妊娠早期胎儿颈项透明层增厚的妊娠风险与遗传咨询

Clinical Significance of Nuchal Translucency Thickness by Color Doppler Ultrasound During 11-13+6 Gestational Weeks

目的探讨孕龄为11～13+6孕周经腹超声检查提示胎儿颈项透明层(NT)增厚的妊娠风险,为遗传咨询积累有价值的临床资料。方法选择2008年3月至2011年6月于本院接受产前检查的孕龄为11～13+6孕周者,经腹彩色多普勒超声检查提示胎儿NT增厚的孕妇47例为研究对象,对其进行羊水穿刺术以了解胎儿染色体核型。对胎儿染色体核型正常者进一步行胎儿系统彩色多普勒超声及超声心动图检测(本研究遵循的程序符合本院人体试验委员会制定的伦理学标准,得到该委员会批准,并于受试对象签署临床研究知情同意书)。结果本组47例NT增厚孕妇中,染色体异常发生率为14.89%(7/47)。其余40例为胎儿染色体核型正常的NT增厚孕妇,其胎儿的彩色多普勒超声检查结果的异常率为15.00%(6/40)。其中,33.33%(2/6)为心脏结构异常。NT增厚且胎儿染色体正常的胎儿超声异常率(15.00%,6/40)与同期在本院产前检查NT正常的胎儿彩色多普勒超声检查结果的异常率(2.13%,40/1875)比较,差异有统计学意义(P<0.05)。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密切相关。

Objective To study the clinical significance of increment of nuchal translucency thickness （NT） at 11-13^＋6 gestational weeks, and provide information for genetic counseling. Methods Increment NT of 68 pregnant women collected by prenatal ultrasonic B in the Huibei Maternal and Child Health Hospital from March 2008 to June 2011, 47 of which with increment of NT were suggested to perform amniocentesis chromosomal karyotypes analysis were under followed-up. The study protocol was approved by the Ethical Review Board of Investigation in Human Being of Hubei Maternal and Child Health Hospital. Informed consent was obtained from all participates. Results The karyotype was abnormal in 14.89~/oo （7/ 47） of the cases and normal in 85. 11~. In cases with normal karyotype, 15. 00% （6/40） presented structural abnormalities, 33.33~ （2/6） of which consisted of heart defects. There had significant difference of abnormal rate by prenatal ultrasound between normal karyotype baby with increased NT （15.00 ~, 6/40） and normal NT baby （2. 13~ ,40/1875）. Conclusions In cases with increased NT thickness, the frequency of aneuploid and fetal malformations, especially heart defects raised. There is a large group of increased NT with chromosomally normal fetuses that eventually develop into healthy neonates.