Antenatal Detection by Array CGH Genomic Rearrangements Unbalanced Front Uninsulated Thick Neck or a Combination of Two Signs of Ultrasound Calling Normal Karyotype

This is the first study with a real diagnostic and prognostic focus in prenatal. In addition to this innovative aspect, the identification of cryptic imbalances in fetuses with malformative syndrome would be an invaluable resource for the identification of new genes involved in development, as is already the case for postnatal studies.

This research aims to:

1. to test the feasibility of this protocol, ie the practical application of this new technology in the context of prenatal diagnosis,
2. demonstrate and evaluate the possible involvement of cryptic chromosomal abnormalities in fetuses with a thick neck associated with other malformations and recruited on the strict criteria mentioned above,
3. assist in the diagnosis of these fetuses and genetic information for their families,
4. identify new regions of the genome potentially involved in the occurrence of congenital malformations.