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.
- Conditions
- cystic fibrosisDuchenne or one of the serious recessive diseases present in a genetically isolated populationhemophiliasickle cell anemiaSpinal Muscular Dystrophythalassemia10027664
- Registration Number
- NL-OMON45858
- Lead Sponsor
- Hubrecht Instituut, KNAW
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Recruiting
- Sex
- Not specified
- Target Recruitment
- 120
* 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).
OR
* Pregnant couples (or couples planning a pregnancy) from a genetically isolated population with one partner carrier of a severe recessive disease (+/-couples).
* 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
Study & Design
- Study Type
- Observational invasive
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method
- Secondary Outcome Measures
Name Time Method