospective cohort study was conducted. The feasibility of visualization of the zygomatic bone was performed in 50 sequential fetuses with a normal anatomic scan between 12 and 24 weeks' gestation using 3-dimensional sonography. Following this, cases referred for targeted scans for suspected first branchial arch syndrome were assessed for the presence or absence of the zygomatic bones., Results: Visualization of the fetal zygomatic bone was feasible in all low-risk cases. Cases referred for targeted scans included 11 isolated cases of micrognathia or retrognathia, 3 cases of microtia, and 3 cases of auricular or facial vestiges. Within this group, the zygomatic bones were visualized in all but 2 cases. No associated extrafacial malformations were detected; therefore, this phenotype was consistent with Treacher Collins syndrome., Conclusions: Prenatal imaging of the zygomatic bones offers a clinically based sonographic approach to cases referred for features suggestive of first arch syndrome and enables differentiation between the 2 main clinical manifestations: Treacher Collins syndrome and Pierre Robin sequence., (© 2020 by the American Institute of Ultrasound in Medicine.)

Objective: "Bovine aortic arch" is the second most common variant of aortic arch branching, in which only two branches originate directly from the aorta. The prevalence of this condition has been reported in different studies to be around 6% in human fetuses and 11-27% in the adult population. In this study, we describe the prevalence of bovine aortic arch in fetuses, and assess the prevalence of concomitant fetal anomalies., Methods: A retrospective analysis of 417 fetuses between 15-40 weeks of gestation. Data regarding branching of the fetal aortic arch and other fetal anomalies were collected by fetal echocardiography and/or fetal ultrasonography., Results: A bovine arch was found in 20/413 fetuses (4.8%, 95CI 3.1-7.3%), of whom 14/310 (4.5%) had no fetal anomalies, and 6/77 (7.8%) exhibited minor changes (P = .241). None of the 26 fetuses with major anomalies had a bovine arch., Conclusion: Fetuses in this study had a lower prevalence of bovine aortic arch than that previously reported in adults, most probably due to differences in the population examined. This study was underpowered to determine that bovine arch is a common anatomic variant, and is not associated with fetal anomalies., (© 2019 Wiley Periodicals, Inc.)

Purpose of Review: The aim of this review is to understand why and how to improve the detection rate of the fetal anomalies in the first trimester., Recent Findings: The role of the first trimester is evolving from aneuploid and basic anatomical screening to a necessary tool to identifying early fetal malformations. In the past 20 years, several studies were conducted to assess the detection rate of anomalies in the first trimester, and despite the improvement in the diagnoses of spina bifida and cleft lip, many anomalies detectable in the first trimester are still being diagnosed in the second trimester scan. Analyzing the factors that improve the detection rate can show the reason why, even in recent years, only 50% of the anomalies are diagnosed in the first trimester., Summary: Thanks to the improvement in the ultrasound technology, the fetus can be thoroughly studied even in early gestation and it is, therefore, indispensable to increase the detection rate of the anomalies diagnosable from the first trimester. The sonographer's utmost attention should be applied to all pregnancies, not only in high-risk patients, and new protocols based on the mid trimester scan are needed to spread the concept of first trimester anatomical scan.

Background: Congenital heart defects (CHD) may be associated with neurodevelopmental abnormalities mainly due to brain hypoperfusion. This defect is attributed to the major cardiac operations these children underwent, but also to hemodynamic instability during fetal life. Advances in imaging techniques have identified changes in brain magnetic resonance imaging (MRI)in children with CHD., Objectives: To examine the correlation between CHD and brain injury using fetal brain MRI., Methods: We evaluated 46 fetuses diagnosed with CHD who underwent brain MRI. CHD was classified according to in situs anomalies, 4 chamber view (4CV), outflow tracts, arches, and veins as well as cyanotic or complex CHD. We compared MRI results of different classes of CHD and CHD fetuses to a control group of 113 healthy brain MRI examinations., Results: No significant differences were found in brain pathologies among different classifications of CHD. The anteroposterior percentile of the vermis was significantly smaller in fetuses with abnormal 4CV. A significantly higher biparietal diameter was found in fetuses with abnormal arches. A significantly smaller transcerebellar diameter was found in fetuses with abnormal veins. Compared to the control group, significant differences were found in overall brain pathology in cortex abnormalities and in extra axial findings in the study group. Significantly higher rates of overall brain pathologies, ventricle pathologies, cortex pathologies, and biometrical parameters were found in the cyanotic group compared to the complex group and to the control group., Conclusions: Fetuses with CHD demonstrate findings in brain MRI that suggest an in utero pathogenesis of the neurological and cognitive anomalies found during child development.

