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Achondroplasia - fetal diagnosis

Case contributed by Dr Alexandra Stanislavsky

Presentation

Review of fetal growth in third trimester.

Patient Data

Age: 25 years
Gender: Female
Ultrasound

All fetal long bones have shown reduced interval growth since the prior scan performed in the second trimester (see graph trends), now between < 1st to the 10th centile with both femora and humeri most prominently affected.  By comparison the head and AC measurements continue to progress, with overall EFW just within the normal range at the 12th centile.

Case Discussion

This was a fetus of a mother with achondroplasia, who was known to be FGFR3 heterozygote for achondroplasia following amniocentesis - a mutation seen in about 70% of cases1, with 100% penetrance.  

Note that growth was symmetric and normal at the 20 week scan, with asymmetrically short long bones developing in later pregnancy, predominantly affecting the proximal long ones (femur and humerus) as expected with rhizomelic dwarfism.

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