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Reproductive Risk Estimation Calculator for Balanced Translocation Carriers.

Carolyn Trunca¹, Nancy R Mendell², Samantha L P Schilit^3,4

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

Current Protocols

|December 26, 2022

Summary

Balanced translocation carriers face higher reproductive risks. New protocols and a Java program help genetics professionals estimate these risks for patients, aiding reproductive decision-making.

Keywords:

balanced translocation recurrence risk risk estimate structural rearrangement

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Area of Science:

Genetics
Reproductive Medicine
Biostatistics

Background:

Balanced translocations can lead to unbalanced gametes, increasing risks of pregnancy loss and birth defects.
Accurate reproductive risk assessment is crucial for carrier counseling but challenging due to translocation uniqueness.

Purpose of the Study:

To establish a sustainable protocol for genetics professionals to estimate reproductive risks for balanced translocation carriers.
To provide a user-friendly tool for calculating and interpreting these risks.

Main Methods:

Development of risk estimation models using logistic regression analysis.
Analysis of a dataset comprising over 6000 individuals from 1000+ translocation families.
Creation of a Java program to implement the predictive models.

Main Results:

Validated logistic regression models provide improved reproductive risk estimates.
The protocol and associated software offer a practical method for risk assessment.
Tutorials ensure user competency in interpreting risk outputs.

Conclusions:

This protocol offers a standardized and sustainable approach for geneticists to assess reproductive risks in balanced translocation carriers.
Empowers healthcare providers to deliver precise genetic counseling and support informed patient decisions.