Treatment Overview
Fetal Micro-deletion and Micro-duplication Syndrome Test in Korea are chromosomal disorders that involve the loss (deletion) or gain (duplication) of small segments of DNA—often less than 5 megabases—which can affect gene dosage and lead to congenital anomalies, developmental delays, or other health issues.
In the context of prenatal care, testing for these CNVs allows detection of sub-microscopic genetic changes not seen on standard karyotype. This is especially important in high-risk pregnancies where ultrasound findings or prior history raise concern.
In Korea, leading women’s hospitals and genetic diagnostic centres offer advanced prenatal micro-deletion/duplication screening using techniques such as chromosomal microarray (CMA), SNP arrays, and next-generation sequencing (NGS) based CNV detection. These tests are integrated into high-risk pregnancy programmes for early detection and management of potential fetal genetic conditions.
Purpose & Benefits
Purpose:
- Detect fetal micro-deletions or micro-duplications that may explain congenital anomalies or growth abnormalities.
- Provide a more detailed genomic assessment when structural ultrasound findings or previous genetic screening raise suspicion.
- Guide obstetric, neonatal and genetic counselling decisions based on genomic risk profiles.
- Assist in delivery planning and neonatal resource preparation when a significant CNV is detected.
Benefits:
- Enhanced diagnostic resolution compared to standard karyotype—can detect smaller chromosomal changes.
- Enables earlier intervention planning (e.g., referral to neonatology, paediatric cardiology, or other specialties).
- Improves parental counselling, allowing families to understand potential outcomes and options.
- In Korea, integration with maternal-fetal medicine units means genetic findings feed directly into prenatal monitoring and delivery management.
Ideal Candidates
This testing is especially recommended for pregnancies with any of the following:
- Abnormal structural findings on fetal ultrasound (e.g., heart defect, growth restriction, ventriculomegaly, skeletal anomaly).
- Previous child or family member with a known micro-deletion/micro-duplication syndrome.
- High-risk screening result (such as abnormal NIPT or maternal age + ultrasound findings) but normal karyotype.
- Fetuses with unexplained anomalies after standard genetic workup.
- Multiple gestation pregnancies or pregnancies complicated by other high-risk factors that merit advanced genomic assessment.
Possible Risks & Considerations
- The genetic test itself is non-invasive if done via maternal blood cell-free DNA (for some screening types), or minimally invasive if done via amniocentesis/CVS for confirmatory CMA. The procedural risk lies in the invasive sample collection, not the genomic analysis.
- Detection of a CNV may produce uncertain counselling outcomes—some duplications/deletions have variable expressivity or incomplete penetrance, and prognostic certainty may be limited.
- False negatives may occur especially for very small CNVs or mosaicism. Some screening methods (e.g., expanded NIPT for CNVs) have lower sensitivity for small fragments. BioMed Central
- Emotional and ethical implications: families may face complex decisions based on findings that carry uncertain outcomes. Genetic counselling is essential.
Medical & Diagnostic Techniques Used in Korea
- Chromosomal Microarray Analysis (CMA): The standard diagnostic tool for detecting CNVs prenatally, replacing many conventional karyotypes in high-risk settings.
- Single Nucleotide Polymorphism (SNP) Array: Enhances resolution and can detect loss of heterozygosity, uniparental disomy, and smaller CNVs.
- Next-Generation Sequencing (NGS) panels / low-pass whole-genome sequencing for CNV detection: Some Korean centres use NGS read-depth algorithms to identify duplications/deletions.
- Expanded non-invasive prenatal testing (NIPT-PLUS) for CNVs: Some screening labs offer maternal plasma cfDNA-based CNV detection, though sensitivity for small fragments remains less assured.
- Integrated maternal-fetal medicine coordination: Genetic results are paired with ultrasound, Doppler, and fetal monitoring in high-risk pregnancy units to craft personalised care plans.
