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2013 | OriginalPaper | Buchkapitel

5. Ersttrimesterscreening

verfasst von : Karl-Oliver Kagan, Prof. Dr. med., Harald Abele, PD Dr., Markus Hoopmann, PD Dr. med.

Erschienen in: Ultraschalldiagnostik in Geburtshilfe und Gynäkologie

Verlag: Springer Berlin Heidelberg

Zusammenfassung

Ein Screeningtest muss grundsätzlich von einem diagnostischen Test unterschieden werden. Mithilfe eines diagnostischen Tests, wie zum Beispiel der Amniozentese oder der Chorionzottenbiopsie, wird eine fetale Chromosomenstörung, wie die Trisomie 21, 18 oder 13 in aller Regel eindeutig erkannt. Diese Tests tragen aber ein Fehlgeburtsrisiko von etwa 0,5 % und sind kostenintensiv (Tabor u. Alfirevic 2010). Demgegenüber stehen Screeningtests, wie das Ersttrimesterscreening, die einerseits nicht mit einem Fehlgeburtsrisiko vergesellschaftet und andererseits kostengünstiger sind. Durch sie wird aber nur das Risiko für das Vorliegen einer entsprechenden Erkrankung ermittelt.
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Zurück zum Zitat Nicolaides KH, Spencer K, Avgidou K, Faiola S, Falcon O (2005) 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 25(3):221–226CrossRefPubMed Nicolaides KH, Spencer K, Avgidou K, Faiola S, Falcon O (2005) 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 25(3):221–226CrossRefPubMed
Zurück zum Zitat Nicolaides KH, Syngelaki A, Ashoor G, Birdir C, Touzet G (2012) Noninvasive prenatal testing for fetal trisomies in a routinely screened first-trimester population. Am J Obstet Gynecol 207(5):374.e1–374.e6CrossRef Nicolaides KH, Syngelaki A, Ashoor G, Birdir C, Touzet G (2012) Noninvasive prenatal testing for fetal trisomies in a routinely screened first-trimester population. Am J Obstet Gynecol 207(5):374.e1–374.e6CrossRef
Zurück zum Zitat Papatheodorou S, Evangelou E, Makrydimas G, Ioannidis J (2011) First-trimester ductus venosus screening for cardiac defects: a meta-analysis. BJOG: an international journal of obstetrics and gynaecology Jun 14 Papatheodorou S, Evangelou E, Makrydimas G, Ioannidis J (2011) First-trimester ductus venosus screening for cardiac defects: a meta-analysis. BJOG: an international journal of obstetrics and gynaecology Jun 14
Zurück zum Zitat Pereira S, Ganapathy R, Syngelaki A, Maiz N, Nicolaides KH (2011) Contribution of fetal tricuspid regurgitation in first-trimester screening for major cardiac defects. Obstetrics and gynecology 117(6):1384–1391CrossRefPubMed Pereira S, Ganapathy R, Syngelaki A, Maiz N, Nicolaides KH (2011) Contribution of fetal tricuspid regurgitation in first-trimester screening for major cardiac defects. Obstetrics and gynecology 117(6):1384–1391CrossRefPubMed
Zurück zum Zitat Persico N, Moratalla J, Lombardi CM, Zidere V, Allan L, Nicolaides KH (2011) Fetal echocardiography at 11–13 weeks by transabdominal high-frequency ultrasound. Ultrasound Obstet Gynecol 37(3):296–301CrossRefPubMed Persico N, Moratalla J, Lombardi CM, Zidere V, Allan L, Nicolaides KH (2011) Fetal echocardiography at 11–13 weeks by transabdominal high-frequency ultrasound. Ultrasound Obstet Gynecol 37(3):296–301CrossRefPubMed
Zurück zum Zitat Plasencia W, Garcia R, Pereira S, Akolekar R, Nicolaides KH (2011) Criteria for Screening and Diagnosis of Gestational Diabetes Mellitus in the First Trimester of Pregnancy. Fetal Diagn Ther Apr 1CrossRefPubMed Plasencia W, Garcia R, Pereira S, Akolekar R, Nicolaides KH (2011) Criteria for Screening and Diagnosis of Gestational Diabetes Mellitus in the First Trimester of Pregnancy. Fetal Diagn Ther Apr 1CrossRefPubMed
