Case report: targeted whole exome sequencing enables the first prenatal diagnosis of the lethal skeletal dysplasia Osteocraniostenosis.

Background: Osteocraniostenosis (OCS) is a rare genetic disorder characterised by premature closure of cranial sutures, gracile bones and perinatal lethality. Previously, diagnosis has only been possible postnatally on clinical and radiological features. This study describes the first prenatal diagnosis of OCS.

Prenatal diagnosis of an ectopic intrathoracic kidney in right-sided congenital diaphragmatic hernia using color Doppler ultrasonography.

The prenatal sonographic features of a fetus with right-sided congenital diaphragmatic hernia diagnosed at 33 weeks are presented. Color Doppler demonstrated an abnormal course of the right renal artery, arising from the aorta and feeding the intrathoracic right kidney. This case report stresses the role of color Doppler in defining which organs have herniated in fetuses with diaphragmatic hernia.

17Beta-estradiol stimulates flow-induced vasodilatation in isolated small mesenteric arteries from prepubertal femal rats.

Objective: Flow-induced vasodilatation may contribute to lowering of peripheral resistance to pregnancy. This study investigated modulation of flow responses by 17beta-estradiol.

Study Design: Small mesenteric arteries from prepubertal female Wistar rats were pretreated for 3 hours with 17beta-estradiol (10(-7) mol/L) with 17alpha-estradiol (10(-7) mol/L) or vehicle (0.