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Ultraschall Med 2021; 42(05): 451-459
DOI: 10.1055/a-1528-1118
Editorial

Ten reasons why we should not abandon a detailed first trimester anomaly scan

Zehn Gründe, warum wir eine detaillierte Ersttrimester-Fehlbildungsdiagnostik nicht aufgeben sollten
Karl Oliver Kagan
1   University hospital of Tuebingen, Department of Obstetrics and Gynaecology
,
Sevgi Tercanli
2   Pränatalmedizin, Schwangerschaftsdiagnostik, Gynäkologischer Ultraschall, Freie Strasse 38, Basel, Switzerland
,
Markus Hoopmann
1   University hospital of Tuebingen, Department of Obstetrics and Gynaecology
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Introduction

Within the last two decades, the first trimester screening at 11–13 weeks’ gestation has evolved from a simple measurement of the nuchal translucency (NT) thickness and the crown-rump length (CRL) towards a detailed risk stratification for several complications that may happen within the course of the pregnancy [1] [2]. As a consequence, first trimester screening is now considered crucial for the management of each pregnancy. It involves a detailed risk assessment for chromosomal abnormalities, especially for trisomy 21, for preeclampsia and fetal growth restriction as well as a detailed anomaly scan [3] [4] [5] [6] [7] [8] [9]. In a meta-analysis from Karim et al., the detection rate for fetal defects in a high risk population exceeded 60 % [5]. These positive aspects have resulted in the concept of “turning the pyramid of pregnancy care”. In short, this model relies on a detailed first trimester risk assessment and stratifies the further management of the pregnancy according to the respective risk profile [10].



