Table 5. Clinical details of positive microdeletions on cfDNA screening in multifetal gestations.
Positive microdeletion on cfDNA screen | Indication for screening | Gestational age (weeks) | Diagnostic testing | Accuracy of cfDNA results |
---|---|---|---|---|
del22q11 | Maternal Age and Ultrasound Finding | 28 | Confirmed postnatal diagnosis | True positive |
del22q11 | Ultrasound Finding | 34 | Declined diagnostic testing | Suspected positive due to clinical findings |
del5p15 | Maternal Age | 10 | Confirmed by prenatal diagnosis | True positive |
del8q24 | Maternal Age | 11 | Negative prenatal diagnosis | False positive |
del8q24 | Maternal Age | 14 | Declined diagnostic testing | Suspected positive due to clinical findings |
del15q11 | Other high risk | 13 | Confirmed prenatal diagnosis | True positive |