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临床试验/NL-OMON45858
NL-OMON45858招募中不适用

Research on the validation and acceptance of Non-Invasive Prenatal Diagnosis (NIPD) as a safe and reliable alternative for invasive prenatal testing for monogenic disorders. - NIPD for monogenic diseases

Hubrecht Instituut, KNAW0 个研究点目标入组 120 人开始时间: 待定最近更新:
适应症

试验速览

阶段
不适用
状态
招募中
发起方
入组人数
120

研究概览

简要总结

暂无简介。

研究设计

研究类型
Observational

入排标准

年龄范围
18 至 99(—)

入选标准

  • * Pregnant couples (or couples planning a pregnancy) at increased risk (25%) of carrying a child with one of the following severe monogenic recessive diseases (thalassemia, sickle cell anemia, cystic fibrosis, hemophilia, Spinal Muscular Dystrophy, Duchenne or one of the serious recessive diseases present in a genetically isolated population) AND opting for PND (or postnatal cord blood).
  • * Pregnant couples (or couples planning a pregnancy) from a genetically isolated population with one partner carrier of a severe recessive disease (+/-couples).

排除标准

  • * Multiple gestation/vanished twin/empty sac(s) detected at any time before blood sampling during pregnancy
  • * Maternal age <18 years
  • * Insufficient knowledge of Dutch or English language or impossibility to understand the study purpose.
  • * Women carrier of an X-linked recessive disorder and pregnant of a girl.
  • * Gestational age > 14 weeks

研究者

发起方
Hubrecht Instituut, KNAW

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