Objectives: Anterior urethral anomalies (AUA) which present as anterior urethral valve, stenosis or atresia, are a rare cause for congenital urinary tract obstruction. We present our AUA prenatal diagnosis case series., Methods: Fetuses presenting with prenatal findings suggestive for AUA according to postnatal reported clinical and imaging signs (urinary tract dilatation, dilated bladder, enlarged edematous fetal penis, dilatation of the fetal urethra and diverticula) were followed prospectively., Results: Six fetuses were diagnosed with AUA. Diagnosis was confirmed upon examination of the neonate or the abortus. All cases presented with variable degrees of urinary tract dilatation. Four fetuses who presented with additional congenital anomalies of the kidneys and urinary tract (CAKUT) developed intra-uterine or early postnatal renal failure, while two isolated AUA cases have a normal renal outcome., Conclusions: AUA is a rare diagnosis. However, high index of suspicion and careful sonographic assessment of the male fetal urethra in cases referred for urinary tract dilatation may enable appropriate parent counseling, optimal prenatal surveillance and timed postnatal urological intervention. As in other lower urinary tract obstructions, future renal function seems to correlate with associated CAKUT, therefore close follow up throughout pregnancy and meticulous sonographic assessment is recommended., (© 2019 John Wiley & Sons, Ltd.)

Objective: Data regarding the neurodevelopmental outcome of fetal short corpus callosum (CC) diagnosed according to standard reference charts is scarce. The purpose of this study was to assess whether the finding is related to neurodevelopmental delay, and to examine reclassification to normal fetal CC length using CC length/EFW ratio., Method: Historical prospective cohort study including pregnant women who were referred for fetal neurosonogram due to abnormal CC. Short CC was defined below the 5 th percentile according to reference charts. Twenty cases were included in the study group and compared with a control group of 59 normal cases. The patients in the study group were divided into two groups according to CC length/EFW ratio. Children's neurodevelopment was assessed using the Vineland Adaptive Behavior Scale (VABS)., Results: VABS scores were within normal range in 90% of the cases. There was no significant statistical difference between the study group and the control group. In addition, there was no statistically significant difference between fetuses reclassified as normal callosal length according to CC length/EFW ratio in comparison to the control group., Conclusion: The neurodevelopmental outcome of fetuses with diagnosed short CC did not differ from the neurodevelopment of normal fetuses in the control group., (© 2019 John Wiley & Sons, Ltd.)

Objective: To evaluate the added value of fetal MRI to ultrasound in detecting and specifying callosal anomalies, and its impact on clinical decision making., Methods: Fetuses with a sonographic diagnosis of an anomalous corpus callosum (CC) who underwent a subsequent fetal brain MRI between 2010 and 2015 were retrospectively evaluated and classified according to the severity of the findings. The findings detected on ultrasound were compared to those detected on MRI. An analysis was performed to assess whether fetal MRI altered the group classification, and thus the management of these pregnancies., Results: 78 women were recruited following sonographic diagnoses of either complete or partial callosal agenesis, short, thin or thick CC. Normal MRI studies were obtained inµ19 cases (24 %). Among these, all children available for follow-up received an adequate adaptive score in their Vineland II adaptive behavior scale assessment. Analysis of the concordance between US and MRI demonstrated a substantial level of agreement for complete callosal agenesis (kappa: 0.742), moderate agreement for thin CC (kappa: 0.418) and fair agreement for all other callosal anomalies. Comparison between US and MRI-based mild/severe findings classifications revealed that MRI contributed to a change in the management for 28 fetuses (35.9 %), mostly (25 fetuses, 32.1 %) in favor of pregnancy preservation., Conclusion: Fetal MRI effectively detects callosal anomalies and enables satisfactory validation of the presence or absence of callosal anomalies identified by ultrasound and adds valuable data that improves clinical decision making., Competing Interests: Disclosure The authors report no conflicts of interest in this work., (© Georg Thieme Verlag KG Stuttgart · New York.)

