Treatment Overview
Fetal Cardiac Gene Mutation Analysis for High-Risk Pregnancies in Korea is an advanced prenatal genetic test that identifies mutations or abnormalities in genes associated with congenital heart defects (CHDs). Congenital heart disease is one of the most common structural birth anomalies, and early detection at the genetic level helps guide medical care, pregnancy management, and neonatal treatment planning.
In Korea, leading women’s hospitals and genetic laboratories utilize next-generation sequencing (NGS) and whole-exome or targeted cardiac gene panels to detect mutations responsible for structural or rhythm-related heart conditions in fetuses. These include syndromes such as Noonan syndrome, DiGeorge syndrome (22q11 deletion), Holt-Oram syndrome, and cardiomyopathies.
Korea’s excellence in maternal-fetal medicine and genomic diagnostics ensures that high-risk pregnancies receive comprehensive genetic assessment, advanced fetal echocardiography, and multidisciplinary counseling — making it a global leader in prenatal cardiac genetic care.
Purpose & Benefits
Purpose:
- To identify genetic mutations causing congenital heart defects (CHDs) in the fetus.
- To evaluate inherited and de novo cardiac gene variants in high-risk pregnancies.
- To provide early diagnosis and prognosis for structural or rhythm-related heart abnormalities.
- To guide delivery planning and postnatal cardiac management.
- To support family counseling and risk assessment for future pregnancies.
Benefits:
- Early detection of fetal heart conditions: Enables timely medical intervention and management.
- Highly accurate: Uses NGS and bioinformatics to identify pathogenic gene variants.
- Personalized medical care: Supports tailored pregnancy monitoring and delivery preparation.
- Family risk assessment: Determines whether mutations are inherited or spontaneous.
- Improved neonatal outcomes: Facilitates immediate cardiac care after birth.
- Emotional reassurance: Provides families with clarity and informed options for care.
Ideal Candidates
Fetal Cardiac Gene Mutation Analysis is especially recommended for:
- High-risk pregnancies with abnormal fetal echocardiogram findings.
- Families with a history of congenital heart disease or sudden cardiac death.
- Fetuses showing structural heart defects detected by ultrasound.
- Pregnancies where previous children had congenital or genetic cardiac anomalies.
- IVF or ART pregnancies with suspected chromosomal risks.
- Cases of unexplained arrhythmia, cardiomyopathy, or growth restriction.
- Pregnancies with abnormal chromosomal microarray (CMA) results related to cardiac genes.
Possible Risks & Considerations
- The test itself is safe and low-risk, using fetal DNA obtained through amniocentesis or chorionic villus sampling (CVS).
- Minimal procedural risks are associated with sample collection, managed under expert supervision.
- Variants of uncertain significance (VUS) may be found, requiring specialist interpretation.
- Turnaround time is typically 2–4 weeks, depending on the gene panel or sequencing depth.
- Counselling is essential to interpret complex genetic results and plan next steps appropriately.
Korean hospitals follow international genomic testing standards, ensuring the highest accuracy and ethical handling of fetal genetic data.
Medical & Diagnostic Techniques Used in Korea
Korean maternal-fetal and genetic laboratories use a combination of molecular genetics, bioinformatics, and cardiac imaging for comprehensive fetal cardiac assessment.
Key Diagnostic Methods Include:
- Next-Generation Sequencing (NGS): Detects mutations in over 100 cardiac-related genes.
- Whole-Exome Sequencing (WES): Identifies rare or novel variants associated with congenital heart conditions.
- Targeted Cardiac Gene Panels: Focus on known genes linked to structural and electrical cardiac abnormalities.
- Chromosomal Microarray Analysis (CMA): Detects microdeletions and duplications such as 22q11 deletion.
- Copy Number Variation (CNV) Testing: Identifies large gene rearrangements missed by sequencing.
- AI-Assisted Variant Analysis: Korean labs apply artificial intelligence to classify mutations as pathogenic or benign.
- Parental (Trio) Testing: Determines whether detected variants are inherited or newly arisen (de novo).
- Integration with Fetal Echocardiography: Genetic data are correlated with cardiac imaging for clinical accuracy.
These combined methods enable precision diagnosis and comprehensive fetal cardiac evaluation for at-risk pregnancies.
