What makes prenatal 16p11.2 outcomes comparable?
by Imani Grey
The available metadata identifies a comparison of prenatal 16p11.2 microdeletion and microduplication, but it cannot establish how phenotypic variability or counseling implications were evaluated. Any contrast needs to keep CNV state separate from referral indication, ultrasound findings, parental inheritance, pregnancy outcome, and duration of postnatal observation.
How many prenatally identified cases received age-appropriate postnatal assessment, and did later findings revise the prenatal interpretation? Without comparable follow-up—and explicit accounting for terminated or lost pregnancies—apparent deletion–duplication differences may remain largely ascertainment-dependent.
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