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Ersttrimester-Klinik zum Zeitpunkt 11–13+6 Schwangerschaftswochen: Screening, Risikoberechnung und Management

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Die Geburtshilfe

Part of the book series: Springer Reference Medizin ((SRM))

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Zusammenfassung

Bei 11–13+6 Schwangerschaftswochen können zahlreiche Schwangerschaftskomplikationen erkannt werden.

Fester Bestandteil der Untersuchung ist die Suche nach Fehlbildungen und Chromosomenstörungen sowie nach Präeklampsie und der fetalen Wachstumsrestriktion.

Aktuelle Forschungsansätze verfolgen die Möglichkeit, eine abnormal invasive Plazenta bzw. das Plazenta-accreta-Spektrum sowie Vasa praevia und Insertio velamentosa erkennen zu können.

Zukünftig werden potenziell auch die Suche nach einer Glukosestoffwechselstörung und die Prädiktion einer Frühgeburt möglich sein.

Für einen Teil der Probleme existieren im ersten Trimenon Lösungsansätze. Dies schließt eine eingehende Beratung über die entsprechende Komplikation sowie die Möglichkeit der Prävention und/oder Intervention ein. Das spätere Auftreten von Komplikationen kann so zeitlich verzögert und in der Häufigkeit stark verringert werden. Dadurch wird das Ersttrimester-Screening für die Planung der Schwangerschaftsbetreuung, Prävention und Intervalle der Follow-up-Untersuchungen unverzichtbar (individualisierte Schwangerenvorsorge).

Ist keine Therapie verfügbar bzw. wird ein Schwangerschaftsabbruch erwogen, kann dieser mit viel niedrigeren Komplikationsraten als im zweiten Trimenon durchgeführt werden.

In den meisten Fällen sind weiterführende Untersuchungen nicht erforderlich, sodass das Ersttrimester-Screening zur Beruhigung der Eltern beiträgt.

Eine erneute Untersuchung um 20 Schwangerschaftswochen zur Vervollständigung der Fehlbildungsdiagnostik wird empfohlen.

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Literatur

  • 10 goldene Regeln (o.J.). https://www.degum.de/fileadmin/dokumente/sektionen/Gynaekologie_und_Geburtshilfe/Informationen_zum_Fach/NIPT-10-goldene-Regeln_AK_v2020-02-17.pdf. Zugegriffen am 16.03.2024

  • Abele H, Wagner P, Sonek J, Hoopmann M, Brucker S, Artunc-Ulkumen B et al (2015) First trimester ultrasound screening for Down syndrome based on maternal age, fetal nuchal translucency and different combinations of the additional markers nasal bone, tricuspid and ductus venosus flow. Prenat Diagn 35(12):1182–1186

    Article  PubMed  Google Scholar 

  • Akolekar R, Syngelaki A, Poon L, Wright D, Nicolaides KH (2013) Competing risks model in early screening for preeclampsia by biophysical and biochemical markers. Fetal Diagn Ther 33(1):8–15

    Article  PubMed  Google Scholar 

  • Altmann R, Schertler C, Scharnreitner I, Arzt W, Dertinger S, Scheier M (2020) Diagnosis of fetal posterior fossa malformations in high-risk pregnancies at 12–14 gestational weeks by transvaginal ultrasound examination. Fetal Diagn Ther 47(3):182–187

    Article  PubMed  Google Scholar 

  • Anderson UD, Olsson MG, Kristensen KH, Åkerström B, Hansson SR (2012 Feb) Review: biochemical markers to predict preeclampsia. Placenta 33:S42–S47

    Article  PubMed  Google Scholar 

  • Badeau M, Lindsay C, Blais J, Nshimyumukiza L, Takwoingi Y, Langlois S et al (2017) Genomics-based non-invasive prenatal testing for detection of fetal chromosomal aneuploidy in pregnant women. Cochrane Db Syst Rev 11:CD011767

    Google Scholar 

  • Baer RJ, Norton ME, Shaw GM, Flessel MC, Goldman S, Currier RJ et al (2014) Risk of selected structural abnormalities in infants after increased nuchal translucency measurement. Am J Obstet Gynecol 211(6):675.e1–675.19

    Article  PubMed  Google Scholar 

  • Bardi F, Smith E, Kuilman M, Snijders RJM, Bilardo CM (2019) Early detection of structural anomalies in a primary care setting in the Netherlands. Fetal Diagn Ther 46(1):12–19

    Article  PubMed  Google Scholar 

  • Bardi F, Bosschieter P, Verheij J, Go A, Haak M, Bekker M et al (2020) Is there still a role for nuchal translucency measurement in the changing paradigm of first trimester screening? Prenatal Diag 40(2):197–205

    Article  CAS  PubMed  Google Scholar 

  • Benn P, Malvestiti F, Grimi B, Maggi F, Simoni G, Grati FR (2019 Oct) Rare autosomal trisomies: comparison of detection through cell-free DNA analysis and direct chromosome preparation of chorionic villus samples. Ultrasound Obstet Gynecol 54(4):458–467

    Article  CAS  PubMed  Google Scholar 

  • Berglund A, Stochholm K, Gravholt CH (2020) The epidemiology of sex chromosome abnormalities. Am J Med Genetics Part C Seminar Med Genet 184(2):202–215

