Prenatal Diagnosis Center
Established in 2006, the Prenatal Diagnosis Center of the Chongqing Health Center for Women and Children (Women and Children's Hospital of Chongqing Medical University), or CQHCWC, is one of the first batches of prenatal diagnosis technical service institutions in Chongqing, and also the only provincial-level base for the national congenital disability prevention and control talent training program in the city.
The center leads the city's technical services, such as prenatal screening, genetic counseling, medical imaging, and cytogenetic and molecular genetic diagnosis.
As one of the referral centers for clinical genetics and prenatal diagnosis in Southwest China, it provides convenient services, including eugenics genetic counseling, congenital disability counseling, genetic disease diagnosis, prenatal diagnosis, etiological diagnosis, and treatment of spontaneous abortion, among others.
In 2021, nearly 4,000 cases of interventional prenatal diagnosis were performed at the center. Of which, more than 300 cases of fetal karyotype abnormalities, more than 140 cases of pathogenic copy number variations, and more than 40 cases of single gene diseases were diagnosed.
Technical expertise
The center carries out screening for Down syndrome, non-invasive genetic testing technology, and various interventional prenatal diagnoses technologies such as chorionic villi sampling, amniocentesis, and umbilical cord blood puncture. It covers all current domestic prenatal diagnosis and genetic disease diagnosis items such as chromosome G detection with karyotype analysis, fluorescence in situ hybridization test (FISH), short tandem repeats (STR), chromosome microarray analysis (SNP+aCGH), low-depth whole genome sequencing (CNV-seq), MLPA, QF-PCR, Sanger verification, gene panel, medical exome detection, whole exome sequencing (WES), a particular type of gene detection (fragile X gene detection, thalassemia), etc.