Case analysis of accidental discovery of DMD gene deletion or duplication using aCGH in prenatal diagnosis
Objective To explore the important value of array comparative genomic hybridization(aCGH)technology in prenatal diagnosis for the detection of deletions or duplications in the dystrophin gene(also known as the DMD gene).Methods Amniotic fluid samples from 851 pregnant women who underwent prenatal diagnosis using aCGH technology due to high-risk factors(such as advanced maternal age,high-risk serum screening,high-risk non-invasive screening,or abnormal ultrasound soft markers)at Northwest Women's and Children's Hospital from September 2019 to July 2020 were collected for testing.Furthermore,the multiplex ligation-dependent probe amplification(MLPA)method was used to validate DMD gene variations.Results Among the 851 amniotic fluid samples from pregnant women,aCGH prenatal diagnosis unexpectedly revealed 4 cases of DMD gene deletions or duplications.Subsequent MLPA testing confirmed the above variations.Fetus 1:male,arr[GRCh37]Xp21.1(31691172-31766673)×0,DMD gene E52-53 deletion;Fetus 2:male,arr[GRCh37]Xp21.2(31016983-31351900)×2,DMD gene E61-79 duplication;Fetus 3:female,arr[GRCh37]Xp21.2(31182699-31474949)×3,DMD gene E58-74 duplication;Fetus 4:male,arr[GRCh37]Xp21.1(31777925-32152126)× 2,DMD gene E45-51 duplication.All 4 variations were inherited from the mothers.Conclusion Prenatal diagnosis is an important means to prevent the birth of DMD patients.The application of aCGH technology in prenatal diagnosis not only detects chromosomal microdeletions and microduplications syndromes but also helps to detect single-gene diseases caused by gene deletions or duplications,providing a theoretical basis for clinical diagnosis and genetic counseling.
万方数据
维普
