Skip to main content
SpringerLink
Log in

Fehlbildungsdiagnostik im zweiten Trimenon

Strukturierte Erfassung des pränatalen Phänotyps als Schlüssel zur Diagnose

Diagnosis of fetal abnormalities in the second trimester

Systematic assessment of the prenatal phenotype as the key to diagnosis

  • Leitthema
  • Published:
Der Gynäkologe Aims and scope

A Publisher's Erratum to this article was published on 01 September 2021

This article has been updated

Zusammenfassung

Im Rahmen der „Feindiagnostik“ werden im zweiten Trimenon in etwa 5 % aller Schwangerschaften Auffälligkeiten im Phänotyp erfasst. Eine systematische Beurteilung der fetalen Sonoanatomie sollte zusätzliche strukturelle Fehlbildungen ausschließen und führt, ggf. in Kombination mit einer genetischen Untersuchung, oftmals zur Diagnose. Vorgestellt werden im Folgenden Beispiele für morphologische Auffälligkeiten: die Dys- oder Agenesie des Corpus callosum als Fehlbildung des zentralen Nervensystems, Gesichts- und Extremitätenfehlbildungen als Hinweise auf Syndrome oder Chromosomenstörungen und der atrioventrikuläre Septumdefekt als Beispiel einer oft mit Chromosomenanomalien einhergehenden Herzfehlbildung. In Zukunft wird die Exomsequenzierung bei sonographisch diagnostizierten Fehlbildungen unklarer Diagnose routinemäßig mit angeboten werden.

Abstract

A second-trimester ultrasound examination evaluating fetal anatomy shows congenital defects in 5% of pregnancies. When a fetal abnormality is identified, the next step would be to determine systematically whether there are additional structural abnormalities. By offering additional invasive testing most of the disorders can be identified. In the following, examples of morphological abnormalities are presented including agenesis or dysgenesis of the corpus callosum as an example of a central nervous system abnormality, facial and limb abnormalities as an indication of syndromes or chromosomal defects and the atrioventricular septal defect as an example of a congenital heart defect in conjunction with chromosomal abnormalities. It is anticipated that prenatal whole exome sequencing will soon be routinely offered in all cases with ultrasound anomalies that undergo invasive sampling.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Abb. 1
Abb. 2
Abb. 3
Abb. 4
Abb. 5
Abb. 6
Abb. 7
Abb. 8
Abb. 9
Abb. 10
Abb. 11
Abb. 12
Abb. 13

Change history

Literatur

  1. Abramowicz JS (2021) Obstetric ultrasound: where are we and where are we going? Ultrasonography 40(1):57–74

    Article  Google Scholar 

  2. Dolk H, Loane M, Garne E (2010) The prevalence of congenital anomalies in Europe. Adv Exp Med Biol 686:349–364

    Article  Google Scholar 

  3. Salomon LJ, Alfirevic Z, Berghella V, Bilardo C, Hernandez-Andrade E, Johnsen SL et al (2011) Practice guidelines for performance of the routine mid-trimester fetal ultrasound scan. Ultrasound Obstet Gynecol 37(1):116–126

    Article  CAS  Google Scholar 

  4. Merz E, Eichhorn KH, von Kaisenberg C, Schramm T, Arbeitsgruppe der D‑S, III (2012) Updated quality requirements regarding secondary differentiated ultrasound examination in prenatal diagnostics (= DEGUM level II) in the period from 18 + 0 to 21 + 6 weeks of gestation. Ultraschall Med 33(6):593–596

    Article  CAS  Google Scholar 

  5. Cargill Y, Morin L (2017) No. 223-content of a complete routine second trimester obstetrical ultrasound examination and report. J Obstet Gynaecol Can 39(8):e144–e9

    Article  Google Scholar 

  6. AIUM Practice Parameter for the Performance of Detailed Second- and Third-Trimester Diagnostic Obstetric Ultrasound Examinations. J Ultrasound Med. 2019;38(12):3093–100.

  7. Salomon LJ, Alfirevic Z, Da Silva Costa F, Deter RL, Figueras F, Ghi T et al (2019) ISUOG Practice Guidelines: ultrasound assessment of fetal biometry and growth. Ultrasound Obstet Gynecol 53(6):715–723

    Article  CAS  Google Scholar 

  8. Kahler C, Schramm T, Bald R, Gembruch U, Merz E, Eichhorn KH (2020) Updated DEGUM Quality Requirements for the Basic Prenatal Screening Ultrasound Examination (DEGUM Level I) between 18 + 0 and 21 + 6 weeks of gestation. Ultraschall Med 41(5):499–503

    Article  Google Scholar 

  9. Palmer EE, Mowat D (2014) Agenesis of the corpus callosum: a clinical approach to diagnosis. Am J Med Genet C Semin Med Genet 166C(2):184–197

    Article  Google Scholar 

  10. Volpe P, Paladini D, Resta M, Stanziano A, Salvatore M, Quarantelli M et al (2006) Characteristics, associations and outcome of partial agenesis of the corpus callosum in the fetus. Ultrasound Obstet Gynecol 27(5):509–516

    Article  CAS  Google Scholar 

  11. International Society of Ultrasound in O, Gynecology Education C (2007) Sonographic examination of the fetal central nervous system: guidelines for performing the ’basic examination’ and the ‘fetal neurosonogram. Ultrasound Obstet Gynecol 29(1):109–116

