Understanding Carrier Screening
Carrier screening is a genetic test used to determine whether an individual carries a recessive genetic variant that could increase the risk of passing on a genetic disorder to their offspring. It is a critical first step in pre-marital and prenatal care. Expanded Carrier Screening (ECS) allows for the simultaneous detection of dozens of conditions and associated genes, significantly reducing the risk of recessive genetic disorders in the next generation.
Recent studies have identified over 1,800 known single-gene recessive disorders. On average, every person carries about two recessive disease-causing variants. It is estimated that approximately 2 to 3 out of every 100 couples are at risk of having a child affected by a recessive genetic condition.
According to data from Taiwan’s Ministry of Health and Welfare, the leading cause of neonatal death is congenital malformations, deformations, and chromosomal abnormalities. Among these, single-gene disorders play a significant role. Because carriers typically show no clinical symptoms, couples may be unaware of their risks and overlook the seriousness of these conditions.
There are two main inheritance patterns for single-gene recessive disorders:
• Autosomal recessive inheritance: If both parents carry one copy of the same faulty gene, there is a 25% chance with each pregnancy, regardless of the baby's gender, that the child will be affected by the condition.
X-linked inheritance: If the mother carries one defective gene on the X chromosome, she usually shows no symptoms due to a second, normal X chromosome. However, she has a 50% chance of passing the condition to a son (who may be affected) and a 50% chance of passing the carrier status to a daughter.
Carrier Screening Panel Overview
| Test Name | Recessive Genetic Carrier Screening | |
|---|---|---|
| Scope of Testing | Comprehensive analysis of 221 recessive genetic disorders (List) | |
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Highlighted Diseases (Top 30) |
Beta Thalassemia |
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| Testing Technology |
Performed using Next-Generation Sequencing (NGS) Secondary confirmation using an orthogonal platform to ensure accuracy |
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| Advantages |
✓ Endorsed by leading international medical societies (e.g., ACMG, ACOG) ✓ Detects both single-nucleotide variants (SNVs) and copy number variations (CNVs) ✓ Entire process—from sequencing to data analysis—is conducted in-house ✓ Comprehensive panel offering simultaneous detection of multiple severe and moderate inherited conditions |
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| 【Dual Testing for Double Assurance】 | ||
Recommended Candidates for Carrier Screening
- 1.Individuals undergoing premarital health checkups
- 2.Couples planning to conceive or already pregnant
- 3.Couples with a history of adverse pregnancy outcomes or a family history of genetic disorders
- 4.Individuals who wish to know if they are carriers of single-gene disorders
- 5.Egg or sperm donors
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No. 286, Kaiyuan Rd., North Dist., Tainan City 704 , Taiwan
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+886-6-2091666 ext. 232.233
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International Medical Support Services.
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