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Background: Single umbilical artery (SUA) is strongly associated with foetal structural abnormalities; however, the exact pattern of this association has not been described. We aimed to investigate the occurrence of malformations in singleton pregnancies with SUA in China and to study the association between the absent side of the umbilical artery and foetal malformations. Methods: This was a retrospective study of singleton pregnancies for which routine first-trimester anatomical screening was performed at 11+ 0-13+ 6 gestational weeks and, if the pregnancy continued, a second-trimester scan was performed at 20+ 0-24+ 0 weeks. Data were extracted from records at the referral centre, the Obstetrics and Gynecology Hospital of Fudan University, between January 2011 and April 2019 (n = 47,894). Using logistic regression, the odds ratios (OR) with 95% confidence intervals (CIs) were calculated for malformations associated with SUA. Results: The incidence of SUA in our study was 2.0% (970/47,894). Of all foetuses with SUA, 387 (39.9%) had structural malformations. The malformation type varied, with cardiovascular complications being the most common. A robust association was observed between SUA and oesophageal stenosis or atresia (OR: 25.33), followed by cardiovascular (OR: 9.98–24.02), scoliosis (OR: 18.62), genitourinary (OR: 2.45–15.66), and brain malformations (OR: 4.73–9.12). The absence of the left umbilical artery (n = 445, 45.9%) was consistent with that of the right umbilical artery (n = 431, 44.4%). Furthermore, a significantly higher rate of an absent right than the left umbilical artery (p<0.01) was observed in SUA with foetal abnormalities than in SUA with no malformations. Conclusions: Overall, we observed a higher risk of various specific malformations in foetuses with SUA, and a strong association between SUA and oesophageal stenosis or atresia. The absence of the right umbilical artery was most common in foetuses with SUA and structural malformations. This study provides a reference for ultrasonographers in conducting foetal structural screening for pregnant women with SUA. [ABSTRACT FROM AUTHOR]

Objective: Prenatal diagnosis of a rare disease on ultrasound relies on a physician's ability to remember an intractable amount of knowledge. We developed a real‐time decision support system (DSS) that suggests, at each step of the examination, the next phenotypic feature to assess, optimizing the diagnostic pathway to the smallest number of possible diagnoses. The objective of this study was to evaluate the performance of this real‐time DSS using clinical data. Methods: This validation study was conducted on a database of 549 perinatal phenotypes collected from two referral centers (one in France and one in the UK). Inclusion criteria were: at least one anomaly was visible on fetal ultrasound after 11 weeks' gestation; the anomaly was confirmed postnatally; an associated rare disease was confirmed or ruled out based on postnatal/postmortem investigation, including physical examination, genetic testing and imaging; and, when confirmed, the syndrome was known by the DSS software. The cases were assessed retrospectively by the software, using either the full phenotype as a single input, or a stepwise input of phenotypic features, as prompted by the software, mimicking its use in a real‐life clinical setting. Adjudication of discordant cases, in which there was disagreement between the DSS output and the postnatally confirmed ('ascertained') diagnosis, was performed by a panel of external experts. The proportion of ascertained diagnoses within the software's top‐10 differential diagnoses output was evaluated, as well as the sensitivity and specificity of the software to select correctly as its best guess a syndromic or isolated condition. Results: The dataset covered 110/408 (27%) diagnoses within the software's database, yielding a cumulative prevalence of 83%. For syndromic cases, the ascertained diagnosis was within the top‐10 list in 93% and 83% of cases using the full‐phenotype and stepwise input, respectively, after adjudication. The full‐phenotype and stepwise approaches were associated, respectively, with a specificity of 94% and 96% and a sensitivity of 99% and 84%. The stepwise approach required an average of 13 queries to reach the final set of diagnoses. Conclusions: The DSS showed high performance when applied to real‐world data. This validation study suggests that such software can improve perinatal care, efficiently providing complex and otherwise overlooked knowledge to care‐providers involved in ultrasound‐based prenatal diagnosis. © 2023 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology. [ABSTRACT FROM AUTHOR]

Background & Objective Sacrococcygeal teratoma is the most common Congenital neonatal tumour. Sacrococcygeal teratoma (SCT) can be detected by ultrasound in early foetal life. Currently, prenatal ultrasonography enables examination of tumours, but it does not always provide all the needed data. The purpose of this study was to highlight the most important features of SCTs detected by foetal MRI adding to ultrasound information. Case series Between 2015 and 2020, Four cases of sacrococcygeal teratomas were either diagnosed in our hospital or referred to our hospital for foetal magnetic resonance imaging. Antenatal ultrasound screening was done at our hospital preceding foetal MRI examination. As surgery is the mainstay for management of SCT, the required data before surgery include tumour dimensions, content, mass effect, and type of sacrococcygeal teratoma according to The American Academy of Paediatrics' surgical section (APPSS). Foetal magnetic resonance imaging (MRI) was ideal for tumour classification using the aforementioned criteria. MRI better characterizes tumour content, its extent and relation to surrounding structures compared to ultrasound and enables a precise structural assessment of the central nervous system. Conclusions Foetal MRI is very informative in the prenatal diagnosis of SCTs as it overcomes the limitations of obstetric ultrasound providing additional data. [ABSTRACT FROM AUTHOR]

This article explores the use of prenatal ultrasound in diagnosing biliary atresia (BA) and analyzing its prognostic implications. The study included 45,020 cases, with 359 cases suspected to have biliary abnormalities. Postpartum diagnosis confirmed BA in 14 cases, with significant differences observed in cyst size, shape, cystic changes, and gallbladder morphology between BA and biliary dilatation groups. The prognosis for biliary atresia splenic malformation syndrome was generally unfavorable, while those undergoing surgery had favorable outcomes. The study provides valuable information for clinical decision-making regarding BA. [Extracted from the article]

Objective: To evaluate the performance of third-trimester ultrasound for the diagnosis of clinically significant placenta accreta spectrum disorder (PAS) in women with low-lying placenta or placenta previa.Methods: This was a prospective multicenter study of pregnant women aged ≥ 18 years who were diagnosed with low-lying placenta (< 20 mm from the internal cervical os) or placenta previa (covering the internal cervical os) on ultrasound at ≥ 26 + 0 weeks' gestation, between October 2014 and January 2019. Ultrasound suspicion of PAS was raised in the presence of at least one of these signs on grayscale ultrasound: (1) obliteration of the hypoechogenic space between the uterus and the placenta; (2) interruption of the hyperechogenic interface between the uterine serosa and the bladder wall; (3) abnormal placental lacunae. Histopathological examinations were performed according to a predefined protocol, with pathologists blinded to the ultrasound findings. To assess the ability of ultrasound to detect clinically significant PAS, a composite outcome comprising the need for active management at delivery and histopathological confirmation of PAS was considered the reference standard. PAS was considered to be clinically significant if, in addition to histological confirmation, at least one of these procedures was carried out after delivery: use of hemostatic intrauterine balloon, compressive uterine suture, peripartum hysterectomy, uterine/hypogastric artery ligation or uterine artery embolization. The diagnostic performance of each ultrasound sign for clinically significant PAS was evaluated in all women and in the subgroup who had at least one previous Cesarean section and anterior placenta. Post-test probability was assessed using Fagan nomograms.Results: A total of 568 women underwent transabdominal and transvaginal ultrasound examinations during the study period. Of these, 95 delivered in local hospitals, and placental pathology according to the study protocol was therefore not available. Among the 473 women for whom placental pathology was available, clinically significant PAS was diagnosed in 99 (21%), comprising 36 cases of placenta accreta, 19 of placenta increta and 44 of placenta percreta. The median gestational age at the time of ultrasound assessment was 31.4 (interquartile range, 28.6-34.4) weeks. A normal hypoechogenic space between the uterus and the placenta reduced the post-test probability of clinically significant PAS from 21% to 5% in women with low-lying placenta or placenta previa in the third trimester of pregnancy and from 62% to 9% in the subgroup with previous Cesarean section and anterior placenta. The absence of placental lacunae reduced the post-test probability of clinically significant PAS from 21% to 9% in women with low-lying placenta or placenta previa in the third trimester of pregnancy and from 62% to 36% in the subgroup with previous Cesarean section and anterior placenta. When abnormal placental lacunae were seen on ultrasound, the post-test probability of clinically significant PAS increased from 21% to 59% in the whole cohort and from 62% to 78% in the subgroup with previous Cesarean section and anterior placenta. An interrupted hyperechogenic interface between the uterine serosa and bladder wall increased the post-test probability for clinically significant PAS from 21% to 85% in women with low-lying placenta or placenta previa and from 62% to 88% in the subgroup with previous Cesarean section and anterior placenta. When all three sonographic markers were present, the post-test probability for clinically significant PAS increased from 21% to 89% in the whole cohort and from 62% to 92% in the subgroup with previous Cesarean section and anterior placenta.Conclusions: Grayscale ultrasound has good diagnostic performance to identify pregnancies at low risk of PAS in a high-risk population of women with low-lying placenta or placenta previa. Ultrasound may be safely used to guide management decisions and concentrate resources on patients with higher risk of clinically significant PAS. © 2022 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology. [ABSTRACT FROM AUTHOR]

