Down Syndrome, Edward's Syndrome, Patau Syndrome
Conditions
Brief summary
The purpose of this study is to evaluate the performance of the IONA® test which is a non-invasive prenatal test (NIPT) for Down's syndrome and other chromosomal abnormalities in twin pregnancies, from a maternal blood sample.
Detailed description
350 low risk and 150 high risk women with twin pregnancies will be recruited to produce a large cohort evaluation the use of the IONA test in twin pregnancies for Downs, Edwards and Patau syndrome. Reserve samples will also be used to further develop the test for other chromosomal abnormalities.
Interventions
PROCEDUREBlood sample
20 ml blood sample taken from vein in arm
Sponsors
Premaitha Health
Study design
Allocation
NON_RANDOMIZED
Intervention model
PARALLEL
Primary purpose
SCREENING
Masking
NONE
Eligibility
Sex/Gender
FEMALE
Age
16 Years to No maximum
Healthy volunteers
Yes
Inclusion criteria
* Currently pregnant with twin foetuses at time of entry to study * Have had or are about to have a conventional screening test (combined/quad test, ultrasound scan or other NIPT) * If identified as high risk, intend to undergo prenatal invasive diagnosis and/or undergoing invasive prenatal therapy such as laser treatment for TTTS where a sample of amniotic fluid is taken for karyotyping.
Exclusion criteria
* Participant herself has down syndrome or other chromosomal abnormality
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Number of IONA test results which are concordant or discordant with Invasive test or Birth outcome. | 18 months | IONA test results will be compared to Karyotyping from birth outcome and invasive procedures. |
Countries
United Kingdom
Outcome results
None listed