Treatment Overview
Chromosomal Karyotype Analysis (also called cytogenetic karyotyping) is a laboratory test that examines the number, structure, and arrangement of chromosomes in a person’s cells. In the context of recurrent pregnancy loss (RPL), this test is used on either partner (or both) to detect large-scale chromosomal abnormalities—such as translocations, inversions, or aneuploidies—that may contribute to miscarriages. The test typically involves drawing a sample of peripheral blood, culturing lymphocytes to induce cell division, arresting cells in metaphase, staining chromosomes, photographing them under a microscope, and then arranging and analyzing the displayed karyotype.
In Korea, fertility and genetic diagnostic centers perform karyotype analysis using high-resolution cytogenetic laboratories, experienced cytogeneticists, and digital imaging systems to ensure accurate detection of structural anomalies or balanced rearrangements.
Purpose & Benefits
- To identify chromosomal abnormalities in either partner that may underlie recurrent miscarriage (for example, balanced translocations or inversions).
- To explain otherwise unexplained pregnancy loss or infertility by revealing a genetic cause.
- To guide reproductive decision-making (e.g. use of assisted reproduction, donor gametes, or PGT).
- To reduce the risk of future miscarriage by selecting unaffected embryos or avoiding passing on a chromosomal imbalance.
- To enable genetic counseling—informing patients of recurrence risks and reproductive options.
Ideal Candidates
Karyotype analysis is especially recommended for:
- Couples with two or more consecutive pregnancy losses (or three nonconsecutive).
- Individuals with a history of chromosomally abnormal fetuses or infants.
- Patients with repeated IVF failures or implantation failures with no other identifiable cause.
- Couples considering assisted reproductive techniques (IVF, donor gametes) who want to rule out chromosomal causes.
- Families with known translocation carriers or chromosomal rearrangements.
Possible Risks & Complications
- The procedure itself involves only a blood draw, so physical risk is minimal: slight pain, bruising, or swelling at the needle site.
- Rare risk of infection at the puncture site.
- Emotional stress or anxiety if an abnormality is found.
- Detection of variants of uncertain significance which may complicate counseling.
- The possibility that mosaicism or subtle chromosomal defects may go undetected (since karyotyping resolution is limited to larger structural changes).
(Laboratory) Techniques Used
Though not surgical, karyotype analysis relies on several specialized laboratory methods:
- Collection of peripheral blood and isolation of lymphocytes.
- Cell culture and stimulation so that cells enter mitosis.
- Use of mitogens (e.g. phytohemagglutinin) to encourage proliferation.
- Colcemid or similar agents to arrest cells in metaphase.
- Hypotonic treatment, fixation, and chromosome spreading.
- G-banding (or other banding techniques) to stain chromosomes and reveal banding patterns.
- Microscopy with high-resolution digital imaging and analysis software.
- Interpretation by cytogenetic experts to identify abnormalities (e.g. translocations, deletions, duplications, inversions, aneuploidy).
- Reporting as standard human karyotype (e.g. 46,XX or 46,XY plus any anomalies).
Korean cytogenetic laboratories typically use advanced imaging systems, automated metaphase finders, and digital karyotyping software for enhanced accuracy and throughput.
Recovery & Aftercare
Because karyotype analysis only requires a blood draw, no recovery is needed. Aftercare consists of:
- Monitoring the puncture site for minor bruising or discomfort (generally self-resolving).
- Following up with the physician or genetic counselor to review results.
- If an abnormality is found, receiving genetic counseling about reproductive options, risks, and interventions.
- Planning further steps in fertility treatment or assisted reproduction, incorporating the karyotype findings.
Results & Longevity
- A normal karyotype suggests that large-scale chromosomal abnormalities are unlikely to be the cause of miscarriage.
- An abnormal karyotype (for instance, balanced translocation) can explain recurrent loss and inform recurrence risk (which may be elevated in future pregnancies).
- Once a karyotype is established, its validity persists indefinitely—chromosomal structure in somatic cells remains stable over time.
- The information gained can guide long-term reproductive strategy, such as the use of preimplantation genetic testing (PGT), donor gametes, or selective embryo transfer.
- Couples with known chromosomal rearrangements can use this information in every subsequent pregnancy attempt.
Treatment Process In Korea
Karyotype testing as part of RPL evaluation in Korean fertility settings generally follows this workflow:
- Consultation & History Taking: Review miscarriage history, family genetic history, prior fertility workup.
- Blood Sampling: Venous blood is drawn under sterile conditions.
- Laboratory Processing: The sample is sent to a cytogenetics lab for culture, metaphase preparation, staining, imaging, and analysis.
- Analysis & Interpretation: Cytogeneticists scrutinize the karyotype, comparing banding patterns, checking for structural aberrations or numerical anomalies.
- Report Issued: The genetic report is delivered with notation of normal or abnormal findings and recommendations.
- Genetic Counseling & Treatment Planning: If abnormalities are found, patients meet with genetic counselors to discuss implications and options (e.g. PGT, donor gametes).
- Integration into Fertility Strategy: The karyotype result guides subsequent IVF protocols, donor selection, or embryonic genetic testing.
Korean fertility centers stand out through:
- High-quality cytogenetic labs embedded within fertility hospitals
- Digital imaging and automated metaphase detection systems ensuring speed and precision
- Close coordination between fertility specialists, geneticists, and counseling teams
- Regulatory oversight and standardization of genetic testing quality
- A strong track record in integrating karyotype analysis with advanced reproductive medicine services
Cost Range
The cost of chromosomal karyotype analysis in Korea for fertility or RPL evaluation typically falls within:
- Basic karyotype test (standard 20-cell analysis): USD 150 – 400
- High-resolution or extended cytogenetic analysis (additional cells, detailed banding): USD 300 – 700
- Genetic counseling or follow-up interpretation sessions: additional USD 100 – 300
Many fertility centers bundle karyotype testing into RPL evaluation packages, which include hormonal, anatomical, and immunologic tests.
Popular Clinics (in Korea)
Some fertility, OB/GYN, and genetic centers in Korea known for integrating diagnostics, genetics, and infertility services—hence likely performing karyotype analysis—include:
- CHA Fertility Center (Seoul): A major fertility network offering genetic services including PGT.
- Hamchoon Women’s Clinic (Seoul): Specializes in infertility and genetic testing, with its own genetics laboratory.
- Large academic medical centers with reproductive medicine and genetics departments (e.g. university hospitals) that combine cytogenetics with fertility care.
- Fertility hospitals that host full-service genetic labs as part of their infrastructure.