    Article  Google Scholar 

  12. Shen O, Gelot AB, Moutard ML, Jouannic JM, Sela HY, Garel C (2015) Abnormal shape of the cavum septi pellucidi: an indirect sign of partial agenesis of the corpus callosum. Ultrasound Obstet Gynecol 46(5):595–599

    Article  CAS  Google Scholar 

  13. de Jong-Pleij EA, Ribbert LS, Pistorius LR, Tromp E, Bilardo CM (2012) The fetal profile line: a proposal for a sonographic reference line to classify forehead and mandible anomalies in the second and third trimester. Prenat Diagn 32(8):797–802

    Article  Google Scholar 

  14. Lewis MB, Pashayan HM (1980) Management of infants with Robin anomaly. Clin Pediatr 19(8):519–521, 525–8

    Article  CAS  Google Scholar 

  15. Paladini D, Volpe P, Sglavo G, Russo MG, De Robertis V, Penner I et al (2009) Partial atrioventricular septal defect in the fetus: diagnostic features and associations in a multicenter series of 30 cases. Ultrasound Obstet Gynecol 34(3):268–273

    Article  CAS  Google Scholar 

  16. ter Heide H, Thomson JD, Wharton GA, Gibbs JL (2004) Poor sensitivity of routine fetal anomaly ultrasound screening for antenatal detection of atrioventricular septal defect. Heart 90(8):916–917

    Article  Google Scholar 

  17. Machlitt A, Heling KS, Chaoui R (2004) Increased cardiac atrial-to-ventricular length ratio in the fetal four-chamber view: a new marker for atrioventricular septal defects. Ultrasound Obstet Gynecol 24(6):618–622

    Article  CAS  Google Scholar 

  18. Berg C, Geipel A, Kamil D, Knuppel M, Breuer J, Krapp M et al (2005) The syndrome of left isomerism: sonographic findings and outcome in prenatally diagnosed cases. J Ultrasound Med 24(7):921–931

    Article  Google Scholar 

  19. Bromley B, Shipp TD, Benacerraf B (2000) Isolated polydactyly: prenatal diagnosis and perinatal outcome. Prenat Diagn 20(11):905–908

    Article  CAS  Google Scholar 

  20. Malik S (2014) Polydactyly: phenotypes, genetics and classification. Clin Genet 85(3):203–212

    Article  CAS  Google Scholar 

  21. Cox H, Viljoen D, Versfeld G, Beighton P (1989) Radial ray defects and associated anomalies. Clin Genet 35(5):322–330

    Article  CAS  Google Scholar 

  22. Werler MM, Yazdy MM, Mitchell AA, Meyer RE, Druschel CM, Anderka M et al (2013) Descriptive epidemiology of idiopathic clubfoot. Am J Med Genet A 161A(7):1569–1578

    Article  Google Scholar 

  23. Liao H, Cai A, Wang B, Wang X, Yan Z, Li J (2012) Value of the fetal plantar shape in prenatal diagnosis of talipes equinovarus. J Ultrasound Med 31(7):997–1002

    Article  Google Scholar 

  24. Sharon-Weiner M, Sukenik-Halevy R, Tepper R, Fishman A, Biron-Shental T, Markovitch O (2017) Diagnostic accuracy, work-up, and outcomes of pregnancies with clubfoot detected by prenatal sonography. Prenat Diagn 37(8):754–763

    Article  Google Scholar 

  25. Kiefer J, Hall JG (2019) Gene ontology analysis of arthrogryposis (multiple congenital contractures). Am J Med Genet C Semin Med Genet 181(3):310–326

    Article  Google Scholar 

  26. Laquerriere A, Jaber D, Abiusi E (2021) Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita. J Med Genet. https://doi.org/10.1136/jmedgenet-2020-107595

    Article  PubMed  Google Scholar 

  27. Callaway JL, Shaffer LG, Chitty LS, Rosenfeld JA, Crolla JA (2013) The clinical utility of microarray technologies applied to prenatal cytogenetics in the presence of a normal conventional karyotype: a review of the literature. Prenat Diagn 33(12):1119–1123

    Article  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Klinik für Geburtsmedizin, Charité – Universitätsmedizin Berlin, Berlin, Deutschland

    Anna M. Dückelmann

  2. Maternal-Fetal Medicine, Sidra Medicine – Weill Cornell Medical College, Doha, Katar

    Karim D. Kalache

Authors
  1. Anna M. Dückelmann
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Karim D. Kalache
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Karim D. Kalache.

Ethics declarations

Interessenkonflikt

A.M. Dückelmann und K.D. Kalache geben an, dass kein Interessenkonflikt besteht.

Für diesen Beitrag wurden von den Autoren keine Studien an Menschen oder Tieren durchgeführt. Für die aufgeführten Studien gelten die jeweils dort angegebenen ethischen Richtlinien.

Additional information

Redaktion

A. Schröer, Berlin

K. Vetter, Berlin

figure qr

QR-Code scannen & Beitrag online lesen

Die ursprüngliche Online-Version dieses Artikels wurde überarbeitet: Bei der Korrespondenzadresse wurden die Informationen der Co-Autorin verwendet, dies wurde nun korrigiert.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Dückelmann, A.M., Kalache, K.D. Fehlbildungsdiagnostik im zweiten Trimenon. Gynäkologe 54, 555–562 (2021). https://doi.org/10.1007/s00129-021-04833-1

Download citation

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00129-021-04833-1

Schlüsselwörter

Keywords

Search

Navigation