Treatment Overview
Pre-implantation Genetic Testing for Monogenic Diseases (PGT-M) is a highly specialized reproductive genetic procedure performed during in-vitro fertilization (IVF) to identify genetic mutations responsible for inherited single-gene disorders before pregnancy. This allows only genetically healthy embryos to be transferred into the uterus, significantly reducing the risk of transmitting serious hereditary diseases to future generations.
In Korea, fertility centers and women’s hospitals are internationally renowned for their precision in PGT-M, combining next-generation sequencing (NGS), polymerase chain reaction (PCR), and bioinformatics analysis with world-class IVF technology. The process ensures the highest accuracy in detecting monogenic mutations responsible for conditions such as cystic fibrosis, thalassemia, spinal muscular atrophy (SMA), Duchenne muscular dystrophy, and hemophilia.
Korea’s integration of advanced reproductive genetics, ethical practice, and patient-centered care makes it a global destination for families seeking healthy conception through modern genomic science.
Purpose & Benefits
Purpose:
- To detect specific gene mutations known to cause monogenic or single-gene inherited diseases.
- To prevent the transmission of autosomal recessive, dominant, or X-linked disorders to offspring.
- To ensure healthy embryo selection during IVF before implantation.
- To provide couples with a genetically informed reproductive choice.
- To reduce emotional and medical risks associated with hereditary diseases in future pregnancies.
Benefits:
- Accurate detection: Identifies single-gene mutations with over 98% accuracy.
- Improved IVF outcomes: Enables selection of embryos free of targeted genetic diseases.
- Reduces risk of miscarriage: Prevents transfer of embryos carrying severe genetic abnormalities.
- Ethically safe and precise: Conducted under strict clinical and ethical protocols.
- Personalized family planning: Empowers families with control over genetic health.
- Emotional reassurance: Offers peace of mind to couples with known genetic risks.
Ideal Candidates
PGT-M is recommended for:
- Couples who are carriers of the same monogenic condition (autosomal recessive).
- Families with a known genetic disorder (dominant or X-linked) in one parent.
- Couples with previous pregnancies affected by inherited genetic diseases.
- Parents with consanguineous marriage history (closely related couples).
- IVF patients seeking to prevent the transmission of specific inherited mutations.
- High-risk families identified through carrier screening or family history.
- Individuals who have undergone genetic counseling confirming carrier status.
Possible Risks & Considerations
- The procedure is minimally invasive for embryos and carries no risk to the mother.
- Embryo biopsy must be performed by skilled embryologists to ensure embryo viability.
- False positives or mosaicism may rarely occur due to technical limitations; confirmatory testing is performed post-transfer if necessary.
- Limited embryo availability may result if most embryos are affected or inconclusive.
- Ethical and emotional considerations require pre- and post-test genetic counseling.
- In Korea, PGT-M is performed under strict ethical regulations, with informed consent and patient guidance at every step.
Medical & Diagnostic Techniques Used in Korea
Korea’s fertility and genetic medicine centers use cutting-edge molecular and embryological techniques to ensure precision and success in PGT-M procedures.
Key Diagnostic Methods Include:
- Next-Generation Sequencing (NGS): Enables high-throughput detection of gene mutations with superior accuracy.
- Polymerase Chain Reaction (PCR): Amplifies DNA from embryo cells for targeted gene analysis.
- Linkage Analysis: Identifies specific genetic markers surrounding the mutation of interest.
- Whole-Genome Amplification (WGA): Expands limited embryonic DNA for deeper testing.
- Bioinformatics Variant Analysis: Korean laboratories use AI-assisted systems to interpret complex genomic data.
- Single-Cell Genomics: Allows reliable testing of DNA from one or a few embryonic cells.
- Combined PGT-M and PGT-A: Detects both monogenic mutations and chromosomal abnormalities for comprehensive embryo assessment.
These methods make Korea one of the global leaders in reproductive genetic medicine and embryo diagnostics.
Recovery & Aftercare
- No recovery needed for the mother, as the test is performed on embryos in the IVF laboratory.
