If the deficiency begins prenatally, the baby will still be of normal size and weight at birth but will then experience slowed growth.
There is no known way to prevent Patau syndrome though it can be diagnosed prenatally via amniocentesis.
When OI occurs as a new dominant mutation and is found inadvertently on ultrasound, it may be difficult to confirm the diagnosis until after delivery since other genetic conditions can cause bowing and/or fractures prenatally.
Type II Chiari malformation may be diagnosed prenatally by ultrasound or shortly after birth during medical evaluation of the accompanying spina bifida.
If hypogonadism occurs prenatally (even if incomplete), sexual ambiguity may result.
