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.

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

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON45858

Enrollment

120

Registered

2018-09-19

Start date

2019-04-23

Completion date

Unknown

Last updated

2024-08-12

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

cystic fibrosis Duchenne or one of the serious recessive diseases present in a genetically isolated population hemophilia sickle cell anemia Spinal Muscular Dystrophy thalassemia

Interventions

None listed

Eligibility

Age

18 Years to 99 Years

Inclusion criteria

Inclusion criteria: * 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).

Exclusion criteria

Exclusion criteria: * Multiple gestation/vanished twin/empty sac(s) detected at any time before blood sampling during pregnancy * Maternal age 14 weeks

Design outcomes

Primary

Measure	Time frame
Main study parameters/endpoints: Percentage of concordant results between MG-NIPD performed early in pregnancy and PND (or postnatal cord blood) carried out at a later stage, percentage of tests yielding inheritance predictions with >99% confidence (Part I), and patients* and professionals* perspectives on NIPD (Part II). Ad. Part I: The statistics behind MG-NIPD were established with Dr. Gerard te Meerman (UMCG) and have been described in detail in our publication (Vermeulen et al., 2017). In this study, MG-NIPD predictions for 100-120 different risk pregnancies will be compared to the PND (or cord blood) measured genotype of the fetus. We will report how often MG-NIPD correctly predicted the actual genotype of the fetus, how often the test was inconclusive and how often the wrong prediction was made (as mentioned, we expect this to not happen). We will also report the confidence levels of our predictions (which we aim to always be >99%). Based on these performance parameters, the to be determined exact costs of the test and the turn-around time of results (MG-NIPD can be completed within one week, possibly faster), clinics should individually decide whether or not they wish to offer MG-NIPD to risk couples carrying a monogenic disease. Ad. Part II: We will analyse the interview data according to principles of constant comparison. Along this path of analysis, initial open coding (initial codes given to fragments of text) will be replaced by axial coding (description and integration of codes). In the final phase of selective coding, core concepts will be determined and the relationships between important categories will be tested and interpreted. For the survey data descriptive analyses will be used. For any comparison, chi-squared test will be used for categorical data and t-tests for continuous data.	—

Measure

Time frame

Main study parameters/endpoints: Percentage of concordant results between MG-NIPD performed early in pregnancy and PND (or postnatal cord blood) carried out at a later stage, percentage of tests yielding inheritance predictions with >99% confidence (Part I), and patients* and professionals* perspectives on NIPD (Part II). Ad. Part I: The statistics behind MG-NIPD were established with Dr. Gerard te Meerman (UMCG) and have been described in detail in our publication (Vermeulen et al., 2017). In this study, MG-NIPD predictions for 100-120 different risk pregnancies will be compared to the PND (or cord blood) measured genotype of the fetus. We will report how often MG-NIPD correctly predicted the actual genotype of the fetus, how often the test was inconclusive and how often the wrong prediction was made (as mentioned, we expect this to not happen). We will also report the confidence levels of our predictions (which we aim to always be >99%). Based on these performance parameters, the to be determined exact costs of the test and the turn-around time of results (MG-NIPD can be completed within one week, possibly faster), clinics should individually decide whether or not they wish to offer MG-NIPD to risk couples carrying a monogenic disease. Ad. Part II: We will analyse the interview data according to principles of constant comparison. Along this path of analysis, initial *open coding* (initial codes given to fragments of text) will be replaced by *axial coding* (description and integration of codes). In the final phase of *selective coding*, core concepts will be determined and the relationships between important categories will be tested and interpreted. For the survey data descriptive analyses will be used. For any comparison, chi-squared test will be used for categorical data and t-tests for continuous data.

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Countries

Netherlands

Outcome results