Introduction of cell‐free DNA screening is associated with changes in prenatal genetic counseling indications

The introduction of cell‐free DNA screening, or non‐invasive prenatal testing (NIPT), for chromosome abnormalities has greatly impacted prenatal care since its introduction in late 2011. We aimed to evaluate the association between the introduction of cell‐free DNA screening and indication and refer...

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Bibliographic Details
Published in:Journal of genetic counseling 2019-06, Vol.28 (3), p.692-699
Main Authors: Stevens, Blair K., Noblin, Sarah J., Chen, Han‐Yang, Czerwinski, Jennifer, Friel, Lara A., Wagner, Chelsea
Format: Article
Language:English
Subjects:
Amniocentesis
cell‐free DNA
Chromosome aberrations
Chromosome abnormalities
Chromosomes
Counseling services
Deoxyribonucleic acid
diagnostic testing
DNA
Genetic counseling
genetic counselor
Genetic screening
Genetic testing
indication
Invasive
Maternal serum
Medical diagnosis
NIPT
non‐invasive prenatal testing
prenatal
Prenatal development
Prenatal testing
referral
Regression analysis
Sampling
screening
Serum
Ultrasound
Uptake
Villus
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Summary:The introduction of cell‐free DNA screening, or non‐invasive prenatal testing (NIPT), for chromosome abnormalities has greatly impacted prenatal care since its introduction in late 2011. We aimed to evaluate the association between the introduction of cell‐free DNA screening and indication and referral patterns for genetic counseling at a large US academic medical center by comparing the percentage of each counseling indication between the time period prior to the introduction of cell‐free DNA screening (2006–2011) and following its introduction (2012–2016) using multivariable Poisson regression models. Genetic counseling indications for positive carrier screens, average risk patients, abnormal ultrasound findings, and family history indications were significantly higher following the introduction of NIPT while advanced maternal age and abnormal maternal serum screening indications dropped significantly. We also showed that the uptake of amniocentesis dropped significantly after the introduction of cell‐free DNA screening, while chorionic villus sampling uptake increased. These results provide evidence that the introduction of new genetic screening technologies is associated with a shift in genetic counseling referral indications and an increased uptake in genetic screening. Additional research is needed to explore the impact of expanded testing options on the need for genetic counseling services.
ISSN:1059-7700
1573-3599
DOI:10.1002/jgc4.1095