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Related Experiment Video

Updated: May 14, 2026

Transgenic Rodent Assay for Quantifying Male Germ Cell Mutant Frequency

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Published on: August 6, 2014

Reproductive Risk Estimation Calculator for Balanced Translocation Carriers: An Improved Web-based Resource for

Carolyn Trunca^1,2, Nancy R Mendell³, Samantha L P Schilit^4,2

¹Department of Pathology and Laboratory Medicine, Cell Genetics Division, Cytogenetics, North Shore University Hospital, Manhasset, New York.

Current Protocols

|January 27, 2025

Summary

Balanced translocation carriers face higher reproductive risks. New protocols and calculators help genetics professionals estimate these risks, improving patient counseling and decision-making for unbalanced conceptuses.

Keywords:

balanced translocation recurrence risk risk estimate structural rearrangement

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Area of Science:

Genetics
Reproductive Medicine
Bioinformatics

Background:

Balanced translocations can lead to chromosomally unbalanced gametes, increasing risks of pregnancy loss and congenital anomalies.
Accurate reproductive risk assessment is crucial for informed decision-making by carriers, but individualized estimates are challenging due to the uniqueness of most translocations.

Purpose of the Study:

To establish a sustainable protocol for genetics professionals to obtain reproductive risk estimates for balanced translocation carriers.
To enhance accessibility and reduce errors in risk calculation for genetic counseling.

Main Methods:

Development of logistic regression models based on a dataset of over 6000 individuals from 1000 translocation families.
Creation of a web-based calculator and a custom Java program for risk estimation, including age-adjusted miscarriage risks.
Provision of practice tutorials for calculator use and interpretation.

Main Results:

Validated logistic regression models provide a basis for reproductive risk estimation.
A user-friendly web-based calculator and a Java program are available for calculating age-adjusted miscarriage risks.
Tutorials ensure competency in interpreting the risk assessment outputs.

Conclusions:

The developed protocol and tools offer a sustainable and accessible method for genetics professionals to provide accurate reproductive risk assessments to balanced translocation carriers.
Improved risk estimation empowers carriers to make informed reproductive choices, potentially reducing adverse outcomes.