Molecular confirmation of nine cases of Cornelia de Lange syndrome diagnosed prenatally
M. A. Dempsey, A. E. Knight Johnson, B. S. Swope, J. S. Moldenhauer, H. Sroka, K. Chong, D. Chitayat, L. Briere, H. Lyon, N. Palmer, S. Gopalani, J. R. Siebert, S. Lévesque, J. LeBlanc, D. Menzies, E. Haverfield and S. Das
Article first published online: 9 DEC 2013 | DOI: 10.1002/pd.4279
What's already known about this topic?
- The diagnosis of Cornelia de Lange syndrome can be suspected in the second and third trimesters; however, confirmation of the diagnosis is typically based on facial findings after birth, and molecular testing is also typically performed postnatally.
What does this study add?
- This study is the first to look at a series of prenatal cases with a suspected diagnosis of Cornelia de Lange syndrome and determine the frequency of NIPBL mutations.
- In our cohort, the mutation detection rate of NIPBL sequencing was higher than the published 60% detection rate for postnatally diagnosed cases. In particular, mutation detection rate is very high in cases with severe micrognathia and bilateral upper limb defects.