Genetic

Spinal Muscular Atrophy (SMA) – Why is Genetic Screening Important?

Spinal Muscular Atrophy (SMA) is a rare autosomal recessive neurological-muscular disorder. The cause of SMA is a homozygous or compound heterozygous mutations in the SMN1 gene, which results in insufficient...

Pre-Marriage tests assess the risk of children affected Thalassemia

Thalassemia is a hereditary hemolytic disease that causes serious health complications and affects the future of the next generation. With its genetic inheritance through recessive genes from both parents,...

What serious consequences can genetic abnormalities cause?

Genetic abnormalities can lead to serious consequences in reproductive health and the well-being of future generations. From a medical perspective, the following article will analyze specific risks and...

Application of PGT-M for Thalassemia

The PGT-M (Preimplantation Genetic Testing for Monogenic Disorder), also commonly known as PGD (Preimplantation Genetic Diagnosis), is a genetic testing conducted before embryo implantation. This technique...

Early detection of Patau syndrome through genetic screening?

Patau Syndrome is a rare congenital genetic disorder that severely affects the health of the child and can even lead to death either in utero or shortly after birth. Patau Syndrome (or Trisomy 13) is a...

Who needs genetic counseling?

Genetic counseling is a process of communication between a doctor and a patient that helps you understand your genetic status and potential risks. Here are 6 groups of people who should consider early...

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