Eran Bornstein

First-Trimester Sonographic Findings Associated With a Dandy-Walker Malformation and Inferior Vermian Hypoplasia

We report 2 cases in which first‐trimester measurements of the intracranial translucency and the brain stem‐to‐occipital bone diameter were markedly enlarged. This finding was thought to represent an abnormal fourth ventricle‐cisterna magna complex. Subsequently, the diagnoses of a Dandy‐Walker malformation with partial vermian agenesis in 1 case and inferior vermian hypoplasia in the other were established and confirmed by either postmortem autopsy or postnatal magnetic resonance imaging. These cases suggest that evaluation of the fourth ventricle‐cisterna magna complex, by measuring the intracranial translucency or brain stem‐to‐occipital bone diameter may identify some cases with structural malformations of the cerebellum as early as the first trimester.

Universal Prenatal Chromosomal Microarray Analysis: Additive Value and Clinical Dilemmas in Fetuses with a Normal Karyotype.

Objective To assess the additive value of prenatal chromosomal microarray analysis (CMA) for all indications and the likelihood of detecting pathologic copy number variations (CNVs) based on specific indications. Methods A retrospective analysis was performed on amniocentesis and chorionic villi sampling results obtained between 2010 and 2014 in a single institution. A total of 3,314 consecutive patients undergoing invasive genetic testing for different indications were offered CMA in addition to standard karyotype. The prevalence of pathologic CNVs was compared between patients with low‐risk indications and those with high‐risk indications. Likewise, the prevalence of pathologic CNVs among patients with different sonographic abnormalities was calculated and compared with the low‐risk group. Chi‐square and Fisher exact tests were used for statistical analysis. Results The prevalence of pathologic CNVs was significantly higher in patients with high‐risk indications and specifically those with sonographic abnormalities, compared with the low‐risk group (2.8 and 5.9% vs. 0.4%, respectively; all p < 0.05). Conclusion Prenatal CMA detected clinically relevant CNVs in fetuses with a normal karyotype. Major structural malformations and nuchal translucency (NT) ≥ 3.0 mm are associated with the highest risk for a CMA abnormality. Nevertheless, the prevalence of pathologic CNVs in the low‐risk population was high enough (1:250) to consider genetic counseling in this group.

Fetal and Postnatal Magnetic Resonance Imaging of Unilateral Cystic Renal Dysplasia in a Neonate with Tuberous Sclerosis.

Tuberous sclerosis (TS) is an autosomal dominant condition associated with mutations in the TSC1 and/or TSC2 genes. Clinical manifestations are multisystemic, and they often include lesions in the brain, skin, heart, kidneys, and bones. TSC2 gene mutations can be seen concomitantly with autosomal dominant polycystic kidney disease gene mutations. We present a case of a fetus with prenatal diagnosis of TS that had unique asymmetrical distribution of renal cystic disease. We describe the extensive work up with both fetal and neonatal magnetic resonance imaging with correlating images of the unilateral polycystic renal disease in addition to typical TS brain findings.

The association of maternal BMI with fetal echogenic intracardiac foci and echogenic bowel

Objectives.u2003To evaluate the impact of maternal body mass index (BMI) as well as maternal ethnicity on the detection of either echogenic intra-cardiac focus (EIF) or echogenic bowel (EB). Methods.u2003This prospective study identified 74 uncomplicated singleton fetuses in which EIF and/or EB were detected between 18 and 21 weeks of gestation (i.e. study group). Seventy four consecutively scanned fetuses without EIF or EB, at the same gestational age, were selected as controls. The differences in maternal BMI and maternal ethnicity were compared between the two groups using the χ2 test, Fishers exact test, and the Student t-test. A multivariable logistic regression model was constructed to control for confounders. Odds ratios (OR) and their 95% confidence interval (CI) were computed. Results.u2003The mean maternal BMI was significantly lower in the study group as compared to controls (22.9u2009±u20093.1 vs. 28.0u2009±u20097.5u2009kg/m2, respectively; pu2009<u20090.0001). Patients with fetal EIF and/or EB were significantly more likely to be Asians (20.3% vs. 5.4%, ORu2009=u20094.5; 95% CI 1.3–16.9). Using a multivariable analysis, controlling for ethnicity, the association between maternal BMI and fetal EIF or EB remained significant (ORu2009=u20090.83; 95% CI 0.76–0.91). However, based on this model Asian ethnicity was not an independent risk factor for the detection of EIF and/or EB (ORu2009=u20092.6; 95% CI 0.8–8.9). Conclusions.u2003Our data suggests an inverse relationship between the maternal BMI and the detection of fetal EIF and/or EB. Moreover, it appears that low maternal BMI, and not Asian ethnicity, is an independent risk factor for the detection of these echogenic fetal findings.

