Pregnant Women Requiring Amniocentesis Clinical Trial
— DASIRUWIBEOfficial title:
Prenatal Screening for Imprinting Anomalies Implicated in Beckwith Wiedemann and Silver Russell Syndromes
Losses of imprinting are involved in various syndromes. Those occurring in the 11p15 region
lead to Beckwith-Wiedemann and Silver-Russell Syndromes. These losses of imprinting follow a
mosaic pattern, rendering their detection difficult, especially given the scarcity of
available DNA in amniotic fluid. Thus, in spite of growing demand, prenatal diagnosis (PND)
for imprinting abnormalities of the 11p15 region is not available.
The recent development of a quantitative PCR method that permits the methylation index (MI)
of imprinted regions to be calculated renders PND technically possible. Nevertheless,
because of the mosaic nature of these anomalies, it is essential to verify that the
methylation pattern of the 11p15 region obtained from the amniotic fluid matches that
obtained from the blood.
| Status | Active, not recruiting |
| Enrollment | 67 |
| Est. completion date | October 2016 |
| Est. primary completion date | December 2015 |
| Accepts healthy volunteers | Accepts Healthy Volunteers |
| Gender | Female |
| Age group | 18 Years and older |
| Eligibility |
Inclusion Criteria: - Pregnant women, 18 years of age or older - Requiring amniotic fluid sampling in the context of pregnancy care after 15 weeks of amenorrhea - Having provided written informed consent - Followed at Trousseau Hospital or Clinique des Bluets during their pregnancy - Covered by or beneficiary of a state health insurance program (except for medical aid programs) Exclusion Criteria: - Warning signs on ultrasound that require a medical termination of pregnancy to be discussed even before amniocentesis is performed |
Endpoint Classification: Efficacy Study, Intervention Model: Single Group Assignment, Masking: Open Label, Primary Purpose: Diagnostic
| Country | Name | City | State |
|---|---|---|---|
| France | Explorations fonctionnelles endocriniennes | Paris |
| Lead Sponsor | Collaborator |
|---|---|
| Assistance Publique - Hôpitaux de Paris |
France,
| Type | Measure | Description | Time frame | Safety issue |
|---|---|---|---|---|
| Primary | Methylation Index (MI) of the 11p15 region using DNA extracted | To evaluate the agreement between the MI of the 11p15 region obtained using DNA extracted from amniocytes and that extracted from cord blood leukocytes, by calculating the intraclass correlation coefficient (ICC). | 27 weeks | No |
| Secondary | MI using the placenta | To calculate the MI using the placentas of the same individuals and to evaluate its agreement with the MIs obtained above. | 27 weeks | No |