Analysis of the current situation of carrier screening for spinal muscular atrophy in pregnant women in Cangzhou region
Objective To analyze the carrying situation of 1941 pregnant women's spinal muscle atrophy(SMA)in the Cangzhou area,and to initially understand the SMA carrying rate of pregnant women in the region,and to master the characteristics of the genetic distribution frequency characteristics of pregnant women in the region.To be familiar with the prenatal screening of SMA in Cangzhou area,and to perform prenatal diagnosis for high-risk pregnant women.To reduce the birth of children with SMA.Methods From October 2021 to December 2023,prenatal screening for SMA was conducted on 1941 pregnant women at the Prenatal Diagnosis Center of Cangzhou Women and Children's Health.The fluorescent quantita-tive polymerase chain reaction(RT-PCR)technology was used to analyze the copy numbers of exons 7 and 8 of SMN1.Preg-nant women carried spinal muscle atrophy gene,the same method of applying the same method of the carrier's husband.If both husband and wife were carriers for SMA at the same time,they needed to conduct multiple connections to the family department to verify the expansion probe technology(MLPA).After confirmation,prenatal diagnosis was performed on preg-nant women who met the gestational age through amniocentesis.Results Among the 1941 pregnant women,a total of 41 car-riers were identified,with a carry rate of 2.1％.Among them,33 cases were compound heterozygous deletions of E7 and E8(carrier rate of 1.7％),and 8 cases were heterozygous deletions of E8(carrier rate of 0.4％).One couple was identified as car-riers simultaneously,but prenatal diagnosis was not performed for the fetus after genetics consultation.Follow-up revealed a normal genotype for SMA in the newborn.Conclusion This article reports for the first time the carrier rate of SMA in the Cangzhou region among pregnant women,and provides a preliminary understanding of the genetic distribution frequency of carriers in this area,in order to provide support for genetic counseling and prenatal diagnosis of the disease,thereby reducing the birth of SMA children.
spinal muscular atrophyquantitative real-time polymerase chain reaction(RT-PCR)survival of motor neuron 1(SMN1)pregnant women carriers
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