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目的了解开封地区优生遗传门诊现状,更好地开展优生遗传咨询工作,为广大群众服务。方法选取2011年度登记在册的开封市妇产医院优生遗传门诊病例加以分析,疑染色体病者进行染色体检查。结果我院优生遗传门诊2011年共接待咨询者1528对夫妇,根据咨询内容大致分为六类。咨询内容最多的是男女双方或一方孕前或孕期用药,接触有毒有害物质担心对胎儿有影响的,共计919人次,占60.22%;其次是要求孕前体检或咨询孕前注意事项的379人次,占24.84%,这两部分合计1298人次,占总咨询人数的85.06%。有自然流产或胎停育史要求检查原因的143对夫妇,占9.37%;异常儿生育史者41对夫妇,占2.69%;专门咨询乙肝病毒对胎儿的传染的36对夫妇,占2.26%;曾生育遗传病患儿或夫妇一方为某种遗传病患者咨询胎儿发病风险的10人次,占0.65%。对自然流产或胎停育2次及以上的夫妇,异常儿生育史夫妇疑染色体病者及患儿进行外周血染色体检查,疑基因病者进行基因诊断。2011年度共检查外周血染色体566例,异常81例(除外大Y),异常率14.31%。其中数目异常58例,结构异常23例,结构异常中世界首报染色体异常核型7例,占结构异常的30.43%。结论作为优生遗传咨询医师,要明确本地区多发病,常见病,高发遗传病的种类,广大育龄妇女所关心的问题,同时要具备扎实的优生学,医学遗传学以及常见的内、外、妇等科知识,还要掌握咨询的技巧,这样才能更好地服务于民,为提高出生人口素质,降低出生缺陷努力。
Objective To understand the status quo of genetic predisposition for the prenatal care in Kaifeng region and better carry out the genetic counseling for eugenics and serve the masses. Methods Selected in 2011 registered Kaifeng City Maternity Hospital eugenics outpatient cases were analyzed, suspected chromosomal disease in patients with chromosomal examination. Results In our hospital, eugenics and outpatient clinics received a total of 1528 couples from consultants in 2011, roughly classified into six categories according to the consultation contents. Consultation is the largest content of both men and women or one of the pre-pregnancy or pregnancy medication, exposure to toxic and hazardous substances are worried about the fetus, a total of 919 passengers, accounting for 60.22%; followed by pre-pregnancy examination or consult pre-pregnancy precautions, accounting for 24.84% , A total of 1298 people in both parts, accounting for 85.06% of the total number of consultants. 143 couples with a history of spontaneous abortion or childbirth, accounting for 9.37%; 41 couples with anomalous childbirth history, accounting for 2.69%; 36 couples specializing in the hepatitis B virus infection of the fetus, accounting for 2.26%; Fertility genetic disease or one of the couple for some genetic disease consultation of fetal risk of 10 people, accounting for 0.65%. On spontaneous abortion or childbirth and 2 or more couples, abnormal child bearing history of suspected chromosomal disorders and pediatric patients with chromosomal examination of peripheral blood, genetic testing of suspected genetic disease. A total of 566 cases of peripheral blood chromosomes were examined in 2011, with an abnormality of 81 cases (except for large Y) and an abnormality rate of 14.31%. The number of abnormalities in 58 cases, 23 cases of structural abnormalities, structural abnormalities in the world first reported chromosomal abnormal karyotype in 7 cases, accounting for 30.43% of structural abnormalities. Conclusions As eugenics genetic counselors, it is necessary to clarify the types of frequently-occurring diseases, frequently-occurring diseases and high-incidence genetic diseases in the region, and the problems of women of childbearing age. At the same time, we should have a solid eugenics, medical genetics and common internal and external factors And other subjects knowledge, but also master the skills of counseling, so as to better serve the people, to improve the quality of birth population, reduce birth defects efforts.