两例46,X,i(X)(q10)型Turner综合征胎儿的产前诊断

Prenatal diagnosis of two Turner syndrome fetuses with 46,X,i(X)(q10)

目的探讨46,X,i(X)(q10)型Turner综合征胎儿的产前诊断及遗传咨询。方法1例孕妇因产前血清学唐氏综合征筛查高风险、系统超声检查发现胎儿股骨和肱骨长明显小于临床孕周于2016年10月就诊于大连市妇幼保健院;1例孕妇因无创产前检测提示胎儿X单体于2017年11月就诊于本院。应用荧光原位杂交技术和染色体核型分析技术进行遗传学产前诊断,并对胎儿父母进行外周血染色体核型分析。结果2例孕妇羊水细胞荧光原位杂交检测显示13、18、21和性染色体数目未见异常,染色体核型分析均显示核型为46,X,i(X)(q10),孕妇及其丈夫外周血染色体核型均未见异常。经过遗传咨询,2例孕妇及家属选择终止妊娠。结论产前唐氏综合征血清学筛查和系统超声检查以及无创产前检测有助于筛查出46,X,i(X)(q10)型Turner综合征胎儿高风险孕妇。及时准确的产前诊断有助于减少该类染色体病患儿的出生。

Objective To summarize the prenatal diagnosis and genetic counseling of Turner syndrome fetuses with 46,X,i(X)(q10). Methods Two gravidas admitted to the Obstetrics and Gynecology Hospital of Dalian were enrolled in this study. One gravida, who was admitted in October 2016, was classified as high risk of Down syndrome based on prenatal serologic screening and systematic ultrasonography, which found remarkably shorter humeri and femora than fetus of the same gestations. The other was suggested to be monosomy X after non-invasive prenatal testing and admitted in November 2017. Fluorescence in situ hybridization (FISH) and karyotyping were performed for prenatal diagnosis. Peripheral blood karyotyping was also offered to the two women and their partners. Results FISH test for amniotic fluid did not find numerical abnormality in 13, 18, 21, and sex chromosomes in these two fetuses. Karyotype analysis showed that the two fetuses were both 46, X, i(X)(q10), while their parents were normal. Both cases were terminated after genetic counseling. Conclusions Prenatal serological screening, systematic ultrasonography and non-invasive prenatal testing may help to identify Turner syndrome fetus of 46, X, i(X)(q10). Timely and accurate prenatal diagnosis may prevent the affected fetus from being born.