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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) 2020 APA, all rights reserved).

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.Our study aimed to report our experience with in-utero WES abnormal results, found in fetuses with minor anomalies after a normal CMA result.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.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.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.

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.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).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)].These results show a high rate of abnormal findings on pES even in apparently normal pregnancies.

These practice guidelines follow the mission of the World Association of Perinatal Medicine in collaboration with the Perinatal Medicine Foundation, bringing together groups and individuals throughout the world, with the goal of improving the ultrasound assessment of the fetal Central Nervous System (CNS) anatomy. In fact, this document provides further guidance for healthcare practitioners for the evaluation of the fetal CNS during the mid-trimester ultrasound scan with the aim to increase the ability in evaluating normal fetal anatomy. Therefore, it is not intended to establish a legal standard of care. This document is based on consensus among perinatal experts throughout the world, and serves as a guideline for use in clinical practice.

ObjectiveOesophageal 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 repairMethodsPrenatal 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.ResultsOverall, 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%, PCases 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%, PMultivariate logistic regression found small/absent stomach and pouch to be significantly and independently associated with a delayed two-step anastomosis.ConclusionOA 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.

This recommendation document follows the mission of the World Association of Perinatal Medicine in collaboration with the Perinatal Medicine Foundation. We aim to bring together groups and individuals throughout the world for standardization to implement the ultrasound evaluation in labor ward and improve the clinical management of labor. Ultrasound in labor can be performed using a transabdominal or a transperineal approach depending upon which parameters are being assessed. During transabdominal imaging, fetal anatomy, presentation, liquor volume, and placental localization can be determined. The transperineal images depict images of the fetal head in which calculations to determine a proposed fetal head station can be made.

We present the prenatal imaging and whole exomics sequencing with the newly described Snijders Blok-Campeau macrocephaly syndrome.

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.

Placenta accreta spectrum constitutes one of the most complicated challenges in modern obstetrics. Given the conflicting data regarding the added value of MRI in the diagnosis of invasive placentation, we aim to assess individual and combined ability of multiple sonographic and MRI signs to diagnose placenta accreta spectrum in suspected cases.We assessed 28 cases of suspected placenta accreta spectrum in the third trimester. All cases underwent ultrasound assessment as well as MRI scan. Diagnosis was confirmed during surgery. The value of sonographic and MRI signs in the detection of placenta accreta spectrum was assessed.A total of 23 cases were diagnosed with placenta accreta spectrum during cesarean delivery. Overall, ultrasound was found to be more sensitive and specific compared to MRI (sensitivity of 0.96 and specificity of 0.6 in ultrasound vs. sensitivity of 0.83 and specificity of 0.4 in MRI). However, the use of a post-hoc structured model improved MRI performance to a similar level of ultrasound (sensitivity of 0.96 and specificity of 0.6).Ultrasound is superior to MRI in the detection of placenta accreta spectrum. However, MRI performance can be greatly improved by the use of a structured scoring system.

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. 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. 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. 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.ZIEL: Nach der Geburt kann ein kongenitaler Aorten-Gefäßring mit unterschiedlich starker Atemnot aufgrund einer Trachealkompression auftreten. Das Ziel dieser Studie war die prospektive Bewertung der Durchgängigkeit der Trachea in utero in Korrelation mit dem postnatalen Outcome. Über einen Zeitraum von 8 Jahren wurden Föten mit einer Anomalie des Aortenbogens, der die Trachea umschloss und einen vollständigen Ring bildete, für die Studie rekrutiert. Die tracheale Durchgängigkeit wurde wie folgt klassifiziert: keine Kompression, partielle Kompression oder vollständige Kompression. Postnatale MRT-/CT-Angio-Studien wurden durchgeführt und Daten zum Outcome wurden aus den medizinischen Unterlagen retrospektiv analysiert. Von den 46 für die Studie rekrutierten Föten hatten 38 einen rechten Aortenbogen (RAA) und 8 einen doppelten Aortenbogen (DAA). In der RAA-Gruppe zeigten 35 (92,1 %) Föten keine Kompression und 34 (97,1 %) dieser Föten waren im Langzeit-Follow-up asymptomatisch. Drei Föten (7,9 %) in dieser Gruppe zeigten eine Kompression in utero: eine Schwangerschaft wurde in SSW 16 aufgrund assoziierter verdächtiger Befunde beendet, die anderen beiden Kinder hatten im Alter von etwa 12 Monaten leichte respiratorische Symptome und wurden mit gutem Ergebnis operiert. In der DAA-Gruppe zeigten alle Föten eine intrauterine Trachealkompression. Sieben zeigten eine partielle und 1 Fetus eine vollständige Kompression. Von den 7 Kindern mit partieller Kompression waren 6 symptomatisch und wurden operiert. Im Fall des schweren Atemwegsverschlusses wurde das Kind im Kreißsaal notfallmäßig intubiert und nach 7 Tagen operiert, verstarb jedoch an schweren respiratorischen Komplikationen. Dies ist die erste Studie, die die Durchgängigkeit der Trachea in utero bei Föten mit Gefäßring untersucht. Sie ermöglicht eine bessere prä- und postnatale Versorgung und Nachbetreuung einschließlich eines potenziell lebensbedrohlichen Atemversagens.

