产前超声及无创基因筛查诊断胎儿性染色体异常

目的 探讨超声及无创产前基因筛查（NIPT）诊断胎儿性染色体异常的价值。方法 回顾性分析8 792名高危孕妇，分析产前超声及NIPT对胎儿性染色体异常的检出率，观察性染色体异常胎儿妊娠结局。结果 共检出144胎（144/8 792，1.64%）性染色体异常胎儿。其中性染色体数目异常139胎（139/8 792，1.58%），包括45，X（Turner综合征）32胎、45，X嵌合体22胎、47，XXY（Klinefelter综合征）44胎、47，XXY嵌合体3胎、47，XXX 23胎、47，XYY 11胎、其他数目异常3胎及45，X15]/46，XX40]男性性反转1胎；性染色体结构异常5胎（5/8 792，0.06%）。超声检出73胎（73/144，50.69%）异常。77胎接受NIPT筛查，其中75胎（75/77，97.40%）性染色体异常。32胎45，X胎儿中，31胎超声可见异常，其中28胎表现为颈部水囊瘤，后均引产；112胎其他类型性染色体异常胎儿中，42胎（42/112，37.50%）继续妊娠。结论 NIPT对检出性染色体异常具有重要价值；产前超声筛查发现颈部水囊瘤时，应高度警惕45，X。

Prenatal ultrasound and noninvasive DNA testing in diagnosis of fetal sex chromosome abnormalities

Objective To investigate the value of ultrasound and noninvasive prenatal DNA testing (NIPT) in diagnosis of fetal sex chromosome abnormalities. Methods Chromosomal data of prenatal diagnosis of 8 792 high-risk pregnant women were retrospectively analyzed. The detection rate of fetal chromosomal abnormalities of ultrasound and NIPT was analyzed, and the pregnancy outcomes of fetuses with sexual chromosome abnormalities were observed. Results There were 144 fetuses (144/8 792, 1.64%) with abnormal sex chromosomes, 5 (5/8 792, 0.06%) with abnormal chromosome structures and 139 with abnormal number of sex chromosomes (139/8 792, 1.58%), including 32 with 45, X (Turner syndrome), 22 with 45, X chimera, 44 with 47, XXY (Klinefelter syndrome), 3 with 47, XXY chimera, 23 with 47, XXX, 11 with 47, XYY, 3 with other abnormal of numbers and 1 with 45, X15]/46, XX40] male sexual reversal. Among 144 fetal chromosomal abnormalities, 73 (73/144, 50.69%) were detected with ultrasound. Totally 77 fetuses were screened by NIPT, and 75 (75/77, 97.40%) sexual chromosome abnormalities were detected. Among 32 fetuses with 45, X, 31 were found with structural abnormalities by ultrasound including 28 cystic hygromas, and 32 were then induced, while in 112 fetuses with other type of sex chromosome abnormalities, pregnancy was chosen to be continued in 42 (42/112, 37.50%) cases. Conclusion NIPT is of great value in detection of sex chromosome abnormalities. 45, X should be highly suspected when cystic hygroma is found in prenatal ultrasound screening.