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Frauenheilkunde up2date 2015; 9(04): 243-255
DOI: 10.1055/s-0033-1358169
Geburtshilfe und Perinatalmedizin
Georg Thieme Verlag KG Stuttgart · New York

Update Ersttrimesterscreening – was ist neu in 2015?

Stefan Verlohren
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Publication Date:
24 August 2015 (online)

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Kernaussagen

Der Ultraschall ist die zentrale Komponente des Ersttrimesterscreenings – und wird es auch weiterhin bleiben. Denn die Ultraschalldiagnostik kann neben der Embryosonografie auch bereits im 1. Trimester drohende Schwangerschaftskomplikationen wie Spina bifida, große Herzfehler oder das Risiko auf Präeklampsie entdecken. Gerade im letzteren Fall kann der risikoadaptierte frühzeitige Beginn einer Aspirin-Prophylaxe zu einer substanziellen Reduktion der PE-bedingten Komplikationen beitragen. Auch wenn die Kosten für NIPT vermutlich weiterhin sinken werden, ist noch offen, ob das Verfahren dem ETS überhaupt vorgeschaltet werden sollte.

Durch das ETS wurde die „Pyramide der Schwangerenvorsorge“ umgekehrt und ist vielerorts mittlerweile akzeptiert und in die Praxis umgesetzt. Zusätzlich kommen die zunehmende Individualisierung der Risikovorhersage und dadurch auch maßgeschneiderte Interventionen den Patientinnen zugute.

 

