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FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
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Hemoglobinopathies and preimplantation diagnostics
Thalia Mamas1, Georgia Kakourou1, Christina Vrettou1
1Laboratory of Medical Genetics, National and Kapodistrian University of Athens, Athens, Greece.
International Journal of Laboratory Hematology
|April 20, 2022
Summary
Preimplantation genetic testing for monogenic disorders (PGT-M) offers a reproductive choice for couples carrying hemoglobinopathies, preventing affected pregnancies. Advanced PGT-M techniques now allow simultaneous diagnosis of genetic disorders and chromosomal screening in embryos.
Area of Science:
- Reproductive Genetics
- Genetic Diagnostics
- Inherited Blood Disorders
Background:
- Hemoglobinopathies are common, severe inherited disorders with challenging management and limited treatment accessibility.
- Preimplantation genetic testing for monogenic disorders (PGT-M) provides a reproductive option for carrier couples, preventing affected pregnancies.
- PGT-M is utilized in assisted reproductive technologies to select unaffected embryos for uterine transfer.
Purpose of the Study:
- To highlight the role of PGT-M in reproductive options for hemoglobinopathy carrier couples.
- To discuss the evolution and advancements in PGT-M protocols.
- To emphasize the combined application of PGT-M for hemoglobinopathies and chromosomal screening.
Main Methods:
- PGT-M involves analyzing embryos generated through assisted reproductive technologies.
- Protocols evolved from PCR-based analysis of limited loci to whole genome amplification (WGA)-based methods.
- WGA enhances diagnostic accuracy, enables generic strategies, and facilitates multiple diagnoses per embryo.
Main Results:
- PGT-M has been successfully applied for 30 years, with beta-thalassemia being a primary indication.
- PGT can also be used for human leukocyte antigen (HLA) typing to identify embryos compatible with affected siblings.
- Current PGT-M enables simultaneous diagnosis of hemoglobinopathies and screening for chromosomal abnormalities.
Conclusions:
- PGT-M is a crucial reproductive technology for preventing inherited hemoglobinopathies.
- Advancements in PGT-M, particularly WGA, have significantly improved diagnostic capabilities and efficiency.
- Simultaneous genetic and chromosomal analysis in PGT aims to optimize success rates and healthy deliveries.