Objective: To assess the feasibility and accuracy of 3D printing with prenatal three‐dimensional ultrasound (3DUS) in the diagnosis of fetal abnormalities. Methods: Fetuses initially diagnosed with various abnormalities were included in this retrospective study. The fetuses were examined by 3DUS, modeled, and 3D printed, and the dimensional accuracy of the 3D prints was analyzed. The effectiveness, demand, necessity of 3D printing, and the diagnostic accuracy of different methods were analyzed based on questionnaire responses from 40 senior ultrasound doctors and 40 postgraduate students. Results: A total of 12 fetuses with cleft lip and palate, spinal, heart, or brain abnormalities were included for detailed assessment. All deviations (mean deviation: 0.1 mm) between the original images and the final 3D prints lay within the consistency boundary (−1.12, 1.31 mm) (P >.05). In the subsequent analyses, 90.8% of the doctors and 94.2% of the students strongly agreed that 3D printing could precisely represent and depict fetal abnormalities. The average misdiagnosis rate of the doctors decreased from 5% to 0.4% after the application of 3D printing combined with 3DUS in comparison with 3DUS alone, and the corresponding value for the students dropped from 17.9% to 5.2%. Conclusions: The errors in modeling and 3D printing based on 3DUS were within acceptable limits, and 3D printing improved the diagnosis of various fetal abnormalities. [ABSTRACT FROM AUTHOR]

Fetal ventriculomegaly (VM) refers to the abnormal enlargement of one or more ventricles of the brain in-utero. The enlargement may or may not be related to ventricular obstruction and increased intracranial pressure; therefore, the term "hydrocephalus" is not used. VM is diagnosed usually in the mid-trimester when the atrial diameter (AD) of the lateral ventricle is more than 10 mm on one or both sides. A thorough workup is then required to identify the cause as the etiology is diverse. Fetal magnetic resonance imaging (MRI) may yield additional information. Serial ultrasound follow-up would be required to assess its progression with advancing gestation. The prognosis and long-term outcomes greatly depend upon the etiology, the severity at diagnosis, progression, and associations. This article reviews the definitions, diagnosis, and workup of fetal VM, discusses follow-up protocols and prognosis, and examines the role of fetal therapy, including fetoscopic surgery in its prenatal management. [ABSTRACT FROM AUTHOR]

Background: Recto-urethral prostatic fistula (RUPF) is a rare form of anorectal malformation (ARM). Its prenatal diagnosis and management with a minimum consequence are challenging. This study aimed to present diagnostic and therapeutic modalities in a patient with RUPF. Case report: A 32-year-old pregnant woman with no relevant medical or surgical history at 27 weeks of gestation was referred to our department of pediatric surgery. Prenatal ultrasound showed loop dilatations and enterolithiasis. Fetal magnetic resonance imaging (MRI) imaging confirmed the diagnosis of ARM and suggested the presence of a recto-urinary fistula. There was no other associated malformation. Parents decided on the continuation of pregnancy after counseling. A 2300 g male was born at 37 weeks of gestation in February 2019. Colostomy followed by laparoscopic pull-through were performed. Expectations of the physician and parents were met after a one-year follow-up period. Conclusion: Fetal MRI had the potential to diagnose ARM more accurately than ultrasound. Moreover, laparoscopic pull-through was safe and feasible. [ABSTRACT FROM AUTHOR]

Objective: To report the outcome of fetuses with congenital cytomegalovirus (CMV) infection and normal ultrasound at the time of diagnosis, and to evaluate the rate of an additional anomaly detected only on magnetic resonance imaging (MRI).Methods: Medline, EMBASE, CINAHL and Cochrane databases were searched for studies reporting on the outcome of fetuses with congenital CMV infection. Inclusion criteria were fetuses with confirmed CMV infection and normal ultrasound assessment at the time of the initial evaluation. The outcomes observed were an anomaly detected on a follow-up ultrasound scan, an anomaly detected on prenatal MRI but missed on ultrasound, an anomaly detected on postnatal assessment but missed prenatally, perinatal mortality, symptomatic infection at birth, neurodevelopmental outcome and hearing and visual deficits. Neurodevelopmental outcome was assessed only in cases of isolated CMV infection confirmed at birth. Subgroup analysis was performed according to the trimester in which maternal infection occurred. Random-effects meta-analysis of proportions was used to analyze the data.Results: Twenty-six studies were included, comprising 2603 fetuses with congenital CMV infection, of which 1178 (45.3%) had normal ultrasound at the time of diagnosis and were included in the analysis. The overall rate of an associated central nervous system (CNS) anomaly detected on a follow-up ultrasound scan was 4.4% (95% CI, 1.4-8.8%) (32/523; 15 studies), while the rates of those detected exclusively on prenatal MRI or on postnatal imaging were 5.8% (95% CI, 1.9-11.5%) (19/357; 11 studies) and 3.2% (95% CI, 0.3-9.0%) (50/660; 17 studies), respectively. The rate of an associated extra-CNS anomaly detected on a follow-up ultrasound scan was 2.9% (95% CI, 0.8-6.3%) (19/523; 15 studies), while the rates of those detected exclusively on MRI or on postnatal imaging were 0% (95% CI, 0.0-1.7%) (0/357; 11 studies) and 0.9% (95% CI, 0.3-1.8%) (4/660; 17 studies), respectively. Intrauterine death and perinatal death each occurred in 0.7% (95% CI, 0.3-1.4%) (2/824; 23 studies) of cases. In cases without an associated anomaly detected pre- or postnatally, symptomatic infection was found in 1.5% (95% CI, 0.7-2.7%) (6/548; 19 studies) of infants, the overall rate of a neurodevelopmental anomaly was 3.1% (95% CI, 1.6-5.1%) (16/550; 19 studies), and hearing problems affected 6.5% (95% CI, 3.8-10.0%) (36/550; 19 studies) of children. Subanalyses according to the trimester in which maternal infection occurred were affected by the very small number of included cases and lack of comparison of the observed outcomes in the original studies. Compared with fetuses infected in the second or third trimester, those infected in the first trimester had a relatively higher risk of having an additional anomaly detected on follow-up ultrasound or MRI, abnormal neurodevelopmental outcome and hearing problems.Conclusions: In fetuses with congenital CMV infection in which no anomalies are detected on prenatal ultrasound or MRI, the risk of adverse postnatal outcome is lower than that reported previously in the published literature when not considering the role of antenatal imaging assessment. The results from this review also highlight the potential role of MRI, even in fetuses with no anomalies detected on ultrasound, as an anomaly can be detected exclusively on MRI in about 6% of cases. The findings from this study could enhance prenatal counseling of pregnancies with congenital CMV infection with normal prenatal imaging. © 2020 International Society of Ultrasound in Obstetrics and Gynecology. [ABSTRACT FROM AUTHOR]

Background: Congenital pyloric atresia (CPA) is a rare gastrointestinal anomaly frequently associated with epidermolysis bullosa (EB). Although the complications of familial isolated CPA are minor, delays in diagnosis can increase the chances of morbidity. Case presentation: Three female infants born to a Japanese mother presented with CPA at birth. There was no consanguinity between the parents, and the spacing between pregnancies was 2 years in each case. All 3 siblings had a prenatal diagnosis of CPA owing to polyhydramnios and a dilated stomach, without dilatation of the rest of the gastrointestinal tract. All patients underwent reconstructive surgeries for establishing bowel continuity (Case 1, pyloromyotomy; Case 2, gastroduodenostomy in a diamond fashion; and Case 3, gastroduodenostomy in a side-to-side fashion) soon after birth. Their postoperative courses were uneventful, and they grew up healthily, without any complications. Conclusion: Fetal ultrasonography is useful for diagnosing CPA prenatally. Successful prenatal diagnosis can lead to timely intervention after birth. [ABSTRACT FROM AUTHOR]

