11 孕周无创性产前筛查（NIPS）后应用多重连接依赖性探针扩增（MLPA）技术对新发 DMD 基因重复进行产前诊断。
Prenatal diagnosis of de novo DMD duplication by multiplex ligation-dependent probe amplification (MLPA) after noninvasive prenatal screening (NIPS) at 11 gestational weeks.
机构信息
Department of Obstetrics and Gynecology, CHA Gangnam Medical Center, CHA University, Seoul, South Korea.
Genetics Laboratory, Fertility Center of CHA Gangnam Medical Center, CHA University, Seoul, South Korea.
出版信息
Taiwan J Obstet Gynecol. 2021 May;60(3):570-573. doi: 10.1016/j.tjog.2021.03.035.
OBJECTIVE
Dystrophinopathy is an X-linked recessive muscular dystrophy caused by mutations in the DMD gene. Herein we describe the prenatal detection of DMD gene mutations in a patient with no family history, by multiplex ligation-dependent probe amplification (MLPA) after noninvasive prenatal screening (NIPS).
CASE REPORT
A 41-year-old woman underwent NIPS owing to an advanced maternal age. A copy number variation was detected in the maternal X chromosome, and uninformative results were obtained for the fetal sex chromosomes. Following amniocentesis, a duplication was identified in exons 1-29 of the dystrophin gene by MLPA. After interviewing her family members it was confirmed that the patient is a de novo carrier of DMD duplications, and her daughter is a carrier of the same mutation.
CONCLUSION
his is the first case report to describe the prenatal diagnosis of duplications in the DMD gene by MLPA following NIPS in a patient with no family history.
目的
肌营养不良蛋白病是一种 X 连锁隐性遗传性肌肉疾病，由 DMD 基因突变引起。本研究通过多重连接依赖性探针扩增（MLPA）对无家族史的患者进行非侵入性产前筛查（NIPS）后，对 DMD 基因突变进行了产前检测。
病例报告
一名 41 岁的女性因高龄接受了 NIPS。在母体 X 染色体上检测到拷贝数变异，而胎儿性染色体的结果无信息。在羊膜穿刺术之后，通过 MLPA 发现肌营养不良蛋白基因外显子 1-29 发生了重复。对其家庭成员进行询问后证实，该患者为 DMD 重复突变的新生突变携带者，其女儿为同一突变的携带者。
结论
这是首例无家族史患者通过 NIPS 后 MLPA 对 DMD 基因突变进行产前诊断的病例报告。
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