Sex chromosome aneuploidy detection by noninvasive prenatal testing: helpful or hazardous?

Objectives: To assess the incidence of sex chromosome aneuploidy (SCA) predicted by noninvasive prenatal testing (NIPT), assess test performance, and compare it with nuchal translucency (NT) screening among patients seen in our prenatal diagnosis center.

Methods: We identified suspected cases of SCA by reviewing results from all NIPT samples sent from our center to commercial laboratories offering analysis by cell-free DNA between 1 December 2012 and 31 July 2015. Records of pregnancies positive for SCA were reviewed for ultrasound findings, NIPT indications, and karyotype results on maternal, fetal, and postnatal samples.

Outcomes of pregnancies with a low-lying placenta diagnosed on second-trimester sonography.

Objectives: The purpose of this study was to determine how often a low-lying placenta, defined as a placenta ending within 2 cm of the internal cervical os but not covering it, diagnosed sonographically in the second trimester resolves before delivery.

Methods: After Institutional Review Board approval was obtained, 1416 pregnancies with a sonographically diagnosed low-lying placenta between 16 and 24 weeks' gestation were identified from our ultrasound database over a 5-year period. We reviewed medical records to determine the gestational age at which the low-lying placenta was first diagnosed, the gestational age at which the placenta was no longer sonographically low lying or covering the cervix, and, of those whose placentas that never cleared the internal cervical os sonographically, how many went on to cesarean delivery as a result of placental location.

Apert syndrome: what prenatal radiographic findings should prompt its consideration?

Apert syndrome was diagnosed in a newborn with typical facial and digital features whose only detected prenatal abnormality had been agenesis of the corpus callosum. This prompted a review of the central nervous system findings in all cases of Apert syndrome treated at the Craniofacial Center Boston Children's Hospital between 1978 and 2004. Two of 30 patients with Apert syndrome had prenatal identification of mild dilatation of the lateral cerebral ventricles and complete agenesis of the corpus callosum (ACC) documented with both ultrasound and MRI.