Objective To investigate the value of fetal stomach position in predicting postnatal outcome in left-sided congenital diaphragmatic hernia (CDH) with and without fetoscopic endoluminal tracheal occlusion (FETO). Methods

Objective: To report on our experience in the prenatal treatment of severe congenital diaphragmatic hernia (CDH) by fetoscopic endoluminal tracheal occlusion (FETO). Methods: Between 2012 and 2014, FETO was performed at our center in 21 cases of CDH considered to be severe based on sonographic measurement of observed/expected lung-to-head ratio (O/E LHR) and side of the defect. We reported pre- and postoperative ultrasound findings, procedure-related complications, pregnancy outcome and survival at 1-3 years of age. Results: The median gestational age (GA) at balloon insertion was 28.1 weeks (range 26.0-31.1) and the median GA at delivery 34.7 weeks (range 31.6-39.0); delivery before 32 and 34 weeks occurred in 2 (9.5%) and 7 (33.3%) cases, respectively. Postnatal survival at 1-3 years of age in the 17 cases with isolated unilateral CDH was 47.1%. The percentage difference between pre-balloon removal O/E LHR and pre-FETO O/E LHR was significantly higher in survivors compared to neonates who died (40.8 vs. 21.2%, respectively; p < 0.05). Conclusions: In this study, FETO was associated with an infant survival of 47% in cases with isolated unilateral severe CDH. The post-FETO increase in O/E LHR was higher in fetuses that survived compared to those who died.

Prenatal ultrasound follow-up identifies fetuses at higher risk for a major cerebral abnormality among cases with isolated mild ventriculomegaly. In cases with persistent or progressive enlargement, fetal MRI and postnatal imaging seem appropriate.

Background and aim of the study: Scientific Societies do not recommend the use of cell-free DNA (cfDNA) testing as a first-tier screening for microdeletion and microduplication syndromes (MMs). The aim of this study was to review the current available literature on the performance of cell-free DNA as a screening for MMs.Methods: Medline, Embase and the Cochrane Library were searched electronically from 2000 to January 2020 and articles reporting the diagnostic performance of cfDNA screening for MMs in large (>5000 cases) series were included. Betweenstudy heterogeneity and random effect model for screen positive rate (SPR), false positive rate (FPR) and positive predictive value (PPV) were calculated. Results:We identified 42 papers, seven included, for a total of 474,189 pregnancies and 210 cases of MMs. Diagnostic verification of positive cases was available overall in 486 (71.68 %) of 678 cases. The weighted pooled SPR, FPR and PPV were 0.19% (95% CI = 0.09-0.33), 0.07 (95% CI = 0.02-0.15) and 44.1 (95% CI = 31.49-63.07).In conclusion, the pooled PPV of cfDNA testing in screening for MMs was about 40%, ranging from 29% to 91%, for an overall FPR <0.1%. Conclusions:No confirmatory analysis was available in cases that did not undergo invasive testing, which were the vast majority of cases with a negative test, and therefore, the DR and the negative predictive value cannot be determined. K E Y W O R D Scell-free DNA, fetal cells, fetal diseases, fetal genetic analysis, genetic counseling, nucleic acids & proteins, noninvasive prenatal testing, fetal medicine and diagnostic procedures, whole genome sequencing Key PointsWhat's already known about this topic? � Cell-free DNA (cfDNA) as screening test for microduplication (MMs) is burdened by a high variability of positive predictive value (PPV) which is far from being considered acceptable. Scientific Societies worldwide are concordant in recommending not to offer cfDNA testing for MMs outside well-defined research protocols.

Objective: To compare the sonographic measurement of maternal subcutaneous and visceral adipose thickness between pregnant women with gestational diabetes mellitus (GDM) and patients with nondiabetic pregnancies. Methods: Adipose thickness was measured by transabdominal ultrasound in pregnant women attending our antenatal clinics at 24-28 weeks' gestation. All patients underwent a 75-g oral glucose challenge as a diagnostic test for GDM. Results: The study population comprised 56 women with a positive glucose challenge test and 112 nondiabetic pregnancies. Measurements of subcutaneous and visceral adipose tissues were converted into multiples of the median (MoM), adjusted for gestational age. The mean subcutaneous thickness MoM in patients with GDM was significantly higher compared to nondiabetic pregnancies (1.31 vs. 1.07; p = 0.011). Similarly, the mean visceral thickness MoM was higher in women with a positive oral glucose tolerance test compared to controls (1.61 vs. 1.06; p < 0.001). Multivariate logistic regression analysis demonstrated that visceral adipose thickness, but not subcutaneous thickness, was significantly and independently associated with GDM (odds ratio 34.047, 95% confidence interval 9.489-122.166). Conclusions: Sonographic thickness of maternal visceral adipose tissue at 24-28 weeks' gestation was higher in women with GDM compared to nondiabetic pregnancies, independently from other known risk factors associated with GDM.