Clinical utility of exome sequencing in the prenatal diagnosis of congenital anomalies: A review

Fionnuala Mone, Elizabeth Quinlan-Jones, Mark Kilby

Research output: Contribution to journalReview articlepeer-review

9 Citations (Scopus)
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Advances in prenatal genomics have enabled the assessment of not only the sub-microscopic structure of chromosomes using chromosomal microarray analysis, but also the detection of “pathogenic variants” to the resolution of a single base pair with the use of next generation sequencing. Research is emerging on the additional prenatal diagnostic yield that exome sequencing offers when structural fetal anomalies are detected on ultrasound examination, in particular the identification of monogenic abnormalities defining prognosis and recurrence of anomalies. Primarily assessed using fetal DNA obtained by invasive techniques (amniocytes or chorionic villi), this technology is progressing into a non-invasive approach using maternal plasma. There are several challenges, to be addressed before this technology can be introduced into routine clinical practice. These are primarily technical and interpretational but also relate to service provision; cost-effectiveness; turn-around time; patient acceptability and ethical dilemmas. With adequate pre- and post-test counselling many of these challenges may be overcome and such counselling has to be multi-disciplinary, involving clinical geneticists, genetic scientists, paediatricians, perinatal pathologists and fetal medicine subspecialists. There is therefore a need for obstetricians to have an understanding of the clinical utility, application, advantages and challenges of such technologies before introduction into routine clinical practice.
Original languageEnglish
Pages (from-to)19-24
JournalEuropean Journal of Obstetrics & Gynecology and Reproductive Biology
Early online date6 Oct 2018
Publication statusPublished - Dec 2018


  • next generation sequencing
  • exome sequencing
  • prenatal
  • monogenic
  • fetal anomaly
  • PAGE study


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