Prenatal Screening for Imprinting Anomalies Implicated in Beckwith Wiedemann and Silver Russell Syndromes
试验速览
- 阶段
- 不适用
- 入组人数
- 67
- 试验地点
- 2
- 主要终点
- Methylation Index (MI) of the 11p15 region using DNA extracted
研究概览
简要总结
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.
详细描述
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.
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Diagnostic
- 盲法
- None
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- Female
- 接受健康志愿者
- 是
入选标准
- •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)
排除标准
- •Warning signs on ultrasound that require a medical termination of pregnancy to be discussed even before amniocentesis is performed
结局指标
主要结局
Methylation Index (MI) of the 11p15 region using DNA extracted
时间窗: 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).
次要结局
- MI using the placenta(27 weeks)