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Updated: May 21, 2026
Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
Published on: August 25, 2019
Standardized Procedural Practices of the Ontario Prenatal Screening Program for aneuploidies and open neural tube
Nathalie Lepage1, Ayeshah Chaudhry, Danijela Konforte
1Department of Pathology and Laboratory Medicine, University of Ottawa and Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada. nlepage@cheo.on.ca
Background/Objectives:
The Ontario Prenatal Screening Program (OPSP) follows internationally recognized standardized procedures for laboratories and genetics clinics. However, it has been found that some procedures are subject to interpretation, so the current procedures are designed to facilitate a unified approach in the interpretation of literature recommendations. In Ontario, the OPSP offers multiple screening modalities with integrated prenatal screening (including both first and second trimester markers) being the most commonly chosen option. Other screening modalities include first trimester screening, second trimester quad screening, serum integrated screening, and NT-Quad.
Methods:
The standardization was based on a literature review and on current practices in Ontario.
Results/Discussion:
The main finding of the review was a paucity of published data relating to the procedures and the decision-making processes involved in prenatal screening. The purpose of this publication is to provide the most up-to-date and pertinent information for clinical laboratory professionals involved with prenatal screening for Down syndrome, trisomy 18 and open neural tube defects.
