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Trisomy 21, commonly known as down syndrome, is the most common chromosomal abnormality in humans. Advanced maternal age (AMA) is a well-recognized risk factor for trisomy 21, with the risk increasing significantly beyond the age of 35. Research on the effects of paternal age on the prenatal risk of trisomy 21 is lacking, with inconsistent findings in the literature.
The Harmony® prenatal test is an Non-Invasive Prenatal Testing (NIPT) that screens maternal blood for chromosomal abnormalities in the Cell-Free Fetal DNA (cfDNA). The harmony® prenatal test can detect conditions such as trisomy 13, 18, and 21, as well as sex chromosome abnormalities.
The Optimo test is a prenatal screening test that screens for trisomies 13, 18 and 21 in the developing fetus using extended biochemical screening in maternal. The Optimo test has shown high sensitivity and specificity in detecting trisomy 21.
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| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Optimo prenatal screening test | Diagnostic Test | Prenatal screening test done between weeks 11 and 13 of pregnancy to detect conditions such as trisomy 13, 18 and 21 |
| Measure | Description | Time Frame |
|---|---|---|
| Trisomy 21 screening results | On the day of the Optimo screening test, a questionnaire concerning clinical data (maternal and paternal age, ethnicity, weight, smoking status, pregnancy history) is completed. Blood test and nuchal transparency are done on that day. Results from serum analysis and nuchal transparency are combined to assess the risk of trisomy 21. Association between paternal age and trisomy 21 screening results will be assessed afterwards | 3 to 5 days |
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Inclusion Criteria:
Exclusion Criteria:
We are evaluating genetic screening test on pregnant women.
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Pregnant women who underwent Optimo trisomy 21 screening at clinique ovo between January 2014 to June 2023
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| Name | Affiliation | Role |
|---|---|---|
| Jacques I Kadoch, MD | clinique ovo R&D department | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Clinique Ovo | Montreal | Quebec | H4P 2S4 | Canada |
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| ID | Term |
|---|---|
| D004314 | Down Syndrome |
| ID | Term |
|---|---|
| D008607 | Intellectual Disability |
| D019954 | Neurobehavioral Manifestations |
| D009461 | Neurologic Manifestations |
| D009422 | Nervous System Diseases |
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| D000015 | Abnormalities, Multiple |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D025063 | Chromosome Disorders |
| D030342 | Genetic Diseases, Inborn |