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Updated: May 27, 2026

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Published on: August 25, 2019

Stepwise sequential aneuploidy screening in clinical practice.

Joseph R Wax¹, Angelina Cartin, Dwight Smith

¹Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Maine Medical Center, Portland, ME, USA.

Journal of Clinical Ultrasound : JCU

|November 22, 2011

Summary

This summary is machine-generated.

Stepwise sequential screening (SSS) demonstrates high efficiency in detecting fetal aneuploidies, including trisomy 21, in clinical practice. This method offers excellent performance for prenatal diagnosis.

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FISH for Pre-implantation Genetic Diagnosis

FISH for Pre-implantation Genetic Diagnosis

Published on: February 23, 2011

Area of Science:

Maternal-Fetal Medicine
Prenatal Diagnostics
Genetics

Background:

Prenatal screening for fetal aneuploidies is crucial for early diagnosis and management.
Stepwise sequential screening (SSS) is a common method used in clinical practice.
Evaluating the efficiency of SSS in real-world settings is important.

Purpose of the Study:

To assess the efficiency of stepwise sequential screening (SSS) in a clinical setting.
To determine the detection rates and screen-positive rates of SSS for fetal aneuploidies.

Main Methods:

A retrospective analysis of 2,726 singleton pregnancies undergoing SSS by NTQR-credentialed providers.
Data collection from prospectively ascertained serum screening and genetics databases.
Prenatal diagnosis offered based on screening results, nuchal translucency measurements, or cystic hygroma presence.

Main Results:

SSS identified all eight cases of trisomy 21 and all seven cases of other aneuploidies.
The overall screen-positive rate for SSS was 4.3%.
The study included a substantial number of screened patients, providing robust data.

Conclusions:

Stepwise sequential screening is an effective method for aneuploidy detection in clinical practice.
SSS demonstrates excellent efficiency and performance for prenatal diagnosis of fetal aneuploidies.
The findings support the continued use of SSS in obstetric care.