Purpose:  To report and review our experience with antenatal evaluation for fetuses diagnosed with congenital cataract., Materials and Methods:  We retrospectively identified pregnancies diagnosed with fetal cataract during antenatal ultrasound. Evaluation of fetal eyes included intraocular anatomy and biometry. Data on fetal malformations, serology and fetal karyotype were collected., Results:  8 cases, identified over the course of 10 years, were reviewed. Week 15 was the mean time for diagnosis (range 11 - 34). Extraocular anomalies were demonstrated in 6 cases (central nervous system, cardiac and renal systems). Additional intraocular abnormalities were detected in two cases: one fetus had persistent hyperplastic primary vitreous and another had bilateral retinal detachment. All cases but one involved cataracts in both eyes. The unilateral case was associated with microphthalmic aphakia. All cases had negative serology for TORCHs. 7 out of the 8 fetuses were terminated. The only one who survived developed in utero cataracts secondary to maternal steroid therapy. He underwent bilateral cataract extraction during the first weeks of life and ophthalmologic evaluation at 2 years of age was unremarkable, without any visual impairment., Conclusion:  In most cases, fetal cataract was associated with additional abnormalities, both intra- and extra-ocular. In instances when cataracts are isolated, we suggest conducting a detailed and thorough in utero ophthalmic examination in order to improve antenatal parental counselling., Competing Interests: Disclosure The authors report no conflicts of interest in this work., (© Georg Thieme Verlag KG Stuttgart · New York.)

Objective: The aim of this study was to focus on fetuses diagnosed with severe hydronephrosis and correlate prenatal sonographic characteristics with postnatal outcome., Methods: Cases presenting prenatally with severe hydronephrosis (anterior-posterior renal pelvic diameter >15 mm) were collected retrospectively over a period of 11 years and divided into 2 groups: (1) isolated hydronephrosis and (2) those associated with congenital anomalies of the kidney and urinary tract (CAKUT)., Results: A total of 83 fetuses comprised the study group: 35 fetuses had isolated severe hydronephrosis and 48 had associated CAKUT. The mean anterior-posterior renal pelvic diameter was 22.6 ± 8.5 mm (range 15.0-66.0 mm). The CAKUT group was associated with a significantly increased incidence of postnatal need for surgery (17.6% vs 44.2%, P = .014), dysplastic kidney (0% vs 14%, P = .023), and total abnormal outcome (52.9% vs 86%, P = .001) in comparison with isolated severe prenatal hydronephrosis., Conclusions: Severe fetal hydronephrosis has a wide postnatal clinical spectrum, which is mainly influenced by the presence of associated sonographic CAKUT findings. These clinical data have biological relevance: a genetic or environmental defect that influences multiple renal developmental processes leads to hydronephrosis but also to concomitant malformations (CAKUT) and critically influences renal prognosis. A more selective abnormal developmental process that results in isolated enlarged pelvis even to a severe extent has less influence on renal prognosis., (© 2018 John Wiley & Sons, Ltd.)

Objectives: The aim of the study was to assess the sonographic feasibility of measuring the fetal pancreas and its normal development throughout pregnancy., Methods: We conducted a cross-sectional prospective study between 19 and 36 weeks' gestation. The study included singleton pregnancies with normal pregnancy follow-up. The pancreas circumference was measured. The first 90 cases were tested to assess feasibility., Results: Two hundred ninety-seven fetuses of nondiabetic mothers were recruited during a 3-year period. The overall satisfactory visualization rate was 61.6%. The intraobserver and interobserver variability had high interclass correlation coefficients of of 0.964 and 0.967, respectively. A cubic polynomial regression described best the correlation of pancreas circumference with gestational age (r = 0.744; P < .001) and significant correlations also with abdominal circumference and estimated fetal weight (Pearson r = 0.829 and 0.812, respectively; P < .001). Modeled pancreas circumference percentiles for each week of gestation were calculated. During the study period, we detected 2 cases with overgrowth syndrome and 1 case with an annular pancreas., Conclusions: In this study, we assessed the feasibility of sonography for measuring the fetal pancreas and established a normal reference range for the fetal pancreas circumference throughout pregnancy. This database can be helpful when investigating fetomaternal disorders that can involve its normal development., (© 2017 by the American Institute of Ultrasound in Medicine.)

Objectives: Bladder exstrophy is a rare severe congenital malformation. Early prenatal diagnosis is scarcely described in the literature. Low insertion of the umbilical cord is a constant anatomic feature of bladder exstrophy. The aim of our study was to assess whether early measurements of the umbilical cord insertion-to-genital tubercle length may serve as quantitative measurements for a low-inserted umbilical cord in cases of bladder exstrophy., Methods: The umbilical cord insertion-to-genital tubercle length was prospectively measured in all cases referred for a nonvisualized urinary bladder before 18 weeks' gestation. Final diagnoses were compared with prenatal measurements., Results: Fifteen fetuses were evaluated for a nonvisualized bladder at a mean gestational age of 15.7 weeks (range, 14-17 weeks). Of them, 6 cases were diagnosed with bladder exstrophy, and 9 cases had a normal urinary bladder. All cases with bladder exstrophy had an umbilical cord insertion-to-genital tubercle length below the fifth percentile for gestational age, whereas cases with a normal bladder had a normal measurement., Conclusions: Fetuses with bladder exstrophy have an umbilical cord insertion-to-genital tubercle length below the fifth percentile of the general population. This measurement may serve as a complementary objective sonographic parameter in the prenatal assessment and counseling of cases suspected of having bladder exstrophy during early pregnancy., (© 2017 by the American Institute of Ultrasound in Medicine.)

