Subscribe to RSS
DOI: 10.1055/a-0661-8193
Screening im ersten Trimenon
Publication History
Publication Date:
08 February 2019 (online)
![](https://www.thieme-connect.de/media/frauenheilkunde-u2d/201901/lookinside/thumbnails/10-1055-a-0661-8193_fr6618193_stumpfe-1.jpg)
In Zeiten von wachsendem Sicherheitsbedürfnis werdender Eltern und fortschreitender technologischer Entwicklung erlangt das kombinierte Ersttrimesterscreening (ETS) eine immer größere Bedeutung. Durch differenzierte Ultraschalluntersuchungen, biochemische Serumparameter und die Möglichkeit der cfDNA-Analyse kann das Risiko für Chromosomenstörungen, Fehlbildungen und Schwangerschaftskomplikationen bestimmt werden. Dies ermöglicht eine individuell adaptierte Schwangerenvorsorge.
-
Der Ultraschall im 1. Trimenon bietet neben dem Screening auf Chromosomenstörungen die Möglichkeit, viele strukturelle Fehlbildungen des Fetus frühzeitig zu erkennen.
-
Zahlreiche Softmarker können die Detektionsraten des kombinierten Ersttrimesterscreenings erhöhen.
-
Über eine sinnvolle Integration der Bestimmung der zellfreien DNA in das aktuelle Konzept des Ersttrimesterscreenings wird noch diskutiert.
-
Mittels publizierter Algorithmen ist es möglich, im 1. Trimenon spätere Schwangerschaftskomplikationen vorherzusagen und die Schwangerenvorsorge zu individualisieren.
-
Das Präeklampsiescreening nach dem FMF-Algorithmus kann Patientinnen mit einem hohen Risiko für die Entwicklung einer Präeklampsie identifizieren.
-
Patientinnen mit einem hohen Präeklampsierisiko sollten ab der Frühschwangerschaft eine ASS-Prophylaxe erhalten.
-
Literatur
- 1 Rossi AC, Prefumo F. Accuracy of ultrasonography at 11–14 weeks of gestation for detection of fetal structural anomalies: a systematic review. Obstet Gynecol 2013; 122: 1160-1167
- 2 Nicolaides KH. Turning the pyramid of prenatal care. Fetal Diagn Ther 2011; 29: 183-196
- 3 Institut GKRK. Richtlinie der Gendiagnostik-Kommission (GEKO) über die Anforderungen an die Qualifikation zur und Inhalte der genetischen Beratung gemäß § 23 Abs. 2 Nr. 2a und § 23 Abs. 2 Nr. 3 GenDG 2011 [cited 54]. 248–1256. Im Internet: https://www.rki.de/DE/Content/Kommissionen/GendiagnostikKommission/Richtlinien/RL-GenetischeBeratung.pdf?__blob=publicationFile Stand: 28.01.2019
- 4 Verbraucherschutz BdJuf. Gesetz über genetische Untersuchungen bei Menschen (Gendiagnostikgesetz – GenDG). Bundesgesetzblatt. 2009. Im Internet: https://www.bgbl.de/xaver/bgbl/start.xav?startbk=Bundesanzeiger_BGBl&bk=Bundesanzeiger_BGBl&start=//*%5b@attr_id=%60bgbl109s2529.pdf%60%5d%23__bgbl__//*%5b@attr_id=%60bgbl109s2529.pdf%60%5d__1548675231729 Stand: 28.01.2019
- 5 Institut GKRK. Mitteilung der GEKO zur Einordnung der nicht-invasiven Pränataldiagnostik (NIPD) und der diesbezüglichen Beratungsqualifikation 2014. Im Internet: https://www.rki.de/DE/Content/Kommissionen/GendiagnostikKommission/Mitteilungen/GEKO_Mitteilungen_08.html Stand: 28.01.2019
- 6 von Kaisenberg C, Chaoui R, Hausler M. et al. Quality Requirements for the early Fetal Ultrasound Assessment at 11–13 + 6 Weeks of Gestation (DEGUM Levels II and III). Ultraschall Med 2016; 37: 297-302
