Paternal Age and Fetal Aneuploidy

NCT05981521 | Completed

• 1 other identifier: 3321
• Study Type: observational
• Target: 7,141
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Trisomy 21

Outcome Measures

Primary Outcomes (1)

• 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

Interventions

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

Eligibility Criteria

• Age: 18 Years+
• Gender Eligibility Details: We are evaluating genetic screening test on pregnant women.
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

Pregnant women who underwent Optimo trisomy 21 screening at clinique ovo between January 2014 to June 2023

You may qualify if:

• Pregnant women aged 18 years or older (at the time of trisomy 18 and 21 screening) and who were able to complete the questionnaire in either French or English
• Pregnant women who completed the entire trisomy 21 screening process at clinique ovo were included

You may not qualify if:

• Patients who did not indicate the male partner/donor's age were excluded
• Patients who did not complete or sign the clinical information form

Sponsors & Collaborators

• Clinique Ovo: lead

Study Sites (1)

Clinique Ovo

Montreal, Quebec, H4P 2S4, Canada

Location

MeSH Terms

Conditions

Down Syndrome

Condition Hierarchy (Ancestors)

Intellectual Disability; Neurobehavioral Manifestations; Neurologic Manifestations; Nervous System Diseases; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Chromosome Disorders; Genetic Diseases, Inborn

Study Officials

• Jacques I Kadoch, MD

  clinique ovo R&D department

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: RETROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: July 31, 2023
• First Posted: August 8, 2023
• Study Start: July 31, 2023
• Primary Completion: December 31, 2024
• Study Completion: June 13, 2025
• Last Updated: December 9, 2025

Record last verified: 2025-12

Data Sharing

• IPD Sharing: Will not share

Locations

CA (1)