    Article  Google Scholar 

  • Bevilacqua E, Jani JC, Chaoui R, Suk E-KA, Palma-Dias R, Ko T-M et al (2021) Performance of a targeted cell-free DNA prenatal test for 22q11.2 deletion in a large clinical cohort. Ultrasound Obstet Gynecol 58(4):597–602

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Boutin A, Demers S, Gasse C, Giguère Y, Tétu A, Laforest G et al (2018) First trimester screening for fetal aneuploidies using placental growth factor: the great obstetrical syndrome (GOS) study. J Obstet Gynaecol Can 40(8):1044–1049

    Article  PubMed  Google Scholar 

  • Bujold E, Roberge S, Lacasse Y, Bureau M, Audibert F, Marcoux S et al (2010) Prevention of preeclampsia and intrauterine growth restriction with aspirin started in early pregnancy: a meta-analysis. Obstet Gynecol 116(2 Pt 1):402–414

    Article  PubMed  Google Scholar 

  • Chaemsaithong P, Gil MM, Chaiyasit N, Cuenca-Gomez D, Plasencia W, Rolle V et al (2022) Accuracy of placental growth factor alone or in combination with soluble fms-like tyrosine kinase-1 or maternal factors in detecting preeclampsia in asymptomatic women in the second and third trimesters: a systematic review and meta-analysis. Am J Obstet Gynecol. https://doi.org/10.1016/j.ajog.2023.03.032

  • Chaoui R, Benoit B, Mitkowska-Wozniak H, Heling K-S, Nicolaides KH (2009) Assessment of intracranial translucency (IT) in the detection of spina bifida at the 11–13-week scan. Ultrasound Obstet Gynecol 34(3):249–252

    Article  CAS  PubMed  Google Scholar 

  • Chaoui R, Orosz G, Heling K-S, Lopez AS, Nicolaides KH (2015) Maxillary gap at 11–13 weeks’ gestation: marker of cleft lip and palate. Ultrasound Obstet Gynecol 46(6):665–669

    Article  CAS  PubMed  Google Scholar 

  • Chaoui R, Benoit B, Entezami M, Frenzel W, Heling K-S, Ladendorf B et al (2019) Ratio of choroid plexus to fetal head size: simple sonographic marker of open spina bifida at 11–13 weeks’ gestation. Ultrasound Obstet Gynecol 55(1):81–86. https://doi.org/10.1002/uog.20856

  • Chelemen T, Syngelaki A, Maiz N, Allan L, Nicolaides KH (2011) Contribution of ductus venosus Doppler in first-trimester screening for major cardiac defects. Fetal Diagn Ther 29(2):127–134

    Article  PubMed  Google Scholar 

  • Chen FCK, Gerhardt J, Entezami M, Chaoui R, Henrich W (2015) Detection of spina bifida by first trimester screening – results of the prospective multicenter Berlin IT-study. Ultraschall in der Medizin – Eur J Ultrasound. https://doi.org/10.1055/s-0034-1399483

  • Cnossen JS, Morris RK, Riet G ter, Mol BWJ, van der Post JAM, Coomarasamy A, et al. Use of uterine artery Doppler ultrasonography to predict pre-eclampsia and intrauterine growth restriction: a systematic review and bivariable meta-analysis. CMAJ 2008 178(6):701–711

    Article  PubMed  PubMed Central  Google Scholar 

  • Conde-Agudelo A, Bird S, Kennedy S, Villar J, Papageorghiou A (2015) First- and second-trimester tests to predict stillbirth in unselected pregnant women: a systematic review and meta-analysis. BJOG Int J Obstet Gynaecol 122(1):41–55

    Article  CAS  Google Scholar 

  • Cuckle H, Maymon R (2016 Jan) Development of prenatal screening – A historical overview. Semin Perinatol 40(1):12–22

    Article  PubMed  Google Scholar 

  • Cuckle HS, Wald NJ, Thompson SG (1987) Estimating a woman’s risk of having a pregnancy associated with Down’s syndrome using her age and serum alpha-fetoprotein level. Br J Obstet Gynaecol 94(5):387–402

    Article  CAS  PubMed  Google Scholar 

  • D’Antonio F, Timor-Tritsch IE, Palacios-Jaraquemada J, Monteagudo A, Buca D, Forlani F et al (2018) First-trimester detection of abnormally invasive placenta in high-risk women: systematic review and meta-analysis. Ultrasound Obstet Gynecol 51(2):176–183

    Article  PubMed  Google Scholar 

  • Demko Z, Prigmore B, Benn P (2022) A critical evaluation of validation and clinical experience studies in non-invasive prenatal testing for trisomies 21, 18, and 13 and monosomy X. J Clin Med 11(16):4760

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Derisbourg S, Boulay A, Lamy C, Barlow P, Rysselberge MV, Thomas D et al (2021) First trimester ultrasound prediction of velamentous cord insertions: a prospective study. J Maternal-fetal Neonat Med 34(16):2642–2648

    Article  Google Scholar 

  • Eiben B, Glaubitz R, Merz E (2012) Trisomie-21-Analyse aus mütterlichem Blut. frauenarzt.de 53(9):834–835

    Google Scholar 

  • Eiben B, Thode C, Merz E (2013) Serumtestsysteme zur Erfassung von Chromosomenanomalien. Gynäkologie Geburtshilfe 18(2):33–37

    Article  Google Scholar 

  • Eiben B, Glaubitz R, Kagan KO (2014) Non-invasive prenatal diagnostics. medizinische genetik 26(4):382–390