Recovery & Aftercare
- If only a maternal blood sample is taken, there is no recovery time. If invasive amniocentesis/CVS is performed, after-care follows standard prenatal invasive procedure protocols (monitoring, rest, etc.).
- Results are typically delivered in 1–3 weeks depending on the complexity of the CNV analysis.
- Post-result counselling: A genetic counsellor reviews the findings, explains the nature of the CNV, associated risks, possible outcomes, and management options.
- Multidisciplinary follow-up: High-risk pregnancy team may schedule additional ultrasounds, fetal echocardiography, or delivery planning based on the genetic finding.
- After birth, if a CNV is confirmed, neonatal assessment and possible early intervention (cardiology, neurology, developmental services) are initiated.
Results & Longevity
- A confirmed micro-deletion/micro-duplication provides a clear diagnosis that may explain fetal anomalies and guide management.
- Genetic findings may influence the timing, mode and facility of delivery (e.g., tertiary centre with neonatal specialists) and neonatal care plans.
- Long-term value: Knowledge of the CNV can inform future family planning, recurrence risk, and may guide postnatal monitoring of the child.
- Many of these syndromes have lifelong implications (developmental delays, congenital defects, learning disabilities), so early detection supports better outcomes.
Procedure Process in Korea
1. Pre-Test Genetic and Maternal-Fetal Consultation
High-risk pregnancy specialists and genetic counsellors review ultrasound findings, previous screening results, maternal/fetal history and discuss the CNV test’s scope, benefits, limitations and possibilities.
2. Sample Collection
Depending on indication:
- For screening: maternal blood draw for cfDNA (if applicable).
- For diagnostic confirmation: amniocentesis (~15–20 weeks) or chorionic villus sampling (CVS) (~11–14 weeks) under ultrasound guidance.
3. Laboratory Analysis
DNA is extracted from fetal cells (or cfDNA). CMA/SNP array or NGS read-depth sequencing is performed. Bioinformatics pipelines identify deletions or duplications, quantify breakpoint size and assess gene content.
4. Result Interpretation
A multidisciplinary team (geneticist, maternal-fetal specialist) reviews CNV findings, matches with ultrasound phenotypes, and classifies variants (pathogenic, likely pathogenic, VUS, likely benign) based on up-to-date databases and Korean/Asian population data.
5. Counselling & Management Planning
Parents receive a detailed report, counselling and a care plan: increased fetal monitoring, delivery at a tertiary centre, neonatal specialist referral, or continuation with standard monitoring if the variant is low-risk.
Why Korea Is a Top Destination
- Leading-edge genomic diagnostic laboratories offering high-resolution CMA/NGS with fast turnaround.
- Maternal-fetal medicine centres with international accreditation and multilingual services for global patients.
- Comprehensive integrated care: ultrasound specialists, geneticists, neonatologists, and counsellors collaborate seamlessly.
- High standards of prenatal care and patient experience, including comfort, privacy and support for international patients.
Unique Korean Methods & Technology
- Advanced bioinformatics pipelines and AI-assisted variant interpretation tailored to Asian genomic reference data.
- Ability to combine CMA/NGS CNV findings with real-time ultrasound and Doppler imaging for richer prenatal decision-making.
- High-volume experience in high-risk pregnancies and prenatal genetics, leading to refined protocols and outcomes.
Cost Range
The cost for Fetal Micro-deletion / Micro-duplication Syndrome Testing in Korea varies by hospital level, test complexity and whether invasive sample collection is needed:
- Screening via extended cfDNA for CNVs: USD ~500 – 1,000
- Diagnostic CMA/SNP array following abnormal ultrasound: USD ~1,000 – 2,000
- High-risk package including invasive sampling, genetic counselling, CMA/NGS CNV analysis: USD ~2,000 – 3,500
(Remarks: International patient packages may include additional services such as translation, accommodation coordination, and pre-/post-test counselling.)
