Karyotyping - Blood (Child)

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Used in the diagnosis of genetic diseases, infertility, recurrent miscarriages, birth defects, and hematologic malignancies

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Karyotyping - Blood (Child)

Why is it done?
- Detects chromosomal abnormalities by visualizing the complete set of chromosomes in a child's cells to identify structural or numerical defects
- Diagnosing genetic disorders such as Down syndrome (Trisomy 21), Edwards syndrome (Trisomy 18), Patau syndrome (Trisomy 13), and Turner syndrome
- Evaluating developmental delays, intellectual disabilities, or multiple congenital anomalies of unknown origin
- Investigating growth disorders or sexual development abnormalities
- Assessing recurrent miscarriages or infertility in the context of inherited chromosomal rearrangements
- Ordering when abnormal prenatal screening results are identified or family history suggests chromosomal disease
- Performed during childhood when clinical suspicion arises or as follow-up to other diagnostic testing
Normal Range
- Normal result: 46 chromosomes with normal structure and banding pattern (46,XX for females or 46,XY for males)
- Reference standard: All 22 pairs of autosomes appear structurally normal with appropriate banding patterns recognizable under microscopy
- Sex chromosomes: Normal females have two X chromosomes (XX), normal males have one X and one Y chromosome (XY)
- Interpretation: Normal result indicates no numerical chromosomal abnormalities or gross structural rearrangements detected
- Abnormal results include: Trisomies (extra chromosome), monosomies (missing chromosome), translocations, deletions, or other structural rearrangements
- Units: Karyotype is expressed as chromosome number and nomenclature describing specific abnormality present
Interpretation
- 46,XX or 46,XY (Normal): Two copies of each autosome with normal morphology and one pair of sex chromosomes appropriate for genetic sex
- 47,XX+21 or 47,XY+21 (Down Syndrome): Three copies of chromosome 21, typically resulting in intellectual disability, characteristic facial features, and congenital heart defects
- 47,XX+18 or 47,XY+18 (Edwards Syndrome): Three copies of chromosome 18; severe developmental abnormalities and often fatal in infancy
- 47,XX+13 or 47,XY+13 (Patau Syndrome): Three copies of chromosome 13; multiple congenital anomalies including holoprosencephaly and cleft palate
- 45,X (Turner Syndrome): Single X chromosome; short stature, gonadal dysgenesis, and cardiac abnormalities in females
- 47,XXY or 47,XYY (Klinefelter or Jacob's Syndrome): Extra sex chromosome resulting in infertility and developmental concerns in males
- Balanced translocations: Rearranged chromosomal material but no net loss or gain; usually phenotypically normal but carrier risk for unbalanced offspring
- Unbalanced rearrangements: Loss or gain of genetic material resulting in developmental delay, growth abnormalities, or multiple congenital anomalies
- Mosaic patterns: Different cell lines with different karyotypes; severity depends on proportion of abnormal cells and specific abnormality involved
- Factors affecting interpretation: Cell culture quality, resolution of banding technique, sample adequacy, and presence of mosaicism may influence results
Associated Organs
- Primary systems: Chromosomal abnormalities affect all organ systems as they involve fundamental genetic material affecting cellular development and function throughout the body
- Central nervous system: Intellectual disability, developmental delay, seizures, hypotonia, and brain structural abnormalities common in chromosomal disorders
- Cardiovascular system: Congenital heart defects including ventricular septal defects, atrial septal defects, and complex cardiac malformations frequently associated with trisomies
- Reproductive system: Gonadal dysgenesis, underdeveloped reproductive organs, and infertility seen in Turner syndrome and other sex chromosome abnormalities
- Skeletal system: Growth restriction, characteristic facial features, limb abnormalities, and digital anomalies associated with specific chromosomal syndromes
- Gastrointestinal system: Esophageal atresia, duodenal atresia, and other structural abnormalities of the digestive tract in chromosome abnormality syndromes
- Associated diseases: Down syndrome, Edwards syndrome, Patau syndrome, Turner syndrome, Klinefelter syndrome, DiGeorge syndrome, Williams syndrome, and Prader-Willi syndrome
- Potential complications: Increased risk of infections, leukemia and other malignancies, thyroid disease, hearing loss, vision impairment, and reduced life expectancy depending on specific abnormality
Follow-up Tests
- Fluorescence in situ hybridization (FISH): May be ordered for rapid detection of specific chromosomal abnormalities such as Down syndrome or microdeletion/microduplication syndromes
- Chromosomal microarray (Array CGH): Detects submicroscopic deletions and duplications not visible on standard karyotyping with higher resolution
- Parental karyotyping: Recommended when balanced chromosomal rearrangement or translocation detected to assess recurrence risk and family implications
- Developmental assessment: Psychological and neuropsychological testing for children with confirmed chromosomal abnormalities to establish baseline and plan interventions
- Echocardiography: Essential screening for children with Down syndrome or other trisomies to detect congenital heart defects early
- Hearing assessment: Audiometry testing recommended for chromosomal abnormalities associated with conductive or sensorineural hearing loss
- Ophthalmologic evaluation: Eye examination to screen for refractive errors, strabismus, cataracts, and other vision abnormalities
- Thyroid screening: TSH and free T4 for children with Down syndrome and other chromosomal abnormalities predisposed to thyroid dysfunction
- Genetic counseling: Strongly recommended following any abnormal karyotype to discuss implications, inheritance patterns, and reproductive risks
- Monitoring frequency: Repeat testing rarely needed for constitutional karyotype; clinical monitoring continues throughout childhood and adolescence based on diagnosis
Fasting Required?
- Fasting: No - Karyotyping does not require fasting as it analyzes blood cells for chromosomal content, which is not affected by food intake
- Sample collection: Child may eat and drink normally before blood draw; no special dietary restrictions apply
- Medications: No medications need to be held or avoided for karyotyping test; continue all routine medications as prescribed
- Patient preparation: Minimal preparation required; child should be calm and comfortable for blood draw which involves venipuncture
- Special instructions: Blood sample must be collected in sterile collection tube with appropriate preservative medium for cell culture
- Timing considerations: Sample should be processed promptly after collection as cell viability is important for successful culture and analysis
- Infections or illness: Test may be postponed if child has acute febrile illness as fever can transiently affect lymphocyte function, though chromosomes themselves are unaffected
- Recent transfusions: Blood transfusions within prior 4 weeks may interfere with results if donor cells are present; communicate transfusion history to laboratory

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