    Article  Google Scholar 

  • Eiben PDB, Thode C, Merz E (2011) Das Ersttrimester-Screening und die neue Risikoberechnungssoftware der Fetal Medicine Foundation Deutschland. Med Genet 23(4):453–456

    Google Scholar 

  • Fantasia I, Kasapoglu D, Kasapoglu T, Syngelaki A, Akolekar R, Nicolaides KH (2018) Fetal major cardiac defects and placental dysfunction at 11–13 weeks’ gestation. Ultrasound Obstet Gynecol 51(2):194–198

    Article  CAS  PubMed  Google Scholar 

  • Farraposo S, Montenegro N, Matias A (2014) Evaluation of the role of first-trimester obstetric ultrasound in the detection of major anomalies: a systematic review. J Perinat Med 42(2):141–149

    Article  PubMed  Google Scholar 

  • Galeva S, Gil MM, Konstantinidou L, Akolekar R, Nicolaides KH (2019) First-trimester screening for trisomies by cfDNA testing of maternal blood in singleton and twin pregnancies: factors affecting test failure. Ultrasound Obstet Gynecol 53(6):804–809

    Article  CAS  PubMed  Google Scholar 

  • Gasiorek-Wiens A, Tercanli S, Kozlowski P, Kossakiewicz A, Minderer S, Meyberg H et al (2001) Screening for trisomy 21 by fetal nuchal translucency and maternal age: a multicenter project in Germany, Austria and Switzerland. Ultrasound Obstet Gynecol 18(6):645–648

    Article  CAS  PubMed  Google Scholar 

  • Geppert J, Stinton C, Johnson S, Clarke A, Grammatopoulos D, Taylor-Phillips S (2021) Antenatal screening for fetal trisomies using microarray-based cell-free DNA testing: a systematic review and meta-analysis [Internet]. 2020 [cited 2021 Dec 28]. https://obgyn.onlinelibrary.wiley.com/doi/pdfdirect/10.1002 %2Fpd.5621. Zugegriffen am 16.03.2024

  • Gil MM, Revello R, Poon LC, Akolekar R, Nicolaides KH (2016 Jan) Clinical implementation of routine screening for fetal trisomies in the UK NHS: cell-free DNA test contingent on results from first-trimester combined test. Ultrasound Obstet Gynecol 47(1):45–52

    Article  CAS  PubMed  Google Scholar 

  • Gil MM, Accurti V, Santacruz B, Plana MN, Nicolaides KH (2017) Analysis of cell-free DNA in maternal blood in screening for aneuploidies: updated meta-analysis. Ultrasound Obstet Gynecol 50(3):302–314

    Article  CAS  PubMed  Google Scholar 

  • Grande M, Arigita M, Borobio V, Jimenez JM, Fernandez S, Borrell A (2012) First-trimester detection of structural abnormalities and the role of aneuploidy markers. Ultrasound Obstetrics Gynecol 39(2):157–163

    Article  CAS  Google Scholar 

  • Grati FR, Gross SJ (2019 Jan) Noninvasive screening by cell-free DNA for 22q11.2 deletion: benefits, limitations, and challenges. Prenatal Diag 39(2):70–80

    Article  PubMed  Google Scholar 

  • Grati FR, Gomes DM, Ferreira JCPB, Dupont C, Alesi V, Gouas L et al (2015 Aug) Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies. Prenat Diagn 35(8):801–809

    Article  PubMed  Google Scholar 

  • Greco E, Gupta R, Syngelaki A, Poon LCY, Nicolaides KH (2012) First-trimester screening for spontaneous preterm delivery with maternal characteristics and cervical length. Fetal Diagn Ther 31(3):154–161

    Article  PubMed  Google Scholar 

  • group E working (o.J.) EUROCAT Prevalence Data Tables [Internet]. http://www.eurocat-network.eu/newprevdata/showPDF.aspx?winx=1416&winy=741&file=allsubgroups.aspx. https://eu-rd-platform.jrc.ec.europa.eu/eurocat/eurocat-data/prevalence_en. Zugegriffen am 16.03.2024

  • Hasegawa J, Matsuoka R, Ichizuka K, Sekizawa A, Okai T (2006) Velamentous cord insertion: significance of prenatal detection to predict perinatal complications. Taiwan J Obstetrics Gynecol 45(1):21–25

    Article  Google Scholar 

  • Hasegawa J, Nakamura M, Sekizawa A, Matsuoka R, Ichizuka K, Okai T (2011) Prediction of risk for vasa previa at 9–13 weeks’ gestation. J Obstet Gynaecol Res 37(10):1346–1351

    Article  PubMed  Google Scholar 

  • Hoopmann M, Kagan KO (2017) The Fetal Profile - More Than Just NT. Ultraschall in der Medizin – Eur J Ultrasound 38(6):611–618

    Google Scholar 

  • Hou G, Gao Y, Poon LC, Ren Y, Zeng C, Wen B et al (2023) Maternal plasma diacylglycerols and triacylglycerols in the prediction of gestational diabetes mellitus. BJOG Int J Obstet Gynaecol 130(3):247–256

    Article  CAS  Google Scholar 

  • Hui L, Pynaker C, Bonacquisto L, Lindquist A, Poulton A, Kluckow E et al (2021) Reexamining the optimal nuchal translucency cutoff for diagnostic testing in the cell-free DNA and microarray era: results from the Victorian Perinatal Record Linkage study. Am J Obstet Gynecol 225(5):527.e1–527.e12

    Article  CAS  PubMed  Google Scholar 

  • IQWiG I für Q und W im G (2017) Nicht invasive Pränataldiagnostik (NIPD) zur Bestimmung des Risikos autosomaler Trisomien 13, 18 und 21 bei Risikoschwangerschaften. 2017 Dec; 1–118

    Google Scholar 

  • ISUOG Practice Guidelines (2023) (updated): performance of 11–14-week ultrasound scan. Ultrasound Obstet Gynecol 61(1):127–143.

