Whole Exome Sequencing in Prenatal Diagnosis of Agenesis of the Corpus Callosum
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 31
- 试验地点
- 1
- 主要终点
- Technical success
研究概览
简要总结
Agenesis of the corpus callosum (ACC) is one of the most frequent cerebral malformations and is now diagnosed prenatally in most cases. Prenatal counseling is then challenging because of uncertain neurodevelopmental outcome, depending on the genetic cause of ACC. Our purpose is to evaluate the feasibility of sequencing known genes responsible for ACC by whole exome sequencing (WES) in trio (fetus and both parents) when ACC is diagnosed during the pregnancy, in order to provide complete and loyal information on the intellectual prognosis for the fetus.
详细描述
Agenesis of the corpus callosum (ACC) is one of the most frequent cerebral malformations. The neurodevelopmental outcome of patients with ACC is extremely variable, ranging from normal intelligence to severe intellectual disability (ID). When ACC is discovered during the prenatal period, prenatal counseling is challenging because of this uncertain neurodevelopmental outcome. Currently, only chromosomal analyses are performed in cases of prenatal diagnoses, which are expected to bring the diagnosis in only few cases. No molecular studies of genes implied in ACC with or without ID are performed. Then, the couples are in the difficult situation of continuing or interrupting the pregnancy without complete information about the aetiology of ACC.
All patients will have a consultation with an obstetrician and consultations with a paediatric neurologist and a geneticist. The geneticist will explain WES and its issues. Both parents will have to provide informed consent for the study.
研究设计
- 研究类型
- Observational
- 观察模型
- Family Based
- 时间视角
- Prospective
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Age ≥ 18 years old
- •ACC diagnosed prenatally during the 2nd trimester of pregnancy, confirmed by ultrasound by a referee
- •Fetal sample (amniotic fluid, 10 ml) et blood samples of both parents (2 tubes of 5 ml EDTA)
- •Covered by social security
- •Written consent obtain for routine and research genetic analysis
排除标准
- •Refusal to participate from one or both parents
- •Pregnancies obtained with gamete donation (trio sequencing not feasible)
- •If one parent is not available (trio sequencing not feasible)
- •Inability to understand the given information
- •One or both parents under juridical protection
结局指标
主要结局
Technical success
时间窗: 5th week post diagnosis
Rate of technical success
次要结局
- Genetic diagnosis(5th week post diagnosis)
- Technical failure(up to 4 months)
- Delay to genetic diagnosis Result(up to 4 months)
- Parents decision to interrupt pregnancy(up to 4 months)
- Parents decision to continue pregnancy(up to 4 months)