Updated position statement from the International Society for Prenatal Diagnosis (ISPD) on the use of non-invasive prenatal testing for the detection of fetal chromosomal conditions in singleton pregnancies:
ISPD have recently published a position statement in Prenatal Diagnosis on the use of non-invasive prenatal testing for the detection of fetal chromosomal conditions in singleton pregnancies.
This new position statement replaces the 2015 statement with updated information on the current technologies, clinical experience, and implementation practices; and compliments their 2020 position statement supporting the use of NIPT to screen for common autosomal trisomy’s in twin pregnancies.
This position statement is not a clinical practice guideline but represents the consensus opinion of the current ISPD Board of Directors, based on the current state of knowledge and clinical practice.
Consensus statements from this document include the following:
- NIPT is the most accurate screening test for the common autosomal aneuploidies in unselected singleton populations and those at known increased probability.
- NIPT for the common autosomal aneuploidies performs sufficiently well to be offered in primary or contingent screening models.
- All patients should have access to pre- and post-test genetic counselling. Those with a high chance NIPT result should be offered diagnostic testing for confirmation.
- ISPD strongly recommends that all pregnant individuals with a high chance NIPT result have genetic counselling and diagnostic testing if they are considering termination of pregnancy.
- Providers (laboratory and clinicians) should have established clinical pathways for the management of patients with a ‘no call’ result. This may include detailed ultrasound, offer of repeat NIPT, alternative screening test, and/or diagnostic testing.
- If technically relevant, protocols for the identification and disclosure of suspected malignancy should be developed by laboratories.
- NIPT for sex chromosome aneuploidy (SCA) is sufficiently accurate to be offered alongside autosomal aneuploidy screening with specific pretest counselling and consent.
- There is insufficient data to assess the performance and clinical utility of routine NIPT for rare autosomal trisomy’s (RATs) and subchromosomal imbalances.
- Genome-wide NIPT that includes subchromosomal imbalances should not be considered a comprehensive screen for all pathogenic CNVs as many pathogenic CNVs are below the limits of resolution of genome-wide NIPT.
- NIPT for microdeletion and microduplication syndromes (MMS) has insufficient data and is not recommended for routine care. Further prospective studies are required to evaluate all aspects of MMS screening with cfDNA.
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