    Google Scholar 

  • Jani JC, Gil MM, Benachi A, Prefumo F, Kagan KO, Tabor A et al (2020) Genome-wide cfDNA testing of maternal blood. Ultrasound Obstet Gynecol 55(1):13–14

    Article  CAS  PubMed  Google Scholar 

  • Kagan KO, Wright D, Spencer K, Molina FS, Nicolaides KH (2008a) 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 Obstetrics Gynecol 31(5):493–502

    Article  CAS  Google Scholar 

  • Kagan KO, Wright D, Valencia C, Maiz N, Nicolaides KH (2008b) Screening for trisomies 21, 18 and 13 by maternal age, fetal nuchal translucency, fetal heart rate, free -hCG and pregnancy-associated plasma protein-A. Hum Reprod 23(9):1968–1975

    Article  CAS  PubMed  Google Scholar 

  • Kagan KO, Cicero S, Staboulidou I, Wright D, Nicolaides KH (2009a) Fetal nasal bone in screening for trisomies 21, 18 and 13 and Turner syndrome at 11-13 weeks of gestation. Ultrasound Obstet Gynecol 33(3):259–264

    Article  CAS  PubMed  Google Scholar 

  • Kagan KO, Valencia C, Livanos P, Wright D, Nicolaides KH (2009b) Tricuspid regurgitation in screening for trisomies 21, 18 and 13 and Turner syndrome at 11 + 0 to 13 + 6 weeks of gestation. Ultrasound Obstetrics Gynecol 33(1):18–22

    Article  CAS  Google Scholar 

  • Kagan KO, Wright D, Etchegaray A, Zhou Y, Nicolaides KH (2009c) Effect of deviation of nuchal translucency measurements on the performance of screening for trisomy 21. Ultrasound Obstetrics Gynecol 33(6):657–664

    Article  CAS  Google Scholar 

  • Kagan KO, Etchegaray A, Zhou Y, Wright D, Nicolaides KH (2009d) Prospective validation of first-trimester combined screening for trisomy 21. Ultrasound Obstetrics Gynecol 34(1):14–18

    Article  CAS  Google Scholar 

  • Kagan KO, Hoopmann M, Abele H, Alkier R, Lüthgens K (2012) 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 40(5):530–535

    Article  CAS  PubMed  Google Scholar 

  • Kagan KO, Wright D, Nicolaides KH (2015) First-trimester contingent screening for trisomies 21, 18 and 13 by fetal nuchal translucency and ductus venosus flow and maternal blood cell-free DNA testing. Ultrasound Obstet Gynecol 45(1):42–47

    Article  CAS  PubMed  Google Scholar 

  • Kagan KO, Hoopmann M, Singer S, Schaeferhoff K, Dufke A, Mau-Holzmann UA (2016) Discordance between ultrasound and cell free DNA screening for monosomy X. Arch Gynecol Obstet 294(2):219–224

    Article  PubMed  Google Scholar 

  • Kagan KO, Sonek J, Wagner P, Hoopmann M (2017a) Principles of first trimester screening in the age of non-invasive prenatal diagnosis: screening for chromosomal abnormalities. Arch Gynecol Obstet 296(4):645–651

    Article  CAS  PubMed  Google Scholar 

  • Kagan KO, Sonek J, Wagner P, Hoopmann M (2017b) Principles of first trimester screening in the age of non-invasive prenatal diagnosis: screening for other major defects and pregnancy complications. Arch Gynecol Obstet 31(675):3–9

    Google Scholar 

  • Kagan KO, Sroka F, Sonek J, Abele H, Lüthgens K, Schmid M et al (2018) First-trimester risk assessment based on ultrasound and cell-free DNA vs combined screening: a randomized controlled trial. Ultrasound Obstet Gynecol 51(4):437–444

    Article  CAS  PubMed  Google Scholar 

  • Kagan KO, Hoopmann M, Pfaff T, Prodan N, Wagner P, Schmid M et al (2020) First trimester screening for common trisomies and microdeletion 22q11.2 syndrome using cell-free DNA: a prospective clinical study. Fetal Diagn Ther 47(11):841–852. https://doi.org/10.1159/000510069

  • Kaisenberg CS von, Gasiorek-Wiens A, Bielicki M, Bahlmann F, Meyberg H, Kossakiewicz A et al (2002a) Screening for trisomy 21 by maternal age, fetal nuchal translucency and maternal serum biochemistry at 11–14 weeks: a German multicenter study. J Maternal-fetal Neonatal Medicine 12(2):89–94

    Google Scholar 

  • Kaisenberg CS von, Fritzer E, Kühling H, Jonat W (2002b) Fetal transabdominal biometry at 11–14 weeks of gestation. Ultrasound Obstet Gynecol 20(6):564–574