Publication History

Article published online:
01 October 2021

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  • References

  • 1 Sonek JD, Kagan KO, Nicolaides KH. Inverted Pyramid of Care. Clinics in laboratory medicine 2016; 36: 305-317
    CrossrefPubMedGoogle Scholar
  • 2 Nicolaides KH. A model for a new pyramid of prenatal care based on the 11 to 13 weeks’ assessment. Prenatal diagnosis 2011; 31: 3-6
    CrossrefPubMedGoogle Scholar
  • 3 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-hCG and pregnancy-associated plasma protein-A. Human Reproduction 2008; 23: 1968-1975
    CrossrefPubMedGoogle Scholar
  • 4 Santorum M, Wright D, Syngelaki A. et al. Accuracy of first‐trimester combined test in screening for trisomies 21, 18 and 13. Ultrasound Obstetrics Amp Gynecol 2017; 49: 714-720
    CrossrefPubMedGoogle Scholar
  • 5 Karim JN, Roberts NW, Salomon LJ. et al. Systematic review of first‐trimester ultrasound screening for detection of fetal structural anomalies and factors that affect screening performance. Ultrasound Obst Gyn 2017; 50: 429-441
    CrossrefPubMedGoogle Scholar
  • 6 O’Gorman N, Wright D, Poon LC. et al. Accuracy of competing-risks model in screening for pre-eclampsia by maternal factors and biomarkers at 11–13 weeks’ gestation. Ultrasound in Obstetrics & Gynecology 2017; 49: 751-755
    CrossrefPubMedGoogle Scholar
  • 7 Rolnik DL, Wright D, Poon LC. et al. Aspirin versus Placebo in Pregnancies at High Risk for Preterm Preeclampsia. New England Journal of Medicine 2017; 377: 613-622
    CrossrefPubMedGoogle Scholar
  • 8 Rolnik DL, Wright D, Poon LCY. et al. ASPRE trial: performance of screening for preterm pre‐eclampsia. Ultrasound in Obstetrics & Gynecology 2017; 50: 492-495
    CrossrefPubMedGoogle Scholar
  • 9 von Kaisenberg C, Chaoui R, Häusler M. et al. Quality Requirements for the early Fetal Ultrasound Assessment at 11–13+6 Weeks of Gestation (DEGUM Levels II and III). Ultraschall in der Medizin – European Journal of Ultrasound 2016; 37: 297-302
    Article in Thieme ConnectPubMedGoogle Scholar
  • 10 Nicolaides KH. Turning the Pyramid of Prenatal Care. Fetal diagnosis and therapy 2011; 29: 183-196
    CrossrefPubMedGoogle Scholar
  • 11 Kozlowski P, Burkhardt T, Gembruch U. et al. 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) 2019; 40: 176-193
    Article in Thieme ConnectPubMedGoogle Scholar
  • 12 Kagan KO, Eiben B, Kozlowski P. Kombiniertes Ersttrimesterscreening und zellfreie fetale DNA – „Next Generation Screening“. Ultraschall in der Medizin (Stuttgart, Germany : 1980) 2014; 35: 229-236
    Article in Thieme ConnectPubMedGoogle Scholar
  • 13 Quezada MS, Gil MM, Francisco C. et al. Screening for trisomies 21, 18 and 13 by cell‐free DNA analysis of maternal blood at 10–11 weeks’ gestation and the combined test at 11–13 weeks. Ultrasound Obst Gyn 2015; 45: 36-41
    CrossrefPubMedGoogle Scholar
  • 14 Gil MM, Accurti V, Santacruz B. et al. Analysis of cell-free DNA in maternal blood in screening for aneuploidies: updated meta-analysis. Ultrasound in Obstetrics & Gynecology 2017; 50: 302-314
    CrossrefPubMedGoogle Scholar
  • 15 Screening for Fetal Chromosomal Abnormalities: ACOG Practice Bulletin Summary, Number 226. Obstetrics Gynecol 2020; 136: 859-867
    CrossrefPubMedGoogle Scholar
  • 16 Mol BWJ, Roberts CT, Thangaratinam S. et al. Pre-eclampsia. Lancet 2016; 387: 999-1011
    CrossrefPubMedGoogle Scholar
  • 17 Schleußner E. The prevention, diagnosis and treatment of premature labor. Deutsches Ärzteblatt international 2013; 110: 227-235 -quiz 236
    PubMedGoogle Scholar
  • 18 registry E. Prenatal detection rates charts and tables [Internet]. n. d.Available from: https://eu-rd-platform.jrc.ec.europa.eu/eurocat/eurocat-data/prenatal-screening-and-diagnosis_en
    PubMedGoogle Scholar
