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Review Article| Volume 30, ISSUE 3, P605-611, September 2010

Clinical Implications of First-Trimester Screening

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      References

        • Avgidou K.
        • Papageorghiou A.
        • Bindra R.
        • et al.
        Prospective first-trimester screening for Trisomy 21 in 30,564 pregnancies.
        Am J Obstet Gynecol. 2005; 192: 1761-1767
        • Malone F.D.
        • Canick J.A.
        • Ball R.H.
        • et al.
        First-trimester or second-trimester screening, or both, for Down's syndrome.
        N Engl J Med. 2005; 353: 2001-2011
        • ACOG Committee on Practice Bulletins—Obstetrics
        Screening for fetal chromosomal abnormalities.
        (ACOG Practice Bulletin #27) The American College of Obstetricians and Gynecologists, Washington, DC2001
        • ACOG Committee on Practice Bulletins—Obstetrics
        Screening for fetal chromosomal abnormalities.
        (ACOG Practice Bulletin #27) The American College of Obstetricians and Gynecologists, Washington, DC2007
        • Driscoll D.A.
        • Morgan M.A.
        • Schulkin J.
        Screening for Down syndrome: changing practice of obstetricians.
        Am J Obstet Gynecol. 2009; 200 (e1–9): 459
        • Boyd P.A.
        • Devigan C.
        • Khoshnood B.
        • et al.
        Survey of prenatal screening policies in Europe for structural malformations and chromosome anomalies, and their impact on detection and termination rates for neural tube defects and Down's syndrome.
        BJOG. 2008; 115: 689-696
        • Nadler H.L.
        • Gerbie A.B.
        Role of amniocentesis in the intrauterine detection of genetic disorders.
        N Engl J Med. 1970; 282: 596-599
        • Simoni G.
        • Brambati B.
        • Danesino C.
        • et al.
        Efficient direct chromosome analyses and enzyme determinations from chorionic villi samples in the first trimester of pregnancy.
        Hum Genet. 1983; 63: 349-357
        • Merkatz I.R.
        • Nitowsky H.M.
        • Macri J.N.
        • et al.
        An association between low maternal serum alpha-fetoprotein and fetal chromosomal abnormalities.
        Am J Obstet Gynecol. 1984; 148: 886-894
        • Phillips O.P.
        • Elias S.
        • Shulman L.P.
        • et al.
        Maternal serum screening for fetal Down syndrome in women less than 35 years of age using alpha-fetoprotein, hCG, and unconjugated estriol: a prospective 2-year study.
        Obstet Gynecol. 1992; 80: 353-358
        • Haddow J.E.
        • Palomaki G.E.
        • Knight G.J.
        • et al.
        Reducing the need for amniocentesis in women 35 years of age or older with serum markers for screening.
        N Engl J Med. 1994; 330: 1114-1118
        • Benacerraf B.R.
        • Frigoletto Jr., F.D.
        • Laboda L.A.
        Sonographic diagnosis of Down syndrome in the second trimester.
        Am J Obstet Gynecol. 1985; 153: 49-52
        • Cheffins T.
        • Chan A.
        • Haan E.A.
        • et al.
        The impact of maternal serum screening on the birth prevalence of Down's syndrome and the use of amniocentesis and chorionic villus sampling in South Australia.
        BJOG. 2000; 107: 1453-1459
        • Benn P.A.
        • Fang M.
        • Egan J.F.
        Trends in the use of second trimester maternal serum screening from 1991 to 2003.
        Genet Med. 2005; 7: 328-331
        • Perni S.C.
        • Predanic M.
        • Kalish R.B.
        • et al.
        Clinical use of first-trimester aneuploidy screening in a United States population can replicate data from clinical trials.
        Am J Obstet Gynecol. 2006; 195: 236-239
        • Chasen S.T.
        • Sharma G.
        • Kalish R.B.
        • et al.
        First-trimester screening for aneuploidy with fetal nuchal translucency in a United States population.
        Ultrasound Obstet Gynecol. 2003; 22: 149-151
        • Chasen S.T.
        • McCullough L.B.
        • Chervenak F.A.
