【摘要】 双胎妊娠胎儿染色体非整倍体疾病的发生率较单胎妊娠高,同时其筛查受到很多因素的影响。双胎妊娠的合子性质非常重要,直接影响风险率的计算模式,临床实践中多以妊娠早期绒毛膜性间接判断。目前双胎妊娠染色体非整倍体疾病筛查方案集中在妊娠早期胎儿颈部半透明层厚度(nuchal translucency,NT)筛查、妊娠早期联合筛查(NT+血清学筛查)、妊娠中期血清学筛查以及利用无创产前检测技术(noninvasive prenatal test,NIPT)进行胎儿染色体非整倍体疾病筛查。这些方案主要涉及染色体疾病中发病率较高的21-三体综合征和18-三体综合征。考虑到检出率、假阳性率以及经济学效应,妊娠早期联合筛查为目前双胎妊娠染色体非整倍体疾病筛查的主要方案,对近年来双胎妊娠染色体非整倍体产前筛查研究进展进行综述。更多还原

【Abstract】 The incidence of aneuploidy in twin pregnancy women is higher than singleton pregnancies women, and the prenatal screening effect is influenced by many factors. Zygosity in twin pregnancy is very important, which directly affects the risk calculation models. Normally, we use ultrasound to detect fetal human chorionic. It can indirectly judge the zygosity of twin pregnancy. Currently, the fetal chromosomal aneuploidy screening in twin pregnancy is mainly concentrated in the first trimester nuchal translucency thickness(NT) screening, first trimester combined screening(NT + serum screening),second trimester serum screening, as well as the chromosomal aneuploidy screening by the noninvasive prenatal test(NIPT). These programmes are mainly involved in chromosomal diseases with high incidence of 21-trisomy syndrome and 18-trisomy syndrome. Taking into account the detection rate, the false positive rate and the economic effects, the first trimester combined screening is the main application programme. This article gives an overview of the aneuploidy prenatal screening with twin pregnancy.更多还原