Objective: To evaluate the clinical application of medical exome sequencing (MES) for prenatal diagnosis of genetic diseases related to fetal structural anomalies detected by prenatal ultrasound examination.Study Design: A total of 105 fetuses with structural anomalies were negative results in both Quantitative fluorescent polymerase chain reaction (QF-PCR) and chromosomal microarray analysis (CMA). Then trio-based MES was further used for identifying the potential monogenic diseases in these fetuses. Coding regions and known pathogenic non-coding regions of over 4000 disease-related genes were interrogated, and variants were classified following the guidelines of American College of Medical Genetics (ACMG).Results: The 105 fetuses with structural anomalies were categorized into 12 phenotypic groups. A definitive diagnosis was achieved in 19% (20/105) of the cases, with the identification of 21 pathogenic or likely pathogenic variants in 14 genes. The proportion of patients with diagnostic genetic variants varied between the phenotypic groups, with the highest diagnostic yield in the cardiovascular abnormalities (44%), followed by the skeletal and limb abnormalities (38%) and brain structural abnormalities (25%). In addition, 12 fetuses were detected variants of unknown significance (VOUS), while the relevance of phenotypes and variants would further evaluated.Conclusion: MES can identify the underlying genetic cause in fetal structural anomalies. It can further assist the management of pregnancy and genetic counseling. It was demonstrated the importance of translating prenatal MES into clinical practice. [ABSTRACT FROM AUTHOR]

Introduction: Applying whole-exome sequencing (WES) for the diagnosis of diseases in children has shown significant diagnostic strength compared with chromosomal microarray. WES may also have the potential of adding clinically relevant prenatal information in cases where a fetus is found to have structural anomalies. We present results from the first fetal exomes performed in a tertiary center in Denmark.Material and Methods: Couples/expectant parents were included in Central Denmark Region from July 2016 to March 2019. Inclusion was not systematic, but where one or more fetal malformations or severe fetal hydrops were detected, and a specific diagnosis had not been obtained by chromosomal microarray. WES was performed in ongoing pregnancies (N = 11), after intrauterine demise (N = 5), or after termination of pregnancy based on ultrasound findings (N = 19). In most cases, a trio format was applied comprising fetal and parental DNA.Results: WES was performed in 35 highly selected fetal cases. Pathogenic variants, or variants likely to explain the phenotype, were detected in 9/35 (26%). Variants of uncertain significance were detected in 7/35 (20%) and there was one secondary finding (3%). Out of the 11 ongoing pregnancies, four reached a genetic diagnosis (36%). Detection rate was highest in cases of multisystem anomalies (7/13, 54%). WES was completed in all three trimesters and both autosomal dominant, autosomal recessive and X-linked inheritance were revealed.Conclusions: We present data from 35 cases of exome sequencing applied in a setting of fetal malformations. Importantly, though, we wish to share our personal experiences with implementing WES into a prenatal setting. As a medical society, we must continue to share what we do not understand, what went wrong, what is difficult, and what we do not agree upon. A common understanding and language are warranted. We also advocate that more research is needed concerning the clinical value, as well as costs and patient perspectives, of using WES in pregnancy. We believe that WES will lead to improved prenatal and perinatal care. [ABSTRACT FROM AUTHOR]

ADNP syndrome, also known as the Helsmoortel-Van der Aa syndrome (HVDAS), is a neurodevelopmental disorder characterized by hypotonia, developmental delay, and intellectual disability. Diagnosis is typically made postnatally, and little is known about prenatal presentation of the disorder. We report a child who presented with intrauterine growth restriction, proportionate microcephaly, and an abnormal skull shape on fetal ultrasound. Whole exome sequencing performed on amniotic fluid cells showed a de novo pathogenic variant in the ADNP gene, corresponding to a diagnosis of ADNP syndrome. [ABSTRACT FROM AUTHOR]

Fetal hematometrocolpos is a rare finding with an incidence of 1 in 16 000 female births. We present a case of fetal hematometrocolpos managed exclusively by prenatal and postnatal ultrasound scans allowing for effective immediate postnatal surgical treatment. [ABSTRACT FROM AUTHOR]

Objective: To individually analyze echocardiographic features in fetuses with ductal‐dependent congenital heart diseases (DDCHD) and to verify the anatomical characteristics corresponding to the echocardiogram scan views. Background: Ductal‐dependent congenital heart diseases depends on the ductus arteriosus (DA) remaining open to maintain suitable pulmonary or systemic circulation after birth. An accurate diagnosis using prenatal echocardiography has important clinical significance in evaluating disease prognosis and ensuring timely treatment. Methods: Fetuses were followed in the prenatal and postpartum periods via echocardiography. The results of postpartum echocardiography or autopsy specimens were compared with the prenatal echocardiography findings. Results: One hundred and eight fetuses displayed various types of DDCHD including 66 fetuses with ductal‐dependent pulmonary circulation, and 42 fetuses with ductal‐dependent systemic circulation. Prenatal echocardiography revealed the typical characteristics of no forward flow signal from right ventricular outflow tract to the pulmonary trunk proximally and a reverse flow in the DA in most fetuses for ductal‐dependent pulmonary circulation, a reverse flow in the transverse aortic arch for aorta atresia, and a loss of continuity between aortic arch and descending aorta for interruption of the aortic arch (IAA). All 108 fetuses displayed various types of complex CHD, including right ventricular dysplasia with pulmonary atresia (PA), severe Ebstein anomaly, double outlet right ventricle with PA, tetralogy of fallot with PA, single ventricle with PA or aorta atresia, hypoplastic left heart syndrome, and IAA. Conclusions: The identification of reverse flow in the aortic arch or DA aids in the subsequent accurate diagnosis of DDCHD associated with complex malformation of the heart. [ABSTRACT FROM AUTHOR]

Introduction: Heterotaxy syndrome/ isomerism is characterized by an abnormal symmetry of the viscera that are normally dissimilar due to abnormal lateralization of thoracic and abdominal viscera and is frequently associated with complex cardiac anomalies. Isomerism may be of right or left. Materials and methods: This article describes the morphological characteristics of heterotaxy and suggests an approach in evaluating the spectrum of abnormalities associated with this syndrome. This study is based on 12 cases diagnosed on antenatal ultrasound as heterotaxy syndrome. Results of the examinations were re-evaluated and compared by fetal autopsy. Result: Based on the following echocardiographic criteria, a diagnosis of left isomerism was made if there was viscerocardiac heterotaxy associated with an interruption of inferior vena cava or with bilateral finger-like atrial appendages or if it was associated with heart block. If there was evidence of viscerocardiac heterotaxy with complex cardiac anomalies then it was diagnosed as right atrial isomerism or visceral heterotaxy syndrome. We diagnosed 6/12 as left isomerism and rest of the cases as right isomerism/visceral heterotaxy syndrome. In Autopsy we evaluated visceral situs and morphology of the lungs and the main bronchi, the state of the liver, spleen, bowel, and the precise anatomy of the heart and confirmed 4/12 as left isomerism 4/12 as right isomerism and two cases as visceral heterotaxy syndrome (VHS). Rest of the two cases were included in the study despite missing autopsy data, as the combination of abnormal situs with interrupted inferior vena cava, and cardiac malformation allowed a diagnosis of left isomerism with high probability. Conclusion: In this study, we aimed to find common features of heterotaxy syndrome on prenatal ultrasound as well as on fetal autopsy. This syndrome should be accurately diagnosed in the prenatal period in order to allow appropriate counseling of parents. [ABSTRACT FROM AUTHOR]

