Carrier Screening for Spinal Muscular Atrophy (SMA) in 107,611 Pregnant Women during the Period 2005–2009: A Prospective Population-Based Cohort Study

Yi-Ning Su, Chia-Cheng Hung, Shin‐Yu Lin, Fang-Yi Chen, Jimmy P.S. Chern, Chris Tsai, Tai-Sheng Chang, Chih‐Chao Yang, Hung Li, Hong‐Nerng Ho,

PLoS ONE · 2011 · 104 citations · 34 references

DOIFull text

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Abstract

The main benefit of SMA carrier screening is to reduce the burden associated with giving birth to an affected child. In this study, we determined the carrier frequency and genetic risk and provided carrier couples with genetic services, knowledge, and genetic counseling.

References

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