Clinical experience of unexpected findings in prenatal array testing. - PubMed - NCBI

Clinical experience of unexpected findings in prenatal array testing. - PubMed - NCBI

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

Clinical experience of unexpected findings in prenatal array testing.

Joosten M1, Diderich KE1, Van Opstal D1, Govaerts LC1, Riedijk SR1, Prinsen AK2, De Vries FA1, Go AT2, Galjaard RJ1, Srebniak MI1.

Author information

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

PMID:

 

27414702

 

DOI:

 

10.2217/bmm-2016-0054

[PubMed - in process]

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