孕妇早孕期超声筛查联合绒毛染色体核型分析的临床应用

目的探讨早孕期超声异常联合绒毛染色体核型分析的临床应用价值，同时分析各种超声异常指标的染色体异常率。方法对134例早孕期胎儿超声筛查异常的病例，行超声介导下绒毛活检术及G显带染色体核型分析。根据胎儿异常超声征象的类型，分为单纯软指标异常组（95例）和结构异常组（39例）两组。比较两组间以及各个超声异常的染色体异常率。结果134例绒毛标本中均成功行G显带染色体核型分析。共检出异常核型38例，染色体异常率为28．4％（38／134）。染色体异常主要为三体和单体异常，共检出29例，占异常核型的76．3％（29／38）。结构异常组染色体异常率为（46．2％，18／39）较单纯软指标异常组（21．1％，20／95）高，两者的差异具有统计学意义（P〈0．05）。单纯软指标异常组中胎儿颈项透明层（nuchal translucency，NT）增厚及鼻骨缺失占绝大部分，染色体异常率分别为28．1％（20／65）和19．4％（6／31）。多发软指标异常胎儿染色体异常率（66．7％，12／18）较单纯软指标异常胎儿（10．4％，8／77）高，两者的差异具有统计学意义（P〈0．05）。超声结构异常组中以胎儿多发畸形和胎儿水肿综合征为主，染色体异常率分别为57％（8／14）和87．5％（7／8）。结论早孕期胎儿超声筛查异常对染色体异常有较高的预测价值，其中超声结构异常胎儿染色体异常率高于单纯软指标异常胎儿。对超声筛查异常胎儿行绒毛染色体核型分析可在早孕期有效地诊断胎儿染色体异常。

Clinical application of chorionic villi karyotype analysis after abnormal first-trimester ultrasonographic findings.

Objective： To investigate the clinical value of chorionic villi karyotype analysis after abnormal first-trimester （11-13＋6 week） ultrasonographic findings in early prenatal diagnosis of fetal chromosome abnormalities, and compare incidence rate of chromosome abnormalities among different ultrasonographic indicators. Methods： Chorionic villi karyotype analysis was performed in all 134 cases with abnormal first-trimester ultrasonographic findings. According to the types of ultrasonographic findings, 134 cases were classified into two groups, pure ultrasound soft markers group （95 cases） and structural malformations group （39 cases） . The incidence rate of each ultrasonographic indicator and discrepancy between these two groups were analyzed. Results： G-banding karytyping after chorionic villi cell culture was successfully performed on all 134 cases. Of 134 cases, fetal chromosome abnormalities were found in 38 cases and the incidence rate of chromosome abnormalities was 28.4% （38/134） . Among 38 cases with chromosome abnormalities, chromosomal trisomy and monosomy were the main abnormalities, accounting for 76.3% （29/38） of abnormal karyotypes. The incidence rate of chromosome abnormalities in structural malformation group （46.2%, 18/39） was higher than that in pure ultrasound soft markers group （ 10.4%, 8/77） . The difference is statistically significant （P〈0.05） . The most common soft markers were increased nuchal translucency and absence of nasal bone in pure ultrasound soft markers group, the incidence rate of chromosome abnormalities of the former was 28.1% （20/65） and the later was 19.4% （6/31） . And The incidence rate of chromosome abnormalities in fetuses with multiple ultrasound soft markers （66.7%, 12/18） was higher than that in fetues with single ultrasound soft markers （10.4%, 8/77） . The difference is statistically significant （P〈0.05） . The most common structural malformations were multiple malformations and hydrops fetalis in structural