Prospective study into submicroscopic chromosomal abnormalities in foetuses with structural malformations on ultrasound

Prospective study into submicroscopic chromosomal abnormalities in foetuses with structural malformations on ultrasound - Submicroscopic chromosomal abnormalities and fetal malformations

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON30792

Enrollment

130

Registered

2007-07-16

Start date

2007-04-01

Completion date

Unknown

Last updated

2024-05-13

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

Conditions

submicroscopic chromosomal abnormalities of the subtelomeres

Interventions

None listed

Eligibility

Age

18 Years to 99 Years

Inclusion criteria

Inclusion criteria: Only if amniocentesis is already planned because of abnormal ultrasonographic findings of the fetus, future parents will be asked for this study. The MLPA-test will only be performed if the karyotyping is normal.

Exclusion criteria

Exclusion criteria: Abnormal fetal karyotype that can explain the ultrasonographic anomalies. Absence of a signed informed consent by both parents.

Design outcomes

Primary

Measure	Time frame
The overall percentage of submicroscopic chromosomal abnormalities( microdeletions or -duplications) in fetuses with structural malformations and a normal routine karyotyping	—

Secondary

Measure	Time frame
1 Percentage of relevant submicroscopic chromosomal abnormalities with known clinical implications versus the percentage of unknown abnormalities with unclear clinical implications in fetuses with structural malformations and normal routine karyotyping? 2. Can we ascertain an association between the fetal malformation and the detected submicroscopic chromosomal abnormality?	—

Countries

Netherlands

Outcome results