Objective: Data regarding the neurodevelopmental outcome of children diagnosed in utero with isolated ventriculomegaly (IVM) are limited and principally founded on ultrasound-based studies. Here, we endeavored to assess the outcome of such cases in a large-scale, magnetic resonance imaging (MRI)-based study., Methods: We conducted a study on 133 cases of IVM with a documented fetal brain MRI scan. Children were assessed at ages 18 to 36 months by using the Vineland Adaptive Behavior Scales (VABS)., Results: Vineland Adaptive Behavior Scales scores were within normal range. There was no significant difference between VABS score in symmetric versus asymmetric IVM (101.7 vs. 101.6, respectively; p = 0.94), and the VABS score of mild IVM was comparable with that of moderate IVM (101.8 vs. 101; p = 0.8). Only five cases (3.8%) were found to have an abnormal score (<85). There was no significant difference in the rate of abnormal scores between mild and moderate IVM (2.8% vs. 8.3%, respectively; p = 0.22)., Conclusion: In cases of isolated ventriculomegaly, a normal neurodevelopmental outcome is to be expected; moreover, the outcome does not appear to be affected by the severity or asymmetry of the ventriculomegaly. Thus, following a meticulous workup, patients can be given reassuring counseling regarding the child's prognosis. © 2017 John Wiley & Sons, Ltd., (© 2017 John Wiley & Sons, Ltd.)

Introduction: Fetal and placental tumors are associated with high prevalence of obstetrical complications and poor fetal outcome. The aim of our study was to assess the added value of serial fetal Tricuspid Annular Plane Systolic Excursion (f-TAPSE) measurements for monitoring cardiac function in cases of fetal and placental tumors., Methods: Serial measurements of f-TAPSE were performed prospectively in fetuses referred for fetal and placental tumors. The patients were followed longitudinally every 2 weeks. In each visit, tumor measurements, Doppler flow indices, fetal cardiothoracic index and measurements of f-TAPSE were performed., Results: During the study period, 11 fetuses were followed prospectively: seven chorioangiomas and four fetal tumors. In eight cases, the f-TAPSE was measured in the upper range for gestational age. In three cases of small or poorly vascularized tumors, the measurements were within the 50th percentile for gestational age. In two cases who presented with elevated f-TAPSE, a regression in the f-TAPSE percentile was observed: in the first case, the tumor regressed; however, in the second case, the f-TAPSE pseudo normalized and was followed by cardiac decompensation., Conclusions: f-TAPSE may serve as a complementary tool for assessing tumors associated hyper-dynamic state and early diagnosis of cardiac decompensation. © 2017 John Wiley & Sons, Ltd., (© 2017 John Wiley & Sons, Ltd.)

Objective: The objective of this study is to investigate prenatal diagnosis and postnatal outcome of fetuses with crossed ectopic kidney., Method: Cases referred for an empty renal fossa and diagnosed with crossed ectopic kidney confirmed postnatally were analyzed retrospectively over a period of 10 years. Prenatal diagnosis was established following the detection of one kidney in a normal position and a second ipsilateral kidney fed by abnormal blood vessels on Doppler flow RESULTS: Between 2005 and 2015, 185 fetuses were referred for an empty renal fossa. Crossed ectopic kidney was diagnosed in 10 of them. Associated congenital urological anomalies included two cases of double collecting system and bilateral hydronephrosis in one. Associated extra renal findings were single umbilical artery (4/10), ventricular septal defects (1/10), and persistent left superior vena cava (1/10). On postnatal follow-up, bilateral vesicoureteral reflux was diagnosed in a case who presented prenatally with bilateral hydronephrosis and two cases of mild hydronephrosis. All cases were managed conservatively., Conclusion: Crossed ectopic kidney should be suspected in cases presenting with an empty renal fossa and a normal positioned kidney. Thorough anatomical scan should be performed as well as periodic follow-up throughout pregnancy. Postnatal nephrological follow-up is recommended. © 2017 John Wiley & Sons, Ltd., (© 2017 John Wiley & Sons, Ltd.)