  • Literatur

  • 1 Lo YM, Corbetta N, Chamberlain PF et al. Presence of fetal DNA in maternal plasma and serum. Lancet 1997; 350: 485-487
    CrossrefGoogle Scholar
  • 2 Lo YM, Lun FM, Chan KC et al. Digital PCR for the molecular detection of fetal chromosomal aneuploidy. Proc Natl Acad Sci U S A 2007; 104: 13116-13121
    CrossrefGoogle Scholar
  • 3 Everett TR, Chitty LS. Cell-free fetal DNA: the new tool in fetal medicine. Ultrasound Obstet Gynecol 2015; 45: 499-507
    CrossrefGoogle Scholar
  • 4 Fan HC, Blumenfeld YJ, Chitkara U et al. Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood. Proc Natl Acad Sci U S A 2008; 105: 16266-16271
    CrossrefGoogle Scholar
  • 5 Norton ME, Jacobsson B, Swamy GK et al. Cell-free DNA analysis for noninvasive examination of trisomy. N Engl J Med 2015; 372: 1589-1597
    CrossrefGoogle Scholar
  • 6 Gil MM, Quezada MS, Revello R et al. Analysis of cell-free DNA in maternal blood in screening for fetal aneuploidies: updated meta-analysis. Ultrasound Obstet Gynecol 2015; 45: 249-266
    CrossrefGoogle Scholar
  • 7 Boon EM, Faas BH. Benefits and limitations of whole genome versus targeted approaches for noninvasive prenatal testing for fetal aneuploidies. Prenat Diagn 2013; 33: 563-568
    CrossrefGoogle Scholar
  • 8 Lo YM, Tein MS, Lau TK et al. Quantitative analysis of fetal DNA in maternal plasma and serum: implications for noninvasive prenatal diagnosis. Am J Hum Genet 1998; 62: 768-775
    CrossrefGoogle Scholar
  • 9 Wang E, Batey A, Struble C et al. Gestational age and maternal weight effects on fetal cell-free DNA in maternal plasma. Prenat Diagn 2013; 33: 662-666
    CrossrefGoogle Scholar
  • 10 Ashoor G, Syngelaki A, Poon LCY et al. Fetal fraction in maternal plasma cell-free DNA at 11–13 weeks gestation: relation to maternal and fetal characteristics. Ultrasound Obstet Gynecol 2012; 41: 26-32
    Google Scholar
  • 11 Rava RP, Srinivasan A, Sehnert AJ et al. Circulating fetal cell-free DNA fractions differ in autosomal aneuploidies and monosomy X. Clin Chem 2014; 60: 243-250
    CrossrefGoogle Scholar
  • 12 Kagan KO, Eiben B, Kozlowski P. [Combined first trimester screening and cell-free fetal DNA – “next generation screening”]. Ultraschall Med 2014; 35: 229-236
    Article in Thieme ConnectGoogle Scholar
  • 13 Wang J-C, Sahoo T, Schonberg S et al. Discordant noninvasive prenatal testing and cytogenetic results: a study of 109 consecutive cases. Genet Med 2015; 17: 234-236
    CrossrefPubMedGoogle Scholar
  • 14 Wang Y, Chen Y, Tian F et al. Maternal mosaicism is a significant contributor to discordant sex chromosomal aneuploidies associated with noninvasive prenatal testing. Clin Chem 2014; 60: 251-259
    CrossrefPubMedGoogle Scholar
  • 15 Osborne CM, Hardisty E, Devers P et al. Discordant noninvasive prenatal testing results in a patient subsequently diagnosed with metastatic disease. Prenat Diagn 2013; 33: 609-611
    CrossrefGoogle Scholar
  • 16 Lau TK, Jiang FM, Stevenson RJ et al. Secondary findings from non-invasive prenatal testing for common fetal aneuploidies by whole genome sequencing as a clinical service. Prenat Diagn 2013; 33: 602-608
    CrossrefGoogle Scholar
  • 17 Nicolaides KH, Spencer K, Avgidou K et al. Multicenter study of first-trimester screening for trisomy 21 in 75 821 pregnancies: results and estimation of the potential impact of individual risk-orientated two-stage first-trimester screening. Ultrasound Obstet Gynecol 2005; 25: 221-226
    CrossrefPubMedGoogle Scholar
  • 18 Merz E, Thode C, Eiben B et al. Individualized correction for maternal weight in calculating the risk of chromosomal abnormalities with first-trimester screening data. Ultraschall Med 2011; 32: 33-39
    Article in Thieme ConnectPubMedGoogle Scholar
  • 19 Maiz N, Valencia C, Kagan KO et al. Ductus venosus Doppler in screening for trisomies 21, 18 and 13 and Turner syndrome at 11–13 weeks of gestation. Ultrasound Obstet Gynecol 2009; 33: 512-517
    CrossrefGoogle Scholar
  • 20 Kagan KO, Hoopmann M, Abele H et al. First-trimester combined screening for trisomy 21 with different combinations of placental growth factor, free β-human chorionic gonadotropin and pregnancy-associated plasma protein-A. Ultrasound Obstet Gynecol 2012; 40: 530-535
    CrossrefPubMedGoogle Scholar
  • 21 Kagan KO, Staboulidou I, Cruz J et al. Two-stage first-trimester screening for trisomy 21 by ultrasound assessment and biochemical testing. Ultrasound Obstet Gynecol 2010; 36: 542-547
    CrossrefGoogle Scholar
  • 22 Gil MM, Giunta G, Macalli EA et al. UK NHS pilot study on cell-free DNA testing in screening for fetal trisomies: factors affecting uptake. Ultrasound Obstet Gynecol 2015; 45: 67-73
    CrossrefGoogle Scholar
  • 23 Axt-Fliedner R, Chiriac A, Gembruch U. First and early second trimester fetal heart scanning. Ultraschall Med 2009; 30: 364-375
    Article in Thieme ConnectGoogle Scholar
  • 24 Syngelaki A, Chelemen T, Dagklis T et al. Challenges in the diagnosis of fetal non-chromosomal abnormalities at 11–13 weeks. Prenat Diagn 2011; 31: 90-102
    CrossrefPubMedGoogle Scholar
  • 25 Ghi T, Huggon IC, Zosmer N et al. Incidence of major structural cardiac defects associated with increased nuchal translucency but normal karyotype. Ultrasound Obstet Gynecol 2001; 18: 610-614
    CrossrefGoogle Scholar
  • 26 Clur SA, Ottenkamp J, Bilardo CM. The nuchal translucency and the fetal heart: a literature review. Prenat Diagn 2009; 29: 739-748
    CrossrefGoogle Scholar
  • 27 Papatheodorou SI, Evangelou E, Makrydimas G et al. First-trimester ductus venosus screening for cardiac defects: a meta-analysis. BJOG 2011; 118: 1438-1445
    CrossrefPubMedGoogle Scholar
  • 28 Chaoui R, Benoit B, Mitkowska-Wozniak H et al. Assessment of intracranial translucency (IT) in the detection of spina bifida at the 11–13-week scan. Ultrasound Obstet Gynecol 2009; 34: 249-252
    PubMedGoogle Scholar
  • 29 Chen F, Gerhardt J, Entezami M et al. Detection of spina bifida by first trimester screening – results of the prospective multicenter Berlin IT-Study. Ultraschall Med 2015; [Epub ahead of print]
    Google Scholar
  • 30 Nicolaides KH. Turning the pyramid of prenatal care. Fetal Diagn Ther 2011; 29: 183-196
    CrossrefGoogle Scholar
  • 31 Wright D, Akolekar R, Syngelaki A et al. A competing risks model in early screening for preeclampsia. Fetal Diagn Ther 2012; 32: 171-178
    CrossrefGoogle Scholar
  • 32 Akolekar R, Syngelaki A, Poon L et al. Competing risks model in early screening for preeclampsia by biophysical and biochemical markers. Fetal Diagn Ther 2013; 33: 8-15
    CrossrefGoogle Scholar
  • 33 Bujold E, Roberge S, Lacasse Y et al. Prevention of preeclampsia and intrauterine growth restriction with aspirin started in early pregnancy: a meta-analysis. Obstet Gynecol 2010; 116: 402-414
    CrossrefPubMedGoogle Scholar
  • 34 Rodger MA, Hague WM, Kingdom J et al. TIPPS Investigators. Antepartum dalteparin versus no antepartum dalteparin for the prevention of pregnancy complications in pregnant women with thrombophilia (TIPPS): a multinational open-label randomised trial. Lancet 2014; 384: 1673-1683
    CrossrefGoogle Scholar
  • 35 Verlohren S, Herraiz I, Lapaire O et al. New gestational phase-specific cutoff values for the use of the soluble fms-like tyrosine kinase-1/placental growth factor ratio as a diagnostic test for preeclampsia. Hypertension 2014; 63: 346-352
    CrossrefGoogle Scholar
  • 36 Stepan H, Herraiz I, Schlembach D et al. Implementation of the sFlt-1/PlGF ratio for prediction and diagnosis of pre-eclampsia in singleton pregnancy: implications for clinical practice. Ultrasound Obstet Gynecol 2015; 45: 241-246
    CrossrefGoogle Scholar