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Objectives Studies in the early 1990s showed that the normal levels of the biochemical markers used to screen for Down syndrome in the second trimester of pregnancy differ between healthy women and women with insulin-dependent diabetes mellitus (IDDM). Thereafter, most laboratories adopted correcting factors to adjust for these differences. However, the current validity of these factors in light of the recent improvements in glycemic control in diabetic pregnancy has not been investigated. Methods The sample consisted of 35 pregnant women with strictly controlled IDDM and 40 healthy controls matched for age and gestational week. All women had singleton pregnancies and were followed till delivery. Results Comparison of the triple test results between the two groups after adjustment with the traditional corrective factors yielded no significant differences in serum levels of any of the markers (unconjugated estriol, human chorionic gonadotrophin, alpha-fetoprotein). Conclusions These results suggest that the recent improvement in glycemic control of pregnant women with IDDM changes the metabolic milieu that might cause the biochemical differences with healthy pregnant patients. Copyright © 2003 John Wiley & Sons, Ltd. [ABSTRACT FROM AUTHOR]

Objective: To investigate the association of agenesis of the ductus venosus (ADV) with genetic abnormalities using genetic studies-Chromosomal Microarray Analysis (CMA) and Exome Sequencing (ES)., Design: Retrospective study of all fetuses diagnosed with ADV between January 2013 and December 2022 in a tertiary center., Results: ADV was diagnosed in 33 fetuses. The diagnosis was made at a mean gestational age of 21.2 ± 8.4 weeks. Conventional karyotype was applied in a single fetus (3.0%), CMA was applied in 21 fetuses (66.7%), and five fetuses (22.8%) were additionally tested with ES. ADV was isolated in eight fetuses (24%), whereas in 25 (76%) it was associated with abnormal ultrasound findings, including increased nuchal translucency (NT), intrauterine growth restriction (IUGR) and variable structural malformations, mostly cardiac (42%) followed by central nervous system (CNS) and skeletal malformations (24%). Genetic abnormalities were found in six fetuses out of 22 investigated (27%), of which 3 were detected by ES, 3 by CMA and 1 by conventional karyotype. A higher incidence of genetic aberrations was evident among ADVs associated with abnormal ultrasound findings. Genetic abnormalities were indicative of Prader Willi/Angelman syndrome, Noonan syndrome, CASK related disorder, 16q24.3 microdeletion syndrome and Trisomy 21., Conclusion: ADV associated with abnormal ultrasound findings is commonly correlated with genetic abnormalities and consequently unfavorable pregnancy outcomes. Our study emphasizes the value of genetic studies chiefly among cases associated with abnormal ultrasound findings, enabling early diagnosis of fetal pathologies associated with ADV, and providing better parental counseling., (© 2024 The Author(s). Prenatal Diagnosis published by John Wiley & Sons Ltd.)

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

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

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

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

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

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

Objective: The linkage between 17q12 microdeletions, renal anomalies, and higher risk for neurodevelopmental disorders is well described in the literature. The current study presents prenatal diagnosis of normal-sized fetal hyperechogenic kidneys leading to the diagnosis of 17q12 deletion syndrome and autism spectrum disorder., Methods: Over a period of 9 years in a single referral center, seven fetuses were diagnosed with hyperechogenic renal parenchyma and were followed up prospectively. Amniocentesis for molecular diagnosis was performed in all cases, and subsequently, five fetuses were found to harbor a 17q12 deletion by chromosomal microarray analysis. Postnatal evaluation was carried out by a developmental neurologist., Results: Five of the seven fetuses had molecular diagnosis of 17q12 deletion. One patient elected termination of pregnancy. On long-term follow-up, all of the four children showed symptoms consistent with neurodevelopmental disorders. The two fetuses with no deletion have a normal follow-up with regression of the renal hyperechogenicity., Conclusions: We report a strikingly high correlation between prenatal hyperechogenic kidneys, 17q12 microdeletion, and autism spectrum disorder with the advantage of optimal prenatal counseling as well as early diagnosis and intervention. © 2016 John Wiley & Sons, Ltd., (© 2016 John Wiley & Sons, Ltd.)

Objective: To create nomograms of fetal renal compensatory growth in cases of unilateral renal agenesis (URA)., Methods: A retrospective study of fetuses with isolated URA diagnosed prenatally, and confirmed postnatal was performed., Results: Seventy-four fetuses with isolated solitary kidney were included in the study. A total of 134 measurements of the kidney's length were performed. Ninety five of them were studied longitudinally (2-6 measurements each). The raw values of the compensatory kidney demonstrated a significant correlation with gestational age (Pearson correlation coefficient 0.901, p < 0.001). A quadratic/cubic regression curve, both, described best this relationship, -26.400 + 3.004*GA, -0.026*GA 2 (r 2  = 0.819). The Z score between the mean predicted compensatory kidney's length, per week of gestation, and the mean predicted values of normal kidney length as previously published in the literature, progressively increased during pregnancy (cubic r 2  = 0.946 and 0.260)., Conclusion: Cases of URA show a unique growth pattern of the single kidney from second trimester to term. Postnatal renal function is dependent on adequate intra-uterine compensatory growth; the presented nomograms provide insight into renal prognosis and add paramount information to the multidisciplinary prenatal counseling of the future parents. © 2016 John Wiley & Sons, Ltd., (© 2016 John Wiley & Sons, Ltd.)

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

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

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

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

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