Objectives: The purpose of this study was to describe the characteristics and outcomes of fetuses with a diagnosis of nonobstructive diffuse dilated bowel loops., Methods: We conducted a retrospective study of all pregnancies with fetal diagnosis of nonobstructive diffuse dilated bowel loops over 14 years in a large tertiary referral center. Fetomaternal and neonatal characteristics and outcomes were assessed., Results: Seven fetuses had sonograms showing diffuse dilated bowel loops; none of them had intestinal obstruction after labor. The median gestational age at diagnosis was 33 weeks 1 day (range, 27 weeks-34 weeks 1 day). The median gestational age at delivery was 34 weeks 1 day (range, 32 weeks 4 days-39 weeks 1 day). Four cases had premature rupture of membranes beyond 32 weeks. Four among the 7 had gastrointestinal manifestations. Three cases presented with hematochezia, which resolved with conservative treatment. One fetus had intractable diarrhea, had a diagnosis of rare microvillus inclusion disease, and died of sepsis after 92 days. Not a single case of Hirschsprung disease was observed in our group., Conclusions: Nonobstructive diffuse dilated bowel loops diagnosed in the second half of pregnancy are associated with premature rupture of membranes and premature labor. As neonatal gastrointestinal complications may be anticipated, prenatal parental counseling with a neonatologist and pediatric gastroenterologist should be conducted., (© 2016 by the American Institute of Ultrasound in Medicine.)

Objectives: Recent research provides evidence that anogenital distance may serve as a novel metric to assess reproductive potential in men. In children, a shorter anogenital distance was linked with cryptorchidism, hypospadias, and micropenis. Scarce data exist in the literature regarding anogenital distance measurement in the fetus. The aim of our study was to assess whether intrauterine measurement of fetal anogenital distance could assist in the differential diagnosis of male genital anomalies., Methods: Anogenital distance was prospectively measured in all cases referred for suspected isolated abnormal male genitalia. Final diagnoses, confirmed by a pediatric urologist, were compared with anogenital distance prenatal measurements., Results: Fifty-two cases were referred for evaluation because of suspected male external genital malformation during a 12-month period. Cases with normal-appearing genitalia, associated major malformations, and early severe fetal growth restriction were excluded from the study. Postnatal examination revealed 14 cases of hypospadias in varying severity and 8 cases of a buried penis. All fetuses with hypospadias had an anogenital distance measurement below the fifth percentile. Statistical analysis revealed a significant difference between the normal mean anogenital distance for gestational age versus those with hypospadias (mean ± SD, 16.90 ± 4.08 and 11.68 ± 3.31 mm, respectively; P = .001). No significant difference was found between the normal mean anogenital distance for gestational age versus those with a buried penis (18.85 ± 2.76 and 19.46 ± 3.41 mm; P = .700)., Conclusions: Fetuses with hypospadias have a statistically significant shorter anogenital distance compared with the general population. Therefore, anogenital distance may serve as a complementary objective sonographic parameter in the prenatal assessment and counseling of male external genital anomalies., (© 2016 by the American Institute of Ultrasound in Medicine.)

Background: Methods available for assessing the learning curve, such as a predefined number of procedures or direct mentoring are lacking. Our aim was to describe the use of a statistical method to identify the minimal training length of an experienced sonographer, newly trained in deep infiltrating endometriosis (DIE) mapping by evaluating the learning curve of transvaginal ultrasound (TVUS) in the preoperative assessment of endometriosis., Methods: A retrospective study in a tertiary referral center for endometriosis. Reports and stored data from TVUS scans performed by one operator with training in general gynecological ultrasound, but not in endometriosis mapping, were analyzed retrospectively for patients who subsequently underwent laparoscopy, which served as a reference standard. The performance of TVUS was assessed for the following sites: endometriomas, bladder, vagina, pouch of Douglas, bowel and uterosacral ligaments, and correlated with laparoscopic findings. Sensitivity, specificity, PPV, NPV, and accuracy were calculated, and the operator's diagnostic performance was assessed using the learning curve cumulative summation test (LC-CUSUM)., Results: Data from 94 women were available for analysis. The learning curve using the LC-CUSUM graph showed that the sonographer reached the predefined level of proficiency in detecting endometriosis lesions after 20, 26, 32, 31, 38, and 44 examinations for endometriomas, bladder nodules, vaginal nodules, pouch of Douglas obliteration, bowel nodules, and uterosacral ligament nodules, respectively., Conclusions: LC-CUSUM allows monitoring of individual performance during the learning process of new methodologies. This study shows that a sonographer trained in general gynecologic ultrasonography, who devotes time to learn TVUS for DIE mapping, can achieve proficiency for diagnosing the major types of endometriotic lesions after examining less than 50 patients who subsequently undergo surgery in a training setting.

