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Neonatal blood Aneuploidy screening - FISH 3 probes ( 18, X & Y)
Blood
Report in 48Hrs
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No Fasting Required
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Chromosomal abnormality detection.
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Neonatal Blood Aneuploidy Screening - FISH 3 Probes (18, X & Y)
- Why is it done?
- Detects chromosomal abnormalities involving chromosome 18, X chromosome, and Y chromosome using Fluorescence In Situ Hybridization (FISH) technology
- Primary indications include screening for trisomy 18 (Edwards syndrome), trisomy X (Triple X syndrome), and sex chromosome disorders including XYY and Klinefelter syndrome
- Typically performed on newborns as part of expanded newborn screening programs within 24-48 hours after birth
- Recommended when prenatal screening shows elevated risk markers or when positive results are obtained from initial newborn screening tests
- Used to provide rapid confirmation or exclusion of chromosomal abnormalities with results typically available within 24-48 hours
- Normal Range
- Normal Results: Two copies of chromosome 18 (disomic), one X chromosome in females (monosomic X negative), and normal sex chromosome complement
- Normal Female Pattern: 2 copies of chromosome 18, 2 copies of X chromosome, 0 copies of Y chromosome (46,XX)
- Normal Male Pattern: 2 copies of chromosome 18, 1 copy of X chromosome, 1 copy of Y chromosome (46,XY)
- Abnormal Positive Results: Additional or missing copies of probed chromosomes indicating trisomy 18, sex chromosome aneuploidy, or monosomy X
- Units: Number of chromosomal copies detected per cell (typically reported as signal count and genetic interpretation)
- Interpretation
- Negative Result (Normal): Indicates absence of trisomy 18, monosomy X, and other sex chromosome abnormalities detected by the 3 probes; no evidence of the screened chromosomal abnormalities
- Positive Result - Trisomy 18: Three copies of chromosome 18 detected; associated with Edwards syndrome characterized by severe developmental abnormalities, intellectual disability, cardiac defects, and poor prognosis
- Positive Result - Trisomy X: Three X chromosomes in a female (47,XXX); may result in tall stature, developmental delays, and learning difficulties
- Positive Result - XYY Syndrome: Two Y chromosomes in a male (47,XYY); often associated with tall stature and developmental delays; generally milder phenotype
- Positive Result - Monosomy X: Single X chromosome (45,X); Turner syndrome; associated with short stature, cardiac abnormalities, gonadal dysgenesis, and developmental features
- Positive Result - Klinefelter Syndrome: Two X chromosomes and one Y chromosome in males (47,XXY); associated with tall stature, developmental delays, and infertility
- Factors Affecting Results: Sample quality and cell viability, maternal cell contamination, mosaicism (where some cells carry abnormality and others do not), technical artifacts, and timing of sample collection
- Clinical Significance: Rapid diagnosis allows for early clinical management, genetic counseling, and family planning decisions; results must be confirmed with karyotyping or chromosomal microarray for definitive diagnosis
- Associated Organs
- Primary Organ Systems: Chromosomal abnormalities affect multiple organ systems including central nervous system, cardiovascular system, musculoskeletal system, and reproductive organs
- Trisomy 18 (Edwards Syndrome) Complications: Cardiac defects (ventricular septal defects, atrial septal defects), renal abnormalities, cleft palate, severe intellectual disability, seizures, growth restriction, and poor survival rates
- Trisomy X (Triple X Syndrome) Complications: Developmental delays, learning disabilities, increased height, premature ovarian failure, increased risk for behavioral and psychiatric conditions
- XYY Syndrome Complications: Increased height, developmental delays, possible increased risk for learning difficulties and behavioral issues, usually normal fertility
- Monosomy X (Turner Syndrome) Complications: Short stature, cardiac defects (bicuspid aortic valve, aortic coarctation), renal abnormalities, gonadal dysgenesis, infertility, hearing loss, intellectual disability variable
- Klinefelter Syndrome (47,XXY) Complications: Increased height, developmental delays, learning difficulties, reduced testosterone production, infertility, increased risk for metabolic syndrome
- Associated Diseases and Conditions: Chromosomal aneuploidy, developmental delay, intellectual disability, congenital heart disease, cryptorchidism, hypogonadism, and various syndromic presentations
- Follow-up Tests
- Confirmatory Testing: Karyotyping (gold standard for chromosome analysis) to confirm FISH results and detect additional chromosomal abnormalities
- Chromosomal Microarray Analysis (CMA): Comprehensive detection of submicroscopic deletions and duplications; higher resolution than karyotyping
- Whole Genome Sequencing (WGS) or Whole Exome Sequencing (WES): May be performed for comprehensive genetic analysis if additional genetic causes suspected
- Echocardiography: Evaluation for cardiac defects associated with chromosomal abnormalities, particularly in trisomy 18 and Turner syndrome
- Renal Ultrasound: Assessment for renal abnormalities commonly associated with chromosomal aneuploidy
- Auditory Assessment: Newborn hearing screening and follow-up audiology testing, particularly for Turner syndrome and trisomy 18
- Developmental and Neurological Assessments: Early developmental screening, standardized developmental tests, and referral to pediatric neurology if seizures or significant developmental delays detected
- Endocrinological Evaluation: Growth hormone assessment and testosterone evaluation in appropriate conditions (Turner syndrome, Klinefelter syndrome)
- Genetic Counseling: Comprehensive genetic counseling for family members and recurrence risk assessment
- Monitoring Frequency: Long-term periodic assessment based on specific diagnosis; regular pediatric follow-up, subspecialty evaluations as needed for organ-specific complications
- Fasting Required?
- Fasting Requirement: No
- Feeding/Nutrition: Newborns can be fed normally; no fasting or dietary restrictions required prior to blood collection
- Sample Collection: Blood is obtained via heel stick or venipuncture; sample collected on filter paper card (dried blood spot) or in EDTA tube depending on laboratory protocol
- Timing: Performed within 24-48 hours after birth as part of routine newborn screening or when clinically indicated
- Special Instructions: Ensure proper identification of sample with newborn's name, date of birth, and identifying numbers; maintain chain of custody; store dried blood spots at room temperature prior to testing
- Medications: No medications need to be withheld; neonatal medications do not interfere with FISH testing
- Sample Stability: Dried blood spots are stable at room temperature for extended periods; EDTA whole blood samples should be processed within 24-48 hours if not on filter paper
How our test process works!