Recovery & Aftercare
- No recovery time: The sequencing process is laboratory-based; only minimal aftercare is required after amniocentesis or CVS.
- Follow-up consultations: Parents receive in-depth counseling after results are available.
- Multidisciplinary support: Involves geneticists, obstetricians, pediatric cardiologists, and neonatologists.
- Pregnancy monitoring: Ongoing ultrasound and fetal heart scans track development and manage complications.
- Delivery preparation: If a serious defect is found, delivery is planned in a tertiary center with neonatal cardiac specialists.
- Family counseling: Discusses recurrence risk and options for future pregnancies.
Korea’s integrated maternal-fetal systems ensure compassionate and continuous support from diagnosis to postnatal care.
Results & Longevity
- Comprehensive genetic clarity: Confirms or excludes hereditary cardiac disorders.
- High diagnostic yield: Detects causative mutations in 30–60% of fetal CHD cases.
- Predictive value: Determines prognosis and need for neonatal surgery or intensive care.
- Permanent clinical relevance: Results remain valid for future reproductive planning.
- Improved pregnancy management: Enables early intervention strategies and reduced complications.
Korean hospitals combine genetic precision with multidisciplinary expertise to ensure the best outcomes for both mother and baby.
Procedure Process in Korea
1. Pre-Test Consultation
A genetic counselor or maternal-fetal specialist reviews the fetal echocardiogram findings, family history, and possible genetic causes of the cardiac condition.
2. Sample Collection
Fetal DNA is obtained through amniocentesis (after 15 weeks) or chorionic villus sampling (CVS) (from 11 weeks), depending on gestational stage.
3. Genetic Sequencing and Analysis
DNA is analyzed using NGS or WES platforms, targeting cardiac-related genes. Bioinformatics tools identify and classify detected mutations.
4. Result Interpretation and Counselling
Results are reviewed by a multidisciplinary team including geneticists and cardiologists. Counseling sessions are held to explain findings, their significance, and available medical options.
5. Ongoing Monitoring & Delivery Planning
If abnormalities are confirmed, the pregnancy is closely monitored with fetal echocardiography and delivery is planned in a specialized cardiac care facility.
Why Korea Is a Top Destination
- Global expertise in fetal cardiogenomics and high-risk pregnancy management.
- Integration of advanced genetics and maternal-fetal medicine for complete diagnostic precision.
- AI-assisted variant interpretation systems for accurate genetic diagnosis.
- Comprehensive multidisciplinary support, including cardiology and neonatal intensive care.
- Patient-centered care with empathetic counseling and personalized follow-up.
Unique Korean Methods & Technology
- AI-based pathogenicity modeling for rapid gene variant interpretation.
- Customized fetal cardiac gene panels for Asian and global populations.
- Trio-based sequencing for precise detection of de novo mutations.
- Integrated genomic–echocardiographic database systems for correlated analysis.
- Advanced perinatal coordination ensuring seamless transition from prenatal diagnosis to neonatal care.
Cost Range
The cost of Fetal Cardiac Gene Mutation Analysis for High-Risk Pregnancies in Korea depends on the test type, hospital, and sequencing complexity:
- Targeted cardiac gene panel (50–100 genes): USD 1,000 – 1,800
- Whole-exome sequencing (fetus only): USD 1,800 – 2,800
- Trio-based exome analysis (fetus + parents): USD 2,500 – 4,000
- Comprehensive cardiac genetic care package (includes counseling & imaging): USD 3,000 – 5,000
Korean hospitals offer comprehensive genetic packages that combine fetal cardiac imaging, molecular testing, and multidisciplinary counseling for complete prenatal evaluation.
Popular Hospitals and Centers in Korea
- Asan Medical Center (Seoul): Renowned for fetal cardiac genomics and prenatal heart diagnostics.
- Samsung Medical Center (Seoul): Offers advanced fetal heart gene panels and trio sequencing services.
- Severance Hospital (Yonsei University Health System): Specializes in congenital cardiac genetic research and prenatal cardiology.
- CHA Bundang Women’s Hospital: Integrates high-risk pregnancy care with genetic heart mutation analysis.
- MizMedi Women’s Hospital: Provides accessible fetal cardiac mutation testing with maternal counseling support.