Circulating cell‐free DNA, having no procedural risk of miscarriage, is the most suitable sample for a noninvasive prenatal testing (NIPT). Here we report on a boy, who came to our attention for hypotonia and psychomotor delay when he was 16 months old. During the pregnancy his mother performed a NIPT that resulted compatible with the presence of trisomy 18. A confirmatory invasive procedure has been proposed, but not performed, because the family preferred to follow a conservative line. A series of ultrasound excluded the presence of any major malformations. Genetic tests, performed after birth, revealed the presence of a tetrasomy 18p with an extra isochromosome 18p. Our report wants to underline the importance of an invasive procedure and consequent cytogenetic analysis in case of NIPT results indicating autosomal trisomies because under it may hide the presence of other structural chromosomal anomalies. These conditions are normally not visible at prenatal ultrasound or using combined test (CT) and the only identifiable not invasive sign could be the results of high risk at NIPT. [ABSTRACT FROM AUTHOR]

The MERIDIAN study examined whether in‐utero MRI (iuMRI) improves the accuracy of diagnosis of foetal brain abnormalities, when used as an adjunct to ultrasound anomaly scanning. A diagnostic iuMRI differs from routine ultrasound screening because of its infrequent use and scanning procedure. Nested within this trial, this sociological study explored the acceptability of iuMRI as a technology and its contribution to parental decision‐making. Our sociological interpretation of the role of iuMR images in prenatal diagnosis draws on narrative interviews with women (and some partners) who underwent MRI imaging at three different centres. Overall, participants found iuMRI helpful in decision‐making because it either confirmed or disconfirmed previous results, or provided additional information. Expectant couples experienced the iuMR imaging process as informative, but also as having emotive and practical value. Our paper extends the existing sociological literature on antenatal testing and visualising the foetus, by using iuMR diagnostic imaging to further explore the concept of the unborn entity. Our data suggest that alongside the iuMR images, the 'parental gaze' and accompanying commentary are used by parents to construct and transform foetal and parental identities despite ongoing uncertainties about, and shifting social contexts to their pregnancy. [ABSTRACT FROM AUTHOR]

Objective: To estimate the diagnostic accuracy of a two-stage strategy for early prediction of morbidly adherent placenta (MAP). In the first stage, at 11-13 weeks' gestation, women with low-lying placenta and history of uterine surgery are classified as being at high risk for MAP and, in the second stage, at 12-16 weeks, these high-risk pregnancies are assessed at a specialist MAP clinic.Methods: This was a prospective study in women having an ultrasound scan at 11-13 weeks' gestation as a part of routine pregnancy care. Women with low-lying placenta and a history of uterine surgery were followed up at a specialist MAP clinic at 12-16 weeks' gestation, 20-24 weeks and 28-34 weeks. At each visit to the MAP clinic, an ultrasound scan was carried out and the following features suggestive of MAP were recorded: non-visible Cesarean section scar; bladder wall interruption; thin retroplacental myometrium; presence of intraplacental lacunar spaces; presence of retroplacental arterial-trophoblastic blood flow; and irregular placental vascularization demonstrated by three-dimensional power Doppler.Results: Screening at 11-13 weeks was carried out in 22 604 singleton pregnancies, 1298 (6%) of which were considered to be at high risk of MAP because they had previous uterine surgery and low-lying placenta. At the MAP clinic at 12-16 weeks, the diagnosis of MAP was suspected in 14 cases and this was confirmed at delivery in 13. In the rest of the population, there were no cases of MAP.Conclusion: Accurate prediction of MAP can be achieved by ultrasound examination at 12-16 weeks' gestation. Copyright © 2018 ISUOG. Published by John Wiley & Sons Ltd. [ABSTRACT FROM AUTHOR]

Objectives: Twin pregnancy complicated by selective fetal growth restriction (sFGR) is associated with increased perinatal mortality and morbidity. Inconsistencies in the diagnostic criteria for sFGR employed in existing studies hinder the ability to compare or combine their findings. It is therefore challenging to establish robust evidence-based management or monitoring pathways for these pregnancies. The main aim of this study was to determine, by expert consensus using a Delphi procedure, the key diagnostic features of and the essential reporting parameters in sFGR.Methods: A Delphi process was conducted among an international panel of experts in sFGR in twin pregnancy. Panel members were provided with a list of literature-based parameters for diagnosing sFGR and were asked to rate their importance on a five-point Likert scale. Parameters were described as solitary (sufficient to diagnose sFGR, even if all other parameters are normal) or contributory (those that require other abnormal parameter(s) to be present for the diagnosis of sFGR). Consensus was sought to determine the cut-off values for accepted parameters, as well as parameters used in the monitoring, management and assessment of outcome of twin pregnancy complicated by sFGR. The questions were presented in two separate categories according to chorionicity.Results: A total of 72 experts were approached, of whom 60 agreed to participate and entered the first round; 48 (80%) completed all four rounds. For the definition of sFGR irrespective of chorionicity, one solitary parameter (estimated fetal weight (EFW) of one twin < 3rd centile) was agreed. For monochorionic twin pregnancy, at least two out of four contributory parameters (EFW of one twin < 10th centile, abdominal circumference of one twin < 10th centile, EFW discordance of ≥ 25%, and umbilical artery pulsatility index of the smaller twin > 95th centile) were agreed. For sFGR in dichorionic twin pregnancy, at least two out of three contributory parameters (EFW of one twin < 10th centile, EFW discordance of ≥ 25%, and umbilical artery pulsatility index of the smaller twin > 95th centile) were agreed.Conclusions: Consensus-based diagnostic features of sFGR in both monochorionic and dichorionic twin pregnancies, as well as cut-off values for the parameters involved, were agreed upon by a panel of experts. Future studies are needed to validate these diagnostic features before they can be used in clinical trials of interventions. Copyright © 2018 ISUOG. Published by John Wiley & Sons Ltd. [ABSTRACT FROM AUTHOR]

Advances in prenatal genomics have enabled the assessment of not only the sub-microscopic structure of chromosomes using chromosomal microarray analysis, but also the detection of "pathogenic variants" to the resolution of a single base pair with the use of next generation sequencing. Research is emerging on the additional prenatal diagnostic yield that exome sequencing offers when structural fetal anomalies are detected on ultrasound examination, in particular the identification of monogenic abnormalities defining prognosis and recurrence of anomalies. Primarily assessed using fetal DNA obtained by invasive techniques (amniocytes or chorionic villi), this technology is progressing into a non-invasive approach using maternal plasma. There are several challenges, to be addressed before this technology can be introduced into routine clinical practice. These are primarily technical and interpretational but also relate to service provision; cost-effectiveness; turn-around time; patient acceptability and ethical dilemmas. With adequate pre- and post-test counselling many of these challenges may be overcome and such counselling has to be multi-disciplinary, involving clinical geneticists, genetic scientists, paediatricians, perinatal pathologists and fetal medicine subspecialists. There is therefore a need for obstetricians to have an understanding of the clinical utility, application, advantages and challenges of such technologies before introduction into routine clinical practice. [ABSTRACT FROM AUTHOR]

Objective: To perform a decision and cost-effectiveness analysis comparing four screening strategies for the antenatal diagnosis of vasa previa in singleton pregnancies.Methods: A decision-analytic model was constructed comparing vasa previa screening strategies. Published probabilities and costs were applied to four transvaginal screening scenarios that were carried out at the time of mid-trimester ultrasound: no screening, ultrasound-indicated screening, screening only pregnancies conceived by in-vitro fertilization (IVF) and universal screening. Ultrasound-indicated screening was defined as performing transvaginal ultrasound at the time of the routine anatomy ultrasound scan in response to one of the following sonographic findings associated with an increased risk of vasa previa: low-lying placenta, marginal or velamentous cord insertion or bilobed or succenturiate lobed placenta. The primary outcome was cost per quality-adjusted life year (QALY) in US$. The analysis was performed from a healthcare system perspective with a willingness-to-pay threshold of $100 000 per QALY selected. One-way and multivariate sensitivity analysis (Monte-Carlo simulation) was performed.Results: This decision-analytic model demonstrated that screening pregnancies conceived by IVF was the most cost-effective strategy, with an incremental cost effectiveness ratio (ICER) of $29186.50/QALY. Ultrasound-indicated screening was the second most cost-effective, with an ICER of $56096.77/QALY. These data were robust to all one-way and multivariate sensitivity analyses performed.Conclusions: Within the baseline assumptions, transvaginal ultrasound screening for vasa previa appears to be most cost-effective when performed among IVF pregnancies. However, both IVF and ultrasound-indicated screening strategies fall within contemporary willingness-to-pay thresholds, suggesting that both strategies may be appropriate to apply in clinical practice. Copyright © 2018 ISUOG. Published by John Wiley & Sons Ltd. [ABSTRACT FROM AUTHOR]

