Isolated hyperechoic fetal colon before 36 weeks' gestation reveals cystinuria.

Objectives: To determine whether there is an association between the fetal ultrasound finding of hyperechoic colon and the gestational age at which it presents and cystinuria.

Methods: A prospective national survey was performed in France including all observations of isolated fetal hyperechoic colon detected at routine second- and third-trimester ultrasound over a 2-year period. Collected images were reviewed by experts.

Walker-Warburg syndrome diagnosed by findings of typical ocular abnormalities on prenatal ultrasound.

Walker-Warburg syndrome (WWS) is a rare, lethal autosomal recessive disorder characterized by congenital muscular dystrophy and brain and eye anomalies. A prenatal finding of hydrocephalus associated with posterior fossa anomalies and/or encephalocele is nonspecific, whereas additional ocular anomalies are typical for WWS. We report a fetus of consanguineous parents found to have encephalocele at US in week 15 of gestation.

Giant diencephalic harmartoma and related anomalies: a newly recognized entity distinct from the Pallister-Hall syndrome.

An hypothalamic hamartoma is an abnormal mass of mature glio-neuronal tissue present in the hypothalamic area. It usually measures <2 cm of diameter. Most of the time, this hamartoma occurs in Pallister-Hall syndrome (PHS), due to heterozygous GLI3 mutations.

[Lung signal on fetal MRI: normal values and usefulness for congenital diaphragmatic hernia].

Purpose: To demonstrate the feasibility of lung signal measurements on fetal MRI, present normal signal intensity curves, and assess its value to predict pulmonary hypoplasia.

Patients And Methods: Prospective multicentric study of 115 fetuses without lung disease and 33 fetuses with left diaphragmatic hernia and high risk of pulmonary hypoplasia. Signal measurements were obtained of the lungs, liver and psoas from fast heavily T2W sequences (HASTE, 2 measurements and 2 orthogonal planes for each organ, oval-shaped ROI of 1 cm2 for lungs and liver, and 0.