    Google Scholar 

  • Kaisenberg CS von, Kaisenberg HK, Fritzer E, Schemm S, Meinhold-Heerlein I, Jonat W (2005) Fetal transabdominal anatomy scanning using standard views at 11 to 14 weeks’ gestation. Am J Obstet Gynecol 192(2):535–542

    Google Scholar 

  • Kaisenberg CS von, Chaoui R, Häusler M, Kagan K, Kozlowski P, Merz E et al (2016) Quality requirements for the early fetal ultrasound assessment at 11–13+6 weeks of gestation (DEGUM Levels II and III). Ultraschall Med 37(03):297–302

    Google Scholar 

  • Karim JN, Roberts NW, Salomon LJ, Papageorghiou AT (2017) Systematic review of first-trimester ultrasound screening for detection of fetal structural anomalies and factors that affect screening performance. Ultrasound Obstet Gynecol 50(4):429–441

    Article  CAS  PubMed  Google Scholar 

  • Karl K, Benoit B, Entezami M, Heling K-S, Chaoui R (2012) Small biparietal diameter in fetuses with spina bifida on 11-13-week and mid-gestation ultrasound. Ultrasound Obstet Gynecol 40(2):140–144

    Article  CAS  PubMed  Google Scholar 

  • Kozlowski P, Burkhardt T, Gembruch U, Gonser M, Kähler C, Kagan KO et al (2018) DEGUM, ÖGUM, SGUM and FMF Germany recommendations for the implementation of first-trimester screening, detailed ultrasound, cell-free DNA screening and diagnostic procedures. Ultraschall in der Medizin – Eur J Ultrasound. https://doi.org/10.1055/a-0631-8898

  • Kozlowski P, Burkhardt T, Gembruch U, Gonser M, Kähler C, Kagan KO et al (2019a) DEGUM, ÖGUM, SGUM and FMF Germany recommendations for the implementation of first-trimester screening, detailed ultrasound, cell-free DNA screening and diagnostic procedures. Ultraschall in der Medizin (Stuttgart, Germany: 1980) 40(2):176–193

    Article  PubMed  Google Scholar 

  • Kozlowski P, Burkhardt T, Gembruch U, Gonser M, Kähler C, Kagan K-O et al (2019b) DEGUM, ÖGUM, SGUM and FMF Germany recommendations for the implementation of first-trimester screening, detailed ultrasound, cell-free DNA screening and diagnostic procedures. Ultraschall Der Medizin - European J Ultrasound 40(02):176–193

    Article  Google Scholar 

  • Meij KRM van der, Sistermans EA, Macville MVE, Stevens SJC, Bax CJ, Bekker MN, et al. TRIDENT-2: National implementation of genome-wide non-invasive prenatal testing as a first-tier screening test in the Netherlands. Am J Hum Genet 2019 105(6):1091–1101

    Google Scholar 

  • Kronenberg AWMF (1927) 057-023 S2e LL Diabetes in der Schwangerschaft. Deut Med Wochenschr 53(16):660–660

    Article  Google Scholar 

  • Lachmann R, Picciarelli G, Moratalla J, Greene N, Nicolaides KH (2010) Frontomaxillary facial angle in fetuses with spina bifida at 11-13 weeks’ gestation. Ultrasound Obstet Gynecol 36(3):268–271

    Article  CAS  PubMed  Google Scholar 

  • Lachmann R, Chaoui R, Moratalla J, Picciarelli G, Nicolaides KH (2011 Jan) Posterior brain in fetuses with open spina bifida at 11 to 13 weeks. Prenat Diagn 31(1):103–106

    Article  PubMed  Google Scholar 

  • Liang D, Cram DS, Tan H, Linpeng S, Liu Y, Sun H et al (2019) Clinical utility of noninvasive prenatal screening for expanded chromosome disease syndromes. Genet Med 21(9):1998–2006

    Article  CAS  PubMed  Google Scholar 

  • Liao Y, Wen H, Ouyang S, Yuan Y, Bi J, Guan Y et al (2021) Routine first-trimester ultrasound screening using a standardized anatomical protocol. Am J Obstet Gynecol 224(4):396.e1–396.e15

    Article  PubMed  Google Scholar 

  • Lindquist A, Poulton A, Halliday J, Hui L (2018) Prenatal diagnostic testing and atypical chromosome abnormalities following combined first-trimester screening: implications for contingent models of non-invasive prenatal testing. Ultrasound Obstet Gynecol 51(4):487–492

    Article  CAS  PubMed  Google Scholar 

  • Lüthgens K, Grati FR, Sinzel M, Häbig K, Kagan KO (2020) Confirmation rate of cell free DNA screening for sex chromosomal abnormalities according to the method of confirmatory testing. Prenatal Diag 41(10):1258–1263

    Article  PubMed  Google Scholar 

  • Mace P, Mancini J, Gorincour G, Quarello E (2021) Accuracy of qualitative and quantitative cranial ultrasonographic markers in first-trimester screening for open spina bifida and other posterior brain defects: a systematic review and meta-analysis. BJOG Int J Obstet Gynaecol 128(2):354–365

    Article  CAS  Google Scholar 

  • Maiz N, Kagan KO, Milovanovic Z, Celik E, Nicolaides KH (2008) Learning curve for Doppler assessment of ductus venosus flow at 11 + 0 to 13 + 6 weeks’ gestation. Ultrasound Obstet Gynecol 31(5):503–506