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.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.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.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.Der Nabelschnurknoten (UCK) ist mit einem erhöhten Risiko für intrauterinen Fruchttod verbunden, wird jedoch normalerweise erst nach Entbindung diagnostiziert. Unser Ziel war es, die Genauigkeit des pränatalen Ultraschalls bei der Diagnose des UCK und das Schwangerschafts-Outcome zu untersuchen.Eine prospektive Studie wurde an 56 Patienten durchgeführt, bei denen ein UCK während eines routinemäßigen anatomischen Scans der Stufe II (Studiengruppe) vermutet wurde. Die Daten umfassten demografische Daten, den Schwangerschaftsausgang und eine kurzfristige Nachbeobachtung von Neugeborenen. Die Kontrollgruppe umfasste schwangere Frauen mit normaler Schwangerschaft ohne UCK in einem Verhältnis von 4:1, mit Matching nach Schwangerschaftswoche bei Entbindung.Echte Knoten wurden postnatal bei 54 von 56 Föten beobachtet (Nachweisrate 96,4 %). Das Gestationsalter bei Diagnose des UCK betrug 22,1 ± 3,1 Wochen. Die Weiblich:Männlich-Ratio betrug in beiden Gruppen 1:1. Das mütterliche Alter und die Parität waren bei Schwangerschaften mit UCK im Vergleich zu den Kontrollen signifikant höher. Das mittlere Gestationsalter bei Entbindung betrug in der UCK-Gruppe 37,1 Schwangerschaftswochen. Bei der Perzentile des Geburtsgewichts gab es keinen Unterschied. Bei 47 Patienten (87 %) wurde die Geburt eingeleitet. Es gab keine Unterschiede in der Kaiserschnittrate oder bei den Apgar-Scores. Keines der Neugeborenen mit UCK musste beatmet werden. Keines litt unter Krampfanfällen, noch war eine Hirn-Bildgebung erforderlich. Bei den Schwangerschaften mit UCK gab es keine Fälle von fetalem oder neonatalem Tod.Es gibt eine hohe Detektionsrate von UCK bei der gezielten Untersuchung der Nabelschnur, die bei der anatomischen Level-II-Untersuchung durchgeführt wird. Eine sorgfältige Betreuung der Schwangerschaft und eine frühe Entbindung können zu einem hervorragenden geburtshilflichen Outcome führen.

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.

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.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.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 (rWe 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.

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.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).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.This study creates the anatomic basis for common nomenclature and future probable updating for this anomaly.

Esophageal atresia is a major anomaly of varying severity. The complexity of surgical correction depends on the presence of a distal fistula.This study aimed to determine the feasibility and accuracy of prenatal ultrasound detection of the distal fistula in fetuses diagnosed with esophageal atresia.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.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.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.

