Implementation of circulating cell-free DNA screening for fetal aneuploidies

• Irene Madrigal Bajo ^[2] ; Meritxell Jodar Bifet ^[1] ; Celia Badenas Orquin ^[3]
  1. [1] Universitat de Barcelona

     Universitat de Barcelona

     Barcelona, España

     
  2. [2] Service of Biochemistry and Genetics, Clinical Hospital of Barcelona and FCRB-Institute of Biomedical Research August Pi I Sunyer (IDIBAPS), Villarroel 170, 08036, Barcelona, Spain; and Rare Diseases Networking Biomedical Research Centre (CIBERER), 08036, Barcelona, Spain, E-mail: imadbajo@clinic.cat
  3. [3] Rare Diseases Networking Biomedical Research Centre (CIBERER), Barcelona, Spain; and Service of Biochemistry and Genetics, Clinical Hospital of Barcelona and FCRB-Institute of Biomedical Research August Pi I Sunyer (IDIBAPS), Barcelona, Spain

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• Localización: Advances in Laboratory Medicine / Avances en Medicina de Laboratorio, ISSN-e 2628-491X, Vol. 6, Nº. 2, 2025, págs. 135-143
• Idioma: inglés
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• Resumen

  • Introduction: Circulating cell-free DNA (cfDNA) consists of extracellular DNA fragments that circulate in the bloodstream and derived from apoptotic cells such as hematopoietic cells or placental trophoblast cells during pregnancy.

    Contents: cfDNA screening has been included in prenatal screening programs for the detection of chromosomal abnormalities. Unlike other invasive techniques, such as amniocentesis or chorionic villus sampling, cfDNA screening only requires a maternal plasma test. The use of advanced technologies for cfDNA testing, including DNA sequencing and SNP arrays, enables the detection of pregnancies at risk for trisomy 21, 18 or 13.

    Summary: This test has demonstrated a high accuracy and reliability, with detection rates exceeding 99 % for trisomy 21, and a very low rate of false-positive and false-negative results. In some countries, cfDNA screening has already been integrated in combined or universal prenatal screening programs.

    Outlook: As new technologies emerge and become widely available, more accurate prenatal tests will be developed for other genetic abnormalities.