  • 19 (IQWiG) I für Q und W im G. Dokumentation und Wuerdigung der Stellungnahmen zum Vorbericht Ultraschallscreening in der Schwangerschaft. 2005
    PubMedGoogle Scholar
  • 20 Rydberg C, Tunón K. Detection of fetal abnormalities by second-trimester ultrasound screening in a non-selected population. Acta Obstetricia et Gynecologica Scandinavica 2017; 96: 176-182
    CrossrefPubMedGoogle Scholar
  • 21 IQWiG I für Q und W im G. Nichtinvasive Pränataldiagnostik (NIPD) zur Bestimmung des Risikos autosomaler Trisomien 13, 18 und 21 bei Risikoschwangerschaften. 2017 Dec;1–118.
    PubMedGoogle Scholar
  • 22 Liao Y, Wen H, Ouyang S. et al. Routine first-trimester ultrasound screening using a standardized anatomical protocol. Am J Obstet Gynecol 2020; DOI: 10.1016/j.ajog.2020.10.037.
    CrossrefPubMedGoogle Scholar
  • 23 Kenkhuis MJA, Bakker M, Bardi F. et al. Yield of a 12‐13 week scan for the early diagnosis of fetal congenital anomalies in the cell‐free DNA era. Ultrasound in Obstetrics & Gynecology 2017; DOI: 10.1002/uog.17487.
    CrossrefPubMedGoogle Scholar
  • 24 Bardi F, Smith E, Kuilman M. et al. Early Detection of Structural Anomalies in a Primary Care Setting in the Netherlands. Fetal Diagn Ther 2019; 46: 12-19
    CrossrefPubMedGoogle Scholar
  • 25 Wagner P, Sonek J, Eberle K. et al. First trimester screening for major cardiac defects based on the ductus venosus flow in fetuses with trisomy 21. Prenatal diagnosis. 2018; 38: 561-566
    CrossrefPubMedGoogle Scholar
  • 26 Kagan KO, Sroka F, Sonek J. et al. First-trimester risk assessment based on ultrasound and cell-free DNA vs combined screening: a randomized controlled trial. Ultrasound in Obstetrics & Gynecology 2018; 51: 437-444
    CrossrefPubMedGoogle Scholar
  • 27 Minnella GP, Crupano FM, Syngelaki A. et al. 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 Obst Gyn 2020; 55: 637-644
    CrossrefPubMedGoogle Scholar
  • 28 Souka AP, Kaisenberg CSV, Hyett JA. et al. Increased nuchal translucency with normal karyotype. American Journal of Obstetrics and Gynecology 2005; 192: 1005-1021
    CrossrefPubMedGoogle Scholar
  • 29 Volpe N, Dall’Asta A, Pasquo ED. et al. First‐trimester fetal neurosonography: technique and diagnostic potential. Ultrasound Obst Gyn 2021; 57: 204-214
    CrossrefPubMedGoogle Scholar
  • 30 Syngelaki A, Hammami A, Bower S. et al. Diagnosis of fetal non-chromosomal abnormalities on routine ultrasound examination at 11–13 weeks’ gestation. Ultrasound in Obstetrics & Gynecology 2019; 54: 468-476
    CrossrefPubMedGoogle Scholar
  • 31 TG 2015 O.. Health Effects of Overweight and Obesity in 195 Countries over 25 Years. New England Journal of Medicine 2017; 377: 13-27
    CrossrefPubMedGoogle Scholar
  • 32 Poston L, Caleyachetty R, Cnattingius S. et al. Preconceptional and maternal obesity: epidemiology and health consequences. The lancet Diabetes & endocrinology 2016; 4: 1025-1036
    CrossrefPubMedGoogle Scholar
  • 33 Eastwood K-A, Daly C, Hunter A. et al. The impact of maternal obesity on completion of fetal anomaly screening. J Perinat Med 2017; 45: 1061-1067
    PubMedGoogle Scholar
  • 34 Thornburg LL, Miles K, Ho M. et al. Fetal anatomic evaluation in the overweight and obese gravida. Ultrasound Obst Gyn 2009; 33: 670-675
    CrossrefPubMedGoogle Scholar
  • 35 Toscano M, Grace D, Pressman EK. et al. Does transvaginal ultrasound at 13–15 weeks improve anatomic survey completion rates in obese gravidas?. J Maternal-fetal Neonatal Medicine 2019; 34: 1-251
    PubMedGoogle Scholar
  • 36 Pasquo ED, Amiel J, Roth P. et al. Efficiency of prenatal diagnosis in Pierre Robin sequence. Prenatal Diag 2017; 37: 1169-1175
    CrossrefPubMedGoogle Scholar
  • 37 Yaron Y. The implications of non-invasive prenatal testing failures: a review of an under-discussed phenomenon. Prenatal diagnosis 2016; 36: 391-396
    CrossrefPubMedGoogle Scholar
  • 38 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 in Obstetrics & Gynecology 2016; 47: 698-704
