Intrauterine phenotypic features associated with 16p11.2 recurrent microdeletions.

For: All,

This study shows that during pregnancy, some babies with a 16p11.2 deletion may have differences seen on prenatal ultrasounds—most often involving the spine (vertebrae) and sometimes the heart—and families can use this information to guide early genetic testing, specialist follow‑up, and care planning before and after birth.