Short rib-polydactyly syndrome (SRPS) is an extremely rare lethal skeletal dysplasia characterized by organ abnormalities, polydactyly, shortened tubular bones and a constricted thoracic cage [Saldino RM. Lethal short-limbed dwarfism: achondrogenesis and thanatophoric dwarfism. Am J Roentgenol. 1971;112:185–97]. In this case, we describe a neonate born with Type I SRPS (Saldino-Noonan type). Prenatal ultrasounds were suspicious for skeletal dysplasia, but prenatal genetic testing was negative. Postnatally, the infant was found to have severely hypoplastic lungs, a large patent ductus arteriosus, hydrops fetalis, polydactyly and a saddle nose. Postnatal DNA sequencing confirmed the diagnosis of SRPS and revealed a compound heterogeneous mutation in a gene involved in primary cilia synthesis. Ultimately, the infant was withdrawn from life support at 7 days due to severe respiratory decompensation from the lung hypoplasia. [ABSTRACT FROM AUTHOR]

Objective: The aim of this study was to make an accurate diagnosis of pyriform sinus fistula (PSF) for prenatal diagnosis.Study Design: Medical records were reviewed for all 35 pyriform sinus fistula patients presenting between 2011 and 2017. Ultrasonography (US), fetal magnetic resonance imaging (MRI) and karyotyping were offered during gestation, while computer tomography (CT) and barium esophagography were performed after birth.Results: Patients included 21 males (60%) and 14 females (40%) with a sex ratio of 1.5:1. The lesion was located on the left side in 32 (91.4%) cases, the right side in 2 (5.7%), and was bilateral (2.8%) in only one case. The sensitivity of CT, MRI, ultrasonography and barium esophagography were 100% (35/35), 69.2% (9/13), 22.9% (8/35), and 80% (20/25), respectively. If the diagnosis was correct, there was almost no recurrence after treatment. Karyotype analysis of all fetuses was normal.Conclusions: Pyriform sinus fistula is more commonly seen in the left side. Compared with ultrasonography, MRI has more advantages in prenatal diagnosis, and it is more accurate in postpartum CT examination. The outcome of children with pyriform sinus fistula may be guarded when it correct diagnosis. [ABSTRACT FROM AUTHOR]

Objective: To evaluate the performance of a simple semi-automated method for estimation of fetal weight (EFW) using magnetic resonance imaging (MRI) as compared with two-dimensional (2D) ultrasound (US) for the prediction of large-for-dates neonates.Methods: Data of two groups of women with singleton pregnancy between March 2011 and May 2016 were retrieved from our database and evaluated retrospectively: the first group included women who underwent US-EFW and MRI-EFW within 48 h before delivery and the second group included women who had these evaluations between 35 + 0 weeks and 37 + 6 weeks of gestation, more than 48 h before delivery. US-EFW was based on Hadlock et al. and MRI-EFW on the formula described by Baker et al. For MRI-EFW, planimetric measurement of the fetal body volume (FBV) was performed using a semi-automated method and the time required for measurement was noted. Outcome measure was the performance of MRI-EFW vs US-EFW in the prediction of large-for-dates neonates, both ≤ 48 h and > 48 h before delivery. Receiver-operating characteristics (ROC) curves for each method were compared using the DeLong method.Results: Of the 270 women included in the first group, 48 (17.8%) newborns had birth weight ≥ 90th centile and 30 (11.1%) ≥ 95th centile. The second group included 83 women, and nine (10.8%) newborns had birth weight ≥ 95th centile. Median time needed for FBV planimetric measurements in all 353 fetuses was 3.5 (range, 1.5-5.5) min. The area under the ROC curve (AUC) for prediction of large-for-dates neonates by prenatal MRI performed within 48 h before delivery was significantly higher than that by US (for birth weight ≥ 90th centile, difference between AUCs = 0.085, standard error (SE) = 0.020, P < 0.001; for birth weight ≥ 95th centile, difference between AUCs = 0.036, SE = 0.014, P = 0.01). Similarly, MRI-EFW was better than US-EFW in predicting birth weight ≥ 95th centile when both examinations were performed > 48 h prior to delivery (difference between AUCs = 0.077, SE = 0.039, P = 0.045).Conclusion: MRI planimetry using our purpose-designed semi-automated method is not time-consuming. The predictive performance of MRI-EFW performed immediately prior to or remote from delivery is significantly better than that of US-EFW for the prediction of large-for-dates neonates. Copyright © 2017 ISUOG. Published by John Wiley & Sons Ltd. [ABSTRACT FROM AUTHOR]

Objective: To evaluate the accuracy of prenatal neurosonography in diagnosing underlying causes of fetal ventriculomegaly, posterior fossa anomalies and microcephaly before 24 weeks' gestational age (GA) and to study the accuracy of prenatal counseling on postnatal prognosis.Methods: A retrospective cohort study based on 146 cases of these fetal brain anomalies before 24 weeks' GA. Counseling on prognosis was compared with postnatal outcome. Data on genetic testing was analyzed.Results: Out of 146 cases, 135 (92%) were diagnosed correctly before 24 weeks' GA. Accuracy was 98% (97/99) in cases with multiple anomalies and 81% (38/47) in cases with an isolated abnormality. Counseling on prognosis was correct in 143 out of 146 cases (98%). Prenatal genetic diagnostics detected an anomaly in 51/113 (45%) of cases. In 14/62 (23%) cases prenatal karyotyping was normal, but postnatal array-CGH detected a pathogenic anomaly.Conclusions: Despite the challenges of early gestation, accuracy in diagnosing and counseling fetal brain anomalies before 24 weeks' GA was high. Prenatal genetic testing is a valuable diagnostic tool and should be offered to all women with fetal brain anomalies. Considering the many different types of anomalies and diverse etiologies, a multidisciplinary approach is essential for counseling on postnatal outcome. [ABSTRACT FROM AUTHOR]

Objective: We examined whether first trimester aneuploidy and pre-eclampsia screening markers predict gestational diabetes mellitus (GDM) in a large multi-ethnic cohort and the influence of local population characteristics on markers.Methods: Clinical and first trimester markers (mean arterial pressure (MAP), uterine artery pulsatility index (UtA PI), pregnancy associated plasma protein A (PAPP-A), free-β human chorionic gonadotropin (free-hCGβ)) were measured in a case-control study of 980 women (248 with GDM, 732 controls) at 11 to 13 + 6 weeks' gestation. Clinical parameters, MAP-, UtA PI-, PAPP-A-, and free-hCGβ-multiples-of-the-median (MoM) were compared between GDM and controls; stratified by ethnicity, parity, and GDM diagnosis <24 versus ≥24 weeks' gestation. GDM model screening performance was evaluated using AUROC.Results: PAPP-A- and UtA PI-MoM were significantly lower in GDM versus controls (median ((IQR) PAPP-A-MoM 0.81 (0.58-1.20) versus 1.00 (0.70-1.46); UtA PI-MoM 1.01 (0.82-1.21) versus 1.05 (0.84-1.29); p < .05). Previous GDM, family history of diabetes, south/east Asian ethnicity, parity, BMI, MAP, UtA PI, and PAPP-A were significant predictors in multivariate analysis (p < .05). The AUC for a model based on clinical parameters was 0.88 (95%CI 0.85-0.92), increasing to 0.90 (95%CI 0.87-0.92) with first trimester markers combined. The combined model best predicted GDM <24 weeks' gestation (AUC 0.96 (95%CI 0.94-0.98)).Conclusions: Addition of aneuploidy and pre-eclampsia markers is cost-effective and enhances early GDM detection, accurately identifying early GDM, a high-risk cohort requiring early detection, and intervention. Ethnicity and parity modified marker association with GDM, suggesting differences in pathophysiology and vascular risk. [ABSTRACT FROM AUTHOR]

