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Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Published on: August 25, 2019

First-trimester combined screening: experience with an instant results approach.

Mary E Norton¹, Linda M Hopkins, Sherri Pena

¹Division of Perinatal Medicine and Genetics, Department of Obstetrics, Gynecology and Reproductive Sciences, University of California, San Francisco, School of Medicine, San Francisco, CA, USA.

American Journal of Obstetrics and Gynecology

|June 6, 2007

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Instant results for first-trimester combined screening were achieved in 60.6% of cases. Patient self-collection of blood samples significantly improved the rate of immediate results, potentially increasing diagnostic procedure use.

Area of Science:

Maternal-fetal medicine
Prenatal diagnostics

Background:

First-trimester combined screening is crucial for assessing fetal aneuploidy risk.
Timely results are essential for patient management and decision-making.

Purpose of the Study:

To evaluate an instant results protocol for first-trimester combined screening.
To assess the feasibility of patient self-collection and mail-in of blood samples.

Main Methods:

Retrospective analysis of 2,310 women undergoing first-trimester combined screening.
Assessed immediate in-office results post-nuchal translucency ultrasound.
Analyzed impact of patient self-collection and demographic factors.

Main Results:

60.6% of women received instant screening results.

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Patient self-collection at home increased instant results to 80%.

Maternal age 35+ predicted instant results; other factors did not.

Conclusions:

An instant results protocol is feasible for first-trimester combined screening.
Patient self-collection enhances immediate result delivery.
The protocol may influence the uptake of diagnostic procedures like chorionic villus sampling.