Prenatal diagnosis of sex chromosomal inversion, translocation and deletion.

The aim of the present study was to perform comprehensive prenatal diagnosis using various detection techniques on a fetus in a high‑risk pregnant woman, and to provide genetic counseling for the patient and her family so as to avoid birth defects. The routine karyotype analysis via amniocentesis, fluorescence in situ hybridization, and whole genome microarray technique were performed for the prenatal diagnosis of the fetus. The fetal karyotype was 46,X,ish der(X) inv(X)(p22.

[Prenatal diagnosis of a case with 46,XX,del(4),dup(21)].

Objective: To investigate the genetic cause and prognosis of a fetus with a rare karyotype.

Methods: Fluorescence in situ hybridization (FISH) was used for verifying a structural chromosomal abnormality detected by conventional karyotyping analysis. Whole genome DNA microarray was used to analyze copy number variations carried by the fetus.

[Detection of a fetus with paternally derived 2q37.3 microdeletion and 20p13p12.2 microduplication using whole genome microarray technology].

Objective: To perform prenatal diagnosis for a fetus with multiple malformations.

Methods: The fetus was subjected to routine karyotyping and whole genome microarray analysis. The parents were subjected to high-resolution chromosome analysis.

[Analysis of relationship between patients with chromosomal translocation and the outcome of pregnancy].

Objective: To explore the relationship between chromosome translocation and their phenotypic effect by analyzing the patients with loss pregnancy and avoiding fetuses with chromosomal abnormalities.

Methods: A total of 3067 cases with infertility or loss pregnancy were recruited to receive chromosome examination during January 2005 to December 2011 at Center of Prenatal Diagnosis, Peking University People's Hospital. Retrospective study was used to analyze the chromosome karyotypes and infertility or loss pregnancy.

[Chromosome abnormalities and congenital heart diseases: a retrospective on 49 cases].

Objective: To investigate the association between congenital heart diseases and chromosome abnormalities.

Methods: Patients with congenital heart diseases who underwent chromosome examinations during Jan 2006 and Dec. 2009 in the Center of Prenatal Diagnosis of Beijing University People's Hospital were recruited in the study.