Abnormal Karyotypes Distribution Characteristics and Pregnancy Outcomes of Fetal Sex Chromosome Aneuploidy in 101 Cases
10.3969/j.issn.1671-7414.2024.04.008
- VernacularTitle:101例胎儿性染色体非整倍体异常核型分布特征及妊娠结局分析
- Author:
Xin WU
1
;
Ting QIN
;
Xigui LONG
;
Hongyan ZHANG
;
Linhong SU
;
Xiuqun ZHANG
Author Information
1. 广西壮族自治区人民医院医学遗传与产前诊断中心,南宁 530001
- Keywords:
sex chromosome aneuploidy;
abnormal karyotypes;
pregnancy outcomes;
copy number variation sequencing(CNV-seq)
- From:
Journal of Modern Laboratory Medicine
2024;39(4):40-44,62
- CountryChina
- Language:Chinese
-
Abstract:
Objective To analyze the distribution characteristics of abnormal karyotypes of fetal sex chromosome aneuploidy(SCA)and pregnancy outcomes in 101 fetal cases.Methods A retrospective study was conducted among 7 821 pregnant women who underwent successfully prenatal karyotyping diagnosis at Guangxi Zhuang Autonomous Region People's Hospital from January 2016 to December 2021.All women received amniotic fluid cell culture karyotype analysis and copy number variation sequencing(CNV-seq)detection and 101 cases of SCA detected were analyzed.Results A total of 101 cases were detected by SCA,with a detection rate of 1.29％.Among them,Klinefelter syndrome accounted for 33.66％,superestrogenism syndrome accounted for 17.82％,superandrogenic syndrome accounted for 12.87％,turner syndrome accounted for 10.89％,other aneuploidy abnormalities[including 48,XXXY:1 case;69,XXY(80％)/68,XXY,-22(20％):1 case]accounted for 1.98％,and chimerism accounted for 22.77％.The prenatal indications for 101 cases of SCA were as follows:age ≥ 35 years,high/critical risk of serum biochemical screening,fetal ultrasound abnormalities,abnormalities in non-invasive prenatal testing(NIPT),history of adverse pregnancy and childbirth and other reasons(1 case of cerebral palsy in pregnant women and 4 cases of bilateral thalassemia)accounted for 53.47％(54/101),4.95％(5/101),17.82％(18/101),51.49％(52/101),12.87％(13/101),4.95％(5/101),respectively.Partial cases had multiple prenatal diagnostic indications.Meanwhile,23 fetuses diagnosed with sex chromosome chimerism,of which 22 cases were validated by karyotype and CNV seq,11 pregnant women chose to terminate their pregnancy,with the rest chose to continue pregnancy.Conclusion The combination of prenatal karyotype diagnosis,serological testing,prenatal ultrasound and other prenatal screening methods can help improve the detection rate of SCA,while CNV-seq can provide more clinical evidence for genetic counseling of pregnant women with sex chromosome chimerism.
