Abstract
Twin pregnancies are at increased relative risk of many obstetric complications compared to singletons, including aneuploidy. Antenatal testing for aneuploidy in twin pregnancies, both invasive and noninvasive, has additional complexities compared to singleton pregnancies, in both dizygotic and monozygotic twinning. Although the accuracy of cell-free DNA-based noninvasive prenatal testing (cfDNA NIPT) in twin pregnancies for aneuploidy and fetal Rhesus D status appears comparable to singleton pregnancies, substantially fewer overall tests (and papers published) have been performed in twin pregnancies. Trisomy 18 and trisomy 13, in particular, have not been adequately investigated. Thus, when couples are being counseled for cfDNA NIPT they must be informed that there are insufficient data to definitively demonstrate its accuracy in standard clinical practice at present. Although research in this field is rapidly advancing, certain biological scenarios will mean that cfDNA NIPT will never be 100% accurate, as with current screening and invasive testing.
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