2023 年第 11 期 第 18 卷

染色体检查结合软指标对早孕期结构异常胎儿围生结局的评估价值

Evaluation value of chromosomal examination combined with soft indexes on perinatal outcome of fetuses with structural abnormality in the first trimester

作者：傅彬1李琴2高嵩2苏莉3

英文作者：Fu Bin1 Li Qin2 Gao Song2 Su Li3

单位：1桂林医学院第二附属医院超声科，桂林541199；2桂林医学院附属医院超声科，桂林541001；3桂林医学院附属医院优生遗传科，桂林541001

英文单位：1Department of Ultrasound the Second Affiliated Hospital of Guilin Medical College Guilin 541199 China; 2Department of Ultrasound Affiliated Hospital of Guilin Medical College Guilin 541001 China; 3Department of Eugenics and Genetics Affiliated Hospital of Guilin Medical College Guilin 541001 China

关键词：染色体检查；超声软指标；早孕期结构异常；鼻骨超声；胎儿围生结局

英文关键词：Chromosomalexamination;Ultrasoundsoftindex;Structuralabnormalitiesinthefirsttrimester;Ultrasoundofnasalbone;Fetalperinataloutcome

• 摘要：

• 目的  探讨染色体检查结合软指标对早孕期结构异常胎儿围生结局的评估价值。方法  选取2019年1月至2021年10月在桂林医学院第二附属医院及桂林医学院附属医院进行产前超声筛查颈项透明层（NT）增厚的386例孕妇作为研究对象，均为单胎妊娠，根据胎儿超声软指标异常情况分为孤立性NT增厚和NT增厚合并其他软指标异常或结构异常。分析超声软指标异常结果和染色体核型分布结果。随访胎儿妊娠结局。结果386例早孕超声软指标异常胎儿中孤立性NT增厚300例（77.7%），NT增厚合并其他软指标异常或结构异常86例（22.3%），主要包括合并鼻骨缺如19例（22.1%）、合并颜面部异常14例（16.3%）、合并心脏畸形12例（14.0%）等。386例早孕超声软指标异常胎儿中染色体异常79例（20.5%），以三体异常为主（62例，78.5%），其余为微缺失、微重复、47，XYY、Turner综合征等17例，占染色体异常的21.5%。NT增厚合并其他软指标异常或结构异常胎儿染色体异常率显著高于孤立性NT增厚胎儿染色体异常率［60.5%（52/86）比9.0%（27/300）］，差异有统计学意义（P＜0.05）。79例合并染色体异常中65例引产，5例胎死宫内，9例继续妊娠至分娩。结论  染色体检查结合超声软指标可早期发现染色体异常胎儿，提高染色体异常胎儿检出率，预测胎儿不良围生结局，对提高妊娠质量具有较高价值。

• Objective  To explore the evaluation value of chromosome examination combined with soft indexes on the perinatal outcome of fetuses with structural abnormalities in the first trimester. Methods  Totally 386 pregnant women who underwent prenatal ultrasound screening for nuchal translucency (NT) thickening at the Second Affiliated Hospital of Guilin Medical College and Affiliated Hospital of Guilin Medical College from January 2019 to October 2021 were selected as the study subjects, all of whom were single pregnancies. According to fetal soft index abnormalities, they were divided into isolated NT thickening and NT thickening combined with other soft index abnormalities or structural abnormalities. Analyze the abnormal Results   of ultrasound soft indexes and the distribution of chromosome karyotypes. Fetal and pregnancy outcomes were followed up. Results  Among 386 fetuses with abnormal ultrasound soft indicators in the first trimester, 300 cases (77.7%) had isolated NT thickening, and 86 cases (22.3%) had NT thickening combined with other soft index abnormalities or structural abnormalities, mainly including 19 cases (22.1%) with nasal bone deficiency, 14 cases (16.3%) with facial abnormalities, and 12 cases (14.0%) with cardiac abnormalities. Among the 386 cases of fetuses with ultrasound soft index abnormalities in the first trimester, 79 cases (20.5%) had chromosomal abnormalities, with trisomy abnormalities being the main type (62 cases, 78.5%). The remaining 17 cases were microdeletions, microduplications, 47, XYY, Turner syndrome, accounting for 21.5% of chromosomal abnormalities. The rate of fetal chromosomal abnormalities in NT thickening combined with other soft index abnormalities or structural abnormalities was significantly higher than that in isolated NT thickening fetuses ［60.5%(52/86) vs 9.0%(27/300)］(P＜0.05). Among the 79 cases combined chromosomal abnormalities, 65 cases were induced labor, 5 cases died in the uterus, and 9 cases continued pregnancy until delivery. Conclusion  Chromosomal examination combined with soft indexes can detect chromosomally abnormal fetuses early, improve the detection rate of chromosomally abnormal fetuses, predict adverse fetal perinatal outcome, and have a good evaluation value for improving the quality of pregnancy.