Screening and prenatal diagnosis of survival motor neuron gene deletion in pregnant women in Zhaoqing city, Guangdong Province

• Published in: BMC medical genomics Vol. 16; no. 1; p. 39
• Main Authors: Huang, Zhiwei, Yang, Qingchan, Ye, Jianxiang, Huang, Jianxing, Lin, Jin, Chen, Jing, Liang, Zizhao, Cao, Zijie
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 01.03.2023; BioMed Central; BMC
• Subjects: Analysis; Birth defects; Carrier screening; China; Congenital defects; Couples; Diagnosis; Ethnicity; Exons; Female; Fetuses; Fluorescence; Gene Deletion; Gene mutations; Genes; Genetic analysis; Genetic counseling; Genomes; Humans; Minority & ethnic groups; Motor Neurons; Muscular Atrophy, Spinal - diagnosis; Mutation; Neuromuscular diseases; Neurons; Next-generation sequencing; Obstetrical research; Parents & parenting; Pregnancy; Pregnant Women; Prenatal Diagnosis; Prevention; SMN protein; SMN1; Software; Spinal muscular atrophy; Survival of Motor Neuron 1 Protein - genetics; Womens health; China; Guangdong China; Prenatal diagnosis; SMN1; Carrier screening; Spinal muscular atrophy
• ISSN: 1755-8794; 1755-8794
• DOI: 10.1186/s12920-023-01468-0

A total of 5,200 pregnant women in Zhaoqing city, Guangdong Province, were screened to identify spinal muscular atrophy (SMA) mutation carriers to guide the prevention of SMA and prevent the birth of children with SMA. Exons 7 and 8 (E7 and E8) of the survival motor neuron (SMN) 1 gene were detected in women using real-time fluorescence quantitative polymerase chain reaction. SMN1 and SMN2 copy numbers in those who were initially identified as carriers were verified via targeted region capture and next-generation sequencing. When both partners were identified as carriers, prenatal diagnosis of the fetus was performed. Among the screened women, 75 SMA carriers (71 cases had both E7 and E8 heterozygous deletions and 4 cases only had an E7 heterozygous deletion) were identified, with a carrier frequency of 1.44% (95% confidence interval: 1.31-1.65%). Three couples where both spouses were identified as SMA carriers, and their three fetuses were subjected to prenatal genetic analysis. Of the three, one had homozygous deletions of E7 and E8 and the other two had heterozygous deletions of E7 and E8. After a detailed prenatal consultation, the former couple decided to terminate the pregnancy. Through screening and prenatal diagnosis of pregnant women in Zhaoqing city, Guangdong Province, the incidence of SMA can be reduced, prevention of birth defects can be improved, incidence of birth defects can be effectively minimized.