Clinica chimica acta; international journal of clinical chemistry · 2025
Carrier screening for survival motor neuron variants in 7709 pregnant women from Foshan, Guangdong Province.
СтатьяНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Yuan Xiao-Wen, Feng Guang-Rong, Lu Zhan-Tao, Zhang Xin
Аннотация
PURPOSE: Spinal muscular atrophy (SMA), a severe autosomal-recessive disorder, is primarily caused by homozygous deletions of exon 7 survival motor neuron 1 (SMN1) gene. However, data on SMN1 variant carrier rates in the Foshan area of Guangdong Province are limited. This retrospective study aimed to determine SMN1 carrier rate among pregnant women in Foshan, evaluate screening uptake, and analyse regional variations to optimize genetic counselling strategies and public health interventions.
METHODOLOGY: Multiplex real-time quantitative polymerase chain reaction was used to determine the SMN1 variant in pregnant women from February 2023 to March 2025 in the Foshan area. If pregnant women screened positive, carrier testing was recommended for their husbands. Prenatal diagnoses were performed for high-risk couples.
RESULTS: Among the 7709 pregnant women who underwent SMN1 variant carrier screening, 104 SMN1 variant carriers were identified, yielding a carrier rate of 1.35 %. Spousal testing (82.7 % compliance) revealed one high-risk couple, with prenatal diagnosis confirming a heterozygous deletion in the foetus. The carrier rate of Foshan was lower than that in Shenzhen and Maoming but higher than that in Hispanic populations.
CONCLUSIONS: Our study revealed a 1.35 % SMN1 carrier rate among Foshan pregnant women, supporting genetic counselling and prenatal diagnosis implementation. Systematic screening facilitates early detection of at-risk couples, enabling prenatal interventions to reduce SMA births.
METHODOLOGY: Multiplex real-time quantitative polymerase chain reaction was used to determine the SMN1 variant in pregnant women from February 2023 to March 2025 in the Foshan area. If pregnant women screened positive, carrier testing was recommended for their husbands. Prenatal diagnoses were performed for high-risk couples.
RESULTS: Among the 7709 pregnant women who underwent SMN1 variant carrier screening, 104 SMN1 variant carriers were identified, yielding a carrier rate of 1.35 %. Spousal testing (82.7 % compliance) revealed one high-risk couple, with prenatal diagnosis confirming a heterozygous deletion in the foetus. The carrier rate of Foshan was lower than that in Shenzhen and Maoming but higher than that in Hispanic populations.
CONCLUSIONS: Our study revealed a 1.35 % SMN1 carrier rate among Foshan pregnant women, supporting genetic counselling and prenatal diagnosis implementation. Systematic screening facilitates early detection of at-risk couples, enabling prenatal interventions to reduce SMA births.