Zurück zum Zitat Poon LC, Karagiannis G, Staboulidou I, Shafiei A, Nicolaides KH (2011) Reference range of birth weight with gestation and first-trimester prediction of small-for-gestation neonates. Prenat Diagn 31(1):58–65CrossRefPubMed Poon LC, Karagiannis G, Staboulidou I, Shafiei A, Nicolaides KH (2011) Reference range of birth weight with gestation and first-trimester prediction of small-for-gestation neonates. Prenat Diagn 31(1):58–65CrossRefPubMed
Zurück zum Zitat Poon LC, Karagiannis G, Stratieva V, Syngelaki A, Nicolaides KH (2011) First-trimester prediction of macrosomia. Fetal Diagn Ther 29(2):139–147CrossRefPubMed Poon LC, Karagiannis G, Stratieva V, Syngelaki A, Nicolaides KH (2011) First-trimester prediction of macrosomia. Fetal Diagn Ther 29(2):139–147CrossRefPubMed
Zurück zum Zitat Poon LC, v Kametas NA, Pandeva I, Valencia C, Nicolaides KH (2008) Mean arterial pressure at 11 (+0) to 13 (+6) weeks in the prediction of preeclampsia. Hypertension 51(4):1027–1033CrossRefPubMed Poon LC, v Kametas NA, Pandeva I, Valencia C, Nicolaides KH (2008) Mean arterial pressure at 11 (+0) to 13 (+6) weeks in the prediction of preeclampsia. Hypertension 51(4):1027–1033CrossRefPubMed
Zurück zum Zitat Scazzocchio E, Figueras F (2011) Contemporary prediction of preeclampsia. Curr Opin Obstet Gynecol 23(2):65–71CrossRefPubMed Scazzocchio E, Figueras F (2011) Contemporary prediction of preeclampsia. Curr Opin Obstet Gynecol 23(2):65–71CrossRefPubMed
Zurück zum Zitat Schulte-Vallentin M, Schindler H (1992) Non-echogenic nuchal oedema as a marker in trisomy 21 screening. Lancet 25(339):8800 Schulte-Vallentin M, Schindler H (1992) Non-echogenic nuchal oedema as a marker in trisomy 21 screening. Lancet 25(339):8800
Zurück zum Zitat Senat MV, Frydman R (2007) Increased nuchal translucency with normal karyotype. Gynecol Obstet Fertil 35(6):507–515CrossRefPubMed Senat MV, Frydman R (2007) Increased nuchal translucency with normal karyotype. Gynecol Obstet Fertil 35(6):507–515CrossRefPubMed
Zurück zum Zitat Snijders RJ, Noble P, Sebire N, Souka A, Nicolaides KH (1998) UK multicentre project on assessment of risk of trisomy 21 by maternal age and fetal nuchal-translucency thickness at 10–14 weeks of gestation Fetal Medicine Foundation First Trimester Screening Group. Lancet 352(9125):343–346CrossRefPubMed Snijders RJ, Noble P, Sebire N, Souka A, Nicolaides KH (1998) UK multicentre project on assessment of risk of trisomy 21 by maternal age and fetal nuchal-translucency thickness at 10–14 weeks of gestation Fetal Medicine Foundation First Trimester Screening Group. Lancet 352(9125):343–346CrossRefPubMed
Zurück zum Zitat Snijders RJ, Sebire NJ, Nicolaides KH (1995) Maternal age and gestational age-specific risk for chromosomal defects. Fetal Diagn Ther 10(6):356–367CrossRefPubMed Snijders RJ, Sebire NJ, Nicolaides KH (1995) Maternal age and gestational age-specific risk for chromosomal defects. Fetal Diagn Ther 10(6):356–367CrossRefPubMed
Zurück zum Zitat Souka AP, Von Kaisenberg CS, Hyett JA, Sonek JD, Nicolaides KH (2005) Increased nuchal translucency with normal karyotype. Am J Obstet Gynecol 192(4):1005–1021CrossRefPubMed Souka AP, Von Kaisenberg CS, Hyett JA, Sonek JD, Nicolaides KH (2005) Increased nuchal translucency with normal karyotype. Am J Obstet Gynecol 192(4):1005–1021CrossRefPubMed
