Abnormality of the Neck Clinical Trial
— CGH ArrayOfficial title:
Antenatal Detection by Array CGH Genomic Rearrangements Unbalanced Front Uninsulated Thick Neck or a Combination of Two Signs of Ultrasound Calling Normal Karyotype
| Verified date | January 2018 |
| Source | University Hospital, Lille |
| Contact | n/a |
| Is FDA regulated | No |
| Health authority | |
| Study type | Observational |
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.
| Status | Completed |
| Enrollment | 200 |
| Est. completion date | September 2017 |
| Est. primary completion date | September 2017 |
| Accepts healthy volunteers | No |
| Gender | Female |
| Age group | 18 Years to 45 Years |
| Eligibility |
Inclusion Criteria: - a karyotype performed from a trophoblast biopsy or an amniotic fluid puncture is normal or apparently balanced. - The fetuses included in the study should have one of the following two criteria: - 1) Thick bone (greater than 99th percentile, between week 11 and week 13 of amenorrhoea plus 6 days, correlated to a cranio-caudal length measured between 45 and 84 mm) detected in the first trimester of pregnancy associated with One or more echographic sign (s). - 2) At least two ultrasound call signs involving the following organs (heart, kidney, brain, limbs, digestive tract, face) or intrauterine growth retardation (less than 3rd percentile) associated with one of these Signs of appeal. Exclusion Criteria: - The parturientes in emergency situation, - Benefiting from a legal protection (guardianship / curatorship) |
| Country | Name | City | State |
|---|---|---|---|
| France | Hôpital Jeanne de Flandre - CHRU de Lille | Lille |
| Lead Sponsor | Collaborator |
|---|---|
| University Hospital, Lille | Ministry of Health, France |
France,
| Type | Measure | Description | Time frame | Safety issue |
|---|---|---|---|---|
| Primary | Number of patient with Ultrasound call signs (thick neck and / or any other organ concerned) | During the first trimester of pregnancy | ||
| Secondary | CGH-array analysis | CGH-array result: normal, deletion or duplication, de novo or inherited, size, type and number of genes involved | During the first trimester of pregnancy |