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

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT03239002

Acronym

CGH Array

Enrollment

200

Registered

2017-08-03

Start date

2011-07-31

Completion date

2017-09-30

Last updated

2018-01-30

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Abnormality of the Neck, Fetus; Abnormal, Affecting Management of Pregnancy

Brief 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.

Interventions

None listed

Study design

Observational model

COHORT

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

FEMALE

Age

18 Years to 45 Years

Healthy volunteers

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)

Design outcomes

Primary

Measure	Time frame
Number of patient with Ultrasound call signs (thick neck and / or any other organ concerned)	During the first trimester of pregnancy

Secondary

Measure	Time frame	Description
CGH-array analysis	During the first trimester of pregnancy	CGH-array result: normal, deletion or duplication, de novo or inherited, size, type and number of genes involved

Countries

France

Outcome results