Foetal Diagnosis


New genetic testing approaches as well as a constant progress in the imaging technologies of the foetus have changed the practice of prenatal diagnosis during the past decade fundamentally. The greatly improved noninvasive risk assessment for common foetal aneuploidies by recent cell‐free DNA (cfDNA) testing technologies on maternal plasma (NIPT or NIPS) has been much acclaimed by pregnant women and their doctors as well and resulted in a significant decline of invasive testing requiring chorionic villus sampling or amniocentesis. Exclusion of foetal aneuploidy is still by far the most frequent indication for prenatal testing, and the growing number of options must be addressed in routine care for all pregnancies. Pregnancies at high risk for foetal aneuploidy or other copy number variations profit from high‐resolution karyotyping using chromosomal microarrays. Noninvasive prenatal diagnosis (NIPD) is established for the foetal sex or blood group markers and progressing for numerous monogenic conditions.

Key Concepts

  • Noninvasive testing of cell‐free DNA in the maternal plasma is an established screening tool for trisomy 21 and other common trisomies and has caused a significant decrease of invasive testing.
  • Cell‐free DNA testing for common aneuploidies with current technologies will likely not become diagnostic owing to its origin from trophoblast cells.
  • Targeted cell‐free DNA testing is a diagnostic option for a growing number of monogenic conditions.
  • Genomic testing approaches such as symptom‐ or disease‐based gene panels or whole‐exome sequencing spread slowly into invasive as well as noninvasive prenatal testing.
  • Genetic testing on amniotic fluid cells or placental villi is most comprehensive and accurate and remains the gold standard of foetal diagnosis.

Keywords: prenatal screening; prenatal diagnosis; noninvasive prenatal testing; noninvasive prenatal diagnosis; chorionic villus biopsy; amniocentesis


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Further Reading

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Yurkiewicz IR, Korf BR and Lehmann LS (2014) Prenatal whole‐genome sequencing is the quest to know a fetus's future ethical? The New England Journal of Medicine 370: 195–197.

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Miny, Peter, Filges, Isabel, Tercanli, Sevgi, and Holzgreve, Wolfgang(Sep 2018) Foetal Diagnosis. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1002/9780470015902.a0027053]