Clinical experience of unexpected findings in prenatal array testing

Biomark Med. 2016 Aug;10(8):831-40. doi: 10.2217/bmm-2016-0054. Epub 2016 Jul 14.

Abstract

Aim: The aim of this study was to evaluate whether unexpected diagnoses (UD) made by prenatal array testing contribute to pregnancy management.

Patients & methods: In 2010-2015 in 19/4043 (0.5%) pregnancies an UD was made. The clinical usefulness of UDs was assessed based on the couple's responses during post-test counseling and their decisions.

Results: In 16/19 cases, the UD was helpful either for the couples in making a decision about the course of their pregnancy, for perinatal management or family genetic counseling.

Conclusion: The majority of the pregnant couples found the UDs relevant for pregnancy management and genetic counseling. This adds another motive for offering whole genome array during pregnancy in patients who wish broad testing of their fetus.

Keywords: array; incidental findings; post-test counseling; prenatal diagnosis; pretest counseling; unexpected diagnosis.

MeSH terms

  • DNA Copy Number Variations
  • Down Syndrome / diagnosis
  • Down Syndrome / genetics
  • Female
  • Genetic Counseling*
  • Genome, Human
  • Gestational Age
  • Heart Defects, Congenital / diagnosis
  • Heart Defects, Congenital / genetics
  • Humans
  • Oligonucleotide Array Sequence Analysis
  • Polymorphism, Single Nucleotide
  • Pregnancy
  • Prenatal Diagnosis
  • Ultrasonography