To evaluate the long-term outcome of fetuses with a diagnosis of isolated short long bones. A retrospective review was conducted of all cases diagnosed with short long bones above 20 weeks of gestation during 2010–2017 in a single tertiary center. Exclusion criteria included abnormal sonographic findings other than short long bones, suspected genetic syndromes, chromosomal abnormalities, and abnormal Doppler flow indices. Follow-up was carried out by telephone questionnaire. During the study period, 54 (24.32%) women met inclusion criteria. Mean gestational age at delivery was 38.05 years (± 2.42 SD). Mean birth weight was 12–19th percentile according to the local fetal growth charts [2645 g (± 684 SD) 95% CI 2173–2980]. Median time for post-natal follow-up was 9.3 years (IQR 6.6–10.75). Growth below the 10th percentile was demonstrated in 27 (50%) children. 11 (20.37%) children were followed up by endocrinological clinics, of them 7 (12.96%) were treated with growth hormone. Three (5.6%) of the children were diagnosed with attention deficit hyperactivity disorder, an incidence that is considered lower than that of the general population (± 9%). Prenatal fetal isolated short long bones diagnosed during the late second and third trimester is associated with short stature. No neurodevelopmental impact was observed in our study group.

Purpose: To assess the value of pre-labor maternal and fetal sonographic variables to predict an unplanned operative delivery.Methods: In this prospective study, nulliparous women were recruited at 37.0-42.0 weeks of gestation. Sonographic measurements included estimated fetal weight, maternal pubic arch angle, and the angle of progression. We performed a descriptive and comparative analysis between two outcome groups: spontaneous vaginal delivery (SVD) and unplanned operative delivery (UOD) (vacuum-assisted, forceps-assisted and cesarean deliveries). Multivariate logistic regression with ROC analysis was used to create discriminatory models for UOD. Results: Among 234 patients in the study group, 175 had a spontaneous vaginal delivery and 59 an unplanned operative delivery. Maternal height and pubic arch angle (PAA) significantly correlated with UOD. Analysis of Maximum Likelihood Estimates revealed a multivariate model for the prediction of UOD, including the parameters of maternal age, maternal height, sonographic PAA, angle of progression (AOP), and estimated fetal weight, with an area under the curve of 0.7118. Conclusion: Sonographic parameters representing maternal pelvic configuration (PAA) and maternal-fetal interface (AOP) improve the prediction ability of pre-labor models for a UOD. These data may aid the obstetrician in the counseling process before delivery.

The aim of this study was to describe the prenatal diagnosis of Major Aortopulmonary Collateral Arteries (MAPCAs), and to present a systematic ultrasound method for evaluating lung vascularity in fetuses with pulmonary atresia with ventricular septal defect (PAVSD) and agenesis of ductus arteriosus (DA).This retrospective study evaluated fetuses diagnosed with PAVSD with agenesis of DA, for the presence of the MAPCAs anomaly. Fetal pulmonary vasculature was investigated by 2D and 4D Spatio Temporal Image Correlation (STIC) technology using High Definition Color Doppler.Over a 10 year period, six fetuses were diagnosed with MAPCAs. Prenatal diagnosis was made between 17 w 6 d and 28 w 4 d in five fetuses, with the sixth diagnosed at 37 w 6 d. All six had PAVSD with agenesis DA, four exhibited pulmonic atresia without any arterial outflow, while two fetuses presented with absent left pulmonary artery, and a miniscule right pulmonary artery. In five cases, the parents elected to terminate the pregnancy and the last, although born alive, did not survive an attempt at restorative surgery and died at the age of 5 months. Postnatal CT angiography imaging of this case revealed the subclavian origin of the MAPCAs. Chromosomal micro array analysis of the amniotic fluid revealed that five of the six fetuses were normal and one was lost to follow up.MAPCAs should be investigated in cases of PAVSD with agenesis DA. A meticulous ultrasound evaluation using 2D and 4D STIC can permit the prenatal diagnosis of this anomaly and provide the parents with the opportunity for prenatal consultation.

Esophageal atresia is a major anomaly with a low prenatal detection rate. We propose a sonographic method termed dynamic esophageal patency assessment.This study aimed to assess the feasibility and performance of the dynamic esophageal patency assessment in a high-risk population.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.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).The dynamic esophageal patency assessment is a feasible and highly effective method of ascertaining an intact esophagus and detecting esophageal atresia in suspected cases.

The importance of the pelvis, as a relevant factor in the birth process, dates back to the beginning of the eighteenth century. In 1701, the Dutch obstetrician and orthopedic Hendrik van Deventer (Fig. 2.1) published a handbook for midwives, in which he described with precision the pelvis. He distinguished between three types of pelvis responsible for difficult births: too wide, too small, and too narrow [1].

