September 25, 2025Frontiers in GeneticsOpen Access

Intrauterine phenotype, genetic analysis, and pregnancy follow-up of fetuses with the 16p12.2 microdeletion

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Thirteen fetuses with the 16p12.2 microdeletion showed limited intrauterine-specific phenotypes, with eight having normal postnatal follow-up.
Among 12,000 cases, 0.1% were positive for the 16p12.2 microdeletion, which involved gene analysis showing varied inheritance patterns.
Retrospective analysis included 6 cases of distal and 7 cases of proximal deletions affecting genes like OTOA, EEF2K, and CDR2.
Caution is advised in interpreting prenatal genetic data as some deletions exhibit reduced penetrance, emphasizing the importance of follow-up.

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Retrospective analysis reveals prenatal findings and genetic data in fetuses with 16p12.2 microdeletion, highlighting clinical considerations.

Cai et al. (2025) studied this question.

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Retrospective analysis reveals prenatal findings and genetic data in fetuses with 16p12.2 microdeletion, highlighting clinical considerations.