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2018 | OriginalPaper | Buchkapitel

5. Ersttrimesterscreening

verfasst von : Prof. Dr. med. MHBA K.-O. Kagan, PD Dr. med. H. Abele, Prof. Dr. med. M. Hoopmann

Erschienen in: Ultraschalldiagnostik in Geburtshilfe und Gynäkologie

Verlag: Springer Berlin Heidelberg

Zusammenfassung

Das Ersttrimesterscreening hat sich in den vergangenen Jahren dramatisch verändert. War es zu Beginn nur als Screeningtest für Trisomie 21 gedacht, ist es heute eine umfassende Risikoanalyse für zahlreiche Komplikationen in der Schwangerschaft. So können heute im Rahmen des Ersttrimesterscreenings etwa die Hälfte aller Fehlbildungen erkannt und die Risiken für Präeklampsie, Frühgeburt und zahlreiche weitere Schwangerschaftskomplikationen ermittelt werden. Das eigentliche kombinierte Screening auf Trisomie 21 basierend auf dem mütterlichem Altersrisiko, der fetalen Nackentransparenz und den Serummarkern freies beta-hCG und PAPP-A rückt dabei in den Hintergrund und wurde in den vergangenen Jahren zunehmend durch die zellfreie DNA-Analyse aus dem mütterlichen Blut abgelöst.
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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: 296–301 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: 296–301
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 30: 108–15 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 30: 108–15
Zurück zum Zitat Poon LC, Nicolaides KH (2014) First-trimester maternal factors and biomarker screening for preeclampsia. Prenat Diagn 34: 618–627 Poon LC, Nicolaides KH (2014) First-trimester maternal factors and biomarker screening for preeclampsia. Prenat Diagn 34: 618–627
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: 1027–1033 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: 1027–1033
Zurück zum Zitat Poon LC, Karagiannis G, Stratieva V, Syngelaki A, Nicolaides KH (2011) Firsttrimester prediction of macrosomia. Fetal Diagn Ther 29: 139–147 Poon LC, Karagiannis G, Stratieva V, Syngelaki A, Nicolaides KH (2011) Firsttrimester prediction of macrosomia. Fetal Diagn Ther 29: 139–147
Zurück zum Zitat Prats P, Rodríguez I, Comas C, Puerto B (2014) Systematic review of screening for trisomy 21 in twin pregnancies in first trimester combining nuchal translucency and biochemical markers: a meta-analysis. Prenat Diagn 34: 1077–1083 Prats P, Rodríguez I, Comas C, Puerto B (2014) Systematic review of screening for trisomy 21 in twin pregnancies in first trimester combining nuchal translucency and biochemical markers: a meta-analysis. Prenat Diagn 34: 1077–1083
Zurück zum Zitat Roberge S, Nicolaides KH, Demers S, Villa P, Bujold E (2013) Prevention of perinatal death and adverse perinatal outcome using low-dose aspirin: a meta-analysis. Ultrasound Obstet Gynecol 41: 491–499 Roberge S, Nicolaides KH, Demers S, Villa P, Bujold E (2013) Prevention of perinatal death and adverse perinatal outcome using low-dose aspirin: a meta-analysis. Ultrasound Obstet Gynecol 41: 491–499
Zurück zum Zitat Rolnik DL, Wright D, Poon LC, O’Gorman N, Syngelaki A, de Paco Matallana C, Akolekar R, Cicero S, Janga D, Singh M, Molina FS, Persico N, Jani JC, Plasencia W, Papaioannou G, Tenenbaum-Gavish K, Meiri H, Gizurarson S, Maclagan K, Nicolaides KH (2017a) Aspirin versus placebo in pregnancies at high risk for preterm preeclampsia. N Engl J Med doi: 10.1056/NEJMoa1704559. [Epub ahead of print] Rolnik DL, Wright D, Poon LC, O’Gorman N, Syngelaki A, de Paco Matallana C, Akolekar R, Cicero S, Janga D, Singh M, Molina FS, Persico N, Jani JC, Plasencia W, Papaioannou G, Tenenbaum-Gavish K, Meiri H, Gizurarson S, Maclagan K, Nicolaides KH (2017a) Aspirin versus placebo in pregnancies at high risk for preterm preeclampsia. N Engl J Med doi: 10.​1056/​NEJMoa1704559. [Epub ahead of print]
Zurück zum Zitat Rolnik DL, Wright D, Poon LC, Syngelaki A, O’Gorman N, de Paco Matallana C, Akolekar R, Cicero S, Janga D, Singh M, Molina FS, Persico N, Jani JC, Plasencia W, Papaioannou G, Tenenbaum-Gavish K, Nicolaides KH (2017b) ASPRE trial: performance of screening for preterm pre-eclampsia. Ultrasound Obstet Gynecol doi: 10.1002/uog.18816. [Epub ahead of print] Rolnik DL, Wright D, Poon LC, Syngelaki A, O’Gorman N, de Paco Matallana C, Akolekar R, Cicero S, Janga D, Singh M, Molina FS, Persico N, Jani JC, Plasencia W, Papaioannou G, Tenenbaum-Gavish K, Nicolaides KH (2017b) ASPRE trial: performance of screening for preterm pre-eclampsia. Ultrasound Obstet Gynecol doi: 10.​1002/​uog.​18816. [Epub ahead of print]
