Malformations of cortical development: Fetal imaging and genetics.

Background: Malformations of cortical development (MCD) are a group of congenital disorders characterized by structural abnormalities in the brain cortex. The clinical manifestations include refractory epilepsy, mental retardation, and cognitive impairment. Genetic factors play a key role in the etiology of MCD.

Epidemiology of fetal cerebral ventriculomegaly and evaluation of chromosomal microarray analysis versus karyotyping for prenatal diagnosis in a Chinese hospital.

Objective: To evaluate the efficiency and incremental value of chromosomal microarray analysis as compared with standard karyotyping for the identification of genomic abnormalities in fetal DNA.

Methods: This retrospective study enrolled female patients with ultrasonographically diagnosed fetal ventriculomegaly. The prevalence, associated anomalies and clinical outcomes of ventriculomegaly were evaluated based on data from a single maternal and child health hospital in southwest China.

Decreased endometrial vascularity and receptivity in unexplained recurrent miscarriage patients during midluteal and early pregnancy phases.

Objective: To evaluate the predictive value of three-dimensional (3D)-power Doppler sonography on recurrent miscarriage.

Materials And Methods: The study patients were divided into a recurrent miscarriage group (30 cases) and a normal pregnancy group (21 cases). Measurement of endometrial thickness was performed using two-dimensional transvaginal ultrasound in the midluteal phase.

[Cytogenetic analysis of 105 new human abnormal karyotypes].

To analyze the genetic effect of the abnormal chromosome karyotype, we summarized and studied the clinical data of the new abnormal karyotypes diagnosed at the Guangxi Zhuang Autonomous Region Women and Children Care Hospital from January 2009 to July 2012. The samples were cultured routinely for the karyotype analysis using G banding and C banding. Chromosomal aberrations were named according to the International System for Human Cytogenetic Nomenclature (ISCN 2009).