Zurück zum Zitat Spencer K, Bindra R, Nix AB, Heath V, Nicolaides KH (2003) Delta-NT or NT MoM: which is the most appropriate method for calculating accurate patient-specific risks for trisomy 21 in the first trimester? Ultrasound Obstet Gynecol 22(2):142–148CrossRefPubMed Spencer K, Bindra R, Nix AB, Heath V, Nicolaides KH (2003) Delta-NT or NT MoM: which is the most appropriate method for calculating accurate patient-specific risks for trisomy 21 in the first trimester? Ultrasound Obstet Gynecol 22(2):142–148CrossRefPubMed
Zurück zum Zitat Spencer K, Cowans NJ, Avgidou K, Nicolaides KH (2006) First-trimester ultrasound and biochemical markers of aneuploidy and the prediction of impending fetal death. Ultrasound Obstet Gynecol 28(5):637–643CrossRefPubMed Spencer K, Cowans NJ, Avgidou K, Nicolaides KH (2006) First-trimester ultrasound and biochemical markers of aneuploidy and the prediction of impending fetal death. Ultrasound Obstet Gynecol 28(5):637–643CrossRefPubMed
Zurück zum Zitat Spencer K, Kagan KO, Nicolaides KH (2008) Screening for trisomy 21 in twin pregnancies in the first trimester: an update of the impact of chorionicity on maternal serum markers. Prenat Diagn 28(1):49–52CrossRefPubMed Spencer K, Kagan KO, Nicolaides KH (2008) Screening for trisomy 21 in twin pregnancies in the first trimester: an update of the impact of chorionicity on maternal serum markers. Prenat Diagn 28(1):49–52CrossRefPubMed
Zurück zum Zitat Spencer K, Nicolaides KH (2003) Screening for trisomy 21 in twins using first trimester ultrasound and maternal serum biochemistry in a one-stop clinic: a review of three years experience. BJOG 110(3):276–280CrossRefPubMed Spencer K, Nicolaides KH (2003) Screening for trisomy 21 in twins using first trimester ultrasound and maternal serum biochemistry in a one-stop clinic: a review of three years experience. BJOG 110(3):276–280CrossRefPubMed
Zurück zum Zitat Syngelaki A, Chelemen T, Dagklis T, Allan L, Nicolaides KH (2011) Challenges in the diagnosis of fetal non-chromosomal abnormalities at 11–13 weeks. Prenat Diagn 31(1):90–102CrossRefPubMed Syngelaki A, Chelemen T, Dagklis T, Allan L, Nicolaides KH (2011) Challenges in the diagnosis of fetal non-chromosomal abnormalities at 11–13 weeks. Prenat Diagn 31(1):90–102CrossRefPubMed
Zurück zum Zitat Szabo J, Gellen J (1990) Nuchal fluid accumulation in trisomy-21 detected by vaginosonography in first trimester Lancet Nov 3: 336 (8723): 1133 Szabo J, Gellen J (1990) Nuchal fluid accumulation in trisomy-21 detected by vaginosonography in first trimester Lancet Nov 3: 336 (8723): 1133
Zurück zum Zitat Tabor A, Alfirevic Z (2010) Update on procedure-related risks for prenatal diagnosis techniques. Fetal Diagn Ther 27(1):1–7CrossRefPubMed Tabor A, Alfirevic Z (2010) Update on procedure-related risks for prenatal diagnosis techniques. Fetal Diagn Ther 27(1):1–7CrossRefPubMed
Zurück zum Zitat Tabor A, Vestergaard CH, Lidegaard O (2009) Fetal loss rate after chorionic villus sampling and amniocentesis: an 11-year national registry study. Ultrasound Obstet Gynecol 34(1):19–24CrossRefPubMed Tabor A, Vestergaard CH, Lidegaard O (2009) Fetal loss rate after chorionic villus sampling and amniocentesis: an 11-year national registry study. Ultrasound Obstet Gynecol 34(1):19–24CrossRefPubMed
