Noninvasive Prenatal Testing for Chromosomal and Genetic Conditions


Recent advances in molecular genetics and next‐generation DNA (deoxyribonucleic acid) sequencing have generated a new approach to identifying foetuses at increased risk of chromosomal and genetic conditions by measuring cell‐free DNA in maternal plasma. This so‐called noninvasive method utilises cell‐free DNA of placental origin in maternal blood to achieve unprecedented accuracy as a prenatal screening test for Down syndrome. The technology has also created new opportunities for noninvasive testing for single gene disorders, microdeletion syndromes and genome‐wide chromosomal abnormalities.

Key Concepts

  • Cell‐free DNA derived from the placenta is detectable in the plasma of pregnant women from early gestation.
  • Noninvasive prenatal diagnosis (NIPD) of foetal conditions caused by paternally inherited genes can be performed by PCR‐based assays on cell‐free DNA in maternal plasma.
  • NIPD for foetal sex and foetal Rhesus blood group is clinically available in many countries.
  • Next‐generation DNA sequencing technology has facilitated the development of noninvasive prenatal screening tests for chromosomal disorders such as trisomy 21 (Down syndrome).
  • Noninvasive prenatal testing (NIPT) using cell‐free DNA is the most accurate screening test for trisomy 21 to date but still does not have diagnostic accuracy.
  • Invasive testing with amniocentesis or chorionic villus sampling remains the gold standard for prenatal diagnosis of chromosomal disorders.
  • The scope of chromosomal and genetic disorders detectable using cell‐free DNA is expanding rapidly, creating new ethical and medical issues.

Keywords: cell‐free DNA; noninvasive prenatal testing; noninvasive prenatal diagnosis; chromosomal abnormalities; prenatal screening; trisomy 21; Down syndrome; DNA sequencing; foetal abnormalities; single gene disorders

Figure 1. Counting principle of DNA sequencing of maternal plasma for foetal aneuploidy.
Figure 2. Timeline of commercially available NIPT assays for chromosome abnormalities.


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Further Reading

Allyse M, Minear MA, Berson E, et al. (2015) Non‐invasive prenatal testing: a review of international implementation and challenges. International Journal of Women's Health 7: 113–126.

Chitty LS and Lo YMD (2015) Noninvasive prenatal screening for genetic diseases using massively parallel sequencing of maternal plasma DNA. Cold Spring Harbor Perspectives in Medicine. ePub ahead of print. DOI: 10.1101/cshperspect.a023085.

Royal College of Obstetricans and Gynaecologists (2014) Non‐invasive Prenatal Testing For Chromosome Abnormality Using Maternal Plasma DNA. Scientific impact paper No. 15.

Sachs A, Blanchard L, Buchanan A, et al. (2015) Recommended pre‐test counselling points for noninvasive prenatal testing using cell‐free DNA: a 2015 perspective. Prenatal Diagnosis 35: 968–971.

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How to Cite close
Hui, Lisa(Jan 2016) Noninvasive Prenatal Testing for Chromosomal and Genetic Conditions. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1002/9780470015902.a0024388]