ACOG Guidance on Using NIPS for Screening for Single Gene Disorders
ACOG has reaffirmed guidance regarding the use of NIPS for screening for single gene disorders. While the technology has continued to advance and can detect certain pathogenic variants derived from the pregnancy that are circulating in maternal blood, ACOG does not currently recommend the use of NIPS for single gene disorders.
Cell free DNA technology is recommended for fetal aneuploidy screening to assess risk for major aneuploidies such as trisomy 21 (Down syndrome), trisomy 18 and trisomy 13
Screening for fetal single gene disorders is part of obstetric care
ACOG recommends universal screening for cystic fibrosis and SMA and other disorders depending on underlying risk (see ‘Related ObG Topics’ below)
New technologies allow for ‘expanded’ panels that test for multiple disorders (>100 genetic diseases) and are becoming more common in general practice
Currently, screening usually begins with maternal molecular testing to determine whether the mother is a carrier for a particular disorder followed by testing the father if necessary
Most disorders currently available on these molecular carrier screening panels are autosomal recessive and therefore both parents would need to be carriers for the fetus to be at risk
NIPS has the capability to identify additional single gene disorders
Variants can be identified that would likely not be detected with molecular carrier testing such as autosomal dominant disorders
Some autosomal dominant pathogenic variants may be inherited but also may be present in the fetus but absent in the parents (i.e., de novo) such as Cornelia de Lange syndrome or achondroplasia
Some of these conditions are associated with advanced paternal age (≥40 at time of conception)
Single gene screening using NIPS is clinically available, although currently not recommended
…there has not been sufficient data to provide information regarding accuracy and positive and negative predictive value in the general population
For this reason, single-gene cell-free DNA screening is not currently recommended in pregnancy
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