胎儿多发畸形与染色体异常的相关性分析

Association of Chromosomal Abnormalities and Fetus with Multiple Malformations

【目的】探讨多发畸形胎儿的产前诊断特征及其与染色体异常的关系。【方法】对853例产前诊断胎儿进行研究,根据超声检测检出多发畸形与否,分为多发畸形组(n=103)及非畸形组(对照组,n=750),行常规染色体核型分析;收集相关临床资料:分析胎儿畸形超声发现时期、畸形类别、畸形数目、染色体异常率和异常类型以及染色体异常与多发畸形的相关性。【结果】两组胎儿比较,染色体异常率(多发畸形组43.69%,对照组0.93%),性别比(多发畸形组1.94,对照组0.97),产前诊断孕周[多发畸形组(25±5)周,对照组(21±4)周],差异均有统计学意义(P<0.05)。超声发现胎儿畸形数目越多,胎儿染色体异常的风险越大(r=0.792,P=0.017)。多变量统计学分析的结果提示超声检出胎儿的面颈部异常(OR=7.748,P=0.000)、心血管系统异常(OR=5.064,P=0.002)、泌尿系统畸形(OR=0.195,P=0.005)、单脐动脉(OR=4.608,P=0.020)与多发畸形胎儿的染色体异常相关。【结论】多发畸形胎儿染色体异常率高;在超声对多发畸形胎儿检测中,胎儿的面颈部异常、心血管系统异常、单脐动脉可能可以作为胎儿染色体异常的预测指标。

[Objective] To investigate the multiple characteristics of fetal malformation in prenatal diagnosis and its relationship with chromosomal abnormalities.[Methods] A total of 853 cases were divided into multiple malformations group（n = 103） and non-malformation group（control group,n = 750） according to ultrasound detected multiple malformations or not.Collecting clinical data：the discovery of fetal malformations time,the number of deformities,the abnormal types and rates of chromosome abnormalities and outcomes of karyotypes associated malformations.[Results] Comparing the results of two groups,the fetal chromosomal abnormality rate（multiple malformations group 43.69%,0.93% in control group）,the sex ratio（multiple malformations group 1.94,control group 0.97）and the prenatal diagnosis of gestational age [multiple malformations group（25 ± 5） weeks,the control group（21 ± 4） weeks] were significant differences.The more the number of fetal malformations found by ultrasound,the greater the risk of fetal chromosomal abnormality（r = 0.792,P = 0.017）.Multivariate statistical analysis of the results suggest that ultrasound detection of fetal face and neck abnormalities（OR = 7.748,P = 0.000）,cardiovascular abnormalities（OR = 5.064,P = 0.002）,urinary tract abnormalities（OR = 0.195,P = 0.005）,and single umbilical artery（OR = 4.608,P = 0.020）related to fetal chromosomal abnormalities in multiple malformation fetuses.[Conclusion] Multiple malformations showed higher rate of fetal chromosomal abnormalities.Cardiovascular abnormality,face and neck abnormalities and single umbilical artery may be used as a predictor of fetal chromosomal abnormalities.