- 7 Kagan KO, Wright D, Valencia C. et al. Screening for trisomies 21, 18 and 13 by maternal age, fetal nuchal translucency, fetal heart rate, free beta-hCG and pregnancy-associated plasma protein-A. Hum Reprod 2008; 23: 1968-1975
- 8 Nicolaides KH. Fetal Medicine Foundation. The 11th-13 + 6 weeks scan 2004. Im Internet: https://fetalmedicine.com/synced/fmf/FMF-English.pdf Stand 2004
- 9 Wright D, Kagan KO, Molina FS. et al. A mixture model of nuchal translucency thickness in screening for chromosomal defects. Ultrasound Obstet Gynecol 2008; 31: 376-383
- 10 Abele H, Wagner N, Hoopmann M. et al. Effect of deviation from the mid-sagittal plane on the measurement of fetal nuchal translucency. Ultrasound Obstet Gynecol 2010; 35: 525-529
- 11 Kagan KO, Wright D, Spencer K. et al. First-trimester screening for trisomy 21 by free beta-human chorionic gonadotropin and pregnancy-associated plasma protein-A: impact of maternal and pregnancy characteristics. Ultrasound Obstet Gynecol 2008; 31: 493-502
- 12 Spencer K, Spencer CE, Power M. et al. Screening for chromosomal abnormalities in the first trimester using ultrasound and maternal serum biochemistry in a one-stop clinic: a review of three years prospective experience. BJOG 2003; 110: 281-286
- 13 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
- 14 Kagan KO, Cicero S, Staboulidou I. et al. Fetal nasal bone in screening for trisomies 21, 18 and 13 and Turner syndrome at 11–13 weeks of gestation. Ultrasound Obstet Gynecol 2009; 33: 259-264
- 15 Cicero S, Avgidou K, Rembouskos G. et al. Nasal bone in first-trimester screening for trisomy 21. Am J Obstet Gynecol 2006; 195: 109-114
- 16 Kagan KO, Valencia C, Livanos P. et al. Tricuspid regurgitation in screening for trisomies 21, 18 and 13 and Turner syndrome at 11 + 0 to 13 + 6 weeks of gestation. Ultrasound Obstet Gynecol 2009; 33: 18-22
- 17 Kiserud T, Eik-Nes SH, Blaas HG. et al. Foramen ovale: an ultrasonographic study of its relation to the inferior vena cava, ductus venosus and hepatic veins. Ultrasound Obstet Gynecol 1992; 2: 389-396
- 18 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
- 19 Maiz N, Nicolaides KH. Ductus venosus in the first trimester: contribution to screening of chromosomal, cardiac defects and monochorionic twin complications. Fetal Diagn Ther 2010; 28: 65-71
- 20 Vandecruys H, Faiola S, Auer M. et al. Screening for trisomy 21 in monochorionic twins by measurement of fetal nuchal translucency thickness. Ultrasound Obstet Gynecol 2005; 25: 551-553
- 21 Khalil A, Rodgers M, Baschat A. et al. ISUOG Practice Guidelines: role of ultrasound in twin pregnancy. Ultrasound Obstet Gynecol 2016; 47: 247-263
- 22 Prats P, Rodriguez I, Comas C. et al. Systematic review of screening for trisomy 21 in twin pregnancies in first trimester combining nuchal translucency and biochemical markers: a meta-analysis. Prenat Diagn 2014; 34: 1077-1083
- 23 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
- 24 Kozlowski P, Burkhardt T, Gembruch U. et al. Germany Recommendations for the Implementation of First-Trimester Screening, Detailed Ultrasound, Cell-Free DNA Screening and Diagnostic Procedures. Ultraschall Med 2018; DOI: 10.1055/a-0631-8898.