Purpose: We present the results of the systematic application of the first trimester combined test for aneuploidies, in a Romanian center.Methods: Since October 2009, in Filantropia Hospital in Bucharest, we have systematically been using the FMF (Fetal Medicine Foundation) combined first trimester test to screen for common aneuploidies at 11 to 13 + 6 weeks of gestation. We assessed the crown to rump length (CRL), nuchal translucency, fetal heart rate as well as PAPP-A, and free β-hCG in maternal serum. We evaluated additional first trimester ultrasound markers in most of the cases. The individual risk for aneuploidies was calculated using the FMF algorithm.Results: Pregnancy outcome is known for 6030 euploid fetuses and 42 aneuploid fetuses from our screening population. The detection rate for trisomy 21 of the combined test was 87.5% for a screen positive rate of 1.96%. All of the trisomy 18 and trisomy 13 cases were detected prenatally. Some of the trisomy 18 cases proved not to be symptomatic in the first trimester.Conclusions: Our results are similar to those of the main studies on the FMF method of first trimester screening for aneuploidies. Our numbers are small because of limited availability of the very specialized resources involved. [ABSTRACT FROM AUTHOR]

Objective: This study aimed to perform an accurate and precise diagnosis for fetuses with suspected skeletal anomalies based on an incomplete and limited ultrasound phenotype.Methods: Proband-only targeted skeletal gene panel sequencing was performed on 12 families who had fetuses with suspected skeletal anomalies based on ultrasound evaluations at a mean gestational age of 24 weeks and 3 days. The fetuses all had normal standard genetic testing yield (karyotyping and microarray).Results: In 10 of 12 fetuses, panel sequencing provided a diagnosis or possible diagnosis with identification of variants in the following genes: FGFR3, COL1A2, IHH, COL2A1, and DYNC2H1. Two cases revealed novel variants in COL2A1 and DYNC2H1.Conclusions: Our study suggests that targeted skeletal gene panel sequencing is highly sensitive for prenatal diagnosis of fetuses presenting with unexpected ultrasound findings suggestive of a skeletal dysplasia. [ABSTRACT FROM AUTHOR]

Ultrasound is routinely used as a prenatal screening and diagnostic tool but has limitations. Some anomalies in the developing fetal brain can be difficult to detect, and in utero magnetic resonance imaging (iuMRI) is increasingly used as an adjunct to ultrasound. However, understandings of patient perspectives of iuMRI technology are still developing. Our qualitative study of 41 mothers who experienced iuMRI was embedded in a diagnostic accuracy trial and aimed to inform policy recommendations that might stem from the clinical findings. Our analysis suggests that iuMRI is seen as useful, offering valuable additional information and helping women make decisions about care options at a difficult time. However, patients’ experiences demonstrated the uncertainty and anxiety associated with the prenatal diagnosis (PND) process relating to brain anomalies including the challenges of their embodied contributions. Our findings suggest more could be done to reduce the impact on pregnant women during an already difficult, anxious period. [ABSTRACT FROM AUTHOR]

Objective: To investigate the pregnancy outcomes in a cohort of women who failed to obtain a result in non-invasive prenatal testing (NIPT).Design: Historical cohort study.Setting: A multicentre private practice in Sydney, Australia.Population: Women who failed to obtain a result from NIPT (n = 131).Methods: The maternal characteristics, antenatal investigations and pregnancy outcomes for these women were compared with those who obtained a result at the same practice and to the general Australian obstetric population.Main Outcome Measures: Antenatal investigations: pregnancy-associated plasma protein-A (PAPP-A), free β-human chorionic gonadotrophin (β-hCG), placental growth factor (PlGF), uterine artery pulsatility index (PI), mean arterial pressure (MAP). Pregnancy outcomes: chromosomal abnormality, pre-eclampsia, gestational diabetes, small-for-gestational-age (SGA), preterm delivery.Results: Only 1.1% of NIPT samples failed to return a result. This cohort was significantly older and had significantly increased weight compared with the general Australian obstetric population. Pregnancy outcomes were available for 94% of the cohort. There were significantly higher rates of chromosomal aneuploidies (6.5% versus 0.2%, P < 0.0001), pre-eclampsia (11% versus 1.5%, P < 0.0001) and gestational diabetes (23% versus 7.5%, P < 0.0001) compared with the general obstetric population. Rates of preterm delivery and SGA were elevated but did not reach significance. Antenatal investigations demonstrated decreased PAPP-A MoM (0.75 versus 1.14, P < 0.0001), decreased free β-hCG (0.71 versus 1.01, P < 0.0001) and increased uterine artery PI (1.79 versus 1.65, P = 0.02).Conclusion: Women who fail to obtain a result from NIPT are at increased risk of adverse pregnancy outcomes, in particular chromosomal aneuploidy, gestational diabetes and pre-eclampsia.Funding: None received.Tweetable Abstract: Women who fail to obtain a result from cell-free DNA NIPT are at increased risk of adverse pregnancy outcomes. [ABSTRACT FROM AUTHOR]

Abstract: Turner syndrome, characterized by the presence of a monosomy X cell line, is a common chromosomal disorder. Patients with Turner syndrome are usually phenotypically female, and male cases are rarely reported. Here, we report a fetus with a mosaic karyotype: mos 45,X/46,X,del(Y)(q11.21). The fetus was initially misdiagnosed as female with Turner syndrome by both noninvasive prenatal testing and cytogenetic analysis of amniotic fluid and was subsequently found to have male anatomy by antenatal ultrasonography at 24 weeks gestational age. Through single nucleotide polymorphism‐array and fluorescence in situ hybridization testing, we found that there was a truncated Y chromosome with sex‐determining region Y (SRY) present in some cells of the fetus, which caused the male features in the fetus. [ABSTRACT FROM AUTHOR]

Objective: To assess the longitudinal behavior of Quantitative Lung Index (QLI) for the follow-up of fetuses with congenital diaphragmatic hernia.Study Design: Retrospective study of fetuses with isolated left congenital diaphragmatic hernia. The fetuses were assessed by ultrasound at different gestational ages and QLI was retrospectively calculated by means of previous lung-to-head ratio measurements. We used a random effects model (mixed model with repeated measurements) to compare the performance of the QLI in operated and non-operated fetuses throughout pregnancy.Results: Fifty-eight cases of isolated left diaphragmatic hernia with complete follow-up were assessed in Hospital Universitari Vall d'Hebron in Barcelona (2003-2015). Thirty-eight of them were managed expectantly (non-TO) and the other 20 underwent tracheal occlusion (TO). All fetuses undergoing tracheal occlusion had lung-to-head ratio (LHR) <1, observed-to-expected LHR (o/eLHR) ≤45%, QLI <0.6 and liver up inside the thorax. The survival rate was 87% for the non-TO group and 60% for the TO group (p = 0.02). The QLI remained constant throughout pregnancy in both groups. The QLI in the TO group had lower values than the non-TO group (p < 0.03).Conclusion: The quantitative lung index was constant during pregnancy. This index was lower in fetuses undergoing tracheal occlusion but no significant changes were seen in its performance during pregnancy. [ABSTRACT FROM AUTHOR]

Objective. To diagnose and explore the genetic cause of Joubert syndrome (JS) in a fetus. Methods. Prenatal ultrasound and magnetic resonance imaging (MRI) examinations were performed, and genetic analysis was conducted using targeted next-generation sequencing (NGS) and Sanger sequencing. Results. Prenatal ultrasound and MRI examinations showed cerebellar vermis hypoplasia and molar tooth sign (MTS); hence the fetus was diagnosed with JS. Further genetic analysis revealed a known missense variant (c.3599C>T, p.A1200V) and a novel missense variant (c.3857G>A, p.R1286H) in the C5orf42 gene of the fetus. Conclusion. Our study provides insights into prenatal and early diagnosis of JS and expands the variation spectrum of C5orf42 gene. [ABSTRACT FROM AUTHOR]