    Article  CAS  PubMed  Google Scholar 

  • Maiz N, Valencia C, Kagan KO, Wright D, Nicolaides KH (2009a) Ductus venosus Doppler in screening for trisomies 21, 18 and 13 and Turner syndrome at 11-13 weeks of gestation. Ultrasound Obstetrics Gynecol 33(5):512–517

    Article  CAS  Google Scholar 

  • Maiz N, Staboulidou I, Leal AM, Minekawa R, Nicolaides KH (2009b) Ductus venosus Doppler at 11 to 13 weeks of gestation in the prediction of outcome in twin pregnancies. Obstet Gynecol 113(4):860–865

    Article  PubMed  Google Scholar 

  • Malan V, Bussières L, Winer N, Jais J-P, Baptiste A, Lorc‘h ML et al (2018) Effect of cell-free DNA screening vs direct invasive diagnosis on miscarriage rates in women with pregnancies at high risk of trisomy 21: a randomized clinical trial. JAMA 320(6):557–565

    Article  PubMed  PubMed Central  Google Scholar 

  • Martin K, Iyengar S, Kalyan A, Lan C, Simon AL, Stosic M et al (2017) Clinical experience with a single-nucleotide polymorphism-based noninvasive prenatal test for five clinically significant microdeletions. Clin Genet. https://doi.org/10.1111/cge.13098

  • Maruotti GM, Saccone G, D’Antonio F, Berghella V, Sarno L, Morlando M, Giudicepietro A, Martinelli P (2016) Diagnostic accuracy of intracranial translucency in detecting spina bifida: a systematic review and meta-analysis. Prenat Diagn 36(11):991–996. https://doi.org/10.1002/pd.4883

  • Maya I, Yacobson S, Kahana S, Yeshaya J, Tenne T, Agmon-Fishman I et al (2017) Cut-off value of nuchal translucency as indication for chromosomal microarray analysis. Ultrasound Obstet Gynecol 50(3):332–335

    Article  CAS  PubMed  Google Scholar 

  • Maya I, Sheelo LS, Brabbing-Goldstein D, Matar R, Kahana S, Agmon-Fishman I et al (2022) Residual risk for clinically significant copy number variants in low-risk pregnancies, following exclusion of noninvasive prenatal screening–detectable findings. Am J Obstet Gynecol 226(4):562.e1–562.e8

    Article  PubMed  Google Scholar 

  • Mellis R, Eberhardt R, Hamilton S, Consortium TP, McMullan D, Kilby M et al (2021) Fetal exome sequencing for isolated increased nuchal translucency: should we be doing it? BJOG Int J Obstetrics Gynaecol. https://doi.org/10.1111/1471-0528.16869

  • Miltoft CB, Rode L, Ekelund CK, Sundberg K, Kjaergaard S, Zingenberg H et al (2018) Contingent first-trimester screening for aneuploidies with cell-free DNA in a Danish clinical setting. Ultrasound Obstet Gynecol 51(4):470–479

    Article  CAS  PubMed  Google Scholar 

  • Minnella GP, Crupano FM, Syngelaki A, Zidere V, Akolekar R, Nicolaides KH (2020) Diagnosis of major heart defects by routine first-trimester ultrasound examination: association with increased nuchal translucency, tricuspid regurgitation and abnormal flow in ductus venosus. Ultrasound Obstet Gynecol 55(5):637–644

    Article  CAS  PubMed  Google Scholar 

  • Moety GAFA, Almohamady M, Sherif NA, Raslana AN, Mohamed TF, Moneam HMAE et al (2016) Could first-trimester assessment of placental functions predict preeclampsia and intrauterine growth restriction? A prospective cohort study. J Maternal-fetal Neonatal Medicine 29(3):413–417

    Article  Google Scholar 

  • Nahavandi S, Seah J, Shub A, Houlihan C, Ekinci EI (2018) Biomarkers for macrosomia prediction in pregnancies affected by diabetes. Front Endocrinol 9:407

    Article  Google Scholar 

  • Noël L, Guy GP, Jones S, Forenc K, Buck E, Papageorghiou AT et al (2021) Routine first-trimester combined screening for pre-eclampsia: pregnancy-associated plasma protein-A or placental growth factor? Ultrasound Obstet Gynecol 58(4):540–545

    Article  PubMed  Google Scholar 

  • Orlandi E, Rossi C, Perino A, Cucinella G, Orlandi F (2015) Prospective sonographic detection of spina bifida at 11–14 weeks and systematic literature review. J Maternal-fetal Neonatal Medicine 29(14):1–5

    Google Scholar 

  • Panaiotova J, Tokunaka M, Krajewska K, Zosmer N, Nicolaides KH (2019) Screening for morbidly adherent placenta in early pregnancy. Ultrasound Obstet Gynecol 53(1):101–106

    Article  CAS  PubMed  Google Scholar 

  • Petersen OB, Vogel I, Ekelund C, Hyett J, Tabor A, Group the DFMS et al (2014) Potential diagnostic consequences of applying non-invasive prenatal testing: population-based study from a country with existing first-trimester screening. Ultrasound Obstet Gynecol 43(3):265–271

    Article  CAS  PubMed  Google Scholar 

  • Plasencia W, Maiz N, Bonino S, Kaihura C, Nicolaides KH (2007 Oct) Uterine artery Doppler at 11 + 0 to 13 + 6 weeks in the prediction of pre-eclampsia. Ultrasound Obstet Gynecol 30(5):742–749

