广州市番禺区出生缺陷现状分析

Analysis on current situation of birth defects in Panyu district of Guangzhou city

目的:利用完善的计划生育三级服务网络进行多个目标病种的群体干预,逐步建立以降低唐氏综合征(包括18三体综合征)、重型地中海贫血及重大体表、内脏、骨骼畸形患儿出生率为目的的产前筛查和产前诊断服务体系。方法:唐氏筛查为中孕期血清学唐氏筛查,联合检测AFP、HCG、uE3三种标记物;地中海贫血采用MCV、MCH初筛和高效液相色谱(HPLC)复筛,阳性者进行基因诊断;地中海贫血、唐氏筛查高风险家庭进一步行产前诊断确诊。孕18～24周重大体表、内脏、骨骼畸形采用彩色多普勒进行排畸筛查。结果:1 320个唐氏筛查高风险家庭和91个地中海贫血高风险家庭进行了产前诊断,结果确诊染色体异常23例,重症地中海贫血22例。超声排畸筛查诊断重大体表、内脏、骨骼畸形183例。三大病种共确诊并终止妊娠共229例。结论:完善的计划生育三级服务网络有助于减少唐氏综合征(包括18三体综合征)、重型地中海贫血及重大体表、内脏、骨骼畸形患儿出生。

Objective： To conduct population intervention of various diseases by improved three - stage service network of family planning, and gradually construct prenatal screening and diagnostic service system for the purpose of reducing birth rate of infants with Down＇s syndrome （including trisomy 18 syndrome）, severe thalassemia, and major external, visceral, skeletal malformations. Methods： The methods to screen Down syndrome included serological examination, joint detection of alpha fetal protein （ AFP）, human chorionic gon- adotropin （HCG）, and uncojugated estriol; while methods to screen thalassemia included preliminary screening with mean corpuscular vol- ume （MCV） and mean corpuscular hemoglobin （MCH）, secondary screening with high performance liquid chromatography （HPLC）, the positive cases received genetic diagnosis; the high risk families of Down＇s syndrome and thalassemia further underwent prenatal examination for definite diagnosis. Major external, visceral, skeletal malformations at 18 -24 gestational weeks were screened by color Doppler ultra- sonography. Results： A total of 1 320 high risk families of Down＇s syndrome and 91 high risk families of thalassemia received prenatal diag- nosis, the results showed that 23 cases were found with chromosomal abnormalities and 22 cases were found with severe thalassemia. One hundred and eighty- three cases with major external, visceral, skeletal malformations were screened out by uhrasonography. Finally, 229 eases were diagnosed definitely and pregnancy was terminated. Condusion： A perfect three - stage service network of family planning helps to reduce birth of infants with Down＇s syndrome （including trisomy 18 syndrome）, severe thalassemia, and major external, visceral, skeletal malformations.