In Vitro Fertilization Treatment and the Importance of Genetic Testing in Consanguineous Marriages:
An Evaluation in the Light of Scientific Evidence
Consanguineous marriages constitute a special risk group in terms of reproductive health, particularly due to the increased incidence of autosomal recessive genetic diseases. With the widespread use of assisted reproductive technologies (ART), especially in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI), evaluation of the genetic structure of embryos in this patient group has gained increasing clinical importance.
In recent years, the development of preimplantation genetic testing (PGT) has enabled genetic analysis of embryos prior to transfer and has led to a reshaping of treatment strategies, particularly in couples with consanguineous marriages.
Consanguinity and Embryonic Genetic Structure
In a large-scale study published by Melado et al. in 2023, a total of 10,556 blastocyst embryos obtained from IVF/ICSI cycles were compared between consanguineous and non-consanguineous couples. All embryos were analyzed using preimplantation genetic testing for aneuploidy (PGT-A).
The study reported that:
● The distribution of chromosomal abnormalities in embryos differed in couples with consanguinity, ● Segmental chromosomal abnormalities were observed more frequently, ● Specific aneuploidy patterns emerged in certain chromosomes.
These findings indicate that morphologically good-quality embryos may not necessarily be genetically healthy. Therefore, embryo selection based solely on morphology may be insufficient in this patient group.
Clinical Importance of Genetic Testing
In consanguineous marriages, the likelihood that both parents carry genetic variants inherited from a common ancestor increases. This situation raises the risk of autosomal recessive diseases and may lead to more frequent homozygous regions at the embryonic level.
In this context, preimplantation genetic testing gains clinical importance under three main headings:
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