- 25 Lo YM, Corbetta N, Chamberlain PF. et al. Presence of fetal DNA in maternal plasma and serum. Lancet 1997; 350: 485-487
- 26 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
- 27 Wright D, Syngelaki A, Bradbury I. et al. First-trimester screening for trisomies 21, 18 and 13 by ultrasound and biochemical testing. Fetal Diagn Ther 2014; 35: 118-126
- 28 Gil MM, Accurti V, Santacruz B. et al. Analysis of cell-free DNA in maternal blood in screening for aneuploidies: updated meta-analysis. Ultrasound Obstet Gynecol 2017; 50: 302-314
- 29 Kagan KO, Eiben B, Kozlowski P. [Combined first trimester screening and cell-free fetal DNA – “next generation screening”]. Ultraschall Med 2014; 35: 229-236
- 30 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
- 31 Ashoor G, Syngelaki A, Poon LC. et al. Fetal fraction in maternal plasma cell-free DNA at 11–13 weeksʼ gestation: relation to maternal and fetal characteristics. Ultrasound Obstet Gynecol 2013; 41: 26-32
- 32 Revello R, Sarno L, Ispas A. et al. Screening for trisomies by cell-free DNA testing of maternal blood: consequences of a failed result. Ultrasound Obstet Gynecol 2016; 47: 698-704
- 33 Sarno L, Revello R, Hanson E. et al. Prospective first-trimester screening for trisomies by cell-free DNA testing of maternal blood in twin pregnancy. Ultrasound Obstet Gynecol 2016; 47: 705-711
- 34 Struble CA, Syngelaki A, Oliphant A. et al. Fetal fraction estimate in twin pregnancies using directed cell-free DNA analysis. Fetal Diagn Ther 2014; 35: 199-203
- 35 Bevilacqua E, Gil MM, Nicolaides KH. et al. Performance of screening for aneuploidies by cell-free DNA analysis of maternal blood in twin pregnancies. Ultrasound Obstet Gynecol 2015; 45: 61-66
- 36 Mennuti MT, Chandrasekaran S, Khalek N. et al. Cell-free DNA screening and sex chromosome aneuploidies. Prenatal Diagnosis 2015; 35: 980-985
- 37 Pescia G, Guex N, Iseli C. et al. Cell-free DNA testing of an extended range of chromosomal anomalies: clinical experience with 6,388 consecutive cases. Genet Med 2017; 19: 169-175
- 38 DGGG. Stellungnahme der Deutschen Gesellschaft für Gynäkologie und Geburtshilfe (DGGG) zum Projekt S16-06 Nicht-invasive Pränataldiagnostik zur Bestimmung des Risikos autosomaler Trisomien 13, 18 und 21 bei Risikoschwangerschaften 2018. Im Internet: URL: https://www.dggg.de/fileadmin/user_upload/S16-06_NIPD_zur_Bestimmung_des_Risikos_autosomaler_Trisomien.pdf Stand: 01.10.2018
- 39 Wagner P, Hoopmann M, Kagan KO. Das Ersttrimester-Screening. Gynakologe 2018; 51: 12-18
- 40 Kagan KO, Hoopmann M, Hammer R. et al. Screening for chromosomal abnormalities by first trimester combined screening and noninvasive prenatal testing. Ultraschall Med 2015; 36: 40-46
- 41 Kagan KO, Schmid M, Hoopmann M. et al. Screening Performance and Costs of Different Strategies in Prenatal Screening for Trisomy 21. Geburtshilfe Frauenheilkd 2015; 75: 244-250
- 42 Wulff CB, Gerds TA, Rode L. et al. Risk of fetal loss associated with invasive testing following combined first-trimester screening for Down syndrome: a national cohort of 147,987 singleton pregnancies. Ultrasound Obstet Gynecol 2016; 47: 38-44
- 43 Manegold-Brauer G, Holzgreve W, Geipel A. Nichtinvasive Pränataldiagnostik – für jede Schwangere die Methode der Wahl?. gynäkologische praxis 2016; 40: 577-585
- 44 Tan MY, Syngelaki A, Poon LC. et al. Screening for pre-eclampsia by maternal factors and biomarkers at 11–13 weeksʼ gestation. Ultrasound Obstet Gynecol 2018; 52: 186-195
- 45 Rolnik DL, Wright D, Poon LC. et al. Aspirin versus Placebo in Pregnancies at High Risk for Preterm Preeclampsia. N Engl J Med 2017; 377: 613-622
- 46 Poon LC, Syngelaki A, Akolekar R. et al. Combined screening for preeclampsia and small for gestational age at 11–13 weeks. Fetal Diagn Ther 2013; 33: 16-27
- 47 Greco E, Gupta R, Syngelaki A. et al. First-trimester screening for spontaneous preterm delivery with maternal characteristics and cervical length. Fetal Diagn Ther 2012; 31: 154-161
- 48 Syngelaki A, Pastides A, Kotecha R. et al. First-Trimester Screening for Gestational Diabetes Mellitus Based on Maternal Characteristics and History. Fetal Diagn Ther 2015; 38: 14-21
- 49 Nanda S, Savvidou M, Syngelaki A. et al. Prediction of gestational diabetes mellitus by maternal factors and biomarkers at 11 to 13 weeks. Prenat Diagn 2011; 31: 135-141