Dear colleague,
I met today in consultation your patient Mrs. Marie MADELAIEN, born on 18/08/1987, with her partner, for an etiological assessment following the evidence of short long bones during the current pregnancy.

Family history:
Pregnancy obtained through IVF, with sperm donation. Anonymous donor.
3rd pregnancy of Mrs. MADELAIEN. She has a boy, born in 2020 (sperm donation, another donor), who is in good health. Notably: 1 voluntary interruption of pregnancy.
Mrs. MADELAIEN is in good health. She is an engineer. She measures 1.69 m. She has 2 brothers, both of whom have children. She does not report any significant family history, particularly no disability or constitutional short stature.
We do not have information on the family history of the donor. It should be noted that a pre-conception panel was performed in Spain before the insemination.

History of the pregnancy:
Pregnancy obtained through IVF with sperm donation, in Spain. First trimester ultrasound and NIPT without particularities (performed in Spain). Second trimester ultrasound (in France) without particularities, particularly on the biometrics with an estimated fetal weight at the average. Evidence during the third trimester ultrasound of femurs and humerus <1st percentile, with an EFW at the 30th p and a cranial perimeter at the 90th p.
I see the couple at 32 weeks of gestation. I discuss with them the hypothesis of a constitutional bone disease given the break in the growth curves of the long bones. We mainly discussed the possible diagnosis of achondroplasia, given the association of short long bones and relative macrocephaly.
In this context, I propose the realization of an NIPT FGFR3 which will confirm or rule out the diagnosis of achondroplasia. We also schedule a bone scan to specify the bone morphology. I will see the couple again with the results of these examinations. If the diagnosis of achondroplasia were confirmed, we would quickly organize an appointment with a reference center for MOC to discuss prognosis, particularly with the arrival of new therapeutics.

In summary:
Suspicion of constitutional bone disease, particularly achondroplasia. NIPT FGFR3 and bone scan.
I remain at your disposal for any questions.
Fraternally.