    CrossrefPubMedGoogle Scholar
  • 39 Palomaki GE, Kloza EM, Lambert-Messerlian GM. et al. DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study. Genetics in medicine : official journal of the American College of Medical Genetics 2011; 13: 913-920
    CrossrefPubMedGoogle Scholar
  • 40 Agathokleous M, Chaveeva P, Poon LCY. et al. Meta-analysis of second-trimester markers for trisomy 21. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2013; 41: 247-261
    CrossrefPubMedGoogle Scholar
  • 41 Grati FR, Kagan KO. Rate of no result in cell-free DNA testing and its influence on test performance metrics. Ultrasound in Obstetrics & Gynecology 2017; 50: 134-137
    CrossrefPubMedGoogle Scholar
  • 42 Tørring N, Petersen OB, Becher N. et al. First trimester screening for other trisomies than trisomy 21, 18, and 13. Prenatal diagnosis 2015; 35: 612-619
    CrossrefPubMedGoogle Scholar
  • 43 Petersen OB, Vogel I, Ekelund C. et al. Potenzial diagnostic consequences of applying non-invasive prenatal testing: population-based study from a country with existing first-trimester screening. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2014; 43: 265-271
    CrossrefPubMedGoogle Scholar
  • 44 Syngelaki A, Guerra L, Ceccacci I. et al. Impact of holoprosencephaly, exomphalos, megacystis and increased nuchal translucency on first-trimester screening for chromosomal abnormalities. Ultrasound in Obstetrics & Gynecology 2017; 50: 45-48
    CrossrefPubMedGoogle Scholar
  • 45 Syngelaki A, Pergament E, Homfray T. et al. Replacing the combined test by cell-free DNA testing in screening for trisomies 21, 18 and 13: impact on the diagnosis of other chromosomal abnormalities. Fetal diagnosis and therapy 2014; 35: 174-184
    CrossrefPubMedGoogle Scholar
  • 46 Kagan KO, Hoopmann M, Hammer R. et al. Screening for chromosomal abnormalities by first trimester combined screening and noninvasive prenatal testing. Ultraschall in der Medizin (Stuttgart, Germany : 1980) 2015; 36: 40-46
    PubMedGoogle Scholar
  • 47 Sabbagh R, den Veyver IBV. The current and future impact of genome-wide sequencing on fetal precision medicine. Hum Genet 2020; 139: 1121-1130
    CrossrefPubMedGoogle Scholar
  • 48 Chong HP, Hamilton S, Mone F. et al. Prenatal chromosomal microarray testing of fetuses with ultrasound structural anomalies: A prospective cohort study of over 1000 consecutive cases. Prenatal diagnosis 2019; 39: 1064-1069
    CrossrefPubMedGoogle Scholar
  • 49 Mulvey S, Wallace EM. Women’s knowledge of and attitudes to first and second trimester screening for Down’s syndrome. Bjog Int J Obstetrics Gynaecol 2000; 107: 1302-1305
    CrossrefPubMedGoogle Scholar
  • 50 Bartlett LA, Berg CJ, Shulman HB. et al. Risk factors for legal induced abortion-related mortality in the United States. Obstetrics and gynecology 2004; 103: 729-737
    CrossrefPubMedGoogle Scholar
  • 51 Mark KS, Bragg B, Talaie T. et al. Risk of complication during surgical abortion in obese women. American journal of obstetrics and gynecology 2017; DOI: 10.1016/j.ajog.2017.10.018.
    CrossrefPubMedGoogle Scholar
  • 52 Korenromp MJ, Page-Christiaens GCML, van den Bout J. et al. A prospective study on parental coping 4 months after termination of pregnancy for fetal anomalies. Prenatal Diag 2007; 27: 709-716
    CrossrefPubMedGoogle Scholar
  • 53 Davies V, Gledhill J, McFadyen A. et al. Psychological outcome in women undergoing termination of pregnancy for ultrasound-detected fetal anomaly in the first and second trimesters: a pilot study. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2005; 25: 389-392
    CrossrefPubMedGoogle Scholar
  • 54 Zemet R, Haas J, Bart Y. et al. Optimal timing of fetal reduction from twins to singleton: earlier the better or later the better?. Ultrasound Obst Gyn 2021; 57: 134-140
    CrossrefPubMedGoogle Scholar