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据悉15q近端单体性产前诊断目前尚无报道。高分辨显带技术发现15q近端缺失与Prader-Willi综合征(PWS)和Angelman综合征(AS)密切相关。作者报道的病例为27岁孕妇,由于母血清甲胎蛋白(MS-AFP)水平低而行羊膜穿刺术。妊娠17周检测MS-AFP浓度低于正常值(14.4ng/ml),妊娠19周第二次检测仍证实MS-AFP水平低(29ng/ml)。妊娠18周首次超声波检查除股骨长度约-2SD外,其它未见异常。妊娠24周再次超声波检查证实股骨短,未见形态异常,故行产前细胞遗传学检查。
It is reported that 15q proximal monophasic prenatal diagnosis has not been reported. High-resolution banding revealed proximal 15q deletion was associated with Prader-Willi syndrome (PWS) and Angelman’s syndrome (AS). The authors reported 27-year-old pregnant women undergoing amniocentesis due to low levels of maternal serum alpha-fetoprotein (MS-AFP). MS-AFP levels were lower than normal (14.4 ng / ml) at week 17 of gestation, and low levels of MS-AFP (29 ng / ml) were still achieved at week 19 of gestation. 18 weeks of pregnancy the first ultrasound in addition to femoral length of about -2SD, the other no exception. 24 weeks pregnant again ultrasound confirmed the short femur, no abnormalities, so prenatal cytogenetic examination.