When is preimplantation genetic diagnosis acceptable? - Brandeis 2025

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This technique examines embryos using either cytogenetic or molecular techniques for (1) single-gene disorders (eg, Huntington disease, cystic fibrosis, fragile X syndrome), including those that are autosomal dominant and recessive or X-linked, or (2) hereditary cancer syndromes (eg, hereditary and ovarian
One of the main limitations of PGT-M is the genetic variability and complexity inherent to monogenic diseases themselves. Hereditary genetic diseases can be caused by different mutations on the same gene or mutations on different genes that lead to similar phenotypes.
PGD is available for almost any inherited condition for which the exact mutation is known. A unique test must be developed for each couple, however. This test design may take up to several months to complete before beginning an IVF cycle. PGD uses IVF, in which multiple eggs are matured and retrieved.
Doctors also recommend that women who are considered to be at advanced maternal age (35 and older) use PGD. This is because as a woman gets older, the chromosomes in her eggs do not always divide normally, which can increase the chance of developing embryos with abnormal chromosomes.
The two main steps to the three types of PGT are the same. The first step is an embryo biopsy. The second step is analysis of the biopsy by a laboratory to conduct genetic testing on DNA. In both forms of testing, the biopsy is at the blastocyst (day 5 or day 6 of embryo culture) stage of development.
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