Karyotyping - POC

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Chromosomal analysis.

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Karyotyping - POC (Point of Care)

Why is it done?
- Detects chromosomal abnormalities and genetic disorders by analyzing the complete set of chromosomes in a cell, providing rapid point-of-care results for clinical decision-making
- Evaluates suspected chromosomal disorders including trisomies (Down syndrome, Edwards syndrome, Patau syndrome), Turner syndrome, Klinefelter syndrome, and other aneuploidy conditions
- Used in prenatal screening programs for pregnant women at increased risk due to advanced maternal age, abnormal ultrasound findings, or positive biochemical markers
- Performs post-natal diagnosis in infants and children presenting with developmental delay, intellectual disability, dysmorphic features, or growth abnormalities
- Investigates recurrent pregnancy loss or recurrent miscarriages to identify chromosomal imbalances in parental samples
- Enables rapid results at the point of care, allowing for timely clinical management and informed decision-making without waiting for laboratory-based analysis
Normal Range
- Normal Karyotype: 46,XX (females) or 46,XY (males) - indicates 46 chromosomes total (23 pairs) with normal number and structure
- Unit of Measurement: Chromosome count and morphology reported numerically and descriptively
- Negative Result: No chromosomal abnormalities detected; normal diploid karyotype with 23 homologous chromosome pairs
- Positive Result: Chromosomal abnormality detected, such as trisomy (extra chromosome), monosomy (missing chromosome), or structural rearrangement
- Reference Range Notation: Results are expressed using the International System for Human Cytogenetic Nomenclature (ISCN) which provides standardized chromosome notation and description
Interpretation
- Normal Result (46,XX or 46,XY): No chromosomal abnormalities; reduces likelihood of chromosomal genetic disorders; requires consideration of other genetic or non-genetic causes if clinical features persist
- Trisomy 21 (Down Syndrome) - 47,XX,+21 or 47,XY,+21: Extra copy of chromosome 21; associated with intellectual disability, characteristic facial features, congenital heart defects, and increased risk of health complications
- Trisomy 18 (Edwards Syndrome) - 47,XX,+18 or 47,XY,+18: Extra copy of chromosome 18; severe developmental abnormalities, intellectual disability, congenital heart disease, and typically fatal in infancy
- Trisomy 13 (Patau Syndrome) - 47,XX,+13 or 47,XY,+13: Extra copy of chromosome 13; severe birth defects including cleft palate, cardiac defects, polydactyly, and profound intellectual disability with poor prognosis
- Turner Syndrome - 45,X: Complete or partial monosomy of X chromosome in females; short stature, infertility, cardiac and renal abnormalities, and characteristic facial features
- Klinefelter Syndrome - 47,XXY: Extra X chromosome in males; infertility, reduced testosterone production, tall stature, and potential for learning difficulties
- Structural Abnormalities: Deletions, duplications, translocations, or inversions result in unbalanced genetic material; clinical severity depends on size and gene content of rearranged segments
- Mosaic Patterns: Presence of two or more cell lines with different karyotypes; severity varies depending on proportion of abnormal cells and tissues affected
- Factors Affecting Results: Quality of specimen, cell culture viability, contamination, technical accuracy, and sample timing; POC methods may have variable detection rates for low-level mosaicism
Associated Organs
- Primary Systems Affected: Central nervous system (developmental delay, intellectual disability), cardiovascular system (congenital heart defects), musculoskeletal system (growth abnormalities), and reproductive system (fertility issues)
- Conditions Associated with Abnormal Results: Down syndrome (trisomy 21), Edwards syndrome (trisomy 18), Patau syndrome (trisomy 13), Turner syndrome, Klinefelter syndrome, DiGeorge syndrome (22q11 deletion), Williams syndrome, Prader-Willi syndrome, and Angelman syndrome
- Cardiac Manifestations: Congenital heart disease (atrial septal defect, ventricular septal defect, atrioventricular canal defect, tetralogy of Fallot) commonly associated with chromosomal abnormalities
- Neurological Complications: Intellectual disability ranging from mild to severe, seizure disorders, autism spectrum disorders, behavioral abnormalities, and developmental delays
- Reproductive System Issues: Infertility, sexual development disorders, gonadal dysgenesis, and increased risk of pregnancy complications or miscarriage
- Additional System Involvement: Gastrointestinal abnormalities (cleft palate, intestinal atresia), renal dysfunction, visual and hearing impairment, immunodeficiency, and increased cancer predisposition
Follow-up Tests
- Fluorescence In Situ Hybridization (FISH): Rapid confirmation of specific chromosomal abnormalities with higher resolution and faster turnaround time for common aneuploidies
- Chromosomal Microarray Analysis (CMA): Detects submicroscopic deletions and duplications with higher resolution than traditional karyotyping for more comprehensive genomic assessment
- Whole Exome or Genome Sequencing (WES/WGS): Identifies single-gene mutations and provides comprehensive genetic profiling when chromosomal analysis is normal but clinical suspicion remains high
- Parental Karyotyping: Recommended when offspring shows balanced structural abnormality to identify if parent carries balanced translocation or rearrangement
- Cardiac Ultrasound or Echocardiography: Evaluate for congenital heart defects commonly associated with chromosomal abnormalities in affected individuals
- Developmental and Neurological Assessment: Comprehensive evaluation of developmental milestones, cognitive function, and potential seizure disorders with appropriate imaging (MRI/CT) as indicated
- Hearing and Vision Screening: Audiology assessment and ophthalmology evaluation to detect sensory impairments commonly associated with genetic syndromes
- Genetic Counseling: Ongoing counseling for patient and family regarding prognosis, management options, reproductive implications, and inheritance patterns
- Monitoring Frequency: Ongoing multidisciplinary follow-up based on clinical presentation; annual medical evaluation recommended for individuals with chromosomal abnormalities
Fasting Required?
- Fasting Required: NO - Fasting is not required for karyotyping analysis
- Sample Collection: Blood sample (peripheral blood lymphocytes) collected in heparin or EDTA tube; amniotic fluid, chorionic villus sampling (CVS), or tissue samples may be used for prenatal diagnosis
- Patient Preparation Requirements: No special preparation needed; patient may eat and drink normally; routine venipuncture precautions apply
- Medications to Avoid: No specific medications need to be discontinued; however, report use of immunosuppressive agents or recent chemotherapy to laboratory as these may affect cell culture quality
- Additional Instructions: Ensure proper labeling of specimen with patient identifiers; note relevant clinical information and indication for testing; for prenatal samples, specify gestational age and collection method; deliver specimens promptly to laboratory within acceptable time frame (typically 24-48 hours)

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