Treatment Overview
Invasive Prenatal Genetic Diagnosis refers to advanced medical procedures that obtain fetal cells directly from the uterus to perform detailed genetic and chromosomal testing. These diagnostic techniques are essential for high-risk pregnancies, especially when screening results, family history, or ultrasound findings indicate possible genetic abnormalities.
In Korea, women’s hospitals and maternal-fetal medicine centers are recognized for their exceptional expertise in invasive prenatal diagnostics such as amniocentesis, chorionic villus sampling (CVS), and cordocentesis. These procedures are performed using ultrasound-guided precision techniques to ensure safety and accuracy.
The collected fetal cells undergo cutting-edge laboratory testing, including karyotyping, chromosomal microarray (CMA), fluorescence in situ hybridization (FISH), and next-generation sequencing (NGS), allowing early detection of chromosomal abnormalities and genetic syndromes.
Korea’s combination of advanced medical technology, skilled specialists, and integrated maternal-fetal care makes it a world leader in safe, accurate, and compassionate prenatal genetic diagnosis.
Purpose & Benefits
Purpose:
- To confirm or rule out chromosomal abnormalities detected by screening (e.g., Down, Edwards, or Patau syndromes).
- To diagnose single-gene disorders and microdeletion/duplication syndromes.
- To provide accurate genetic information for high-risk pregnancies.
- To guide medical management, delivery planning, and postnatal care.
- To support family planning through detailed genetic counseling and recurrence-risk assessment.
Benefits:
- Definitive results: Provides diagnostic confirmation beyond screening-level tests.
- High accuracy: Near 100% detection rate for major chromosomal abnormalities.
- Early intervention: Enables proactive pregnancy and neonatal care planning.
- Advanced technology: Korean hospitals use the latest laboratory tools for rapid, precise analysis.
- Comprehensive insight: Can detect structural, chromosomal, and molecular-level abnormalities.
- Emotional reassurance: Gives families clarity and informed options during pregnancy.
Ideal Candidates
Invasive Prenatal Genetic Diagnosis is recommended for:
- Pregnant women aged 35 years or older.
- Couples with abnormal screening test results (NIPT, ultrasound, or biochemical tests).
- Parents with a family history of genetic disorders or chromosomal abnormalities.
- Pregnancies showing fetal structural anomalies on ultrasound (e.g., heart defects, neural tube abnormalities).
- Couples who have previous children with congenital or genetic conditions.
- Carriers of recessive or X-linked genetic mutations identified by carrier screening.
- Multiple pregnancies requiring precise fetal diagnosis.
Possible Risks & Considerations
- Invasive procedures carry a minimal risk of miscarriage (approximately 0.1–0.3%).
- Minor discomfort, mild cramping, or spotting may occur after the procedure.
- Infection or fluid leakage is rare but possible; close medical supervision minimizes these risks.
- Emotional stress may arise while awaiting results, so counseling and reassurance are provided.
- Korean hospitals use high-resolution ultrasound and sterile techniques to ensure maximum safety and success.
Overall, the safety rate of invasive prenatal genetic procedures in Korea is among the highest globally, supported by expert maternal-fetal specialists and advanced imaging guidance.
Medical & Diagnostic Techniques Used in Korea
Korea utilizes state-of-the-art technology and laboratory methods to achieve accurate genetic diagnosis from fetal samples.
Primary Diagnostic Procedures:
- Amniocentesis:
- Performed between 15 and 20 weeks of pregnancy.
- A small amount of amniotic fluid is drawn using an ultrasound-guided needle to analyze fetal cells.
- Used for karyotyping, chromosomal microarray (CMA), and single-gene testing.
- Chorionic Villus Sampling (CVS):
- Conducted between 10 and 13 weeks of pregnancy.
- Collects placental tissue containing fetal genetic material for early genetic analysis.
- Provides earlier results compared to amniocentesis.
- Cordocentesis (Fetal Blood Sampling):
- Performed after 18 weeks if fetal blood is required for specific genetic or hematologic evaluations.
- Used to diagnose blood disorders or confirm mosaicism.
Genetic Testing Methods Used on Samples:
- Karyotype Analysis: Detects large chromosomal abnormalities such as trisomies and translocations.
- Chromosomal Microarray (CMA): Identifies microdeletions and duplications invisible under standard microscopy.
- Fluorescence In Situ Hybridization (FISH): Rapid detection of specific chromosomal abnormalities.
