Clinical applications of noninvasive prenatal testing

Abstract

Objective To explore the noninavasive prenatal genetic testing technology in the role of screening for chromosome aneuploidy. Methods Massively parallel sequencing was applied to analyze fetal chromosome sequence copy numbers in seventy-four pregnant women with clinical indications for prenatal diagnosis.According to the different clinical indications, four groups were divided.The rate of high risk of aneuploidy in each group was counted.High risk of aneuploidy was showed in eleven cases; fetal karyotyping was also carried out on amniocentesis samples. Results The rate of high risk of fetal chromosome aneuploidy was 10.5%(4/38) in advanced maternal age group, 17.4%(4/23) in the increasing-risk maternal triple-marker screening test group, 30.0% (3/10) in the abnormal ultrasound finding group, 0.0% (0/1) for family history of chromosomal abnormality.The total rate of high risk of aneuploidy in all samples was 14.9% (11/74). In eleven high risk cases of noninvasive prenatal testing, the results of noninvasive prenatal testing of nine cases were accordant with fetal karyotyping, but two cases were false positive. Conclusion Noninvasive prenatal testing is an effective method for screening fetal aneuploidy.It has a broad clinical application prospect. Key words: Noninvasive prenatal testing; Fetal aneuploidy; Prenatal diagnosis