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 R2 = 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

An aberrant right subclavian artery (ARSA) can be overlooked by the conventional method as described by Chaoui et al., due to acoustic shadowing. The aim of this study was to evaluate the feasibility and accuracy of a novel screening method for ARSA by demonstrating the brachiocephalic artery bifurcation, referred to as the &ldquo, No ARSA&rdquo, sign. A prospective study conducted at a tertiary care center between 2018 and 2019 included unselected pregnant patients at a median gestational age of 15.1 (14.2&ndash, 22.1, IQR (inter-quartile range)) weeks, who had been referred for a routine or targeted anomaly scan. All participants were scanned for the presence or absence of ARSA using both the conventional and the novel &ldquo, methods for validation purposes. A total of 226 unselected patients were enrolled in the study. The &ldquo, sign was visualized in 218 fetuses (96.5%). In the remaining 8 cases (3.5%), the &ldquo, sign was not demonstrated. In these fetuses, an ARSA was visualized by the conventional method. The new method exhibited 100% feasibility and was in complete agreement with the conventional method. Intra- and inter-observer agreement was excellent (&kappa, = 1). The results of the study suggest that the &ldquo, sign is an efficient and reliable screening tool for ARSA.

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 week's gestation the entire esophagus was captured in a single sonographic image at the mid sagittal 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 trans-vaginal approach. The time required to obtain the desired view of the esophagus, once the fetus was in an optimal position, was on average 13 seconds (range 5-30 seconds). In one case at 15 week's 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. WHAT'S ALREADY KNOWN ABOUT THIS TOPIC?: The prenatal diagnosis of esophageal atresia (EA) is challenging. Currently, EA has a low prenatal detection rate ranging from 24% to 32%. Prenatal signs suggestive of EA are polyhydramnios and/or small or absent stomach. The pouch sign is the only prenatal diagnostic sign of EA, however, its detection requires significant expertise. A recent publication found that the early anomaly scan, in its current form, performs poorly in screening for EA. WHAT DOES THIS STUDY ADD?: We present a new "one shot" technique for assessing the fetal esophagus at early pregnancy and evaluate its feasibility. Furthermore, we were able to consistently apply this technique in a prospective cohort. The major clinical implication of this work is to present a promising early screening method for EA. This article is protected by copyright. All rights reserved.

Objectives: To assess if measurement of the head progression distance (PD) during the first stage of labor in nulliparous women can predict the delivery method.Methods: A prospective study was cond...

Objective Fetal isolated ventricular asymmetry (IVA) is a relatively common finding in pregnancy, but data regarding its effect on neurodevelopmental outcome are scarce and founded principally on ultrasound-based studies. The purpose of this study was to assess the neurodevelopmental outcome of IVA cases in a magnetic resonance imaging (MRI)-based study. Methods Cases referred for fetal brain MRI as part of the assessment of IVA without ventriculomegaly (lateral ventricular atrial diameter ≤ 10 mm), identified during routine ultrasound examination, were assessed for possible inclusion. Asymmetry was defined as a difference in width of ≥ 2 mm between the two lateral ventricles. Forty-three cases were included in the study group and compared with a control group of 94 normal cases without IVA. Children were assessed at ages 13-74 months using the Vineland-II Adaptive Behavior Scales (VABS-II). Results VABS-II scores were within normal range. There was no significant difference in composite VABS-II score between the study and control groups (106.5 vs 108.0; P = 0.454). VABS-II scores did not differ between the groups when matched for gender and age at VABS-II interview (109.6 in study group vs 107.8 in control group; P = 0.690). Conclusion In cases of IVA without ventriculomegaly on MRI, neurodevelopmental test scores were normal and did not differ from cases without IVA. Copyright © 2018 ISUOG. Published by John Wiley & Sons Ltd.

To describe the prenatal presentation, including ultrasonographic, histologic, and molecular findings, in 2 fetuses affected with LMOD3-related nemaline myopathy. Prenatal ultrasonographic examinations and histopathologic studies were performed on 2 fetuses with evidence of nemaline myopathy. To establish a molecular diagnosis, whole-exome sequencing was pursued for the affected fetuses. Nemaline myopathy is a common form of congenital myopathy manifesting with nonprogressive generalized muscle weakness, hypotonia, and electron-dense protein inclusions in skeletal myofibers. Although clinically, nemaline myopathy can be viewed as a common pathway phenotype, its molecular basis is heterogeneous, with mutations in 11 identified genes implicated in its pathogenesis so far. Whole-exome sequencing revealed that the affected fetuses were compound heterozygous for 2 newly reported pathogenic variants in the LMOD3 gene, which encodes leiomodin 3. To our knowledge, this article is the first report of LMOD3-related nemaline myopathy since the original reported cohort. We provide a detailed description of the prenatal imaging of these affected fetuses, which we hope, in combination with next-generation sequencing, may contribute to further diagnosis in additional families.