Objective: The objective of this study is to evaluate the fetal cerebral vasculature by three-dimensional (3D) ultrasonography and Doppler technologies in normal fetuses and to describe a systematic method for analysis of volume data sets., Methods: 3D volumes of the fetal brain were acquired prospectively in 25 patients between 12.3 and 36.3 weeks' gestation. Volumes were acquired with high-definition Doppler flow. The feasibility of identifying the fetal cerebral blood vessels and venous sinuses was analyzed., Results: A step-by-step systematic approach to identify the cerebral vasculature from ultrasonographic volume data sets was developed. The volumes were rotated into a standard anatomic orientation in the multiplanar display, and then, by systematic navigation, the vessels were demonstrated. Arteries of the circle of Willis, basilar artery, pericallosal artery, and internal carotid arteries were demonstrated in more than half of the fetuses. Tiny vessels such as those that supply the cerebellum and those that branch from the pericallosal artery were demonstrated in less than 50% of the volumes., Conclusions: The essential fetal cerebral vessels can be visualized by 3D volume analysis. Systematic analysis enables identification of the fetal brain arteries, veins, and sinuses and provides knowledge about anatomical variations and the diversity of human anatomy. © 2016 John Wiley & Sons, Ltd., (© 2016 John Wiley & Sons, Ltd.)

Objectives: The purpose of this study was to demonstrate the normal perimeter and area of the three orthogonal planes (axial, sagittal and coronal) of the fetal Sylvian fissure along pregnancy using 3-dimensional (3D) ultrasound., Methods: Ultrasound volumes of fetal head were acquired prospectively in 55 fetuses between 12 and 33 gestational weeks. All volumes were analyzed offline by two examiners separately. The largest axial, sagittal and coronal planes of the Sylvian fissure were identified, and the area and perimeter were measured., Results: Measurements of the Sylvian fissure were demonstrated in 54 out of 55 volumes (98%). In all three planes, a linear growth was demonstrated along gestation. All measurements significantly correlated to gestational age and head circumference (p < 0.01). The Sylvian fissure was found to grow asymmetrically, more at the anterior-posterior direction than laterally or to the inferior-superior directions., Conclusions: The Sylvian fissure grows linearly and has a distinct form in each developmental stage. The fissure is identifiable and measurable as early as 12 weeks gestation., (© 2015 John Wiley & Sons, Ltd.)

Objective: Hirschsprung disease (HD) is a rare gastrointestinal disorder. Our aim was to study the prenatal ultrasound findings of children who were diagnosed with HD after birth., Methods: The study population included children who suffered from HD between 1990 and 2008. Data of anomaly scan findings in prenatal ultrasound, demographic and post-natal physical abnormalities and treatment were retrieved from medical files and interviews with the parents., Results: Twenty-two patients confirmed histopathological diagnosis of HD at age of 1 day to 15 months. Nineteen fetuses had anomaly scan during pregnancy, which revealed minor sonographic abnormalities in three fetuses; two of them had hyperechogenic bowel. One fetus with hyperechogenic bowel had polyhydramnion, and another had a family history of three brothers with HD. A third fetus had dilated pelvic kidney. None of them had sonographic evidence of bowel dilatation. After birth, six patients (31%) were found to have other structural anomalies: ventriculoseptal defect, atriseptal defect, atrio-ventricular septal defect, and pyloric stenosis., Conclusions: Abnormal sonographic findings of fetal bowel are absent in the vast majority of fetuses who are diagnosed with HD after birth. In women with a family history of HD, a third trimester anomaly scan may be warranted., (© 2015 John Wiley & Sons, Ltd.)

Objectives: Blood vessel resistance is assessed by flow velocity indexes. However, the actual resistance should be more strongly correlated with vessel diameter rather than variations in flow velocity. We aimed to determine the utility of middle cerebral artery (MCA) diameter measurement as a tool for evaluating brain sparing effect in intrauterine growth-restricted (IUGR) discordant twins., Methods: Ten dichorionic-diamniotic twin pairs with weight discordance were included in the study. Fetal assessment included estimated fetal weight, umbilical artery flow, MCA flow and MCA diameter. Paired statistical analysis was used to compare MCA diameter and MCA pulsatility index (PI) between the discordant twins., Results: MCA diameter was significantly larger in the smaller twin (mean diameter 3.55 ± 0.26 vs 2.71 ± 0.22, P = 0.018, mean ratio 1.39 ± 0.14). There was no significant difference in MCA PI values within the twin pairs (mean PI 1.51 ± 0.13 vs 1.57 ± 0.07, P = 0.878, mean ratio 0.99 ± 0.11)., Conclusions: Measurement of MCA diameter can potentially be used as a tool for assessing vessel resistance. Further studies are needed to assess the feasibility and sensitivity of this method as well as the clinical significance of MCA dilatation in the presence of normal Doppler flow indexes., (© 2014 John Wiley & Sons, Ltd.)

