Journal Article

Reproductive Choices in Haemoglobinopathies: The Role of Preimplantation Genetic Testing

Vrettou, Christina, Traeger-Synodinos, Joanne, Kakourou, Georgia, Mamas, Thalia

2025

Overview

Haemoglobinopathies are among the most prevalent genetic disorders globally. In the context of these conditions, preimplantation genetic testing (PGT) plays a pivotal role in preventing genetic diseases in the offspring of carrier parents, reducing the need for pregnancy termination and enabling the selection of compatible sibling donors for potential stem cell transplantation in cases of thalassemia or sickle cell disease. This review explores the evolving role of PGT as a reproductive option for haemoglobinopathy carriers, tracing the development of PGT protocols from patient-specific to comprehensive testing enabled by advanced technologies like next-generation sequencing (NGS). We discuss key technical, biological, and practical limitations of PGT, as well as the ethical considerations specific to haemoglobinopathies, such as the complexity of interpreting genotypes. Emerging technologies, such as whole-genome sequencing, non-invasive PGT, and gene editing, hold significant promise for expanding applications but also raise new challenges that must be addressed. It will be interesting to explore how advancements in technology, along with the changing management of haemoglobinopathies, will impact reproductive choices. It is anticipated that continued research will improve genetic counseling for PGT for haemoglobinopathies, while a careful evaluation of ethical and societal implications is also required. Responsible and equitable implementation of PGT is essential for ensuring that all families at risk can make informed reproductive choices.

• Publisher: MDPI AG,MDPI
• Subject: Anemia / Blood diseases / Chromosomes / Clinical significance / Disease transmission / DNA sequencing / Enzymes / Ethics / Female / Gene expression / Genes / Genetic Counseling / Genetic disorders / Genetic screening / Genetic Testing - methods / Genomics / Genotype & phenotype / Genotypes / Hematology / Hemoglobin / Hemoglobinopathies - diagnosis / Hemoglobinopathies - genetics / Humans / Hydrops fetalis / Medical genetics / Next-generation sequencing / Nucleotide sequencing / Polypeptides / Pregnancy / Preimplantation Diagnosis - ethics / Preimplantation Diagnosis - methods / Protein synthesis / Proteins / Review / Sickle cell anemia / Sickle cell disease / Stem cell transplantation / Stem cells / Thalassemia / Whole genome sequencing