The value of noninvasive prenatal screening for the detection of fetal chromosome 16 aneuploidy
10.3760/cma.j.issn.1003-9406.2020.02.008
- VernacularTitle:无创产前筛查对于检测胎儿16号染色体非整倍体的价值
- Author:
Ting WANG
1
;
Jing WU
;
Jiexia YANG
;
Jian LU
;
Li GUO
;
Li DU
;
Aihua YIN
Author Information
1. 广东省妇幼保健院医学遗传中心
- Keywords:
Non-invasive prenatal testing;
Chromosome 16 aneuploidy;
Prenatal diagnosis;
Positive predictive value
- From:
Chinese Journal of Medical Genetics
2020;37(2):135-138
- CountryChina
- Language:Chinese
-
Abstract:
Objective To assess the value of non-invasive prenatal screening (NIPS) for the detection of fetal chromosome 16 aneuploidy through multi-method verification and follow-up of pregnancy outcomes.Methods From January 2016 to December 2017,7972 pregnant women with singleton pregnancies accepted the NIPS test after 10th gestational week with informed consent.Those with fetal chromosome 16 abnormality suggestive by the NIPS test were subjectedto prenatal diagnosis including chromosomal karyotyping and chromosomal microarray analysis (CMA).Results Of the 7972 pregnant women tested by NIPS,16 (0.2％) were predicted to have fetal chromosome 16 abnormality.The average age of the 16 pregnant women was 33.5 + 5.24,and the average gestational week was 19.88 ± 2.47.Chromosomal karyotyping verified that 3 fetuses had mosaicisms and 1 carried pericentric inversion of chromosome 9,which yielded a positive predictive value (PPV) of 18.8％.CMA has detected 7 fetuses with genomic abnormalities,which yielded a PPV of 43.8％.Eleven of the 16 women (68.8％) have given birth to healthy babies.Conclusion For pregnant women with a high risk of chromosome 16 aneuploidy suggested by NIPS,the prognosis of fetus should be evaluated by multiple methods.Compared with conventional karyotyping analysis,molecular methods such as CMA are far superior.