        Is nuchal translucency screening associated with different rates of invasive testing in an older obstetric population?.
        Am J Obstet Gynecol. 2004; 190: 769-774
        • Fang Y.M.
        • Benn P.
        • Campbell W.
        • et al.
        Down syndrome screening in the United States in 2001 and 2007: a survey of maternal-fetal medicine specialists.
        Am J Obstet Gynecol. 2009; 201 (e1–5): 97
        • Muller P.R.
        • Cocciolone R.
        • Haan E.A.
        • et al.
        Trends in state/population-based Down syndrome screening and invasive prenatal testing with the introduction of first-trimester combined Down syndrome screening, South Australia, 1995–2005.
        Am J Obstet Gynecol. 2007; 196 (e1–7): 315
        • Mansfield C.
        • Hopfer S.
        • Marteau T.M.
        Termination rates after prenatal diagnosis of Down syndrome, spina bifida, anencephaly, and Turner and Klinefelter syndromes: a systematic literature review.
        Prenat Diagn. 1999; 19: 808-812
        • Morris J.K.
        • Alberman E.
        Trends in Down's syndrome live births and antenatal diagnoses in England and Wales from 1989 to 2008: analysis of data from the National Down Syndrome Cytogenetic Register.
        BMJ. 2009; 339: b3794
        • Jou H.J.
        • Kuo Y.S.
        • Hsu J.J.
        • et al.
        The evolving national birth prevalence of Down syndrome in Taiwan. A study on the impact of second-trimester maternal serum screening.
        Prenat Diagn. 2005; 25: 665-670
        • Pazol K.
        • Gamble S.B.
        • Parker W.Y.
        • et al.
        Centers for Disease Control and Prevention (CDC). Abortion surveillance—United States, 2006.
        MMWR Surveill Summ. 2009; 58: 1-35
        • Jones R.K.
        • Zolna M.R.
        • Henshaw S.K.
        • et al.
        Abortion in the United States: incidence and access to services, 2005.
        Perspect Sex Reprod Health. 2008; 40: 6-16
        • Chasen S.T.
        • Kalish R.B.
        • Chervenak F.A.
        Gestational age at abortion: the impact of first-trimester risk assessment for aneuploidy.
        Am J Obstet Gynecol. 2006; 195: 839-842
        • Kalish R.B.
        • Thaler H.T.
        • Chasen S.T.
        • et al.
        First- and second-trimester ultrasound assessment of gestational age.
        Am J Obstet Gynecol. 2004; 191: 975-978
        • Ewigman B.G.
        • Crane J.P.
        • Frigoletto F.D.
        • et al.
        Effect of prenatal ultrasound screening on perinatal outcome. RADIUS Study Group.
        N Engl J Med. 1993; 329: 821-827
        • Lee Y.M.
        • Cleary-Goldman J.
        • Thaker H.M.
        • et al.
        Antenatal sonographic prediction of twin chorionicity.
        Am J Obstet Gynecol. 2006; 195: 863-867
        • Timor-Tritsch I.E.
        • Fuchs K.M.
        • Monteagudo A.
        • et al.
        Performing a fetal anatomy scan at the time of first-trimester screening.
        Obstet Gynecol. 2009; 113: 402-407
        • Clur S.A.
        • Ottenkamp J.
        • Bilardo C.M.
        The nuchal translucency and the fetal heart: a literature review.
        Prenat Diagn. 2009; 29: 739-748
        • Chasen S.T.
        • Kalish R.B.
        Abortion for structural anomalies: the impact of early ultrasound.
        Am J Obstet Gynecol. 2009; 201: S156
        • Dugoff L.
        • Hobbins J.C.
        • Malone F.D.
        • et al.
        First-trimester maternal serum PAPP-A and free-beta subunit human chorionic gonadotropin concentrations and nuchal translucency are associated with obstetric complications: a population-based screening study (the FASTER Trial).
        Am J Obstet Gynecol. 2004; 191: 1446-1451
        • Goetzl L.
        • Krantz D.
        • Simpson J.L.
        • et al.
        Pregnancy-associated plasma protein A, free beta-hCG, nuchal translucency, and risk of pregnancy loss.
        Obstet Gynecol. 2004; 104: 30-36
        • Chasen S.T.
        • Martinucci S.
        • Perni S.C.
        • et al.
        First-trimester biochemistry and outcomes in twin pregnancy.
        J Reprod Med. 2009; 54: 312-314