Zurück zum Zitat Salomon LJ, Alfirevic Z, Audibert F, Kagan KO, Paladini D, Yeo G, Raine-Fenning N, on behalf of the ISUOG Clinical Standards Committee (2014) ISUOG consensus statement on the impact of non-invasive prenatal testing (NIPT) on prenatal ultrasound practice. Ultrasound Obstet Gynecol 44: 122–123 Salomon LJ, Alfirevic Z, Audibert F, Kagan KO, Paladini D, Yeo G, Raine-Fenning N, on behalf of the ISUOG Clinical Standards Committee (2014) ISUOG consensus statement on the impact of non-invasive prenatal testing (NIPT) on prenatal ultrasound practice. Ultrasound Obstet Gynecol 44: 122–123
Zurück zum Zitat Scazzocchio E, Figueras F (2011) Contemporary prediction of preeclampsia. Curr Opin Obstet Gynecol 23: 65–71 Scazzocchio E, Figueras F (2011) Contemporary prediction of preeclampsia. Curr Opin Obstet Gynecol 23: 65–71
Zurück zum Zitat Schmid M, Klaritsch P, Arzt W, Burkhardt T, Duba HC, Häusler M, Hafner E, Lang U, Pertl B, Speicher M, Steiner H, Tercanli S, Merz E, Heling KS, Eiben B (2015) Cell-Free DNA testing for fetal chromosomal anomalies in clinical practice: Austrian-German-Swiss recommendations for non-invasive prenatal tests (NIPT). Ultraschall Med 36: 507–510 Schmid M, Klaritsch P, Arzt W, Burkhardt T, Duba HC, Häusler M, Hafner E, Lang U, Pertl B, Speicher M, Steiner H, Tercanli S, Merz E, Heling KS, Eiben B (2015) Cell-Free DNA testing for fetal chromosomal anomalies in clinical practice: Austrian-German-Swiss recommendations for non-invasive prenatal tests (NIPT). Ultraschall Med 36: 507–510
Zurück zum Zitat Schulte-Vallentin M, Schindler H (1992) Non-echogenic nuchal oedema as a marker in trisomy 21 screening. Lancet 25: 8800 Schulte-Vallentin M, Schindler H (1992) Non-echogenic nuchal oedema as a marker in trisomy 21 screening. Lancet 25: 8800
Zurück zum Zitat Senat MV, Frydman R (2007) Increased nuchal translucency with normal karyotype. Gynecol Obstet Fertil 35: 507–515 Senat MV, Frydman R (2007) Increased nuchal translucency with normal karyotype. Gynecol Obstet Fertil 35: 507–515
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: 343–346 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: 343–346
Zurück zum Zitat Snijders RJ, Sebire NJ, Nicolaides KH (1995) Maternal age and gestational agespecific risk for chromosomal defects. Fetal Diagn Ther 10: 356–367 Snijders RJ, Sebire NJ, Nicolaides KH (1995) Maternal age and gestational agespecific risk for chromosomal defects. Fetal Diagn Ther 10: 356–367
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: 1005–1021 Souka AP, Von Kaisenberg CS, Hyett JA, Sonek JD, Nicolaides KH (2005) Increased nuchal translucency with normal karyotype. Am J Obstet Gynecol 192: 1005–1021
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: 276–280 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: 276–280
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: 637–643 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: 637–643
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: 49–52 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: 49–52
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: 90–102 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: 90–102
Zurück zum Zitat Syngelaki A, Pastides A, Kotecha R, Wright A, Akolekar R, Nicolaides KH (2015) First-trimester screening for gestational diabetes mellitus based on maternal characteristics and history. Fetal Diagn Ther 38: 14–21 Syngelaki A, Pastides A, Kotecha R, Wright A, Akolekar R, Nicolaides KH (2015) First-trimester screening for gestational diabetes mellitus based on maternal characteristics and history. Fetal Diagn Ther 38: 14–21
Zurück zum Zitat Szabo J, Gellen J (1990) Nuchal fluid accumulation in trisomy-21 detected by vaginosonography in first trimester Lancet 336: 1133 Szabo J, Gellen J (1990) Nuchal fluid accumulation in trisomy-21 detected by vaginosonography in first trimester Lancet 336: 1133
