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Chapter-05 Genetic Counseling and Pre-PGT Workup

BOOK TITLE: ISARCON 2017 Manual of Preimplantation Genetic Diagnosis & Screening, Vitrification Gametes, Embryo and Tissues

Author
1. Madon Prochi F
ISBN
9789352700776
DOI
10.5005/jp/books/14177_6
Edition
1/e
Publishing Year
2018
Pages
8
Author Affiliations
1. Jaslok Hospital and Research Center, Mumbai, Maharashtra, India
Chapter keywords
Genetic counseling, preimplantation genetic testing, PGT workup, pre-test genetic counseling, genetic counselor, genetic testing

Abstract

This chapter seeks to familiarize the readers with the genetic counseling and preimplantation genetic testing (PGT) workup. Genetic counseling is the process by which individuals at risk of an inherited disorder are guided on the nature of the disorder, the probability of developing or transmitting it, tests for accurate diagnosis and the reproductive options available to prevent its recurrence even in the extended family. Pre-test genetic counseling is done by studying the family history and previous reports, determining the pattern of inheritance, identifying carriers who can transmit the disorder, explaining the genetic factors involved and facilitating specific genetic tests to determine the abnormality, if not already detected. Genetic counselors play an important role even for preimplantation genetic testing (PGT). The entire procedure is explained to the couple, together with the advantages, risks and limitations. Importance of genetic testing of an affected child and examples of cases for PGT are also given in this chapter.

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