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Prenatal Screening for Imprinting Anomalies Implicated in Beckwith Wiedemann and Silver Russell Syndromes

NCT01842659 · Status: UNKNOWN · Phase: NA · Type: INTERVENTIONAL · Enrollment: 67

Last updated 2016-08-24

No results posted yet for this study

Summary

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.

Conditions

  • Pregnant Women Requiring Amniocentesis

Interventions

GENETIC

Methylation Index

To calculate the methylation index (MI) of imprinted regions.

Sponsors & Collaborators

  • Assistance Publique - Hôpitaux de Paris

    lead OTHER

Principal Investigators

  • Irene Netchine, PU-PH · Assistance Publique

Study Design

Allocation
NA
Purpose
DIAGNOSTIC
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Min Age
18 Years
Sex
FEMALE
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2013-05-31
Primary Completion
2015-12-31
Completion
2016-10-31

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT01842659 on ClinicalTrials.gov