孕15~20＋6周产前超声筛查联合孕妇血清学筛查提高胎儿染色体异常检出率的临床研究

目的：评价产前超声筛查联合孕妇血清学筛查对提高胎儿染色体异常检出率的临床价值。方法选择于孕15~20＋6周已行孕妇血清学筛查且结果提示有21-三体和（或）18-三体临界风险的628例胎儿行超声筛查，采用经腹部超声对胎儿鼻骨（NB）和颈部皮肤皱褶（NF，中孕期超声软指标）进行检测，观察有无鼻骨发育不良、有无颈部皮肤皱褶增厚（＞6 mm为增厚）及有无其他超声软指标异常，对鼻骨发育不良及颈部皱褶增厚者进行羊水穿刺染色体核型分析。结果产前超声筛查的628例胎儿中发现鼻骨皱发育不良6例（0.96%，6/628），其中1例合并颈部皮肤皱褶增厚，2例合并肠道回声增强，1例合并脉络膜囊肿，1例合并左心室内高回声；6例胎儿均行羊水穿刺染色体核型分析，2例为21-三体（33.3%，2/6），余4例染色体未见明显异常。结论产前超声筛查联合孕妇血清学筛查可提高染色体临界风险胎儿染色体异常的检出率。

The clinical value of prenatal ultrasonography combined with maternal serology screening for chromosomal abnormality in 15 to 20+6 gestational weeks

Objective To evaluate the clinical value of prenatal ultrasonography combined with maternal serology screening for chromosomal abnormality in 15 to 20＋6 gestational weeks.MethodsSix hundred and twenty-eight pregnant women （628 fetuses） in 15 to 20＋6 gestational weeks were selected to undergo prenatal ultrasonography, who were in critical risk of trisomy 21 or trisomy 18 by maternal serology screening. Transabdominal ultrasonography were performed and fetal nasal bone and nuchal fold were detected. Those who had nasal bone hypoplasia, thickened nuchal fold （NF〉6 mm） and other abnormal fetal soft markers underwent amniocentesis for karyotyping analysis. ResultsThere were 6 cases of nasal bone hypoplasia （0.96%, 6/628）, including one case of thickened nuchal fold, two cases of echogenic bowel, two cases of choroid plexus cysts and 1 case of echogenic cardiac focus. All these 6 cases underwent amniocentesis and 2 were trisomy 21 （33.3%, 2/6）. The other 4 cases had no significant chromosomal abnormality.ConclusionsPrenatal ultrasonography may improve the detection rate of chromosomal abnormality for those pregnant women who are in critical risk of chromosomal abnormality prompted by serology screening. But invasive procedures are still needed to verify the chromosomal abnormality.