Most people are carriers of genetic diseases but are unaware of it because they do not exhibit any clinical symptoms and appear practically healthy. This condition is known as being a carrier of a recessive genetic disease, which is inherited and passed down from parents to children.
Genetic Carrier Screening is a genetic test for couples or individuals during family planning. It aims to determine if they are carriers of recessive diseases and, consequently, to assess the risk of having children with those conditions. In most cases, clinical symptoms of a disease manifest only when both parents are carriers of the same condition.
Carrier screening can identify the following conditions:
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Fragile X Syndrome
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Spinal Muscular Atrophy (SMN1-SMA)
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Thalassemia and Hemoglobinopathies
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Additionally, a panel of 437 genes can be examined, whose pathogenic variants cause 448 severe recessive childhood diseases, including Cystic Fibrosis (CF).
Genetic Carrier Screening is recommended:
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During family planning, prior to conception;
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In the early stages of pregnancy (<12 weeks of gestation);
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For couples planning In-Vitro Fertilization (IVF);
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For couples with a known family history of recessive genetic diseases;
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During family planning, even if no genetic diseases are known to exist in the family;
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For consanguineous couples (blood relatives);
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For ethnic groups with a high prevalence of specific genetic diseases.
What are the benefits of Genetic Carrier Screening?
In combination with genetic counseling, carrier screening helps couples make informed decisions during family planning:
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If a patient is found to be a carrier of a specific disease, the partner should also be screened for the same condition to determine the risk of having an affected child.
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Knowing their carrier status allows couples to consider the full range of reproductive options (e.g., gamete donation, Preimplantation Genetic Testing [PGT], or prenatal diagnostics).
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Identifying carrier status for certain diseases increases awareness of potential obstetric complications and improves pregnancy management.
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Knowledge of specific familial mutations allows for immediate postnatal testing of the newborn, leading to earlier intervention and better treatment outcomes.
Methodology: The panel genetic study is conducted using Next Generation Sequencing (NGS). The genes included in the panel are selected by experts in accordance with the recommendations of the American College of Medical Genetics and Genomics (ACMG).