颈项透明层增厚胎儿的产前诊断和预后研究

目的 探讨颈项透明层增厚与胎儿染色体异常、严重结构畸形和其他严重异常的关系,了解其在评估胎儿预后中的价值。方法 回顾性分析2008年1月~2014年1月于宜宾市第二人民医院78例妊娠早期11~13+6周NT≥2.5 mm且行产前诊断的单胎的临床资料,按NT厚度将其依次分为3组。第1组(NT 2.5~3.5 mm,34例)、第2组(NT 3.6~4.5 mm,28例)及第3组(NT≥4.6 mm,16例)。统计胎儿染色体核型检测结果,随访胎儿超声筛查结构异常情况及妊娠结局。结果 178例NT增厚胎儿中染色体核型异常22例(28.21%)、结构异常23例(29.49%),其中严重心脏畸形14例(17.95%)。随访率96.15%(75/78)。妊娠结局:引产39例,活产36例,无宫内感染、胎膜早破等妊娠结局,活产36例均无出生缺陷。2三组NT增厚胎儿中染色体异常发生率分别为17.65%、28.57%、50.00%,严重心脏畸形发生率分别为0.00%、21.42%和50.00%,结构异常发生率分别为20.59%、28.57%和50.00%。三组胎儿染色体异常、结构异常及心脏畸形的发生率差异均有统计学意义(P<0.05),且发生率均随NT增厚而升高。3主要染色体异常包括21三体综合征(10.26%)、心脏畸形异常(7.69%)和18三体综合征(3.85%)。结论 NT增厚与胎儿染色体非整倍体和先天性心脏病等不良妊娠结局有关。

Prenatal diagnosis and pregnancy outcome of fetal increasing nuchal translucency

Objective To investigate the relationship between nuchal translucency （NT） increasing thickness and fetal chromosomal abnormalities, severe structure anomalies and other abnormalities, understand its value in assessment of fetal prognosis. Methods 78 cases of singleton fetuses with NT≥2.5 mm in the first trimester 11-13＋6 weeks, and which had invasive prenatal test, were selected and divided into 3 groups according to NT, group 1 （NT 2.5-3.5 mm）, group 2 （NT 3.6-4.5 mm）, group 3 （NT≥4.6 mm）. The result of fetal chromosome and abnormal fetal and pregnancy outcome were retrospectively analyzed. Results①Among the 78 singleton fetuses, 22 cases were diagnosed the chromosomal ab-normalities （28.21%）, 23 cases were structure anomalies （29.49%）, 14 cases were severe cardiac anomalies （17.95%）. Pregnancy outcomes： the followup was 96.15%（75/78）cases, 39 cases were induced labour and 36 cases were live birth, no spontaneous abortions and congenital infections. ②The rates of chromosomal abnormalities were 17.65%, 28.57%, 50.00% among three groups respectively. The rates of severe cardiac anomalies were 0.00%, 21.42%, 50.00%and the rates of structure anomalies were 20.59%, 28.57%, 50.00%respectively. The incidences of chromosomal abnor-malities structure anomalies and cardiac anomalies of three groups were compared, the differences were statistically sig-nificant （P〈 0.05）. And the incidences all increased with fetal NT thickness.③Among the most common chromosomal abnormalities were trisomy 21 （10.26%）, heart deformity （7.69%） and trisomy 18 （3.85%）. Conclusion In cases with increasing NT thickness the frequency of aneuploid and fetal malformation, sespecially heart defects raised. There is relationship between increased NT and chromosomally normal fetuses that eventually develop into healthy neonates.