摘要
尺桡骨融合伴无巨核细胞性血小板减少2型(RUSAT-2)是一种常染色体显性遗传疾病。多为成人或婴幼儿期发现,产前报道极为罕见。本文收集甘肃省妇幼保健院1例孕妇产前诊断为RUSAT-2的胎儿,孕15周产前超声发现胎儿颈椎排列紊乱,生理曲度异常,双下肢姿势固定。引产后行家系临床全外显子组测序,结果显示胎儿MECOM基因(NM_00499)c.2813G>A(p.Arg938Gln)位点突变,父母均未检测到相同变异。RUSAT在产前直接诊断较难,孤立性尺桡关节融合更难发现。临床上对具有骨骼异常或家族遗传史的高危胎儿,产前超声检查时应重点观察胎儿细微结构,必要时进行相关遗传学检查。
Ulnar radial fusion with absence of megakaryocytic thrombocytopenia type 2(RUSAT‑2)is an autosomal dominant disorder.It is mostly found in adults or infancy,and prenatal reports are extremely rare.Clinical data such as prenatal ultrasound of a fetus with prenatal diagnosis of RUSAT‑2 in a pregnant woman in Gansu Maternal and Child Health Hospital and genetic testing of the fetus after induction of labour were collected and analysed.Antenatal ultrasound at 15 weeks of gestation revealed disturbed alignment of the cervical vertebrae,abnormal physiological curvature and fixed posture of both lower limbs.After induction of labour,a family line clinical whole exome sequencing was performed,Genetic testing revealed a de novo MECOM(NM_00499)c.2813G>A(p.Arg938Gln)variant in the fetus,absent in both parents.RUSAT is more difficult to diagnose directly in the prenatal period,and isolated ulnar radial fusion is even more difficult to detect.Clinically,in high‑risk foetuses with skeletal anomalies or a family history of such an anomaly,prenatal ultrasonography should focus on observing the subtle foetal structures,and relevant genetic tests should be performed if necessary.
作者
苏晓荣
李天刚
王瑷琳
马斌
SU Xiaorong;LI Tiangang;WANG Ailin;MA Bin(Ultrasound Medicine Center,Gansu Provincial Maternity and Child Health Hospital(Gansu Provincial Central Hospital),Lanzhou 730050,China)
出处
《中国循证儿科杂志》
北大核心
2025年第4期318-320,共3页
Chinese Journal of Evidence Based Pediatrics
基金
甘肃省自然科学基金:23JRRA1391。
