胎儿NT增厚与染色体异常及妊娠结局的相关分析

Correlation analysis of fetuses with increased nuchal translucency thickness and chromosomal abnormalities and pregnancy outcome

目的 探讨11~13^(+6)孕周胎儿NT增厚与染色体异常、结构异常及妊娠结局的相关性。方法 回顾性分析2018年5月至2020年9月在西北妇女儿童医院医学超声中心的211例11~13^(+6)孕周胎儿NT增厚的病例,统计胎儿染色体检查结果及超声结构异常情况,并随访妊娠结局及胎儿出生后情况。结果 211例NT增厚的胎儿,不良妊娠结局的发生率为42.18%(89/211)。211例中49例因胎死宫内、明显结构畸形等原因选择终止妊娠,162例继续妊娠并行染色体检查,检出染色体异常31例,检出率为19.14%。131例染色体正常胎儿,其中7例超声检查发现结构畸形,4例终止妊娠,3例继续妊娠。染色体正常且超声结构未见明显异常共124例,其中1例出生后查出16号染色体片段缺失,1例出生后为低位肛门闭锁,其余122例胎儿出生后随访情况良好。合并孕妇高龄因素的染色体异常率为50.00%,未合并孕妇高龄因素的染色体异常率为13.23%,差异有统计学意义(χ=16.760,P<0.05)。染色体异常合并结构畸形发生率为35.48%,染色体正常合并结构畸形发生率为5.34%,差异有统计学意义(χ=20.110,P<0.05)。结论 NT增厚胎儿染色体异常发生率增高,尤其合并孕妇高龄因素、胎儿超声结构异常情况时增高更明显;染色体正常时,单纯NT增厚且不伴有明显结构异常时,妊娠结局大多良好。

Objective To investigate the correlation of fetuses with increased nuchal translucency(NT)thickness with chromosomal abnormalities,structural abnormalities and pregnancy outcome at 11-13^(+6) gestational weeks in the first trimester.Methods A retrospective analysis was conducted on 211 cases with increased NT at 11-13^(+6) gestational weeks in the first trimester in the Medical Ultrasound Center of Northwest Women's and Children's Hospital,from May 2018 to September 2020.Fetal chromosomal results and ultrasound structural abnormalities were recorded and the followed up was done for the pregnancy outcome and postnatal fetal condition.Results The incidence of adverse pregnancy outcomes was 42.18%(89/211)in 211 fetuses with increased NT.Among the 211 cases,49 cases terminated the pregnancy due to intrauterine death and obvious structural malformations,and 162 cases continued the pregnancy and underwent the chromosomal examination.31 cases of chromosomal abnormalities were detected,with a detection rate of 19.13%.131 fetuses were noted with normal karyotype,of which 7 cases were detected with structural abnormalities in ultrasound detection,and 4 cases terminated and 3 cases continued the pregnancy.A total of 124 cases had normal karyotypes and no obvious abnormalities in the ultrasound structure,of which 1 case had chromosome 16 fragment deletion detected and 1 case had low anal atresia after the birth and the remaining 122 fetuses were in good condition during the follow up.The incidence of chromosomal abnormalities was 50.00% for women at the advanced maternal age and 13.23% for those at child-bearing age,with a statistically significant difference(χ^(2)=16.760,P<0.05).Moreover,the incidence of chromosomal abnormalities combined with karyotypic abnormalities was 35.48%and the incidence of normal chromosome combined with karyotype incidence was 5.34%,and the difference between the two was statistically significant(χ^(2)=20.110,P<0.05).Conclusion Fetuses with increased NT have an increased incidence of chromosomal abnormalities,particularly with regard to the advanced maternal age and abnormal fetal ultrasound structures.In addition,most fetuses with normal karyotype,isolated increased NT generally exhibit good pregnancy outcomes.