| ［1］ 《中国出生缺陷防治报告(2012)》.中华人民共和国卫生部，2012.［2］ Garne E,Loane M,Dolk H.Prenatal diagnosis of severe structural congenital malformations in Europe［J］.Ultrasound Obstet Gynecol,2005, 25: 6-11.［3］ Chaoui R.The four-chumber view: four reasons why is seems to fail in screening for cardiac abnormalities and suggestions to improve detection rate［J］.Ultrosound Obstet Gynecol，2003，22：3-10.［4］ Ozcan UA, I?ik U, Dincer A, et al. Identification of fetal precentral gyrus on diffusion weighted MRI［J］.Brain Dev, 2013,35:4-9.［5］ Ronald JW, Christa LM, Brynn L, et al.Chromosomal Microarray versus Karyotyping for Prenatal Diagnosis［J］.N Engl，2012，367（23）：2175-2184. ［6］ Saldarriaga W, Garc?ia-Perdomo HA, Arango-Pineda J, et al. Karyotype versus genomic hybridization for the prenatal diagnosis of chromosomal abnormalities: a metaanalysis［J］.Am J Obstet Gynecol，2015，212:330.e1-10.［7］ American College of Obstetricians and Gynecologists Committee on Genetics. Committee opinion no. 581: the use of chromosomal microarray analysis in prenatal diagnosis［J］.Obstet Gynecol,2013, 122:1374.［8］ Kearney HM,South ST,Wolff DJ,et al.American College of Medical Genetics recommendations for the design and performance expectations for clinical genomic copy number microarrays intended for use in the postnatal setting for detection of constitutional abnormalities［J］.Genet Med,2011,13:676-679.［9］ 染色体微阵列分析技术在产前诊断中的应用协作组.染色体微阵列分析技术在产前诊断中的应用专家共识［J］.中华妇产科杂志，2014，49（8）：570-572.［10］ Howard C,Peter B, Eugene P. Maternal cfDNA screening for Down syndrome- a cost sensitivity analysis［J］.Prenatal Diagnosis，2013,33:636-642.［11］ Sparks AB, Wang ET, Struble CA, et al. Selective analysis of cell-free DNA in maternal blood for evaluation of fetal trisomy［J］.Prenat Diagn，2012，32:3-9.［12］ Chen EZ, Chiu RW, Sun H, et al. Noninvasive prenatal diagnosis of fetal trisomy 18 and trisomy 13 by maternal plasma DNA sequencing［J］.PLoS ONE，2011，6:e21791.［13］ ACOG Committee Opinion No. 545. Noninvasive prenatal testing for fetal aneuploidy［J］.Obstet Gynecol，2012，120:1532-1534.［14］ Anthony RG, Gross ST, Best RG,et al.ACMG statement on noninvasive prenatal screening for fetal aneuploidy［J］.Genet Med，2013，15(5):395-398.［15］ Cuckle H.Cell-free DNA screening for fetal aneuploidy as a clinical service［J］.Clin Biochem，2015, 27 (15 ) ［Epub ahead of print］ ［16］ ISUOG Clinical Standards Committee. ISUOG consensus statement on the impact of non-invasive prenatal testing (NIPT) on prenatal ultrasound practice［J］.Ultrasound Obstet Gynecol, 2014, 44(1):122-123.［17］ Muller F, Dreux S, Dupoizat H, et al. Second-trimester Down syndrome maternal serum screening in twin pregnancies impact of chorionicity［J］.Prenat Diagn，2003，23:331-335.［18］ Lau TK, Jiang F, Chan MK, et al. Non-invasive prenatal screening of fetal Down syndrome by maternal plasma DNA sequencing in twin pregnancies［J］.J Matern Fetal Neonatal Med，2013，26:434-437.［19］ Curnow KJ, Wilkins-Haug L, Ryan A, et al. Detection of triploid, molar, and vanishing twin pregnancies by a single-nucleotide polymorphismebased noninvasive prenatal test［J］.Am J Obstet Gynecol，2015，212:79.e1-9.［20］ Moutou C, Goossens V, Coonen E, et al. ESHRE PGD Consortium data collection XII: cycles from January to December 2009 with pregnancy follow-up to October 2010［J］.Hum Reprod, 2014, 29: 880-903.［21］ Berceanu C, Albu SE, Bo M, et al. Current principles and practice of ethics and law in perinatal medicine［J］.Curr Health Sci J, 2014, 40(3):162-169.（2015-06-02收稿） |
