产前诊断5例17p13.3微缺失/微重复综合征

Prenatal diagnosis of 5 cases of 17p13.3 microdeletion/microduplication syndrome

目的对5例17p13.3微缺失/微重复综合征胎儿进行回顾性分析,评价染色体微阵列分析技术(CMA)在产前诊断中的价值。方法5例孕妇因超声提示胎儿结构异常/血清学筛查异常进行产前诊断,利用染色体G显带和CMA技术对5例胎儿微缺失/微重复综合征进行检测。结果羊水细胞染色体核型结果显示:胎儿2核型结果为46,XN,-17,+der(17)t(15;17)(q24.1;p13.3),其他均未见异常。CMA检测结果显示,4例17p13.3微缺失综合征,1例17p13.3微重复综合征;5例孕妇得知胎儿检测结果并经遗传门诊咨询后决定终止妊娠。结论CMA技术可有效地检测出传统核型分析无法识别的具有临床意义的微缺失/微重复等染色体异常,提高了产前诊断的准确性,为家庭再生育复发风险评估及产前诊断提供依据,从而降低出生缺陷发生率。

Objective To evaluate the value of chromosome microarray analysis(CMA)in prenatal diagnosis of 5 fetuses with 17p13.3 microdeletion/microduplication syndrome.Methods Five pregnant women were diagnosed with fetal structural/serological screening abnormalities by ultrasound,and then 5 cases of fetal microdeletion/microduplication syndrome were detected by chromosome G banding and CMA.Results The chromosome karyotype of amniotic fluid cells showed that the karyotype of case 2 was 46,XN,-17,+der(17)t(15.17)(q24.1;p13.3),and there were no abnormalities in the others.CMA results showed that there were four cases of 17p13.3 microdeletion syndrome and one case of 17p13.3 microduplication syndrome.Five pregnant women were informed of fetal testing results and chose to terminate their pregnancies after genetic consulting.Conclusion CMA technology can effectively detect the clinically significant chromosomal abnormalities,such as microdeletion/microduplication which cannot be recognized by traditional karyotype analysis,improve the accuracy of prenatal diagnosis,provide basis for the risk assessment of family reproduction recurrence and prenatal diagnosis,and thus reduce the incidence of birth defects.