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临床试验/NCT03239002
NCT03239002已完成不适用

Antenatal Detection by Array CGH Genomic Rearrangements Unbalanced Front Uninsulated Thick Neck or a Combination of Two Signs of Ultrasound Calling Normal Karyotype

University Hospital, Lille1 个研究点 分布在 1 个国家目标入组 200 人开始时间: 2011年7月最近更新:
适应症

试验速览

阶段
不适用
状态
已完成
发起方
入组人数
200
试验地点
1
主要终点
Number of patient with Ultrasound call signs (thick neck and / or any other organ concerned)

研究概览

简要总结

This is the first study with a real diagnostic and prognostic focus in prenatal. In addition to this innovative aspect, the identification of cryptic imbalances in fetuses with malformative syndrome would be an invaluable resource for the identification of new genes involved in development, as is already the case for postnatal studies.

This research aims to:

  1. to test the feasibility of this protocol, ie the practical application of this new technology in the context of prenatal diagnosis,
  2. demonstrate and evaluate the possible involvement of cryptic chromosomal abnormalities in fetuses with a thick neck associated with other malformations and recruited on the strict criteria mentioned above,
  3. assist in the diagnosis of these fetuses and genetic information for their families,
  4. identify new regions of the genome potentially involved in the occurrence of congenital malformations.

研究设计

研究类型
Observational
观察模型
Cohort
时间视角
Prospective

入排标准

年龄范围
18 Years 至 45 Years(Adult)
性别
Female
接受健康志愿者

入选标准

  • a karyotype performed from a trophoblast biopsy or an amniotic fluid puncture is normal or apparently balanced.
  • The fetuses included in the study should have one of the following two criteria:
  • Thick bone (greater than 99th percentile, between week 11 and week 13 of amenorrhoea plus 6 days, correlated to a cranio-caudal length measured between 45 and 84 mm) detected in the first trimester of pregnancy associated with One or more echographic sign (s).
  • At least two ultrasound call signs involving the following organs (heart, kidney, brain, limbs, digestive tract, face) or intrauterine growth retardation (less than 3rd percentile) associated with one of these Signs of appeal.

排除标准

  • The parturientes in emergency situation,
  • Benefiting from a legal protection (guardianship / curatorship)

结局指标

主要结局

Number of patient with Ultrasound call signs (thick neck and / or any other organ concerned)

时间窗: During the first trimester of pregnancy

次要结局

  • CGH-array analysis(During the first trimester of pregnancy)

研究者

发起方
University Hospital, Lille
申办方类型
Other
责任方
Sponsor

研究点 (1)

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