This trial is active, not recruiting.

Condition pregnant women requiring amniocentesis
Treatment methylation index
Sponsor Assistance Publique - Hôpitaux de Paris
Start date May 2013
End date December 2015
Trial size 67 participants
Trial identifier NCT01842659, AOM 11003, CRC 2011


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.

United States No locations recruiting
Other countries No locations recruiting

Study Design

Endpoint classification efficacy study
Intervention model single group assignment
Masking open label
Primary purpose diagnostic
Pregnant women requiring amniocentesis
methylation index
To calculate the methylation index (MI) of imprinted regions.

Primary Outcomes

Methylation Index (MI) of the 11p15 region using DNA extracted
time frame: 27 weeks

Secondary Outcomes

MI using the placenta
time frame: 27 weeks

Eligibility Criteria

Female participants at least 18 years old.

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

Additional Information

Official title Prenatal Screening for Imprinting Anomalies Implicated in Beckwith Wiedemann and Silver Russell Syndromes
Principal investigator Irene Netchine, PU-PH
Description To evaluate the agreement between the methylation index of the 11p15 region obtained using DNA extracted from amniocytes and that extracted from cord blood leukocytes, by calculating the intraclass correlation coefficient (ICC). Ancillary study : This second part of the study aims to determine the standard of methylation index of the 11p15 region (inclusion of 100 additional patients). The use of amniotic liquid will allow to calculate : - the average of methylation index, - the value of the standard deviation - the inter-assay coefficient of variation for the test-used.
Trial information was received from ClinicalTrials.gov and was last updated in August 2016.
Information provided to ClinicalTrials.gov by Assistance Publique - Hôpitaux de Paris.