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Updated: Aug 7, 2025

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
Published on: August 25, 2019
Preimplantation Genetic Testing for Desired Pregnancy in Case of Parental Balanced Translocation
Morgan Schriever1, Jason Flanagan2,3,4, Tiffany Von Wald2,4
1University of South Dakota Sanford School of Medicine, Sioux Falls, South Dakota.
Abstract:
There are two main types of chromosomal translocations known as reciprocal translocations and Robertsonian translocations. These chromosomal rearrangements are described as balanced when there is no significant loss of chromosomal material. Most carriers of balanced translocations are phenotypically normal and may not even know they are carriers of a balanced translocation. A parental balanced translocation may become apparent after having a child with congenital anomalies, during genetic testing, or while trying to conceive due to the increased risk of producing embryos with chromosomal imbalances. In vitro fertilization (IVF) in combination with preimplantation genetic testing (PGT) can potentially decrease the rate of miscarriages and increase the chance of a successful pregnancy. This is a case report of a 29-year-old female with a balanced translocation undergoing IVF with PGTstructural rearrangement (SR) and PGT-aneuploidy (A).