- Next-Generation Sequencing (NGS): Detects single-gene disorders and rare mutations.
- Whole-Exome Sequencing (WES): Comprehensive evaluation of fetal genetic variants.
Korean laboratories integrate AI-based variant analysis systems to interpret complex results with unmatched accuracy.
Recovery & Aftercare
- Observation period: Patients typically rest for a short time after the procedure to monitor fetal heart rate and maternal comfort.
- Activity restriction: Light activity is allowed; strenuous exercise and lifting are avoided for 24–48 hours.
- Monitoring: Follow-up ultrasound ensures the fetus is safe and fluid levels remain normal.
- Result consultation: Results are usually available within 1–3 weeks, depending on the test type.
- Ongoing support: Genetic counseling and emotional care are integral parts of the aftercare process.
Korean hospitals prioritize patient comfort, offering both medical and psychological support following the diagnostic procedure.
Results & Longevity
- Definitive diagnosis: Confirms genetic conditions with high accuracy, unlike screening tests.
- Permanent clinical value: Results are relevant for current and future pregnancies.
- Informs perinatal care: Guides delivery location, timing, and postnatal treatment plans.
- Improved neonatal outcomes: Early preparation ensures specialized care for affected babies.
- Family planning insight: Helps assess recurrence risk and supports future pregnancy decisions.
Korean maternal-fetal specialists ensure families receive clear, compassionate explanations and long-term follow-up when needed.
Procedure Process in Korea
1. Pre-Test Consultation
A detailed session with a maternal-fetal medicine specialist and genetic counselor covers the purpose, risks, and expectations of invasive testing. Prior ultrasound or screening results are reviewed.
2. Ultrasound-Guided Sample Collection
Depending on gestational age, amniocentesis, CVS, or cordocentesis is performed under continuous ultrasound monitoring to ensure precision and fetal safety.
3. Laboratory Analysis
The collected sample undergoes genetic testing — including karyotype, CMA, FISH, or NGS — using state-of-the-art laboratory systems.
4. Interpretation and Counseling
Results are reviewed by a multidisciplinary team of geneticists, obstetricians, and laboratory experts. A counseling session helps families understand the results and possible implications.
5. Pregnancy Management & Follow-Up
If genetic abnormalities are detected, an individualized care plan is developed, including advanced monitoring, delivery planning, and neonatal care coordination.
Why Korea Is a Top Destination
- Expert maternal-fetal medicine specialists trained in invasive prenatal diagnostics.
- High procedural safety rates using ultrasound and sterile guidance systems.
- Integration of AI-based genomic interpretation for accuracy and rapid results.
- Comprehensive care programs combining testing, counselling, and obstetric management.
- Patient-centered approach focused on compassion, safety, and clear communication.
Unique Korean Methods & Technology
- Real-time 3D/4D ultrasound guidance for superior precision during invasive sampling.
- AI-driven genetic analysis integrated with national genomic databases.
- Rapid molecular testing protocols reducing waiting time for results.
- Multidisciplinary prenatal care units combining obstetrics, genetics, and neonatology under one program.
- Personalized pregnancy risk modeling to guide testing and management decisions.
Cost Range
The cost of Invasive Prenatal Genetic Diagnosis in Korea varies depending on the procedure type and genetic test performed:
- Amniocentesis with basic karyotyping: USD 700 – 1,000
- Chorionic villus sampling (CVS): USD 1,000 – 1,500
- CMA or FISH analysis: USD 1,200 – 2,000
- Next-generation sequencing (NGS) or WES: USD 2,000 – 4,000
- Comprehensive high-risk pregnancy genetic package (including counseling and imaging): USD 3,000 – 5,000
Most Korean hospitals offer integrated prenatal genetic care packages, which combine invasive diagnostics, ultrasound monitoring, and professional genetic counselling.
Popular Hospitals and Centers in Korea
- Asan Medical Center (Seoul): Recognized for leadership in invasive prenatal genetic testing and maternal-fetal diagnostics.
- Samsung Medical Center (Seoul): Offers advanced ultrasound-guided invasive testing with AI-based genetic analysis.
- Severance Hospital (Yonsei University Health System): Provides multidisciplinary care integrating genetics, obstetrics, and neonatal medicine.
- CHA Bundang Women’s Hospital: Specializes in high-risk pregnancy management and invasive genetic procedures.
- MizMedi Women’s Hospital: Offers safe, patient-centered invasive testing with comprehensive prenatal care support.
