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Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

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Published on: August 17, 2022

Expanded conventional first trimester screening.

Jonathan B Carmichael¹, Hsiao-Pin Liu¹, David Janik¹

¹Eurofins NTD, LLC, Melville, NY, USA.

Prenatal Diagnosis

|June 15, 2017

Summary

This summary is machine-generated.

This study shows a five-marker serum screening plus ultrasound protocol effectively detects trisomy 21 (T21), trisomy 18 (T18), and trisomy 13 (T13) with high detection rates and low false positive rates.

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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

Area of Science:

Maternal-fetal medicine
Prenatal diagnostics
Biochemical screening

Background:

Conventional prenatal screening for chromosomal abnormalities like trisomy 21 (T21), trisomy 18 (T18), and trisomy 13 (T13) often involves ultrasound and a limited number of serum markers.
Optimizing screening protocols is crucial for early detection and improved pregnancy outcomes.

Purpose of the Study:

To evaluate the performance of a comprehensive screening protocol utilizing five serum markers combined with ultrasound for the detection of T21, T18, and T13.
To assess the detection rates (DR) and false positive rates (FPR) of this expanded screening approach.

Main Methods:

Analyzed serum samples from 331 unaffected pregnancies, 34 T21, 19 T18, and 8 T13 cases.
Measured levels of free Beta human chorionic gonadotropin, pregnancy-associated plasma protein A, alpha-fetoprotein, placental growth factor, and dimeric inhibin A.
Utilized Gaussian distributions to model DR and FPR based on multiples of the median values.

Main Results:

For T21, the protocol achieved a 98% DR at a 1.2% FPR with a 1/300 risk cut-off, and a 99% DR at a 2.6% FPR with a 1/1000 cut-off.
For T18/13, a 95% DR was observed at a 0.5% FPR with a 1/150 cut-off, and a 97% DR at a 1.2% FPR with a 1/500 cut-off.
The screening incorporated nuchal translucency and nasal bone measurements.

Conclusions:

An expanded conventional screening test incorporating five serum markers and ultrasound demonstrates high detection rates and low false positive rates for common trisomies.
This protocol complements cell-free DNA (cfDNA) screening strategies and offers additional benefits, such as identifying pregnancies at risk for early-onset preeclampsia.