Zurück zum Zitat Tabor A, Alfirevic Z (2010) Update on procedure-related risks for prenatal diagnosis techniques. Fetal Diagn Ther 27: 1–7 Tabor A, Alfirevic Z (2010) Update on procedure-related risks for prenatal diagnosis techniques. Fetal Diagn Ther 27: 1–7
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: 252–265 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: 252–265
Zurück zum Zitat Wagner P, Sonek J, Hoopmann M, Abele H, Kagan KO (2016) First-trimester screening for trisomy 18, 13, triploidy and Turner syndrome by a detailed early anomaly scan. Ultrasound Obstet Gynecol 48: 446–451 Wagner P, Sonek J, Hoopmann M, Abele H, Kagan KO (2016) First-trimester screening for trisomy 18, 13, triploidy and Turner syndrome by a detailed early anomaly scan. Ultrasound Obstet Gynecol 48: 446–451
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: 56–104 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: 56–104
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: 376–383 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: 376–383
Zurück zum Zitat Wright D, Bradbury I, Malone F, D’Alton M, Summers A, Huang T, Ball S, Baker A, Nix B, Aitken D, Crossley J, Cuckle H, Spencer K (2010a) Cross-trimester repeated measures testing for Down’s syndrome screening: an assessment. Health Technol Assess 14: 1–80 Wright D, Bradbury I, Malone F, D’Alton M, Summers A, Huang T, Ball S, Baker A, Nix B, Aitken D, Crossley J, Cuckle H, Spencer K (2010a) Cross-trimester repeated measures testing for Down’s syndrome screening: an assessment. Health Technol Assess 14: 1–80
Zurück zum Zitat Wright D, Spencer K, Kagan KK, Tørring N, Petersen OB, Christou A, Kallikas J, Nicolaides KH (2010b) First-trimester combined screening for trisomy 21 at 7–14 weeks’ gestation. Ultrasound Obstet Gynecol 36: 404–411 Wright D, Spencer K, Kagan KK, Tørring N, Petersen OB, Christou A, Kallikas J, Nicolaides KH (2010b) First-trimester combined screening for trisomy 21 at 7–14 weeks’ gestation. Ultrasound Obstet Gynecol 36: 404–411
Zurück zum Zitat Wright D, Syngelaki A, Birdir C, Bedei I, Nicolaides KH (2011a) First-trimester screening for trisomy 21 with adjustment for biochemical results of previous pregnancies. Fetal Diagn Ther 30: 194–202 Wright D, Syngelaki A, Birdir C, Bedei I, Nicolaides KH (2011a) First-trimester screening for trisomy 21 with adjustment for biochemical results of previous pregnancies. Fetal Diagn Ther 30: 194–202
Zurück zum Zitat Wright D, Syngelaki A, Staboulidou I, Cruz Jde J, Nicolaides KH (2011b) Screening for trisomies in dichorionic twins by measurement of fetal nuchal translucency thickness according to the mixture model. Prenat Diagn 31: 16–21 Wright D, Syngelaki A, Staboulidou I, Cruz Jde J, Nicolaides KH (2011b) Screening for trisomies in dichorionic twins by measurement of fetal nuchal translucency thickness according to the mixture model. Prenat Diagn 31: 16–21
Zurück zum Zitat Wright D, Akolekar R, Syngelaki A, Poon LCY, Nicolaides KH (2012) A competing risks model in early screening for preeclampsia. Fetal Diagn Ther 32: 171–178 Wright D, Akolekar R, Syngelaki A, Poon LCY, Nicolaides KH (2012) A competing risks model in early screening for preeclampsia. Fetal Diagn Ther 32: 171–178
Zurück zum Zitat Wright D, Syngelaki A, Bradbury I, Akolekar R, Nicolaides KH (2014) First-trimester screening for trisomies 21, 18 and 13 by ultrasound and biochemical testing. Fetal Diagn Ther 35: 118–126 Wright D, Syngelaki A, Bradbury I, Akolekar R, Nicolaides KH (2014) First-trimester screening for trisomies 21, 18 and 13 by ultrasound and biochemical testing. Fetal Diagn Ther 35: 118–126
Zurück zum Zitat Wright D, Gallo DM, Pugliese SG, Casanova C, Nicolaides KH (2016) Contingent screening for preterm preeclampsia. Ultrasound Obstet Gynecol 47: 554–559 Wright D, Gallo DM, Pugliese SG, Casanova C, Nicolaides KH (2016) Contingent screening for preterm preeclampsia. Ultrasound Obstet Gynecol 47: 554–559
Metadaten
Titel
Ersttrimesterscreening
verfasst von
Prof. Dr. med. MHBA K.-O. Kagan
PD Dr. med. H. Abele
Prof. Dr. med. M. Hoopmann
Copyright-Jahr
2018
Verlag
Springer Berlin Heidelberg
DOI
https://doi.org/10.1007/978-3-662-53662-9_5