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目的了解三倍体综合征的临床特点,并探讨产前筛查、产前诊断、胎儿彩色多普勒技术在诊断三倍体综合征中的临床应用。方法分析9例(本院4例,文献报道5例)三倍体综合征胎儿孕妇影像学资料、血清学产前筛查、产前诊断资料及临床表现,并复习相关文献资料。结果 9例三倍体胎儿影像学检查均提示胎儿有严重不对称的胎儿宫内生长受限或/和多发畸形,血清学产前筛查结果异常。结论应提高对本病的认识,如发现胎儿有严重宫内生长受限、血清学产筛指标明显异常,无论是否为高龄均要对其行产前诊断,血清学产前筛查与超声联合筛查有助于胎儿染色体病的检出。
Objective To understand the clinical features of triploid syndrome and to explore the clinical application of prenatal screening, prenatal diagnosis and fetal color Doppler in the diagnosis of triploidy syndrome. Methods Nine pregnant women (4 in our hospital and 5 in the literature) were analyzed for fetal imaging, prenatal serological screening, prenatal diagnosis and clinical manifestations, and review of relevant literature. Results All the 9 cases of triploid fetus showed abnormal fetus fetal growth and / or multiple fetal malformations, and serological prenatal screening was abnormal. Conclusions The understanding of this disease should be raised. If the fetus is found to have severe intrauterine growth restriction and the index of serological screening is obviously abnormal, no matter whether it is advanced age, prenatal diagnosis, serological prenatal screening and ultrasound combined Screening helps to detect fetal chromosomal disease.