The purpose of this study is to describe the morphological characteristics of fetal MRIs and outcome of prenatally-detected abnormal width of the CSP (cavum septum pellucidum).A retrospective study of cases with abnormal width of the CSP demonstrated prenatally on MRI. Data collected included: prenatal history, MRI features, sonographic follow up, and neurodevelopmental outcome.Most of the cases referred (34/39) had an abnormal CSP on MRI. Thirty cases had an abnormal width: 23 had narrow CSP and seven had wide CSP. Only three out of 12 cases that were referred with US diagnosis of absent CSP were confirmed by MRI, the rest had narrow CSP. Follow up was performed in 24 out of 30 cases with an abnormal CSP width; all had normal neurodevelopment.To the best of our knowledge, this is the first study to examine the outcome in narrow and wide CSPs detected prenatally. An abnormal width of the CSP prenatally, without an associated fetal abnormality such as aneuploidy, appears to have normal outcome. MRI should be offered when an absence of the CSP is suspected on US to rule out narrow CSP, which seems to be a benign finding.

The objective of this study is to determine the clinical significance of maternal and fetal ultrasound Doppler flow indices in postdates pregnancies.This prospective study comprised 120 low-risk pregnant women beyond 40 weeks of gestation. All participants underwent Doppler assessment including of fetal middle cerebral artery (MCA), umbilical, and uterine arteries. Perinatal outcomes were recorded and evaluated for possible associations with Doppler flow values. Adverse perinatal outcomes were defined as umbilical cord arterial pH7.1, Apgar score7 at 5 min, neonatal admission to a neonatal intensive care unit, and emergency cesarean section due to abnormal intrapartum cardiotocogram Results: Adverse perinatal outcome rate was 17.5% (n = 21). Doppler indices of umbilical artery, MCA, uterine artery and the cerebroplacental ratio (CPR) did not differ significantly between pregnant women with and without adverse perinatal outcomes. Neonatal birth weight was found to correlate negatively with umbilical artery Doppler indices, including the peak systolic to end diastolic ratio (p = .04), the resistance index (p = .02), and the pulsatility index (p = .01). Doppler values of the uterine artery, MCA and CPR did not correlate with neonatal birth weight.The contribution of maternal and fetal ultrasound Doppler to the prediction of adverse perinatal outcomes in low-risk postdates pregnancies is low. Hence, performing routine Doppler examination as part of postdates pregnancy assessments is unlikely to yield significant clinical benefit.

To investigate the correlation between the angle of progression and the clinical fetal head station (FHS) during the second stage of labor, and to build reference range.A prospective, observational study was conducted. Women carrying singleton term pregnancies were enrolled during the second stage of labor. FHS was assessed manually by a senior obstetrician, while the angle of progression (AOP) was assessed by transperineal ultrasound (TPU). Both examiners were blinded to each others results. The correlation between the sonographic AOP and the clinical FHS was analyzed.Seventy patients comprised the study group. Clinical FHS demonstrated an excellent correlation with the sonographic measurement of AOP (Pearson's Correlation 0.642, p 0.001). This correlation was best described by a cubic regression according to the formula: 123.800 + 10.290 × FHS -2.889 * FHS +0.910, (rOur results demonstrate a significant correlation between the clinical FHS and the TPU measured AOP. These standardized sonographic values may serve the obstetrician as a reliable, objective auxiliary tool for the evaluation of the FHS during the second stage of labor.

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: 7 chorioangiomas and 4 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.

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 (

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.

