摘要
为分析荧光定量聚合酶链反应(QF-PCR)检测胎儿性染色体非整倍体(SCA)的结果及性染色体不分离发生的亲源性及发生时期。采用回顾性研究,收集2015年1月至2020年12月在广州市妇女儿童医疗中心产前诊断中心同时经QF-PCR检测及染色体核型分析确定为SCA的385例样本的临床资料。统计SCA样本类型及产前诊断指征,通过对比产前诊断样本与孕妇样本的短串联重复序列(STR)分析非嵌合型性染色体非整倍体的染色体不分离发生的亲源性和发生时期。结果显示,(1)非嵌合型SCA样本324例,其中45,XO 113例(113/324,34.9%),47,XXY 118例(118/324,36.4%),47,XXX 48例(48/324,14.8%),47,XYY 45例(45/324,13.9%)。45,XO病例在绒毛样本中检出68例(68/113,60.2%),其他SCA样本在羊水样本中检出179例(179/217,82.5%)。嵌合型SCA样本61例,其中含有45,XO嵌合的样本有58例(58/61,95.1%)。(2)45,X病例较常见的产前诊断指征是水囊瘤(53/113,46.9%)及NT增厚(41/113,36.3%),而其他类型的SCA最常见的指征是无创产前检测(NIPT)高风险(170/272,62.5%)。(3)45,XO样本中,唯一的1条X染色体为母亲来源的有88例(88/113,77.9%),父亲来源25例(25/119,22.1%)。47,XXY样本中,染色体不分离发生在卵细胞减数分裂Ⅰ期(MⅠ)47例(47/118,39.8%),发生在精细胞MⅠ的有51例(51/118,43.2%),发生在卵细胞减数分裂Ⅱ期(MⅡ)有20例(20/118,16.9%)。47,XXX样本中,X染色体不分离发生在卵细胞MⅠ的有29例(29/48,60.4%),发生在卵细胞MⅡ期的有15例(15/48,31.3%),染色体不分离发生在精细胞MⅡ的有4例(4/48,8.3%)。综上,非嵌合型45,XO主要在早孕期有B超异常进行绒毛穿刺取样进行确诊,其他SCA病例主要通过无创产前检测(NIPT)结果异常而进行羊膜腔穿刺进行确诊。不同类型的SCA染色体不分离发生的亲源性和时期不同。
To study the parental origin and cell stage of nondisjunction in sex chromosome aneuploidies.Retrospectiving and analyzing the results of 385 cases of SCA confirmed by QF-PCR and karyotype analysis in the prenatal diagnosis center of Guangzhou Women and Children Medical Center from January 2015 to December 2020.The types of samples and prenatal diagnosis indications were analyzed.The parental origin and cell stage of nondisjunction in sex chromosome aneuploidies analyzed by comparing the short tandem repeat(STR)peak patterns of samples from fetuses and maternal peripheral blood.The results show that(1)There were 324 cases of nonmosaic SCA,113 cases(113/324,34.9%)were 45,XO,118 cases(118/324,36.4%)were 47,XXY,48 cases(48/324,14.8%)were 47,XXX and 45 cases(45/324,13.9%)were 47,XYY.68(45/324,60.2%)cases of 45,X were detected in villus samples.The other SCA cases were mainly detected in amniotic fluid samples.There were 61 mosaic SCA samples,58(58/61,95.1%)of mosaic SCA samples were mosaic 45,X.(2)The top two indications of 45,X cases are increased nuchal translucency(53/113,46.9%)and fetal cystic hygroma(41/113,36.3%),while the most common indication of other types of SCA was high risk of NIPT(170/272,62.5%).(3)Among 45,X cases,there were 88 cases(88/113,77.9%)inherit their single X chromosome from their mother and 25 cases(25/119,22.1%)from their father.In 47,XXY samples,47 cases(47/118,39.8%)of chromosome nondisjunction occurred in meiosis stageⅠof oocytes,51 cases(51/118,43.2%)occurred in meiosis stageⅠof spermatocytes,and 20 cases(20/118,16.9%)occurred in meiosis stageⅡof oocytes.Among 47,XXX samples,29 cases(29/48,60.4%)of X chromosome nondisjunction occurred in meiosis stageⅠof oocytes,15 cases(15/48,31.3%)occurred in meiosis stageⅡof oocytes,and 4 cases(4/48,8.3%)occurred in meiosis stageⅡof spermatocytes.In summary,the cases of 45,X were mainly diagnosed by villous samples for abnormal ultrasound findings.The other cases of SCA were mainly diagnosed by amniocentesis samples for abnormal NIPT resu
作者
李发涛
李焱
汤雪薇
易翠兴
韩瑾
杨昕
廖灿
Li Fatao;Li Yan;Tang Xuewei;Yi Cuixing;Han Jin;Yang Xin;Liao Can(Prenatal Diagnosis Center,Guangzhou Women and Children′s Hospital,Guangzhou 510623,China)
出处
《中华预防医学杂志》
CAS
CSCD
北大核心
2022年第3期360-364,共5页
Chinese Journal of Preventive Medicine
关键词
性染色体非整倍体
染色体不分离
荧光定量聚合酶链反应
产前诊断
Sex chromosome aneuploidies
Chromosome nondisjunction
Quantitative fluorescent polymerase chain reaction
Prenatal diagnosis