Aim: Congenital portosystemic shunts (CPSS) are rare, congenital malformations that are increasingly often discovered during the fetal period, and for which, the manifestations and evolution are poorly understood. The objective of this review is to describe the phenotype and evolution of forms diagnosed in the antenatal period.Materials and Methods: We performed a systematic review of the literature cited in Pubmed between 1982 and 2016 for CPSS cases diagnosed during the fetal period.Results: We identified 123 cases. The median age at diagnosis was 25 GA (14-38 weeks GA). Eighty patients had 128 associated congenital anomalies. The congenital abnormalities most frequently associated with antenatal diagnosis of CPSS were congenital cardiac disease (30 cases), intrauterine growth restriction (21 cases), vascular anomalies (14 cases), and trisomy 21 (7 cases). Seventy-five complications were reported in the literature. The most frequent were antenatal hemodynamic abnormalities (27 cases), neonatal cholestasis (11 cases), and hyperammonemia (10 cases). Twenty-nine patients had no complications. The choice of treatment was conservative in 29/56 cases, interventional radiology in 15 cases and surgery in 15 cases (three of the latter after failure of embolization).Conclusion: From this review, we propose an algorithm for the perinatal management of this congenital abnormality. [ABSTRACT FROM AUTHOR]

Purpose: One of the greatest challenges with the finding of adducted thumbs in the prenatal setting is the determination of whether this finding is associated with an underlying genetic syndrome. The aim of the present study is to describe the characteristics and outcome of prenatal sonographic diagnosis of adducted thumbs.Methods: A retrospective study was conducted over a period of 17 years in a tertiary referral center. All fetuses diagnosed prenatally with adducted thumbs comprised the study group. Prenatal sonographic assessment and neonatal outcome are presented.Results: Six fetuses were evaluated for adducted thumbs over the 17-year period. In three cases, the parents elected termination of pregnancy for severe associated anomalies. In one case partial resolution was observed during the third trimester. Of the remaining two fetuses, one had a single umbilical artery and in the second the adducted thumbs were an isolated finding. Post-natal evaluation in both cases revealed bilateral adducted thumbs. Apart from orthopedic follow up no further interventions were needed.Conclusions: Prenatal diagnosis of adducted thumbs should be followed by a meticulous fetal ultrasound examination combined with genetic counseling. According to our cohort, if associated anomalies are excluded, isolated cases seem to have a favorable diagnosis. [ABSTRACT FROM AUTHOR]

Abstract: A complete hydatidiform mole (CHM) coexisting with a viable fetus is a rare finding in pregnancies. Accurate diagnosis often relies on ultrasonographic, histopathological and molecular techniques in the definite diagnosis. To the best of our knowledge, a liveborn fetus coexisting with CHM with trisomy 9 has not been described. The use of molecular genotyping and immunohistochemical laboratory investigations enabled the CHM to be fully characterized. Postzygotic diploidization of a triploid conception arising from dispermy is the proposed mechanism of its formation. [ABSTRACT FROM AUTHOR]

Our study aimed to identify the knowledge, attitude, and factors associated with uptake of amniocentesis test amongst pregnant women of advanced maternal age (35+ years old). A cross-sectional survey was performed on 481 participants in 2016. Women with higher educational attainment, higher income level, having a baby with congenital defects, and women with better knowledge and/or attitude about amniocentesis test were more likely to accept the test. Our study suggested the importance of counseling for women and more time should be given for them to absorb information before they make their decision to uptake the amniocentesis test. [ABSTRACT FROM AUTHOR]

Objective: To evaluate interobserver agreement in assessment of ultrasound signs and histopathologic findings associated with placenta accreta spectrum (PAS) disorders.Methods: A retrospective study was conducted using data for patients prenatally diagnosed with PAS disorders at a UK hospital between January 31, 2012, and March 30, 2017. Ultrasound images (including gray-scale and color Doppler imaging [CDI] parameters) and histopathologic slides were reviewed by two observers; the level of agreement was calculated.Results: Among 25 patients, 11 had placenta creta, 10 had placenta increta, and four had placenta percreta. Interobserver agreement for ultrasound imaging in the second and third trimesters and histopathologic diagnosis of PAS was rated as good-to-excellent. The highest level of interobserver agreement for ultrasound signs was found for loss of clear zone (100%) and substantial myometrial thinning (96%-100%) on gray-scale imaging, the presence of lacunar feeder vessels (100%) on two-dimensional CDI, and crossing vessels and lacunae (92%-95%) on three-dimensional CDI.Conclusion: Standardized ultrasound signs might prove useful for prenatal screening of women at risk of PAS disorders and should enable remote evaluation of images when PAS is suspected. [ABSTRACT FROM AUTHOR]

Objective: To examine the risk for clinically significant chromosomal microarray analysis (CMA) among fetuses with apparently isolated horseshoe kidney.Methods: Data from all CMA analyses performed due to isolated horseshoe kidney reported to the Israeli Ministry of Health between January 2013 and September 2016 were retrospectively obtained from a computerized database. Risk estimation was performed comparing the rate of abnormal CMA findings to the general population, based on a systematic review encompassing 9272 pregnancies with normal ultrasound, and local data cohort of 5541 pregnancies undergoing CMA due to maternal request.Results: Of 82 pregnancies with isolated horseshoe kidney, one loss-of-copy-number variant compatible with 16p13.11 microdeletion syndrome was demonstrated (1.2%). In addition, two variants of unknown significance (VOUS) were detected (2.4%). The relative risk for pathogenic CMA findings among pregnancies with isolated single horseshoe kidney was not significantly different from the control population (1.03-1.39%).Discussion: To our best knowledge, our study is the first report describing the rate of clinically significant CMA findings in fetuses with isolated horseshoe kidney. The detection of one pathogenic CMA findings in our cohort implies that the value of CMA analysis in such pregnancies is similar to the general population. [ABSTRACT FROM AUTHOR]

Introduction: Our objective was to elucidate the overall diagnostic accuracy of ultrasound in detecting the severity of abnormally invasive placentation (AIP).Material and Methods: Medline, Embase, CINAHL and The Cochrane databases were searched. The ultrasound signs explored were: loss of hypoechoic (clear) zone in the placental-uterine interface, placental lacunae, bladder wall interruption, myometrial thinning, focal exophitic mass, placental lacunar flow, subplacental vascularity, and uterovesical hypervascularity.Results: Twenty studies (3209 pregnancies) were included. Ultrasound had an overall good diagnostic accuracy in identifying the depth of placental invasion with sensitivities of 90.6%, 93.0%, 89.5%, and 81.2% for placenta accreta, increta, accreta/increta, and percreta, respectively; the corresponding specificities were 97.1%, 98.4%, 94.7%, and 98.9%. Placental lacunae had sensitivities of 74.8%, 88.6%, and 76.3% for the detection of placenta accreta, increta, and percreta, respectively. Sensitivity and specificity of loss of the clear zone in identifying placenta accreta were 74.9% and 92.0%, whereas the corresponding figures for placenta increta and percreta were 91.6% and 76.9%, and 88.1% and 71.1%. Lacunar flow had sensitivities of 81.2%, 84.3%, and 45.2% for the detection of placenta accreta, increta, and percreta respectively; the corresponding figures for specificity were 84.0%, 79.7%, and 75.3%. Sensitivity of uterovesical hypervascularity was low for the detection of placenta accreta (12.3%) but high for placenta increta (94.4%) and percreta (86.2%); the corresponding figures for specificity were 90.8%, 88.0% and 88.2%, respectively.Conclusions: Ultrasound has an overall good diagnostic accuracy in recognizing the depth and the topography of placental invasion. [ABSTRACT FROM AUTHOR]

Background Microcephaly is one of the most common fetal structural abnormalities, and prenatal microcephaly is considered a group I malformation of cortical development diagnosed according to ultrasound (US) skull measurements. Purpose To evaluate the agreement between fetal head US and magnetic resonance imaging (MRI) biometric measurements of suspected microcephalic fetuses. Material and Methods This institutional review board-approved retrospective study with waived informed consent included 180 pregnant women and was conducted at our medical center from March 2011 to April 2013. Biparietal diameter (BPD) and occipitofrontal diameter (OFD) results of fetal head US normograms were compared to normograms for MRI. We used Pearson and Spearman rho non-parametric correlation coefficients to assess the association between two quantitative variables, paired t-test for paired quantitative variables, and McNemar test for paired qualitative variables. Results The average BPD but not the average OFD percentiles in fetal head US differed significantly from the MRI results ( P < 0.0001). When looking at the accepted microcephaly threshold, both BPD and OFD percentiles differed significantly from MRI ( P < 0.0001 and P < 0.004, respectively). There was no correlation between US-measured skull biometry and MRI-measured brain biometry. Estimated cerebrospinal fluid volumes were significantly lower in the study group compared to 120 fetuses with normal findings in prenatal head US and MRI. Also, we have created a MRI-based normogram of fetal head circumference and gestational age. Conclusion The diagnosis of microcephaly by US alone may be insufficient and ideally should be validated by MRI before a final diagnosis is established. [ABSTRACT FROM AUTHOR]