Purpose To describe in utero and postnatal imaging and clinical characteristics of primary fetal lung hypoplasia (PFLH). Methods A retrospective review of fetuses and neonates diagnosed in one academic tertiary center during an eleven-year period. Results 12 cases of PFLH were identified. 4 were bilateral and 8 had unilateral involvement. Prenatal sonographic characteristics, postnatal magnetic resonance imaging (MRI), computerized tomographic angiography (CTA), and histologic findings are described. 3 of the 4 bilateral cases were evaluated during fetal live. 2 were terminated and 2 died shortly after delivery. Among the 8 cases with unilateral PFLH, 7 involved the right lung and 1 the left lung. In fetuses with right hypoplasia, 5 showed characteristic features of Scimitar syndrome, while associated gastrointestinal tract (GIT) anomalies were presented in 2 cases. In this group 3 were born alive and the other 5 were terminated. Conclusion Primary PFLH is a rare anomaly that lethal in its bilateral form and with variable prognosis in its unilateral variant. Targeted evaluation of lung vascularity and exclusion of associated anomalies, especially of the GIT, are important prognostic factors.

No study thus far has evaluated the LUS thickness in active labor. In this study, we endeavored to assess the LUS during active labor.Using transabdominal sonography in the mid-sagittal position with a full urinary bladder, the thickness of the LUS was measured during active labor phase in women with or without a history of a previous cesarean section.A total of 28 women with a previous cesarean delivery were compared to 29 women without a history of uterine surgery. The median LUS was significantly thinner in women with a uterine scar both during (4 versus 5 mm, p = .001) and between contractions (5 versus 7 mm, p = .011). Paired comparison of LUS thickness between and during contractions within each group showed that thinning of LUS during contraction was significant for both the previous CS group (p .001) and the control group (p .001). We found no correlation between LUS thickness and chances of successful TOLAC.In this study, we characterized for the first time the LUS during active labor. We found that LUS was significantly thinner in women after a previous CS and that the LUS was significantly thinner during contraction.

The aim of our study was to assess the agreement between pre- and post-natal measurements in prenatal isolated ventriculomegaly.Ninety-two women were referred for lateral ventricular abnormality and followed prospectively. Cases with at least one dilated lateral ventricle ≥10 mm and a normal work up (serological tests, detailed anatomical scan, fetal brain MR imaging, genetic counseling, and amniocentesis) were considered idiopathic ventriculomegaly and comprised the study group for post-natal follow up. Prenatal measurements were performed by ultrasound and MR imaging. Post-natal measurements were performed by cranial sonography at age of 1-3 months. Measurements were performed in the customary plane for each modality. Paired Student's t test was used to assess the mean difference between pre- and postnatal measurements.Forty three cases comprised the study group for post-natal measurements. A statistically significant decrease in ventricular width (p .001) was observed between pre- and post-natal measurements. On clinical follow up for 24 months, all cases were normal except three who demonstrated very mild neurological deficits.Our study indicates statistically significant regression of prenatal isolated ventriculomegaly in the post-natal period.

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[2] = 0.744; P

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.

The purpose of this study was to describe fetal brain anomalies identified during nuchal translucency (NT) examination and their clinical management.In this retrospective study, we evaluated charts of pregnant women performed the first trimester scan (FTS) between 1.1.2011 and 31.12.14 in a tertiary referral center. Study population consisted of 952 patients scheduled for routine NT scan for aneuploidy screening between 11.0 and 13.6 gestational weeks, and 32 referred patients due to suspicious CNS finding during previous NT scan. Targeted brain assessment was performed according to clinical judgment during routine scans and in all referred cases. Patients with suspicious CNS findings were referred to pregnancy termination or further evaluation including genetic consultation and second trimester anatomical scan.Thirty-one fetuses were diagnosed with variable brain anomalies. Acrania/anencephaly was the most common defect (nine cases) while the rarest findings were inter-hemispheric cyst, microcephaly, and Walker-Warburg Syndrome (one case each). Genetic testing revealed variable results. Twenty-six (83.9%) couples decided to terminate their pregnancies.The current report highlights the evolving ability to detect CNS malformation during NT scan. FTS novel findings expand our embryological understanding of early fetal development. While severe anomalies can be managed by early termination, other defects necessitate comprehensive evaluation and repetitive imaging.

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.

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.To examine the correlation between CHD and brain injury using fetal brain MRI.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.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.Fetuses with CHD demonstrate findings in brain MRI that suggest an in utero pathogenesis of the neurological and cognitive anomalies found during child development.