- Embryo care: Healthy embryos are cryopreserved and transferred in a later IVF cycle once testing is complete.
- Post-test counseling: Couples receive detailed results and consultation on next steps.
- Follow-up IVF cycles: In case no healthy embryos are available, patients may undergo a new IVF cycle with continued genetic guidance.
- Emotional and psychological support: Korean clinics provide counseling services throughout the process.
Aftercare in Korea emphasizes personalized care, emotional support, and complete transparency at every stage of genetic testing and embryo management.
Results & Longevity
- Accurate detection: Confirms presence or absence of targeted genetic mutations.
- Long-term benefits: Ensures birth of a genetically healthy child, reducing lifelong medical risks.
- Comprehensive insight: Reports include carrier status, mutation type, and embryo health summary.
- Permanent genetic assurance: Once confirmed, the same test can be applied for future pregnancies if needed.
- Higher IVF success rates: Healthy embryos have better implantation and live-birth outcomes.
Korean fertility centers integrate results seamlessly into ongoing IVF management for safe and effective conception.
Procedure Process in Korea
1. Pre-Test Genetic Consultation
Genetic counselors and reproductive specialists review family medical history, previous test results, and known gene mutations. Couples undergo carrier testing if not already done.
2. IVF and Embryo Creation
Eggs are retrieved and fertilized in a laboratory setting. Embryos are cultured until the blastocyst stage (Day 5–6) for optimal biopsy quality.
3. Embryo Biopsy
A few cells are gently removed from the outer layer (trophectoderm) of the embryo using a laser-assisted micromanipulation system. The biopsy is safe and does not harm the embryo.
4. Genetic Testing and Analysis
The collected cells are analyzed using NGS, PCR, or linkage-based methods to detect the specific gene mutation.
5. Result Interpretation
Results classify embryos as affected, carrier, or unaffected (healthy). Only unaffected embryos are selected for transfer.
6. Embryo Transfer
Healthy embryos are transferred to the uterus in a subsequent IVF cycle for pregnancy.
Why Korea Is a Top Destination
- State-of-the-art genetic laboratories integrated within top fertility centers.
- Highly skilled embryologists and geneticists with global certifications.
- Advanced PGT-M panels customized for Asian genetic variants.
- AI-enhanced genomic analysis ensuring rapid and accurate results.
- Ethical, patient-centered approach focused on safety and transparency.
Unique Korean Methods & Technology
- Korean-tailored PGT-M panels for population-specific gene mutations.
- AI-driven variant interpretation systems reducing human error.
- Combined PGT-M + PGT-A protocols improving embryo quality assessment.
- Microfluidic biopsy techniques for safer embryo sampling.
- Cloud-integrated genomic databases ensuring secure and efficient analysis.
Cost Range
The cost of Pre-implantation Genetic Testing for Monogenic Diseases (PGT-M) in Korea depends on the number of embryos tested and the complexity of the genetic mutation:
- Basic PGT-M for a single known mutation: USD 2,000 – 3,000
- Comprehensive PGT-M with NGS panel: USD 3,000 – 5,000
- PGT-M + PGT-A combined testing package: USD 4,000 – 6,000
- Full IVF + PGT-M fertility package (including counseling, biopsy, and transfer): USD 8,000 – 12,000
Korean fertility centers often offer personalized IVF-genetic testing packages, ensuring couples receive tailored solutions based on medical and genetic profiles.
Popular Hospitals and Centers in Korea
- CHA Bundang Women’s Hospital: Renowned for advanced PGT-M and IVF integration with high success rates.
- Samsung Medical Center (Seoul): Offers cutting-edge genetic testing and preimplantation diagnostics.
- Asan Medical Center (Seoul): Provides comprehensive monogenic and chromosomal testing programs.
- Severance Hospital (Yonsei University Health System): Specializes in reproductive genomics and hereditary disease prevention.
- MizMedi Women’s Hospital: Focused on accessible PGT-M solutions for international and domestic patients.