    Article  CAS  PubMed  Google Scholar 

  • Poon LCY, Karagiannis G, Stratieva V, Syngelaki A, Nicolaides KH (2011) First-trimester prediction of macrosomia. Fetal Diagn Ther 29(2):139–147

    Article  PubMed  Google Scholar 

  • Prodan NC, Wiechers C, Geipel A, Walter A, Siegmann HJ, Kozlowski P et al (2022) Universal cell free DNA or contingent screening for trisomy 21: does it make a difference? A comparative study with real data. Fetal Diagn Ther 49(3):85–94

    Article  PubMed  Google Scholar 

  • Roberge S, Nicolaides K, Demers S, Hyett J, Chaillet N, Bujold E (2017) The role of aspirin dose on the prevention of preeclampsia and fetal growth restriction: systematic review and meta-analysis. Am J Obstet Gynecol 216(2):110–120.e6

    Article  CAS  PubMed  Google Scholar 

  • Rolnik DL, Wright D, Poon LC, O’Gorman N, Syngelaki A, de Matallana CP et al (2017a) Aspirin versus placebo in pregnancies at high risk for preterm preeclampsia. N Engl J Med 377(7):613–622

    Article  CAS  PubMed  Google Scholar 

  • Rolnik DL, Wright D, Poon LCY, Syngelaki A, O’Gorman N, de Paco MC et al (2017b) ASPRE trial: performance of screening for preterm pre-eclampsia. Ultrasound Obstet Gynecol 50(4):492–495

    Article  CAS  PubMed  Google Scholar 

  • Rose NC, Barrie ES, Malinowski J, Jenkins GP, McClain MR, LaGrave D et al (2022) Systematic evidence-based review: the application of noninvasive prenatal screening using cell-free DNA in general-risk pregnancies. Genet Med 24(7):1379–1391

    Google Scholar 

  • Salomon LJ, Alfirevic Z, Bilardo CM, Chalouhi GE, Ghi T, Kagan KO et al (2013) ISUOG Practice Guidelines: performance of first-trimester fetal ultrasound scan. Ultrasound Obstet Gynecol 41(1):102–113

    Article  CAS  PubMed  Google Scholar 

  • Sánchez-Durán MÁ, García AB, Calero I, Fossas JR, Illescas T, Avilés MT et al (2019) Clinical application of a contingent screening strategy for trisomies with cell-free DNA: a pilot study. BMC Pregnancy Childb 19(1):274

    Article  Google Scholar 

  • Santorum M, Wright D, Syngelaki A, Karagioti N, Nicolaides KH (2017) Accuracy of first-trimester combined test in screening for trisomies 21, 18 and 13. Ultrasound Obstetrics Amp Gynecol 49(6):714–720

    Article  CAS  Google Scholar 

  • Schindewolf E, Khalek N, Johnson MP, Gebb J, Coleman B, Crowley TB et al (2018) Expanding the fetal phenotype: prenatal sonographic findings and perinatal outcomes in a cohort of patients with a confirmed 22q11.2 deletion syndrome. Am J Med Genet A 176(8):1735–1741

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Schmid M, Wang E, Bogard PE, Bevilacqua E, Hacker C, Wang S et al (2018) Prenatal screening for 22q11.2 deletion using a targeted microarray-based cell-free DNA test. Fetal Diagn Ther 44(4):299–304

    Article  PubMed  Google Scholar 

  • Scott F, Bonifacio M, Sandow R, Ellis K, Smet M, McLennan A (2018) Rare autosomal trisomies: important and not so rare. Prenatal Diag 38(10):765–771

    Article  CAS  PubMed  Google Scholar 

  • Screening for Fetal Chromosomal Abnormalities (2020) ACOG practice bulletin summary, Number 226. Obstet Gynecol 136(4):859–867

    Article  Google Scholar 

  • Sirico A, Raffone A, Lanzone A, Saccone G, Travaglino A, Sarno L et al (2020) First trimester detection of fetal open spina bifida using BS/BSOB ratio. Arch Gynecol Obstet 301(2):333–340

    Article  CAS  PubMed  Google Scholar 

  • Snijders R, 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. Lancet 352(9125):343–346

    Article  CAS  PubMed  Google Scholar 

  • Snijders RJM, Sebire NJ, Nicolaides KH (1995) Maternal age and gestational age-specific risk for chromosomal defects. Fetal Diagn Ther 10(6):356–367

    Article  CAS  PubMed  Google Scholar 

  • Souka AP, Kaisenberg CSV, Hyett JA, Sonek JD, Nicolaides KH (2005 Apr) Increased nuchal translucency with normal karyotype. Am J Obstet Gynecol 192(4):1005–1021

    Article  PubMed  Google Scholar 

  • Syngelaki A, Chelemen T, Dagklis T, Allan L, Nicolaides KH (2011) Challenges in the diagnosis of fetal non-chromosomal abnormalities at 11–13 weeks. Prenatal Diag 31(1):90–102

    Article  PubMed  Google Scholar 

  • Syngelaki A, Hammami A, Bower S, Zidere V, Akolekar R, Nicolaides KH (2019) Diagnosis of fetal non-chromosomal abnormalities on routine ultrasound examination at 11–13 weeks’ gestation. Ultrasound Obstet Gynecol 54(4):468–476

