A de novo pathogenic variant in DHX30 gene in a fetus with isolated dysgenesis of the corpus callosum.

A 36 years old woman in her first pregnancy was referred at 24w3d for a dedicated neurosonographic examination due to a suspected short corpus callosum (CC). The examination depicted a dysgenetic CC with asymmetric thickness at the level of the body in coronal views, very thin in the midline and thicker in both sides, suggesting bilateral formation of Probst bundles. The BPD, HC, and transverse cerebellar diameters were in the normal low range without associated growth restriction. Associated anomalies were not detected in the brain or other organs. Following genetic consultation and a normal CMA, trio exome sequencing was performed and a de novo missense pathogenic mutation c.2353 C > T in the DHX30 gene was detected. This variant has been previously reported in children and adults, mostly with a severe phenotype including neurodevelopmental disorder with variable motor and language impairment, but also mild phenotypes have been reported. MRI describes delayed myelination, ventriculomegaly, and cortical and cerebellar atrophy as imaging features in affected patients. This is the first prenatal report of a DHX30-associated neurodevelopmental disorder in which the fetus presents with isolated callosal dysgenesis, stressing the importance of exome sequencing in fetuses with this condition, as far as it is phenotypic presentation of numerous syndromes with different outcomes.

Head progression distance during the first stage of labor as a predictor for delivery outcome.

Objectives: To assess if measurement of the head progression distance (PD) during the first stage of labor in nulliparous women can predict the delivery method.Methods: A prospective study was conducted on consecutive nulliparous women beyond 37 week's gestation during the first stage of labor. Transperineal ultrasound was performed to assess the PD. Analysis was performed on the relationships between PD during rest and during voluntary pushing and the fetal and maternal characteristics, delivery mode, and immediate postnatal outcomes.Results: Eighty seven suitable nulliparous women were suitable for analysis. PD was found to be significantly longer in women who delivered vaginally (VD) compared to those who underwent a cesarean section (CS) for obstructed labor: PD at rest was 2.51 ± 1.71 cm in women who delivered vaginally compared to 1.48 ± 1.9 cm in women who delivered by CS (p = .01). The PD during pushing was 3.43 ± 1.8 cm for a VD compared to 1.5 ± 2.1 cm for CS (p = .015). Logistic regression and receiver-operating characteristics curve analysis demonstrated a moderate predictive value of PD with respect to the mode of delivery (area under the curve was 0.67 during both resting and pushing period).Conclusion: PD measurements during the first stage of labor among nulliparous women differ significantly both in rest and during pushing between patients who delivered vaginally compared to CS and can therefore assist in predicting the mode of delivery.

Intrapartum sonographic assessment of labor.

Fetal head progression during labor is difficult to assess. Digital examination has been shown to be an inaccurate method. Utilizing the ultrasound technology in the delivery room can standardize the way we assess head progression. Intrapartum ultrasound is applicable, for the assessment of the progression of labor and assists the obstetrician, in decision making regarding the need for an assisted delivery. This article summarizes the latest studies regarding the usage of ultrasound in the delivery room and the measurements that are used during delivery.