Follow up of Increased Nuchal Translucency :Study of 2010 to 2018 of Limoges Hospital
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- 入组人数
- 392
- 试验地点
- 1
- 主要终点
- Number of chromosomal abnormalities on fetuses with increased nuchal translucency
研究概览
简要总结
The ultrasound of the first trimester allows to determinate the pregnancy beginning, the type of pregnancy and also to detect increased nuchal translucency (NT). Fetuses with common chromosomal abnormalities (trisomies 21, 18 and 13 and monosomy X) and structural abnormalities (particularly cardiac defects) and single-gene disorders frequently show increased NT. The purpose of this study is to evaluate in the population of Limousin, the type and frequency of these abnormalities.
详细描述
Increased NT superior than 95th percentile (Nicolaides curves) during the ultrasound of the first trimester, are associated to common chromosomal abnormalities. It's therefore necessary to make amniocentesis and to analyze karyotyping and Genomic microarrays, also known as chromosomal microarrays (CMA). In euploid foetus, increased NT is also associated with structural defects or genetic syndromes. Additionally, the overall long-term growth of euploid children with increased NT is not much known. The majority (98%) of euploid children with a normal second trimester ultrasound is apparently healthy in the short run. The investigator's objective is to evaluate in a retrospective way, different events (structural defects, chromosomal or genetic abnormalities) during these pregnancies. In a prospective way, the neurodevelopmental disorders in euploid children will be investigated.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Other
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- Female
- 接受健康志愿者
- 否
入选标准
- •Increased nucal translucency (NT) > 95e percentile on the pregnancy's first trimester
- •Monofoetal pregnancy
- •Twin pregnancy (biamniotic bichorial)
- •Adult patients
排除标准
- •Increased NT < 95e percentile on the pregnancy's first trimester
- •Increased NT > 95e percentile on the pregnancy's second trimester
- •Twin pregnancy (biamniotic monochorial), triple or more gestation
- •Underage patients
结局指标
主要结局
Number of chromosomal abnormalities on fetuses with increased nuchal translucency
时间窗: 6 months
Characterization of fetuses with increased nuchal translucency by Identification of chromosomal abnormalities, structural defects and genetic syndromes on fetuses with increased nuchal translucency
Number structural defects on fetuses with increased nuchal translucency
时间窗: 6 months
Characterization of fetuses with increased nuchal translucency by Identification of chromosomal abnormalities, structural defects and genetic syndromes on fetuses with increased nuchal translucency
Number of genetic syndromes on fetuses with increased nuchal translucency
时间窗: 6 months
Characterization of fetuses with increased nuchal translucency by Identification of chromosomal abnormalities, structural defects and genetic syndromes on fetuses with increased nuchal translucency
次要结局
- maternofetal infection(1 year)
- Rate of each Pregnancy outcomes(1 year)
- Determination of a neck thickness threshold at risk of psychomotor developmental delay(1 year)
- Study of the psychomotor development of nuchal translucency with normal genetic analysis(1 year)
- structural defects(1 year)
- postnatal structural defects(1 year)
- postnatal chromosomal abnormalities(1 year)
- Determination of a neck thickness threshold at risk of malformations and requiring the persistence of monthly ultrasound monitoring(1 year)
- postnatal genetic syndromes(1 year)