Topic: Genetics Research and Congenital Disorders, Reproductive Health and Childb
Conditions
Interventions
Diagnosis & management of care, comparision of karyotyping test with Array CGH
Sponsors
Newcastle upon Tyne Hospitals NHS Foundation Trust (UK)
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: 1. Fetuses (singleton or dichorionic twin) undergoing conventional karyotyping by amniocentesis or Chorionic villus sampling (CVS) for clinical indications with: 1.1. one or more structural anomalies identified on an ultrasound scan* or 1.2. an isolated nuchal translucency (NT) =3.5 mm identified at the 11+2 to 14+1 wk ultrasound screening scan. * Includes fetal growth restriction (defined as abdominal circumference >2 standard deviations below the mean for gestational age) 2. Only those fetuses with a normal qfPCR result, fetuses with a sex chromosome aneuploidy that is unlikely to explain the ultrasound anomaly e.g. XXX, XXY and XYY will undergo array CGH. This group has the highest risk of unbalanced chromosomal rearrangements [25] and recent array CGH studies suggest that they have the highest risk of pathogenic CNVs. Cases will be recruited from selected Fetal Medicine Units (FMUs) in England and Wales. Target Gender: Male & Female; Upper Age Limit 65 years ; Lower Age Limit 16 years
Exclusion criteria
Exclusion criteria: 1. Single or multiple ultrasound variants (or markers). In this context fetal cerebral ventriculomegaly (atrium = 10 mm) is classed as a structural anomaly not a normal variant. 2. Structural anomaly identified outside the time frame specified in the inclusion criteria 3. Participant declines to take part in the study 4. Participant is under the age of 16 years 5. Participant is unable to read English and understand the study information leaflet 6. Those fetuses with Triploidy, the common aneuploidies (Trisomy 13, 18, 21), or Monosomy X will be excluded from the study
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Detection of pathogenic Copy number variants (CNVs); Timepoint(s): detection of pathogenic CNVs and chromosomal imbalances by array CGH and/or karyotyping | — |
Secondary
| Measure | Time frame |
|---|---|
| Not provided at time of registration | — |
Countries
United Kingdom
Outcome results
None listed