Objectives: The objective of this article is to investigate whether sonographic identification of the fetal anal mucosa (AM) can assist in the diagnosis of anal atresia (AA) in fetuses referred for congenital anomalies of kidney and urinary tract (CAKUT) malformation., Methods: During a 3-year study period, 245 fetuses referred for CAKUT were prospectively examined for the presence of the AM on an axial trans-perineal view. The prenatal findings were confirmed clinically., Results: The AM was identified in all but two fetuses. The diagnosis of AA was confirmed clinically. In two additional cases, the babies were born with imperforated anus. In the first case, the AM was identified prenatally. The baby was born with a thin membrane covering the anal pit, which was easily penetrated revealing a patent anal canal. The second case was a false-negative, in which the echogenic ischial tuberosity was falsely mistaken for the AM. None of the cases earlier had bowel dilatation or enterolithiasis. Overall, the incidence of AA in our group was 30-fold relative to the general population (1.2% vs 0.04%)., Conclusions: In a CAKUT population, absence of the AM in the posterior perineal triangle in the axial trans-perineal view emerges as an important sonographic marker for prenatal diagnosis of AA., (© 2014 John Wiley & Sons, Ltd.)

Objectives: In pediatrics, anogenital distance (AGD) serves as a bioassay of normal phenotypic androgen action on the external genitalia. Recently, hypospadias and cryptorchidism were reported to be associated with reduced AGD. No normal reference ranges exist for fetuses throughout gestation. This study defines the normal centile chart of the AGD, in male and female fetuses, between 20 and 35 weeks of gestation., Methods: Participants were low-risk pregnant women, 20 to 35 weeks of gestation. All fetuses were singleton, with normal anatomic scan and appropriate fetal biometry for gestational age. Fetal AGD was measured by transabdominal ultrasound. The perineum was assessed in the axial plane. The distance was measured from the center of the anus to the posterior convergence of the fourchette in female fetuses and to the posterior base of the scrotum in male fetuses. Statistical analysis included the construction of the normal, modeled, centile, and standard deviation range, for each gestational age. Intraobserver and interobserver variability was assessed by the interclass correlation and Bland-Altman plot., Results: Adequate measurements were obtained for 218 female and 206 male fetuses. For 17 cases, measurements were not possible because of fetal lie. AGD increased linearly throughout gestational age (GA) (r(2)  = 0.808) for both sexes and was expressed by the following regression equation: for male fetuses, -12.348 + 1.075*GA, and for female fetuses, -3.179 + 0.513*GA, where GA is gestational age. The normal centiles, means, and standard deviations, per week, are presented., Conclusion: AGD measurement in utero is feasible. These measurements assess the normality of the perineal region and may assist in the detection of genital anomalies., (© 2014 John Wiley & Sons, Ltd.)

Objective: This study aimed to compare measurement of the lateral cerebral ventricular diameter using either the traditional axial view or the coronal plane., Materials and Methods: We performed a prospective study on 144 fetuses, 77 evaluated as part of a routine fetal scan and 67 referred for a neurosonogram. Distal lateral ventricles were measured both in axial and coronal plane., Results: Good visualization of the ventricles was achieved in 91% of the cases using the coronal plane (both ventricles) and in 95% of the cases using the axial plane (only the distal ventricle) (p > 0.001). The mean width of the distal lateral ventricle in the axial plane was 7.9 ± 1.9 mm versus 8.2 ± 1.9 mm on the coronal plane (p < 0.001). This larger diameter by 0.3 mm was not dependent on the indication for the scan or the gestational age. Slight asymmetry was present on coronal images in the routine group (0.2 mm), and that was even larger in the referral group (1.6 mm) (p < 0.001)., Conclusion: Coronal measurement of both ventricles is feasible and has the advantage over measurement in the axial view in which only the distal ventricle is clearly visible and measurable., (© 2013 John Wiley & Sons, Ltd.)

Objective: To evaluate fetal secondary palate in fetuses at 12 to 16 weeks' gestation by three-dimensional ultrasound., Methods: Between June 2006 and July 2008, volumes of palate were prospectively acquired in fetuses at gestational age of 12 to 16 weeks. Acquisition was performed when the fetus was facing the transducer with head extended at an angle of 30° to 40° to the ultrasound beam. Secondary palate was assessed off-line., Results: Secondary palate was assessed in 45 fetuses with normal face anatomy and 4 fetuses with malformations of the face (one with retrognathia, one with retrognathia and micrognathia, one with cleft lip and one with cleft lip and primary palate). The secondary palate was visualized in 19/49 (38.7%) fetuses: in 2/49, only hard palate was demonstrated; in 6/49, only soft palate and in 11/49, both hard and soft palate were fully demonstrated., Conclusion: Information concerning evenness of secondary palate may be provided by three-dimensional ultrasound in 38.7% of examined fetuses at 12 to 16 weeks of gestation. This examination should be offered in pregnancies at high risk for cleft palate., (© 2013 John Wiley & Sons, Ltd.)

