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Clinical Trial Summary

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.


Clinical Trial Description

n/a


Study Design


Related Conditions & MeSH terms


NCT number NCT03239002
Study type Observational
Source University Hospital, Lille
Contact
Status Completed
Phase N/A
Start date July 2011
Completion date September 2017