Treatment Overview
Expanded Carrier Screening for Couples Planning Pregnancy in Korea is an advanced genetic test designed to identify whether individuals or couples carry genetic mutations that could potentially be passed on to their future children. While carriers are usually healthy and show no symptoms, if both partners carry mutations in the same gene, their offspring may be at risk of serious inherited conditions such as cystic fibrosis, spinal muscular atrophy (SMA), thalassemia, or Tay-Sachs disease.
In Korea, women’s health and fertility centers provide state-of-the-art expanded carrier screening using next-generation sequencing (NGS) and bioinformatics-based variant analysis. This screening can evaluate hundreds of genes simultaneously, offering one of the most comprehensive assessments of hereditary risks available before conception or early in pregnancy.
Korea’s leading position in genomic diagnostics and reproductive medicine makes it a global hub for couples seeking precise, ethical, and personalized preconception genetic screening.
Purpose & Benefits
Purpose:
- To identify recessive or X-linked genetic variants that may cause inherited diseases.
- To assess shared carrier status between partners before conception.
- To prevent transmission of genetic disorders to future generations.
- To guide reproductive and fertility planning, including IVF with preimplantation genetic testing (PGT).
- To provide accurate genetic counselling and personalized risk management.
Benefits:
- Comprehensive insight: Screens hundreds of conditions from a single test.
- Non-invasive: Requires only a blood or saliva sample from each partner.
- Early identification: Detects risks before pregnancy, enabling proactive care.
- Empowered family planning: Couples can make informed reproductive choices.
- Supports IVF and embryo screening: Enables healthy embryo selection for conception.
- High clinical accuracy: Uses next-generation sequencing with AI-assisted variant analysis.
Ideal Candidates
Expanded Carrier Screening is recommended for:
- Couples planning pregnancy, especially those wanting to understand hereditary risks.
- IVF and assisted reproduction patients seeking genetic assurance before embryo transfer.
- Couples with a family history of inherited disorders.
- Individuals of advanced maternal or paternal age.
- Couples from different ethnic backgrounds with diverse genetic profiles.
- Couples with previous miscarriages or unexplained neonatal loss.
- Patients advised by genetic counselors following abnormal test or family history results.
Possible Risks & Considerations
- The test is non-invasive and physically risk-free.
- Emotional stress may occur if carrier results indicate potential risks; genetic counselling mitigates this concern.
- Some variants identified may be of uncertain clinical significance (VUS) and require further evaluation.
- Follow-up diagnostic testing or embryo genetic testing may be recommended for confirmed carriers.
- Confidentiality is strictly maintained; Korea enforces ethical and data protection standards in all genetic services.
Korean hospitals ensure compassionate, professional communication and guidance at every stage of the screening process.
Medical & Diagnostic Techniques Used in Korea
Korean genetic laboratories employ cutting-edge technology to deliver fast and accurate results in carrier screening, combining molecular biology with computational genetics.
Key Diagnostic Methods Include:
- Next-Generation Sequencing (NGS): Simultaneous analysis of hundreds of genes to detect pathogenic mutations.
- Targeted Gene Panels: Focus on clinically significant genes associated with severe hereditary disorders.
- Whole-Exome Sequencing (WES): Offers deeper variant detection for rare genetic conditions.
- Copy Number Variation (CNV) Analysis: Identifies large gene deletions or duplications missed in standard sequencing.
- AI-Enhanced Variant Interpretation: Korean labs use machine learning algorithms for precise pathogenicity classification.
- Couple Matching Analysis: Automatically compares both partners’ genetic profiles to calculate shared disease risk.
- Customized Ethnicity-Specific Panels: Adjusted for Korean, Asian, and global genetic diversity.
These methods provide unparalleled accuracy, enabling couples to take preventive steps for healthier pregnancies and future generations.
Recovery & Aftercare
- No recovery required: The screening process involves a simple blood or saliva collection.
- Results timeline: Typically available within 2–3 weeks.
- Genetic counselling: Couples receive pre- and post-test consultations to understand results and implications.
- Follow-up recommendations: If both partners carry the same mutation, options like IVF with PGT or donor gametes may be discussed.
- Psychological support: Genetic counsellors provide emotional reassurance and clarity during decision-making.
Korean hospitals ensure that results are delivered sensitively, with ongoing care and education for both partners.
Results & Longevity
- Permanent validity: Carrier status does not change, so results remain applicable for future pregnancies.
- Comprehensive genetic profile: Identifies hundreds of possible mutations across multiple gene families.
- Improved reproductive confidence: Enables informed planning for conception and childbirth.
- Integration with fertility services: Ensures smooth coordination with IVF and preimplantation testing.
- Long-term family benefits: Protects future generations from avoidable inherited diseases.
The results serve as a genetic roadmap for lifelong family health management and future reproductive planning.
Procedure Process in Korea
1. Pre-Test Genetic Consultation
Couples meet with a genetic counselor or fertility specialist to review family history, understand test options, and discuss potential outcomes.
2. Sample Collection
A small blood or saliva sample is collected from each partner, ensuring comfort and convenience.
3. DNA Extraction & Sequencing
Samples are processed in advanced Korean laboratories using NGS technology to identify genetic variants.
4. Bioinformatics Analysis & Matching
AI algorithms analyze the sequencing data, compare both partners’ genetic results, and detect shared mutations linked to recessive conditions.
5. Results & Genetic Counselling
A comprehensive report is generated and explained to the couple in a private counseling session. Reproductive options and preventive measures are discussed if shared risks are found.
Why Korea Is a Top Destination
- World-class genomic laboratories equipped with high-throughput sequencing platforms.
- Multidisciplinary genetic care, combining fertility medicine and molecular genetics.
- AI-driven risk analysis for faster, more accurate results.
- Comprehensive pre- and post-test counseling ensuring clarity and comfort.
- Global patient care standards with multilingual services for international couples.
Unique Korean Methods & Technology
- AI-powered couple compatibility algorithms to detect shared mutation risks.
- Expanded carrier panels covering 400+ genes relevant to Asian and international populations.
- Precision sequencing with digital data storage for lifelong record accessibility.
- Ethically guided risk reporting focused on clinical relevance and emotional well-being.
- Integration with IVF and genetic medicine centers for a seamless testing-to-treatment pathway.
Cost Range
The cost of Expanded Carrier Screening for Couples Planning Pregnancy in Korea varies based on the number of genes screened, hospital level, and inclusion of counseling sessions:
- Basic carrier screening (common mutations): USD 400 – 700
- Expanded carrier panel (100–300 genes): USD 800 – 1,200
- Comprehensive dual-partner screening (400+ genes): USD 1,200 – 2,000
- Integrated fertility-genetic package (includes counselling & IVF coordination): USD 1,500 – 2,800
Korean hospitals often offer bundled preconception genetic packages that include carrier screening, counseling, and preimplantation genetic testing support for IVF patients.
Popular Hospitals and Centers in Korea
- Asan Medical Center (Seoul): Offers advanced NGS-based carrier screening and genetic analysis.
- Samsung Medical Center (Seoul): Provides expanded carrier testing integrated with fertility care programs.
- Severance Hospital (Yonsei University Health System): Known for comprehensive couple-based genetic diagnostics.
- CHA Bundang Women’s Hospital: Specializes in preconception and IVF-linked genetic screening.
- MizMedi Women’s Hospital: Focuses on accessible, patient-centered genetic testing for family planning.
