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

Status

UNKNOWN

Phases

Study type

Interventional

Source

ClinicalTrials.gov

Registry ID

NCT01842659

Acronym

DASIRUWIBE

Enrollment

Registered

2013-04-29

Start date

2013-05-31

Completion date

2016-10-31

Last updated

2016-08-24

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

Conditions

Pregnant Women Requiring Amniocentesis

Keywords

MI, amniocentesis, cord blood, placenta, Silver Russell Syndrome, Beckwith Wiedemann Syndrome

Brief 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.

Detailed 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.

Interventions

GENETICMethylation Index

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

Study design

Allocation

Intervention model

SINGLE_GROUP

Primary purpose

DIAGNOSTIC

Masking

NONE

Eligibility

Sex/Gender

FEMALE

Age

18 Years to No maximum

Healthy volunteers

Yes

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

Design outcomes

Primary

Measure	Time frame	Description
Methylation Index (MI) of the 11p15 region using DNA extracted	27 weeks	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).

Secondary

Measure	Time frame	Description
MI using the placenta	27 weeks	To calculate the MI using the placentas of the same individuals and to evaluate its agreement with the MIs obtained above.

Countries

France

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Feb 4, 2026