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目的自2008年1月年至2014年12月期间来我院外周血染色体检查的疑诊为唐氏综合征的患者进行染色体核型和临床分析。方法采用常规外周血淋巴细胞培养及染色体制备,G显带,镜下核型分析;对确诊的唐氏综合征的患者父母进行回顾性随访和临床分析。结果本研究共检出唐氏综合征患者132人,年龄最小者出生1小时,最大者12岁;未做过产前筛查者128人,占总数的96.9%,做过产前筛查者4人,占总数的3.1%;汉族75人,占总数的56.8%,少数民族57人占总数的43.2%;母亲生育时年龄超过35岁者45人,占总数的34.1%;母亲的职业为农民者106人,占总数的80.3%。结论加强优生优育的宣传力度,提高孕妇对遗传咨询、产前筛查及产前诊断的认识,提高产前诊断率,才能有效避免唐氏综合征患儿的出生,减轻家庭及社会的负担,使更多的家庭受益。另外还应该加强对边疆地区和少数民族地区医疗资源的投入。
Objective To investigate the chromosomal karyotypes and clinical analysis of patients suspected of Down’s syndrome from our hospital from January 2008 to December 2014 during the peripheral chromosomal examination in our hospital. Methods The routine peripheral blood lymphocyte culture and chromosome preparation, G-banding and microscopic karyotype analysis were performed. The parents of the confirmed Down’s syndrome patients were retrospectively followed up and analyzed clinically. Results A total of 132 Down syndrome patients were detected in this study. The youngest person was born one hour, the largest was 12 years old. 128 persons who did not make prenatal screening, accounting for 96.9% of the total, did prenatal screening 4 people, accounting for 3.1% of the total; 75 Han people, accounting for 56.8% of the total; 57 ethnic minorities accounted for 43.2% of the total; 45 males over the age of 35, accounting for 34.1% of the total; maternal occupation 106 peasants, accounting for 80.3% of the total. Conclusion To strengthen the publicity of eugenics and prenatal and postnatal care, raise awareness of genetic counseling, prenatal screening and prenatal diagnosis, and increase the rate of prenatal diagnosis, can we effectively prevent the birth of children with Down Syndrome and reduce the burden on families and society, Benefit more families. In addition, investment in medical resources in border areas and ethnic minority areas should also be strengthened.