[1] CHITTY L.Prenatal screening for chromosome abnormaities [J].Birth Medical Bulletin,1998(54):839-856.
[2] 吕时铭.检验与临床诊断妇产科学分册[M].北京:人民军医出版社,2007:153-187.
[3] 李辉,王德智.唐氏综合征产前筛查的进展[J].中国实用妇科与产科杂志, 2008, 24(1):8-10.
[4] LIU F,LIANG H ,JIANG X ,et al.Second trimester prenatal screening for Down , s syndrome in Mainland Chinese subjects using double-marker analysis of α-fetoprotein and β-human chorionic gonadotropin combined with measurement of nuchal fold thickness[J].Ann Acad Med Singapore,2011,40(2):315-318.
[5] LILLS T,WEISE A,HAMID A B,et al.Multicolor in current
clinical diagnostics[J].Expert Rev Mol ,2013,13(3):251-255.
[6] MILLER D T,ADAM M P,ARADHYA S,et al.Consensus Statement; Chromosomal Microarray is a Frist-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies[J].Am J Hum Genet,2010,86(5):749-764.
[7] BOORMANS E M,BIRNIE E,OEPKES D,et al.Comparison of
multiplex ligtion-dependent probe amplification and karyotyping in prenatal diagnosis[J].Obstet Gynecol,2010,115(2pt1):297-577.
[8] HILLS A,DONAGHUE C ,WATERS J,et al,QF-PCR as a stand-alone test for prenatal samples:the frist 2 year experience in the London region[J].Prenat Diagn,2010,30(6):509-517.
[9] HOLGADO E,lIDDLE S,BALLARD T,et al.Incidence of placental mosaicism leading to discrepant results beteen QF-PCR and karyotyping in 22825 chorionic villus samples[J].Prenat Diagn,2011,31(11):1029-1038.
[10] GREENE M F,PHIMISTER E G.Screening for trisomies in circulating DNA[J].N Engl J Med,2014,370(9):874-875.
[11] MORAIN S , GREENE M F,MELLO M M.A New Era in Noninvasive Prenatal Testing[J].N Engl J Med,2013,369(6):499-501.
[12] 吕时铭,沈凤贤.产前筛查与诊断的质量控制与热点问题[J].中华检验医学杂志,2013,36(1):1-5. |
