摘要
目的探讨胎儿染色体微核型分析(chromosomal microarray analysis,CMA)及核型分析在NT增厚胎儿产前诊断中的应用价值。方法选取因胎儿颈项透明层增厚,并接受侵入性产前诊断的49例病例进行分析探讨。所有病例均进行CMA检测及常规G显带核型分析,电话随访妊娠结局及胎儿出生后的生长发育状况。结果49例标本中,致病性染色体异常11例,其中非整倍体9例(21三体6例,18三体1例,性染色体异常2例),致病性拷贝数变异(pathogenic Copy Number Variations,pCNVs)2例。单纯NT增厚27例,致病性染色体异常4例;NT增厚合并其他超声异常10例,致病性染色体异常4例;NT增厚合并其他异常(包括高龄,不良孕产史及血清学筛查异常)12例,致病性染色体异常3例。结论孕早期通过超声监测胎儿NT厚度具有重要的临床价值,对NT增厚的胎儿进行产前诊断时联合运用染色体核型分析和微阵列分析的检测方法可以有效提高染色体异常的检出率。
Objective:To explore the application value for fetus with increased nuchal translucency(NT)by genomewide high resolution chromosomal microarray analysis(CMA)combined with karyotype anlysis.Methods:A total of 49 fetuses with NT≥2.5mm in the first trimester(11-13+6 weeks)were analyzed and all the pregnant women performed invasive prenatal diagnosis.Single nucleotide polymorphism microarray(SNP)detection and G-band karyotype analysis were used combined with the clinical data.The fetal development were regularly inspected,follow up were conducted with outcomes of pregnancy and fetal postnatal conditions.Results:Among the 49 cases,there were 11 fetuses with pathogenic chromosome abnormalities,including 9 cases with chromosome aneuploid and 2 cases with pathogenic copy number variations(pCNVs).The incidence of pathogenic chromosome abnormalities is 14.8%(4 cases)in the fetuses who showed NT thickening only(27 cases).40.0%(4cases)in the pregnant women who have bothe NT thickening and ultrasonography abnormal(10cases).12 cases showed NT thickening and other abnormal(include advanced maternal age,abnormal pregnancy or serum screening),the abnormal rate is 25.0%(3 cases).Conclusion:The detection of NT in the first trimester has important value in clinical practice.The combination of chromosome karyotype and CMA in the prenatal diagnosis plays an important role in the prenatal diagnosis of fetuses with abnormal NT and can improve the detect rate of microdeletion/microduplication.
作者
黎昱
宋婷婷
徐盈
党颖慧
万陕宁
张建芳
LI Yu;SONG Ting-ting;XU Ying;DANG Ying-hui;WAN Shan-ning;ZHANG Jian-fang(Department of Obstetrics and Gynecology,The First Affiliated Hospital of Air Force Medical University,Shanxi Xi'an,710032)
出处
《中国优生与遗传杂志》
2019年第10期1166-1168,共3页
Chinese Journal of Birth Health & Heredity
关键词
T异常
染色体微阵列分析
染色体核型分析
产前诊断
Nuchal translucenc
Chromosomal microarray analysis
Chromosome karyotype
Prenatal diagnosis
作者简介
通讯作者:张建芳。
