Gastroschisis: identification of hereditary and nonhereditary risk factors

Gastroschisis: identification of hereditary and nonhereditary risk factors - Gastroschisis: identification of hereditary and nonhereditary risk factors

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON37924

Enrollment

Registered

2012-02-07

Start date

2012-05-07

Completion date

Unknown

Last updated

2024-05-06

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

Conditions

gastroschisis OR belly cleft

Interventions

None listed

Eligibility

Age

2 Years to 99 Years

Inclusion criteria

Inclusion criteria: -Patients born with gastroschisis AND -born between January 1982 and December 2008 at University Medical Center Utrecht AND -approval to be informed of the array-CGH results if medical treatment or follow up is necessary

Exclusion criteria

Exclusion criteria: none

Design outcomes

Primary

Measure	Time frame
1. Prevalence of structural-, dysmorphological and neurodevelopmental abnormalities in gastroschisis patients, compared to the prevalence of these variables in healthy controls, derived from literature. 2. To investigate whether specific recurrent CNVs are overrepresented among patients with gastroschisis and point towards specific molecular pathways. 3. To gain more insight in the potential pathogenic contribution of the identified CNVs identified by analysing the genes in the copy number abnormalities in patients with gastroschisis. Size, location and gene-content of deletions and/or duplications in gastroschisis patients and their parents will be compared to patients with other anomalies and healthy controls derived from the database of the medical genetics and publicly available databases. The clinical characteristics will be compared between patients with and patients without CNVs to detect whether there are significant differences.	—

Measure

Time frame

1. Prevalence of structural-, dysmorphological and neurodevelopmental abnormalities in gastroschisis patients, compared to the prevalence of these variables in healthy controls, derived from literature. 2. To investigate whether specific recurrent CNVs are overrepresented among patients with gastroschisis and point towards specific molecular pathways. 3. To gain more insight in the potential pathogenic contribution of the identified CNVs identified by analysing the genes in the copy number abnormalities in patients with gastroschisis. Size, location and gene-content of deletions and/or duplications in gastroschisis patients and their parents will be compared to patients with other anomalies and healthy controls derived from the database of the medical genetics and publicly available databases. The clinical characteristics will be compared between patients with and patients without CNVs to detect whether there are significant differences.

—

Secondary

Measure	Time frame
None	—

Countries

Netherlands

Outcome results