Zurück zum Zitat Tegnander E, Williams W, Johansen OJ, Blaas HG, Eik-Nes SH (2006) Prenatal detection of heart defects in a non-selected population of 30,149 fetuses – detection rates and outcome. Ultrasound Obstet Gynecol 27(3):252–265CrossRefPubMed Tegnander E, Williams W, Johansen OJ, Blaas HG, Eik-Nes SH (2006) Prenatal detection of heart defects in a non-selected population of 30,149 fetuses – detection rates and outcome. Ultrasound Obstet Gynecol 27(3):252–265CrossRefPubMed
Zurück zum Zitat The Fetal Medicine Foundation. www. fetalmedicine. com, aufgerufen am 212012 The Fetal Medicine Foundation. www. fetalmedicine. com, aufgerufen am 212012
Zurück zum Zitat To MS, Skentou CA, Royston P, Yu CK, Nicolaides KH (2006) Prediction of patient-specific risk of early preterm delivery using maternal history and sonographic measurement of cervical length: a population-based prospective study. Ultrasound Obstet Gynecol 27(4):362–367CrossRefPubMed To MS, Skentou CA, Royston P, Yu CK, Nicolaides KH (2006) Prediction of patient-specific risk of early preterm delivery using maternal history and sonographic measurement of cervical length: a population-based prospective study. Ultrasound Obstet Gynecol 27(4):362–367CrossRefPubMed
Zurück zum Zitat Wald NJ, Rodeck C, Hackshaw AK, Walters J, Chitty L, Mackinson AM (2003) First and second trimester antenatal screening for Down’s syndrome: the results of the Serum Urine and Ultrasound Screening Study (SURUSS). J Med Screen 10(2):56–104PubMed Wald NJ, Rodeck C, Hackshaw AK, Walters J, Chitty L, Mackinson AM (2003) First and second trimester antenatal screening for Down’s syndrome: the results of the Serum Urine and Ultrasound Screening Study (SURUSS). J Med Screen 10(2):56–104PubMed
Zurück zum Zitat Wright D, Kagan KO, Molina FS, Gazzoni A, Nicolaides KH (2008) A mixture model of nuchal translucency thickness in screening for chromosomal defects. Ultrasound Obstet Gynecol 31(4):376–383CrossRefPubMed Wright D, Kagan KO, Molina FS, Gazzoni A, Nicolaides KH (2008) A mixture model of nuchal translucency thickness in screening for chromosomal defects. Ultrasound Obstet Gynecol 31(4):376–383CrossRefPubMed
Zurück zum Zitat Wright D, Spencer K, Kagan KK, Tørring N, Petersen OB, Christou A, Kallikas J, Nicolaides KH (2010) First-trimester combined screening for trisomy 21 at 7–14 weeks’ gestation. Ultrasound Obstet Gynecol 36(4):404–411CrossRefPubMed Wright D, Spencer K, Kagan KK, Tørring N, Petersen OB, Christou A, Kallikas J, Nicolaides KH (2010) First-trimester combined screening for trisomy 21 at 7–14 weeks’ gestation. Ultrasound Obstet Gynecol 36(4):404–411CrossRefPubMed
Zurück zum Zitat Wright D, Syngelaki A, Staboulidou I, Cruz Jde J, Nicolaides KH (2011) Screening for trisomies in dichorionic twins by measurement of fetal nuchal translucency thickness according to the mixture model. Prenat Diagn 31(1):16–21CrossRefPubMed Wright D, Syngelaki A, Staboulidou I, Cruz Jde J, Nicolaides KH (2011) Screening for trisomies in dichorionic twins by measurement of fetal nuchal translucency thickness according to the mixture model. Prenat Diagn 31(1):16–21CrossRefPubMed
Metadaten
Titel
Ersttrimesterscreening
verfasst von
Karl-Oliver Kagan, Prof. Dr. med.
Harald Abele, PD Dr.
Markus Hoopmann, PD Dr. med.
Copyright-Jahr
2013
Verlag
Springer Berlin Heidelberg
DOI
https://doi.org/10.1007/978-3-642-29633-8_5

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