Implementation of Prenatal Bobs in prenatal diagnosis chromosomal abnormality in Ha Noi Obstetrics and Gynecology Hospital

Abstract

Among chromosome abnormality prenatal diagnosis tests, karyotyping is still the golden standard, however recent development of other bio-molecular techniques also provided the possibility to early diagnose and detect syndromes such as Down, Patau, Edwards, or defects in sex-determination chromosome after 24-48 hours. Particularly, Prenatal BoBs technique can diagnose 9 popular chromosomal micro-deletion syndromes causing serious symptoms among children, which other techniques still have limited detecting capability. Objective: Evaluate the result of Prenatal BoBs technique in prenatal diagnosis of several chromosomal abnormalities. Subject - Methodology: Prenatal BoBs testing was applied to 189 amniocentesis samples of 17-26 week of gestation with high risk of chromosomal abnormality in Hanoi Obstetrics and Gynecology Hospital from 05/2016 – 02/2017. Aside from Prenatal BoBs technique, karyotyping was also applied. Result: Prenatal BoBs was able to identify 13 cases of chromosomal abnormality (6.93%), among which 09 cases of trisomy 21, 02 cases of trisomy 18, 01 case oftrisomy 13, 01 case of Turner syndrome; which karyotyping provided similar results. There was only 1 case which Prenatal BoBs provided normal result, while karyotyping diagnosed triplody (69, XXX). Conclusion: Prenatal BoBs is a genetic test capable of providing highly accurate results in a rather short time (48h), which able to early diagnose abnormality of chromosome 13, 18, 21 and 23.