OC19.04: Minimally invasive treatment of Caesarean scar and cervical pregnancies using a cervical ripening double balloon catheter: expanding the clinical series

evaluated with QF-PCR or SNP array. However, in these cases, cfDNA testing was able to give the result. Conclusions: Considering nonviable pregnancies, fetal cfDNA is present in the maternal plasma with fetal fraction more than 4% in 72 % of cases between 5 an 12 weeks and thus can be used in aneuploidy detection, especially in cases, where decidual samples cannot be assessed using QF-PCR or SNP array because of maternal contamination which occurs in 26% of cases.

Microarray analysis: First‐trimester maternal serum free β‐hCG and the risk of significant copy number variants

To determine whether abnormal levels of first‐trimester maternal serum free β‐hCG and PAPP‐A are associated with significant copy number variants (CNVs) on chromosomal microarray analysis (CMA).

Minimally Invasive Treatment of Cesarean Scar and Cervical Pregnancies Using a Cervical Ripening Double Balloon Catheter: Expanding the Clinical Series: Treatment of CSP and CxP With Double Balloon Catheter

The efficacy of treating cesarean scar pregnancies and cervical pregnancies with the Cook® cervical ripening balloon catheter, in a multicenter office‐based setting is reported. Thirty‐eight women were treated. Insertion of the catheter was performed under real‐time ultrasound guidance. Patients received adjuvant systemic methotrexate, prophylactic oral antibiotics, and oral pain medication. Serum human chorionic gonadotropin and ultrasound scans were followed serially until resolution. Thirty‐seven patients were successfully treated, requiring no further procedures. We found that the Cook cervical ripening balloon technique is a simple, effective, outpatient, minimally invasive treatment with few complications noted in this expanded series.

Perinatal hemorrhage from ulceration of the umbilical cord: A potentially catastrophic association with duodenal and jejunal obstruction

PURPOSEnThe purpose of this study is to review published reports and contribute new cases of umbilical cord ulceration (UCU) with perinatal hemorrhage into the amniotic cavity in the setting of duodenal or jejunal obstruction because knowledge of this sequence is poorly disseminated and could be lifesaving.nnnMETHODSnPublished reports of UCU with hemorrhage associated with congenital duodenal or jejunal obstruction were reviewed. Chart review was conducted for the cases encountered at our institutions between January 2008 and March 2017. We noted perinatal complications, method of delivery, gestational age, birth weight, gender, number, location, and pathologic description of umbilical cord ulcers, and outcome.nnnRESULTSnThirty-one reports and 7 new cases were studied. Perinatal complications included: preterm labor or preterm premature rupture of membranes: 63%; fetal distress: 95%; mean gestational age: 33weeks; premature gestation: 95%; bloody amniotic fluid: 90%. Pathological analysis of UCUs revealed solitary, multifocal, helical and punched-out lesions. There were 12 neonatal deaths (32%), and 12 intrauterine deaths (32%). Survival rate was 37%.nnnCONCLUSIONSnUCU with perinatal hemorrhage is associated with duodenal and jejunal obstruction. Knowing the typical clinical signs of this potential catastrophic complication could prompt lifesaving delivery.nnnTYPE OF STUDYnPrognostic LEVEL OF EVIDENCE: IV.