Treatment Overview
Advanced Chromosomal Aneuploidy Screening is a state-of-the-art prenatal genetic test that evaluates fetal DNA to detect chromosomal abnormalities early in pregnancy. These abnormalities, known as aneuploidies, occur when there is an extra or missing chromosome — conditions such as Down syndrome (Trisomy 21), Edwards syndrome (Trisomy 18), and Patau syndrome (Trisomy 13) are among the most common.
In Korea, women’s hospitals and genetic laboratories offer next-generation sequencing (NGS)-based aneuploidy screening, providing exceptionally accurate and non-invasive results. The test uses a simple maternal blood sample to analyze fragments of fetal DNA circulating in the mother’s bloodstream (cell-free DNA).
Korea’s reputation for medical excellence, combined with cutting-edge genomic technology, ensures early, reliable, and safe chromosomal screening for expectant parents — setting a global benchmark in prenatal genetic care.
Purpose & Benefits
Purpose:
- To screen for major chromosomal aneuploidies (Trisomy 21, 18, 13).
- To detect sex chromosome abnormalities (Turner, Klinefelter, Triple X, XYY syndromes).
- To assess fetal sex, if desired.
- To identify potential microdeletions or duplications in specific genetic regions (depending on test type).
- To provide early reassurance or guide further diagnostic testing (CVS or amniocentesis).
Benefits:
- Highly accurate: Sensitivity above 99% for major chromosomal abnormalities.
- Non-invasive: Requires only a maternal blood draw, posing no risk to the fetus.
- Early detection: Can be performed as early as 10 weeks of pregnancy.
- Safe and convenient: No discomfort or recovery time required.
- Peace of mind: Offers early reassurance for expectant parents, reducing anxiety.
Ideal Candidates
Advanced chromosomal aneuploidy screening is suitable for all pregnant women but is especially recommended for those with increased genetic risk factors, including:
- Maternal age 35 or older.
- Abnormal ultrasound findings or biochemical screening results.
- Family history of chromosomal or genetic disorders.
- Previous pregnancy with chromosomal abnormality.
- IVF or assisted reproductive technology (ART) pregnancies.
- Multiple pregnancies (twins or more), if test type allows.
- Maternal health conditions (e.g., diabetes, hypertension) associated with higher pregnancy risks.
Possible Risks & Considerations
- The test is safe and non-invasive, with no risk to mother or baby.
- False positives or inconclusive results may occur in rare cases; follow-up diagnostic testing may be advised.
- Maternal or placental DNA factors (e.g., mosaicism) can occasionally affect accuracy.
- Not a diagnostic test: It is a screening tool — positive results require confirmation through procedures such as amniocentesis or chorionic villus sampling (CVS).
Korean genetic laboratories maintain strict international standards and accuracy controls, ensuring the highest reliability in prenatal DNA testing.
Medical & Diagnostic Techniques Used in Korea
Korea leads the region in advanced prenatal genetic screening technology, offering high sensitivity and precision through modern laboratory systems and automated bioinformatics.
Key Techniques and Technologies:
- Next-Generation Sequencing (NGS): Deep sequencing of cell-free fetal DNA in maternal blood to detect chromosomal abnormalities.
- Massively Parallel Sequencing (MPS): Analyzes millions of DNA fragments simultaneously for high-resolution chromosomal mapping.
- Digital PCR (Polymerase Chain Reaction): Used for fast, targeted detection of specific chromosomal aneuploidies.
- Bioinformatics Analysis Software: Korean laboratories utilize AI-driven algorithms to distinguish fetal and maternal DNA patterns.
- Expanded Microdeletion Panels: Optional screening for small chromosomal deletions linked to rare syndromes such as DiGeorge and Prader-Willi.
- Maternal-Fetal DNA Fraction Analysis: Ensures fetal DNA concentration is sufficient for accurate interpretation.
This combination of precision sequencing and AI-supported analytics makes Korea one of the top global destinations for advanced prenatal genetic screening.
Recovery & Aftercare
- No recovery time required: The test involves a simple blood draw.
- Results availability: Typically within 5 to 10 days.
- Follow-up consultation: Doctors review results with expectant parents, explaining findings and any next steps.
- Further testing: If abnormalities are detected, diagnostic procedures such as amniocentesis or CVS are offered.
- Emotional and genetic counseling: Provided by specialists to help parents understand results and options clearly.
Korean hospitals emphasize compassionate communication, confidentiality, and patient education throughout the genetic testing process.
Results & Longevity
- Accurate and reliable outcomes: Detects over 99% of common trisomies with very low false-positive rates.
- Early insight: Identifies risks long before anatomical anomalies appear on ultrasound.
- Supports personalized prenatal care: Enables tailored monitoring and delivery planning.
- Long-term family benefit: Helps parents prepare emotionally, medically, and logistically for the baby’s health needs.
The test’s precision ensures that families receive trusted information early in pregnancy, supporting peace of mind and informed decision-making.
Procedure Process in Korea
1. Pre-Test Consultation
The obstetrician or genetic counselor explains the purpose, process, and scope of the screening, reviewing maternal history and risk factors.
2. Blood Collection
A small blood sample is drawn from the mother’s arm. No fasting or special preparation is required.
3. Laboratory DNA Extraction & Sequencing
Fetal cell-free DNA (cfDNA) is isolated from the maternal blood sample. Advanced sequencing and bioinformatics analysis are performed to detect chromosomal irregularities.
4. Results Interpretation
A detailed report is generated and reviewed by medical geneticists. Results include chromosomal risk status and optional fetal sex information.
5. Counselling & Follow-Up
Results are explained during a consultation. If abnormalities are detected, further diagnostic options and care plans are discussed.
Why Korea Is a Top Destination
- Advanced molecular genetics laboratories equipped with next-generation sequencing systems.
- Extremely high accuracy rates validated by international research standards.
- Integration of genetic counseling with obstetric and perinatal care.
- Comprehensive prenatal programs combining ultrasound, DNA testing, and fetal health assessments.
- Ethical, patient-centered approach ensuring comfort and confidentiality.
Unique Korean Methods & Technology
- AI-integrated sequencing analytics improving detection reliability and turnaround speed.
- Expanded NIPT (Non-Invasive Prenatal Testing) panels covering over 20 chromosomal conditions.
- Customized testing packages for high-risk, IVF, or twin pregnancies.
- Integration with national health data systems for continuous pregnancy management.
Cost Range
The cost of Advanced Chromosomal Aneuploidy Screening in Korea varies depending on test type, hospital, and additional panels included:
- Standard aneuploidy screening (Trisomy 21, 18, 13): USD 400 – 700
- Extended NIPT with sex chromosome and microdeletion analysis: USD 700 – 1,200
- Comprehensive fetal genome screening (advanced package): USD 1,200 – 2,000
- High-risk pregnancy genetic package (includes ultrasound & consultation): USD 1,500 – 2,500
Korean hospitals offer bundled prenatal care plans that combine ultrasound, aneuploidy screening, and follow-up counseling for comprehensive pregnancy management.
Popular Hospitals and Centers in Korea
- Asan Medical Center (Seoul): Leader in prenatal genetic testing and fetal DNA research.
- Samsung Medical Center (Seoul): Offers high-throughput sequencing and comprehensive aneuploidy analysis.
- Severance Hospital (Yonsei University Health System): Specializes in advanced prenatal diagnostics and genetic counseling.
- CHA Bundang Women’s Hospital: Provides full genetic screening packages for IVF and high-risk pregnancies.
- MizMedi Women’s Hospital: Focuses on non-invasive genetic testing integrated with early ultrasound care.
