2216例高危孕妇羊水细胞染色体核型分析
摘要
目的探讨孕中期高危孕妇羊水细胞染色体核型分析的临床应用价值。方法 2216例孕中期高危孕妇在无菌条件、超声引导下行羊膜腔穿刺抽取羊水,双线培养羊水中脱落的胎儿细胞、收获、G显带,进行染色体核型分析。结果 2216例羊水成功培养2196例,成功率为99.1%,共检出异常核型388例,异常检出率为17.67%,其中21三体193例,检出率为8.78%;18三体61例,检出率为2.78%;13三体11例,检出率为0.5%;性染色体数目异常65例,检出率为2.96%;结构异常53例,检出率为2.41%。检出多态核型100例,检出率为4.55%。结论对高危孕妇行孕中期羊膜腔穿刺是一项安全有效的产前诊断方法,对预防出生缺陷仍具有一定的临床应用价值。
引文
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[10]宋伟,刘晓巍,山丹,等. 6047例高龄孕妇胎儿染色体核型结果分析[J].实用妇产科杂志,2018,(3):190-193.
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[14]Benacerraf BR. The history of the second-trimester sonographic markers for detecting fetal Down syndrome,and their current role in obstetric practice[J]. Prenat Diagn,2010,30(7):644-652.
[2]李瑞,赵鼎,张耀东. 851例新生儿细胞遗传学结=结果分析[J].江西医药,2018,53(7):683-695.
[3]中华人民共和国卫生部.《中国出生缺陷防治报告(2012)》问答[J].中国实用乡村医生杂志,2012,19(20):3-5.
[4]Aypar U,Thorland EC,Hoppman N. Prenatal diagnosis of chromosome abnormalities:past,present,and future[J]. Clinical Chemistry,2013,59(10):1432-1434.
[5]金克勤,程妙鸳,沈双双. 2605份孕中期羊水细胞染色体核型分析[J].中华医学遗传学杂志,2017,34(2):307-309.
[6]马骞,赵军红,朱若男,等. 3827例孕妇胎儿羊水细胞染色体核型研究[J].中华医学遗传学杂志,2017,34(1):144-146.
[7]王丽霞,杨艳,刘璇,等. 9133例孕中期羊水细胞染色体核型分析[J].中国优生与遗传杂志,2018,(8):39-40.
[8]Zhang H,Gao Y,Jiang F,et al. Non-invasive prenatal testing for trisomies 21,18 and 13:clinical experience from 146,958pregnancies[J]. Ultrasound Obstet Gynecol,2015,45(5):530-538.
[9]罗艳梅,胡华梅,徐聚春,等.无创产前基因检测在胎儿染色体非整倍体筛查中的应用研究[J].实用妇产科杂志,2018,(6):464-467.
[10]宋伟,刘晓巍,山丹,等. 6047例高龄孕妇胎儿染色体核型结果分析[J].实用妇产科杂志,2018,(3):190-193.
[11]Ozawa N,Maruyama T,Nagashima T,et al. Pregnancy outcomes of reciprocal translocation carriers who have a history of repeated pregnancy loss[J]. Fertil Steril,2008,90(4):1301-1304.
[12]Practice Bulletin No. 163 Summary:Screening for Fetal Aneuploidy[J]. Obstet Gynecol,2016,127(5):979-981.
[13]Shaffer LG,Rosenfeld JA,Dabell MP,et al. Detection rates of clinically significant genomic alterations by microarray analysis for specific anomalies detected by ultrasound[J]. Prenat Diagn,2012,32(10):986-995.
[14]Benacerraf BR. The history of the second-trimester sonographic markers for detecting fetal Down syndrome,and their current role in obstetric practice[J]. Prenat Diagn,2010,30(7):644-652.