ICCBH2019 Poster Presentations (1) (226 abstracts)
Pre and post-natal achondroplasia, retrospective series of 64 consecutives cases with analyze of the diagnostic methods and timing issues
Genevieve Baujat 1 , Roxana Borghese 2 , Pascale Sonigo 3 , Séverine Bacrot 2 , Joana Bengoa 2 , Caroline Michot 1 , Anne-Elodie Millischer 3 , Sophie Rondeau 2 , Beatrice Childs 1 , Tania Attié-Bittach 4 , Bettina Bessieres 4 , Laurent Salomon 5 , Yves Ville 5 , Jean-Paul Bonnefont 2 , Julie Steffann 2 & Valerie Cormier-Daire 1
1Department of Medical Genetics, Centre of Reference for Skeletal Dysplasia, Necker-Enfants Malades Hospital (AP-HP), Institut IMAGINE, University Paris Descartes, Paris, France; 2Department of Molecular Genetics, Necker-Enfants Malades Hospital (AP-HP), University Paris Descartes, Paris, France; 3Department of Radiology, Necker-Enfants Malades Hospital (AP-HP), University Paris Descartes, Paris, France; 4Department of Foetopathology, Necker-Enfants Malades Hospital (AP-HP), University Paris Descartes, Paris, France; 5Department of Obstetrics, Necker-Enfants Malades Hospital (AP-HP), University Paris Descartes, Paris, France.
The last years, diagnosis of achondroplasia benefited of the recent advances in prenatal imaging (including 3T-CD scan), and in invasive and non-invasive molecular screening.
Objectives: To analyse stage/age, diagnosis procedures and outcome on a series of 64 consecutive cases of achondroplasia, in the French Centre of Reference for skeletal dysplasia, between 2008 and 2016.
Methods: Confirmed achondroplasia were included in this single institution study. Stage of pregnancy/age at diagnosis, analyse of the prevalence of achondroplasia features by imaging (ultrasound, 3D-CT scan), method of molecular confirmation, pregnancy outcome were retrospectively determined.
Results: Sixty-four cases of achondroplasia were included. The diagnosis was made during the pregnancy in 43 cases (67%), in a mean stage of 30 weeks. For the remaining 21 cases (33%), the diagnosis was performed at birth in all cases but one, diagnosed at 2 months. Eight foetuses had at least one parents affected: 4 were diagnosed after early chorionic villus sampling (CVS, 12 weeks), leading to pregnancy termination (PT) and 4 diagnosed after 26 weeks, by ultrasound examination, with uncomplicated birth. In the de novo prenatal 35 cases, ultrasound in the second trimester was normal in 80% of cases. The first symptoms, noticed between 24 and 35 weeks, included femora length reduction (100%), macrocephaly (83%), and hydramnios (17%). The diagnosis was confirmed by the 3D-CT scan in all 17 cases when performed (52%), and/or by molecular screening after amniocentesis (43%) for the common mutation (G380R). Only 1 non-invasive molecular screening was performed in this retrospective series. The prenatal diagnosis led to PT in 12 cases (34%), in a mean stage of 32 weeks. 66% of the foetuses diagnosed in prenatal went into the birth. The comparison between the sub-groups « PT » and « born » showed only a slight but non-significant difference between the stage at diagnosis: 31 weeks versus 29 weeks.
Conclusion: The systematic screening of the second term was normal in 80%. One third of the diagnosis led to pregnancy termination. These results confirm the late diagnosis of de novo achondroplasia during pregnancy, leading to major psychological and ethical issues for the parents.
Disclosure: The authors declared no competing interests.
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