Objective: The aim of this research was to evaluate the ability of three-dimensional (3D) ultrasound for demonstrating the palate of fetuses at high risk for cleft palate., Method: Fifty-seven fetuses at high risk for cleft palate were referred for specialist ultrasound at 12-40 weeks' gestation. A detailed assessment of palate was made using both two-dimensional and 3D ultrasounds on the axial plane. Antenatal diagnoses were compared with postnatal findings., Results: Cleft palate was suspected in 13 (22.8%); a normal palate was demonstrated in 38 (67%), and in six (10.2%), the palate view could not be obtained. Mean gestational age at the first visit was 27 weeks 6 days (range of 12-40 weeks 3 days). Examination after delivery revealed that one of the 38 fetuses with presumed normal palate had a cleft hard palate, and one had a cleft soft palate (false negative 5%). Among the 13 fetuses with suspected cleft palate, three had an intact palate (false-positive 23%). Sensitivity, specificity, positive predictive value, and negative predictive value of detection of palatal clefts were 71.4%, 91.9%, 62.5%, and 94.4%, respectively., Conclusion: Using 3D technology, we diagnosed a cleft palate in 83% of high-risk cases, with 5% false negative. 3D technology might produce some technical artifacts resulting in a 23% false-positive rate., (© 2013 John Wiley & Sons, Ltd.)

Objective: To increase awareness to the possibility of nemaline myopathy (NM) when abnormal prenatal ultrasound findings appear together with a carrier state for the common exon 55 deletion in the nebulin gene (NEB) of an Ashkenazi Jewish parent., Methods: We describe four unrelated pregnancies with abnormal prenatal ultrasound findings resulting in the birth of newborns with NM, where one or both parents were of Ashkenazi Jewish origin. Data was collected retrospectively from the patients' medical files. Molecular analysis of NEB was performed on the DNA from the patients and parents., Results: Prenatal ultrasound findings included polyhydramnios, decreased fetal movements, club feet, and arthrogryposis. A biopsy from two of the newborns was consistent with NM. In all of the newborns, the common NEB exon 55 deletion was detected in the heterozygote state and in three of them, a second novel mutation was found., Conclusions: Ultrasonographic findings suggestive of a myopathy and a carrier state for the NEB exon 55 deletion in one of the parents should trigger a thorough investigation for NM. The extreme size of NEB imposes great difficulties when searching for a second mutation, especially under the time constraints of an ongoing pregnancy., (© 2012 John Wiley & Sons, Ltd.)

Objectives: The purpose of this study was to describe the characteristics and outcomes of umbilical cord hernias diagnosed prenatally., Methods: We conducted a retrospective study of all pregnancies with the diagnosis of a fetal umbilical cord hernia during a 5-year period. All women received care from a multidisciplinary team and underwent complete meticulous sonography for structural malformations as well as fetal echocardiography and amniocentesis., Results: Between 2004 and 2009, isolated fetal umbilical cord hernias were diagnosed in 8 pregnant women. The gestational ages at the time of referral ranged from 16 to 28 weeks (median, 20 weeks). In 1 case, intrauterine fetal death occurred at 35 weeks due to rupture of the umbilical cord. All remaining cases were delivered at 36 to 40 weeks, and the neonates underwent corrective surgery with good outcomes., Conclusions: Despite 1 case complicated by intrauterine fetal death in this study, the outcome of an isolated fetal umbilical hernia seems favorable.

Objective: The objective of the study was to evaluate the magnitude of normal fetal brain asymmetry., Study Design: This was a prospective study. Normal fetuses between 19-28 weeks of gestation were studied. The cerebral atria, occipital cortex, and hemispheres in both sides were measured. The difference between each side was evaluated and was correlated with sex, head biometry, and estimated weight., Results: Four hundred six fetuses were studied. Mean atrial width was larger in the males and on the left side (5.2% and 6.5%, respectively). Mean cortical width was 2.6% larger in males but 5.5% thinner on the left side. Mean hemisphere width was larger in males and on the left side (2.3% and 1.5%, respectively). The atria and the cortex presented an inverse relationship regarding fetal growth parameters., Conclusion: Brain asymmetry represents normal fetal brain developmental phenomena. It is sex dependent and lateralized in most cases to the left. Lateralization was more accentuated in males., (Copyright 2010 Mosby, Inc. All rights reserved.)