Cytogenetic analysis of an amniotic sample with X chromosome abnormality signaled by non-invasive prenatal testing.
10.3760/cma.j.cn511374-20201022-00742
- Author:
Weiguo ZHANG
1
;
Weiqing ZHANG
;
Feiyan PAN
;
Dongying WANG
Author Information
1. Taizhou Hospital of Zhejiang Province, Taizhou, Zhejiang 317000, China. zhangwgtzhospital@163.com.
- Publication Type:Journal Article
- MeSH:
Chromosome Aberrations;
DNA Copy Number Variations;
Female;
Humans;
In Situ Hybridization, Fluorescence;
Pregnancy;
Prenatal Diagnosis;
X Chromosome
- From:
Chinese Journal of Medical Genetics
2021;38(6):573-576
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To determine the chromosomal karyotype of a fetus with copy number variation (CNV) of the X chromosome signaled by non-invasive prenatal testing (NIPT).
METHODS:NIPT was performed on the peripheral blood sample taken from the pregnant women. Amniotic fluid and cord blood samples were subjected to conventional G banded karyotyping, and were further analyzed by high-throughput sequencing for chromosome microdeletion/microduplication. The results were then verified by fluorescence in situ hybridization (FISH) on metaphase cells.
RESULTS:The NIPT test of pregnant women suggested low risk for 21-trisomy, 18-trisomy, and 13-trisomy, whilst indicated the number of chromosome X to be low. The G banded karyotype of the amniotic fluid and cord blood cells was 46,XX. The result of high-throughput sequencing chromosome microdeletion/microduplication detection was seq[hg19](X)× 1, (Y)× 2. FISH showed a clear red signal at each end of a whole chromosome, and a green signal on the other chromosome, with a karyotype of 46,X,ish idic(Y) (q11.23) (SRY++, DXZ1+). C banding showed that there is a dense and a slightly loose centromere at both ends of the Y chromosome, and the parachromatin region was missing. The karyotype of amniotic fluid and cord blood cells was finally determined to be 46,X, pus idic(Y) (q11.23).
CONCLUSION:For chromosome anomalies suggested by auxiliary report of NIPT, conventional karyotyping combined with high-throughput sequencing for chromosome microdeletion/microduplication should be adopted for the prevention and reduction of the rate of chromosome microdeletion/microduplication syndromes.
