Carrier Screening for Spinal Muscular Atrophy (SMA) in 107,611 Pregnant Women during the Period 2005–2009 A Prospective Population-Based Cohort Study 英文参考文献.docVIP

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Carrier Screening for Spinal Muscular Atrophy (SMA) in 107,611 Pregnant Women during the Period 2005–2009 A Prospective Population-Based Cohort Study 英文参考文献.doc

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

CarrierScreeningforSpinalMuscularAtrophy(SMA)in 107,611PregnantWomenduringthePeriod2005–2009: AProspectivePopulation-BasedCohortStudy Yi-NingSu1,2,3.,Chia-ChengHung1,3.,Shin-YuLin2,4,Fang-YiChen5,JimmyP.S.Chern6,ChrisTsai7 ,Tai- ShengChang7,Chih-ChaoYang8,HungLi9,Hong-NerngHo4,Chien-NanLee4* 1Graduate Institute of Clinical Genomics, National Taiwan University College of Medicine, Taipei, Taiwan, 2Graduate Institute of Clinical Medicine, National Taiwan UniversityCollegeofMedicine,Taipei,Taiwan,3DepartmentofMedicalGenetics,NationalTaiwanUniversityHospital,Taipei,Taiwan,4DepartmentofObstetricsand Gynecology,NationalTaiwanUniversityHospital,Taipei,Taiwan,5DepartmentofObstetricsandGynecology,TaiwanAdventistHospital,Taipei,Taiwan,6Departmentof FamilyMedicine, Tao-Yuan General Hospital,Department ofHealth, Taoyuan, Taiwan, 7Bionet Cooperation Inc.,Taipei,Taiwan, 8Department of Neurology, National TaiwanUniversityHospital,Taipei,Taiwan,9InstituteofMolecularBiology,AcademiaSinica,Taipei,Taiwan Abstract Background: Spinal muscular atrophy (SMA) is the most common neuromuscular autosomal recessive disorder. The AmericanCollegeofMedicalGeneticshasrecentlyrecommendedroutinecarrier screeningforSMAbecauseofthehigh carrier frequency (1in 25–50) aswell asthe severityof thatgenetic disease.Large studies areneededto determinethe feasibility,benefits,andcostsofsuchaprogram. MethodsandFindings:Thisisaprospectivepopulation-basedcohortstudyof107,611pregnantwomenfrom25counties inTaiwanconductedduringtheperiodJanuary2005toJune2009.Athree-stagescreeningprogramwasused:(1)pregnant womenweretestedforSMAheterozygosity;(2)ifthemotherwasdeterminedtobeheterozygousforSMA(carrierstatus), the paternal partner was then tested; (3) if both partners were SMA carriers, prenatal diagnostic testing was performed. Duringthestudyperiod,atotalof2,262SMAcarrierswithonecopyoftheSMN1genewereidentifiedamongthe107,611 pregnantwomenthatwerescreened.Thecarrierratewasapproximately1in48(2.10%).Thenegativepredic