Aim According to the published work, pregnancy termination rates due to prenatal diagnosis of fetal sex chromosome aneuploidies (SCA) vary widely. Some potentially modifiable and non-modifiable factors have been reported to be associated with parental decision. This study aimed to evaluate the rate of pregnancy termination for fetal SCA and the factors influencing parents' decisions in Hong Kong. Methods This was a 21-year retrospective cohort study of parents' decisions following prenatal diagnosis of SCA. Univariate and multivariate analyses for the association between demographic factors, prenatal factors, or counseling provided and decision-making were conducted. Results The study included 399 pregnancies with prenatal diagnosis of SCA and the overall termination rate was 55.6% (91.7%, 48.0%, 23.4%, 4.8%, and 22.7% for 45,X, 47,XXY, 47,XXX, 47,XYY, and mosaicism, respectively). Pregnancies with ultrasound abnormalities were associated with higher termination rates than pregnancies with normal ultrasound findings (91.3% vs 28.3%, P < 0.0001). From multivariate regression analysis on 226 pregnancies with normal ultrasound examination, a higher likelihood to terminate was found in pregnancies affected by 45,X and 47,XXY (adjusted odds ratio, 4.72, P < 0.0001). Increased maternal age and history of infertility were associated with lower likelihood to terminate (adjusted odds ratio, 0.9, P = 0.012; and 5.12, P = 0.038, respectively). The pregnancy termination rate declined over time. Conclusion A significant correlation was found between the termination of SCA-affected pregnancy and the presence of fetal sonographic abnormalities, type of SCA, maternal age, and presence of infertility. [ABSTRACT FROM AUTHOR]

Objective The aim of this pilot study was to provide modern reference intervals for both inferior facial angle and hemi-mandible length in fetuses of 18-21 weeks' gestation. Methods Prospectively, 296 apparently normal fetuses were sonographically assessed at 18-21 weeks' gestation. Inferior facial angle and hemi-mandible length were measured and parametrically analysed with respect to gestational age. Regression models were derived for each parameter and compared with models of previous studies. Results The mean inferior facial angle remained constant over the studied gestational age range at 63.9°, with 5th and 95th percentiles of 56.6° and 73.4°, respectively. Hemi-mandible length was found to be positively correlated with gestational age over the studied range, and the mean value is described by the equation 40.89 mm - (6327.495 × GA−2) with a standard deviation of 1.231 mm. Conclusion Modern reference intervals for inferior facial angle and hemi-mandible length were defined within this pilot study. These reference intervals will aid in improving accuracy diagnosing micrognathia and our ability to differentiate true micrognathia from retrognathia. [ABSTRACT FROM AUTHOR]

Purpose: First trimester risk assessment plays a major role in the contemporary pregnancy care. It has evolved significantly since its introduction in the 1990s when it essentially consisted of just the nuchal translucency measurement. Today, it involves the measurement of several biophysical and biochemical markers and can assess the risk for a wide array of major chromosomal and non-chromosomal defects as well as other pregnancy-related complications.Methods: A search of the Medline and Embase databases was done looking for articles about first trimester screening. We performed a detailed review of the literature to evaluate the screening tests currently available and their respective test performance.Results: The detailed ultrasound examination results in the detection of about half of major structural defects, determination of a very accurate gestational age, and identification of multiple pregnancies as well as their chorionicity. In addition, risk assessment for preeclampsia and early IUGR can be established at this stage. In case of an increased risk, the daily use of low-dose aspirin can be offered at a point in pregnancy when it still can have a positive impact. Additional screening tests for gestational diabetes and macrosomia are available.Conclusion: Contemporary first trimester screening is essential to establish an individual risk profile and can be used to tailor the pregnancy care. [ABSTRACT FROM AUTHOR]

Purpose: To determine if sonographic variables, including fetal femur length to abdominal circumference (FL/AC) ratio, are associated with shoulder dystocia in women with gestational diabetes.Methods: This was a retrospective cohort study of women with gestational diabetes who delivered singleton infants at Parkland Hospital from 1997 to 2015. Diagnosis and treatment of gestational diabetes were uniform including sonography at 32-36 weeks. Biometric calculations were evaluated for correlation with shoulder dystocia.Results: During the study period, 6952 women with gestational diabetes underwent a sonogram at a mean gestation of 34.8 ± 1.8 weeks. Of 4183 vaginal deliveries, 66 experienced shoulder dystocia (16/1000). The FL/AC was associated with shoulder dystocia (p < 0.001) with an AUC of 0.70 (95% CI: 0.64-0.77). This was similar to age-adjusted AC and head circumference to AC ratio (HC/AC) (both with an AUC of 0.72). All other measurements, including estimated fetal weight, were inferior. When examining the 257 women with multiple sonograms after 32 weeks' gestation, FL/AC was stable with advancing gestational age (p = 0.54) whereas age-adjusted AC and HC/AC were not (p < 0.001).Conclusions: The FL/AC is associated with shoulder dystocia in women with gestational diabetes. Additionally, it is a simple ratio that is independent of the reference used and remains stable, unlike age-adjusted AC and HC/AC ratio. [ABSTRACT FROM AUTHOR]

With all of our present knowledge, high technology diagnostic equipment, electronic databases and other available supporting resources, detection of fetal syndromes is still a challenge for healthcare providers in prenatal as well as in the postnatal period. Prenatal diagnosis of fetal syndromes is not straightforward, and it is a difficult puzzle that needs to be assembled and solved. Detection of one anomaly should always raise a suspicion of the existence of more anomalies, and can be a trigger to investigate further and raise awareness of possible syndromes. Highly specialized software systems for three- and four-dimensional ultrasound (3D/4D US) enabled detailed depiction of fetal anatomy and assessment of the dynamics of fetal structural and functional development in real time. With recent advances in 3D/4D US technology, antenatal diagnosis of fetal anomalies and syndromes shifted from the 2nd to the 1st trimester of pregnancy. It is questionable what can and should be done after the prenatal diagnosis of fetal syndrome. The 3D and 4D US techniques improved detection accuracy of fetal abnormalities and syndromes from early pregnancy onwards. It is not easy to make prenatal diagnosis of fetal syndromes, so tools which help like online integrated databases are needed to increase diagnostic precision. The aim of this paper is to present the possibilities of different US techniques in the detection of some fetal syndromes prenatally. [ABSTRACT FROM AUTHOR]

Three-/four-dimensional (3D/4D) imaging enables a more detailed survey of the embryo and the fetus compared to two-dimensional (2D) ultrasound. The availability of several display modes and standardized examinations permits the demonstration of both the normal and abnormal fetal anatomy in controlled planes and rendered images from different angles. This allows the demonstration of even subtle fetal defects in an ideal sectional plane in a precisely rendered surface or transparent image viewed from an optimal angle. When counseling the parents, the rendered images can help them understand the severity of an existing malformation or, conversely, ensure them of the absence of any fetal abnormality. This is particularly useful in cases with an increased recurrence risk of a specific fetal malformation. [ABSTRACT FROM AUTHOR]

Three-dimensional ultrasound (3D US) is a modality of choice for prenatal diagnosis of congenital malformations. But 3D-four-dimensional US(4D US) is of utmost importance also to achieve pregnancy. 3D US plays an important role for diagnosis of PCO, to assess ovarian reserve and response and thus to decide optimum stimulation protocols. It adds to the information on follicular maturity and endometrial receptivity, thus improving the chances to achieve pregnancy for patients under treatment for fertility. 3D hystero-contrast-salpingography (HyCoSy) has also proved itself to be one of the best modalities for assessment of tubal patency. In this article, the role of 3D and 4D US is discussed for the following. I. Pretreatment assessment of the females desiring fertility which includes assessment of uterus and fallopian tubes. II. Monitoring of infertile females undergoing treatment. III. Assessment of very early pregnancy - especially in abnormal locations. [ABSTRACT FROM AUTHOR]