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Nondisjunction

Nondisjunction

Nondisjunction is the failure of homologous chromosomes or sister chromatids to separate correctly and move to the opposite poles of the cells. This produces daughter cells with abnormal chromosome numbers. Nondisjunction is common during anaphase I or anaphase II of meiosis. Mutations in synaptonemal complex proteins that attach homologous chromosomes increase the chances of nondisjunction in anaphase I of meiosis I. In contrast, mutations in topoisomerases and condensins that hold...

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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

Detection Rates for Aneuploidy by First-Trimester and Sequential Screening.

Rebecca J Baer¹, Monica C Flessel, Laura L Jelliffe-Pawlowski

¹California Department of Public Health, Genetic Disease Screening Program, Richmond, the Department of Pediatrics, University of California, San Diego, La Jolla, California; the Departments of Epidemiology and Biostatistics and Obstetrics, Gynecology and Reproductive Sciences, University of California, San Francisco, San Francisco, the Division of Medical Genetics, Stanford University, Stanford, California, and Maternal Fetal Care and Genetics, University of California, San Diego, San Diego, California.

Obstetrics and Gynecology

|September 9, 2015

Summary

First-trimester and sequential screening effectively detect aneuploidy, including Down syndrome and trisomy 18. These methods offer high sensitivity and specificity for various chromosomal abnormalities in pregnancies.

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FISH for Pre-implantation Genetic Diagnosis

FISH for Pre-implantation Genetic Diagnosis

Published on: February 23, 2011

Area of Science:

Prenatal Diagnostics
Genetics
Maternal-Fetal Medicine

Background:

Aneuploidy screening is crucial for identifying chromosomal abnormalities during pregnancy.
First-trimester and sequential screening offer opportunities for early detection.

Purpose of the Study:

To estimate the detection rates of aneuploidy using first-trimester and sequential screening methods.
To assess the effectiveness of these screening protocols in a large population.

Main Methods:

Analysis of data from the California Prenatal Screening Program (August 2009 - December 2012).
Inclusion of women with singleton pregnancies undergoing first- or sequential screening.
Detection rates measured against the California Chromosome Defect Registry for target and other aneuploidies.

Main Results:

Screening identified Down syndrome with 92.9% detection, trisomy 18 with 93.2%, trisomy 13 with 80.4%, 45,X with 80.1%, and triploidy with 91.0%.
Overall detection rate for chromosomal abnormalities was 81.6% with a 4.5% false-positive rate.
Specific screen-positive rates were reported for Down syndrome, trisomy 18, and other conditions.

Conclusions:

First-trimester and sequential screening demonstrate high sensitivity and specificity.
These screening approaches are effective for a wide spectrum of fetal karyotype abnormalities.