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Describing the number and physical features of chromosomes can reveal abnormalities that underlie genetic diseases. This description is facilitated by special staining techniques that produce a particular banding pattern on each chromosome. State-of-the-art techniques make this approach even more powerful, enabling the detection of individual genes that cause disease.A Simple Chromosome Staining Technique Provides Valuable Scientific InsightSome genetic diseases can be detected by looking at...

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Updated: Jun 22, 2026

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Published on: August 25, 2019

Triple-marker prenatal screening program for chromosomal defects.

N Neely Kazerouni¹, Bob Currier, Linda Malm

¹From the Genetic Disease Screening Program, California Department of Public Health, Richmond, California.

Obstetrics and Gynecology

|June 24, 2009

Summary

This summary is machine-generated.

California's triple-marker screening program demonstrated high detection rates for Down syndrome, exceeding predictions. This study provides valuable data for improving prenatal screening accuracy.

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Area of Science:

Prenatal diagnostics
Genetics
Public health surveillance

Background:

The triple-marker screening program in California aims to detect chromosomal abnormalities.
Accurate screening is crucial for informed reproductive decisions and timely intervention.

Purpose of the Study:

To evaluate the real-world screening performance of California's triple-marker screening program.
To analyze detection rates for Down syndrome and other chromosomal defects.

Main Methods:

Utilized data from 752,686 women in the California Chromosomal Defect Registry (CCDR) from July 2005 to June 2007.
Included follow-up diagnostic outcomes for screen-positive women at state-approved centers.
Incorporated data from cytogenetic laboratories, hospitals, and prenatal care providers.

Main Results:

Observed Down syndrome detection rate was 77.4%, varying by gestational dating (81.3% ultrasound vs. 67.5% LMP) and maternal age (94.0% ≥35 yrs vs. 62.4% <35 yrs).
Detection rates for other trisomies: Turner syndrome (79.4%), trisomy 18 (82.5%), triploidy (98.1%), and trisomy 13 (36.0%).
Positive rate for Down syndrome was 5.4%; 49.5% of screen-positive women opted for amniocentesis, with subsequent outcomes including termination (61.4%), live birth (26.2%), and miscarriage/death (4.5%).

Conclusions:

California's triple-marker screening program performance for Down syndrome surpassed predicted detection rates.
The study methodology will be applied to assess future screening enhancements.
Findings highlight the program's effectiveness and provide a benchmark for improvement.