    Article  CAS  PubMed  Google Scholar 

  • Szabó J, Gellén J (1990) Nuchal fluid accumulation in trisomy-21 detected by vaginosonography in first trimester. Lancet (Lond, Engl) 336(8723):1133

    Article  Google Scholar 

  • Tørring N, Petersen OB, Becher N, Vogel I, Uldbjerg N (2015 Jun) First trimester screening for other trisomies than trisomy 21, 18, and 13. Prenat Diagn 35(6):612–619

    Article  PubMed  Google Scholar 

  • Ushakov F, Sacco A, Andreeva E, Tudorache S, Everett T, David AL et al (2019) Crash sign: a new first-trimester sonographic marker of spina bifida. Ultrasound Obstet Gynecol. https://doi.org/10.1002/uog.20285

  • Velauthar L, Plana MN, Kalidindi M, Zamora J, Thilaganathan B, Illanes SE et al (2014) First-trimester uterine artery Doppler and adverse pregnancy outcome: a meta-analysis involving 55 974 women. Ultrasound Obstet Gynecol 43(5):500–507

    Article  CAS  PubMed  Google Scholar 

  • Vogel I, Petersen OB, Christensen R, Hyett J, Lou S, Vestergaard EM (2018 Apr) Chromosomal microarray as primary diagnostic genomic tool for pregnancies at increased risk within a population-based combined first-trimester screening program. Ultrasound Obstet Gynecol 51(4):480–486

    Article  CAS  PubMed  Google Scholar 

  • Volpe N, Şen C, Turan Ş, Sepulveda W, Khalil A, Rolnik D et al (2022) First trimester examination of fetal anatomy: clinical practice guideline by the World Association of Perinatal Medicine (WAPM) and the Perinatal Medicine Foundation (PMF). Périnat J 30(2):87–102

    Google Scholar 

  • Wagner P, Eberle K, Sonek J, Berg C, Gembruch U, Hoopmann M et al (2019) First-trimester ductus venosus velocity ratio as a marker of major cardiac defects. Ultrasound Obstet Gynecol 53(5):663–668

    Article  CAS  PubMed  Google Scholar 

  • Wah YMI, Sahota DS, Chaemsaithong P, Wong L, Kwan AHW, Ting YH et al (2022) Impact of replacing or adding pregnancy-associated plasma protein-A at 11–13 weeks on screening for preterm pre-eclampsia. Ultrasound Obstet Gynecol 60(2):200–206

    Article  CAS  PubMed  Google Scholar 

  • Whitworth M, Bricker L, Neilson JP, Dowswell T (2010) Ultrasound for fetal assessment in early pregnancy. Cochrane Db Syst Rev 4:CD007058

    Google Scholar 

  • Whitworth M, Bricker L, Mullan C (2015) Ultrasound for fetal assessment in early pregnancy. Cochrane Db Syst Rev 7(7):CD007058

    Google Scholar 

  • Wijngaard R, Casals E, Mercadé I, Laguna J, Madrigal I, Badenas C et al (2021) Significance of low maternal serum β-hcg levels in the assessment of the risk of atypical chromosomal abnormalities. Fetal Diagn Ther. https://doi.org/10.1159/000521345

  • Wright D, Kagan KO, Molina FS, Gazzoni A, Nicolaides KH (2008a) A mixture model of nuchal translucency thickness in screening for chromosomal defects. Ultrasound Obstetrics Gynecol 31(4):376–383

    Article  CAS  Google Scholar 

  • Wright D, Kagan KO, Molina FS, Gazzoni A, Nicolaides KH (2008b) A mixture model of nuchal translucency thickness in screening for chromosomal defects. Ultrasound Obstet Gynecol 31(4):376–383

    Article  CAS  PubMed  Google Scholar 

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Authors and Affiliations

  1. Universitätsklinikum Tübingen, Tübingen, Deutschland

    Karl Oliver Kagan

  2. Universitätsfrauenklinik, Pränatale Medizin, Universitätsklinikum Tübingen, Tübingen, Deutschland

    Markus Hoopmann

  3. Gynäkologie u. Geburtshilfe, Universitätsspital Zürich, Zürich, Schweiz

    Tilo Burkhardt

  4. Klinik für Frauenheilkunde, Geburtshilfe und Reproduktionsmedizin, Medizinische Hochschule Hannover, Hannover, Deutschland

    Constantin von Kaisenberg

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  1. Karl Oliver Kagan
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  2. Markus Hoopmann
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  3. Tilo Burkhardt
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  4. Constantin von Kaisenberg
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Correspondence to Karl Oliver Kagan .

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Editors and Affiliations

  1. Frauenklinik, Medizinische Hochschule Hannover, Hannover, Niedersachsen, Deutschland

    Constantin von Kaisenberg

  2. Klinische Abteilung für Geburtshilfe, Medizinische Universität Graz, Graz, Steiermark, Österreich

    Philipp Klaritsch

  3. Geburtshilfe, Universitätsspital Basel, Basel Universitätsspital, Basel Stadt, Schweiz

    Irene Hösli-Krais

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Kagan, K.O., Hoopmann, M., Burkhardt, T., von Kaisenberg, C. (2024). Ersttrimester-Klinik zum Zeitpunkt 11–13+6 Schwangerschaftswochen: Screening, Risikoberechnung und Management. In: von Kaisenberg, C., Klaritsch, P., Hösli-Krais, I. (eds) Die Geburtshilfe. Springer Reference Medizin. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-44369-9_60-1

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