遗传咨询与产前诊断中检测出Turner综合征

Genetic counseling and prenatal diagnosis of Turner syndrome carriers

目的对遗传咨询者及产前诊断者的染色体结果分析进行分析,探讨Turner综合征的临床意义。方法 2012年1月1日至2014年6月30日在我院要求遗传咨询的4160例女性患者,以及行羊膜腔穿刺的14 837例孕妇。遗传咨询者取外周血,产前诊断取羊水,进行G显带染色体核型分析。结果 4160例外周血标本检测出73例Turner综合征,临床表现为原发不孕、原发闭经和性腺发育不良以及身材矮小等。染色体核型以X单体型、嵌合型为主;14 837例羊水标本检测出34例特纳综合征,行产前诊断的临床指征主要为:高龄孕妇;唐氏综合征筛查高风险;不良孕产史等。染色体核型以45,X为主,17例,另17例为嵌合型特纳综合征核型。结论对于那些不孕不育的适龄女性以及身材矮小的女性应尽早行外周血染色体检查;中孕期检测出特纳综合征,做好产前诊断遗传咨询。

Objective：To evaluate the result of the genetic counselors and prenatal diagnosis of chromosome analysis is analyzed,to explore the clinical significance of Turner syndrome. Methods：From January 1,2012 to June 30,2014 in our hospital for genetic counseling,4160 cases of female patients,and 14 837 cases of pregnant women who underwent amniocentesis. Genetic counselors in peripheral blood,prenatal diagnosis of amniotic fluid,G banding karyotype analysis. Results：4160 cases of peripheral blood specimens detected 73 cases of Turner syndrome,clinical manifestation of primary infertility,primary amenorrhea and gonad dysplasia and short stature. Chromosome karyotype is given priority to with X haplotype,mosaicism type;34 cases of Turner syndrome were detected from 14 837 cases of amniotic fluid samples,clinical indications for prenatal diagnosis were：advanced maternal age;Down syndrome screening high-risk;abnormal gestation and birth on the basis of,etc. Chromosome karyotype 45,X is given priority,17 cases,the other 17 cases of mosaicism type karyotype of Turner syndrome.Conclusions：For those fertile female infertility and diminutive woman should peripheral blood chromosome examination as soon as possible;Turner syndrome during pregnancy identified in the prenatal diagnosis of indications,do better for the prenatal diagnosis and genetic counseling.