Comparison of performance of two prenatal diagnostic techniques for the detection of chromosomal mosaicisms in amniocytes.
10.3760/cma.j.cn511374-20210427-00367
- Author:
Weijia SUN
1
;
Jiasun SU
;
Tiansheng LIU
;
Hongqian HUANG
;
Luping OUYANG
;
Linlin WANG
;
Jiao LI
;
Jingsi LUO
Author Information
1. Maternity and Child Health Care Hospital of Guangxi Zhuang Autonomous Region, Nanning, Guangxi 530021, China. luojingsi0815@126.com.
- Publication Type:Journal Article
- MeSH:
Aneuploidy;
Chromosome Aberrations;
Female;
Humans;
In Situ Hybridization, Fluorescence;
Mosaicism;
Pregnancy;
Prenatal Diagnosis/methods*;
Retrospective Studies;
Sex Chromosome Aberrations
- From:
Chinese Journal of Medical Genetics
2022;39(8):842-847
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To assess the value of chromosomal karyotyping analysis and single nucleotide polymorphism-based microarray (SNP-array) for the detection of chromosomal mosaicisms in amniotic fluid samples.
METHODS:Seventy four pregnant women with fetal mosaicisms detected by both methods were retrospectively analyzed.
RESULTS:Among the 74 mosaicisms, 12 were pseudo and 62 were true mosaicisms, which included 1 Robertsonian translocation, 3 deletions, 4 supernumerary markers, 19 autosomal aneuploidy mosaicisms, 30 sex chromosome aneuploidy mosaicisms and 5 isometric chromosome mosaicisms.
CONCLUSION:Chromosome karyotyping analysis and SNP-array have their own advantages and limitations for the diagnosis of mosaicisms. When the two methods have yielded inconsistent results, fluorescence in situ hybridization may be used for further verification.
