Prenatal genomic testing for ultrasound detected fetal structural anomalies

Kelly Reilly, Caoimhe McKenna, Simon McCullough, Shane McKee, Fionnuala Mone*

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

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Key content
• In the presence of a fetal structural anomaly, fetal DNA can be obtained through invasive testing (e.g. amniocentesis and chorionic villus sampling) in order to undertake genomic testing to attempt to uncover a unifying genetic diagnosis.
• There are number of traditional and more novel genomic tests available, which can identify aneuploidy, chromosomal structural variation and/or sequence variants within genes.
• The cumulative diagnostic yield of such technologies is approximately 25%, 6% and up to 80% in some cohorts for QF-PCR/G-banding karyotype, chromosome microarray and exome sequencing, respectively.

Learning objectives
• To understand the technical basis and clinical indications for QF-PCR, G-banding karyotype, chromosome microarray and exome sequencing.
• To appreciate the potential benefits and challenges associated with exome sequencing.
• To gain awareness of modern technologies that may be utilised to address recurrence risk, e.g. preimplantation genetic diagnosis and non-invasive prenatal diagnosis.

Ethical issues
• Not all technologies are currently available across all four nations of the UK, hence challenges are raised regarding healthcare equity.
• There can be uncertainty around the interpretation of prenatal genomic test results, which can have implications in counselling, particularly regarding termination of pregnancy.
• Incidental findings may be revealed, which can have implications for counselling and the future health of the fetus and the parents.

Original languageEnglish
Pages (from-to)121-130
Number of pages10
JournalThe Obstetrician and Gynaecologist
Issue number2
Publication statusPublished - Apr 2023


  • genomic
  • Prenatal
  • fetus
  • Fetus/abnormalities
  • Sequence Analysis, DNA
  • exome sequencing
  • Reviews
  • fetal structural anomaly
  • quantitative fluorescence polymerase chain reaction
  • Review
  • chromosome microarray


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