You are here

  • Home
  • Archive
  • Volume 61, Issue 8
  • Guidelines for NGS procedures applied to prenatal diagnosis by the Spanish Society of Gynecology and Obstetrics and the Spanish Association of Prenatal Diagnosis

Article Text

Article menu
Download PDFPDF
Clinical guidelines
Position statement
Guidelines for NGS procedures applied to prenatal diagnosis by the Spanish Society of Gynecology and Obstetrics and the Spanish Association of Prenatal Diagnosis
  1. Anna Abulí1,2,
  2. Eugenia Antolín3,
  3. Antoni Borrell4,
  4. Maria Garcia-Hoyos5,
  5. Fe García Santiago6,
  6. Irene Gómez Manjón7,
  7. Nerea Maíz8,9,
  8. Cristina González González10,
  9. Laia Rodríguez-Revenga11,12,
  10. Irene Valenzuena Palafoll1,
  11. Javier Suela13
  1. 1 Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Barcelona, Spain
  2. 2 Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain
  3. 3 Gynecology and Obstetrics, La Paz University Hospital, Madrid, Spain
  4. 4 Gynecology and Obstetrics, Clinic Hospital of Barcelona, Barcelona, Spain
  5. 5 NIMGenetics Laboratory, Madrid, Spain
  6. 6 Genetics, La Paz University Hospital, Madrid, Spain
  7. 7 Genetics, Doce de Octubre University Hospital, Madrid, Spain
  8. 8 Maternal-Fetal Medicine Research Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain
  9. 9 Obstetrics, Vall d'Hebron University Hospital, Barcelona, Spain
  10. 10 Genetics, Infanta Sofía University Hospital, San Sebastian de los Reyes, Madrid, Spain
  11. 11 Biochemistry and Molecular Genetics, Clinic Hospital of Barcelona, Barcelona, Spain
  12. 12 August Pi Sunyer Biomedical Research Institute (IDIBAPS), Barcelona, Spain
  13. 13 Genetics, Sanitas Central Laboratory, Alcobendas, Spain
  1. Correspondence to Dr Javier Suela, Genetics, Laboratorio Central Sanitas, Alcobendas, Spain; jsuela{at}sanitas.es

Abstract

Objective This document addresses the clinical application of next-generation sequencing (NGS) technologies for prenatal genetic diagnosis and aims to establish clinical practice recommendations in Spain to ensure uniformity in implementing these technologies into prenatal care.

Methods A joint committee of expert obstetricians and geneticists was created to review the existing literature on fetal NGS for genetic diagnosis and to make recommendations for Spanish healthcare professionals.

Results This guideline summarises technical aspects of NGS technologies, clinical indications in prenatal setting, considerations regarding findings to be reported, genetic counselling considerations as well as data storage and protection policies.

Conclusions This document provides updated recommendations for the use of NGS diagnostic tests in prenatal diagnosis. These recommendations should be periodically reviewed as our knowledge of the clinical utility of NGS technologies, applied during pregnancy, may advance.

  • genetic testing
  • exome sequencing
  • pregnancy tests

https://doi.org/10.1136/jmg-2024-109878

Statistics from Altmetric.com

    Request Permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

    View Full Text

    Footnotes

    • Contributors All authors wrote and reviewed the document.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Competing interests MG-H works in NIMGenetics, a private genetics lab currently performing prenatal NGS.

    • Provenance and peer review Not commissioned; externally peer reviewed.