Cell-free fetal DNA (cffDNA) circulates in a pregnant woman’s blood in early pregnancy and is a potential source of genetic material from the developing fetus that can be used to test the baby for selected genetic conditions.
Commonly referred to as non-invasive prenatal diagnosis (NIPD), this testing can be performed on a blood sample taken from the mother any time from 8 weeks of gestation, i.e. earlier than traditional invasive testing and without the small risk of miscarriage associated with invasive testing.
In specific single gene conditions, NIPD can be offered as an alternative to invasive testing. Where this is available, it is targeted to detect specific genetic variations in pregnancies at high risk, either because of a family history or due to specific ultrasound findings. In these scenarios, testing is considered diagnostic because familial variants, or specific variants with matching phenotype are being investigated.
NIPD is available via the UK NHS for use in specific clinical scenarios, as discussed in this Scientific Impact Paper.
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This is the first edition of this paper.
Please note that the Scientific Advisory Committee regularly assesses the need to update. Further information on this review is available on request.
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