jamunjar-logo
whatsapp
cartmembermenu
Search for
"test & packages"
"physiotherapy"
"heart"
"lungs"
"diabetes"
"kidney"
"liver"
"cancer"
"thyroid"
"bones"
"fever"
"vitamin"
"iron"
"HTN"

Neonatal blood Aneuploidy screening - FISH 5 probes (13, 18, 21, X and Y)

Blood
image

Report in 72Hrs

image

At Home

nofastingrequire

No Fasting Required

Details

Chromosomal abnormality detection.

₹5,180₹7,400

30% OFF

Neonatal Blood Aneuploidy Screening - FISH 5 Probes (13, 18, 21, X and Y)

  • Why is it done?
    • Test Purpose: This test uses Fluorescence In Situ Hybridization (FISH) technology to rapidly detect chromosomal aneuploidy in neonatal blood samples. It screens for numerical abnormalities in chromosomes 13, 18, 21, X, and Y within 24-48 hours.
    • Primary Indications: Abnormal prenatal screening results (maternal serum screening or ultrasound findings); maternal age ≥35 years; previous pregnancy with chromosomal abnormality; family history of chromosomal disorders; polyhydramnios, oligohydramnios, or intrauterine growth restriction; cardiac abnormalities on fetal echocardiography; Down syndrome features on ultrasound
    • Clinical Contexts: Rapid assessment during pregnancy when rapid karyotyping is needed; assessment of newborns with clinical features suggestive of chromosomal abnormalities; neonates with cardiac defects, developmental delays, or dysmorphic features; parents requesting expedited genetic screening
    • Typical Timing: Performed during pregnancy (second and third trimester) following abnormal screening results or as primary screening tool; can also be performed on neonatal blood samples from cord blood or peripheral venipuncture within the first days after birth
  • Normal Range
    • Normal Result Interpretation: Reported as 'No aneuploidy detected' or 'Normal FISH result' - indicates two copies of chromosomes 13, 18, 21, X, and Y (or appropriate number based on sex)
    • Expected Chromosome Copy Number (Normal): Chromosome 13: 2 copies (diploid); Chromosome 18: 2 copies (diploid); Chromosome 21: 2 copies (diploid); Sex Chromosomes - Males: 1 X, 1 Y; Females: 2 X chromosomes
    • Abnormal Result Reporting: Results reported as specific numerical abnormalities detected; examples: 'Trisomy 21 detected (3 copies of chromosome 21)'; 'Trisomy 18 detected (3 copies of chromosome 18)'; 'Trisomy 13 detected (3 copies of chromosome 13)'; 'Monosomy X detected (1 copy of X chromosome)'; 'XXY/Klinefelter syndrome pattern'; 'XXX/Triple X syndrome pattern'; 'XYY pattern'
    • Limitations and Special Findings: 'No result' or 'Insufficient cells' - indicates inadequate sample quality; 'Mosaic pattern' - indicates mixture of normal and abnormal cell lines; 'Unbalanced translocation' - partial aneuploidy detected; FISH cannot detect structural abnormalities such as balanced translocations, inversions, or small deletions/duplications
    • Units of Measurement: Chromosome copy number per cell (numerical count); results expressed qualitatively as number of signals detected by fluorescent probes
  • Interpretation
    • Trisomy 21 (Down Syndrome): Three copies of chromosome 21 detected; most common autosomal trisomy compatible with life; associated with intellectual disability, characteristic facial features, cardiac defects (especially atrioventricular septal defects), gastrointestinal anomalies, increased risk of leukemia, early-onset Alzheimer's disease
    • Trisomy 18 (Edwards Syndrome): Three copies of chromosome 18 detected; severe developmental disorder; associated with severe intellectual disability, characteristic 'rocker-bottom' feet, clenched fists, micrognathia, cardiac defects, renal anomalies; high perinatal mortality rate (approximately 90% mortality by age 1 year)
    • Trisomy 13 (Patau Syndrome): Three copies of chromosome 13 detected; most severe autosomal trisomy; associated with holoprosencephaly, cleft lip/palate, cardiac defects, polydactyly, severe intellectual disability, seizures; very high perinatal mortality (approximately 50% by first month, 95% by age 1 year)
    • Monosomy X (Turner Syndrome): Only one X chromosome detected (no second sex chromosome); associated with short stature, ovarian dysgenesis (female infertility), cardiac abnormalities (bicuspid aortic valve, coarctation of aorta), renal anomalies, webbed neck, lymphedema; normal or near-normal intellectual function in most cases
    • XXY Pattern (Klinefelter Syndrome): Two X chromosomes and one Y chromosome detected in male; associated with male infertility, tall stature, gynecomastia, increased risk of metabolic syndrome; usually normal or mildly reduced intellectual function; often undiagnosed until adulthood
    • XXX Pattern (Triple X Syndrome): Three X chromosomes detected in female; associated with tall stature, variable intellectual disability, increased risk of learning difficulties, premature ovarian insufficiency; many individuals have minimal or no clinical manifestations
    • XYY Pattern (XYY Syndrome): One X chromosome and two Y chromosomes detected in male; associated with tall stature, possible increased risk of behavioral issues; many males have no clinical manifestations and normal fertility
    • Factors Affecting Results: Sample type and quality; maternal blood contamination; timing of sample collection; mosaicism (abnormal cells present in only some cell lines - may show low-level signal); placental contamination; adequate mitotic activity in cultured cells; proper FISH probe hybridization
    • Clinical Significance of Patterns: Clear abnormal pattern (majority of cells affected) indicates likely chromosomal aneuploidy; low-level abnormal signals may indicate mosaicism; results requiring confirmation with karyotyping or microarray; negative FISH with strong clinical suspicion warrants further testing as structural abnormalities cannot be detected by this method
  • Associated Organs
    • Primary Organ Systems: Central nervous system; Cardiovascular system; Genitourinary system; Gastrointestinal system; Musculoskeletal system; Hematologic system
    • Trisomy 21 (Down Syndrome) - Associated Conditions: Intellectual disability; Atrioventricular septal defect (AVSD), ventricular septal defect (VSD), atrial septal defect (ASD); Duodenal atresia, Hirschsprung disease, imperforate anus; Refractive errors, strabismus, cataracts; Thyroid disease (hypothyroidism); Hearing loss (conductive and sensorineural); Acute leukemia and lymphomas; Early-onset Alzheimer's disease; Celiac disease; Diabetes mellitus
    • Trisomy 18 (Edwards Syndrome) - Associated Conditions: Severe intellectual disability; Complex cardiac defects (VSD, ASD, patent foramen ovale, polyvalvular disease); Renal anomalies (hydronephrosis, cystic kidneys); Gastrointestinal abnormalities (omphalocoele, esophageal atresia); Skeletal abnormalities (rocker-bottom feet, clenched fists); Micrognathia, cleft lip/palate; Severe growth restriction; High perinatal mortality
    • Trisomy 13 (Patau Syndrome) - Associated Conditions: Holoprosencephaly (incomplete division of forebrain); Severe intellectual disability; Multiple cardiac defects (complex CHD); Cleft lip and/or palate; Polydactyly; Retinal dysplasia and other ocular abnormalities; Renal cystic dysplasia; Microcephaly; Seizures; Severe growth restriction; Highest perinatal mortality rate
    • Monosomy X (Turner Syndrome) - Associated Conditions: Short stature; Ovarian dysgenesis and female infertility; Cardiac abnormalities (bicuspid aortic valve, aortic stenosis, coarctation of aorta, mitral valve prolapse); Renal anomalies (renal dysplasia, horseshoe kidney); Webbed neck and lymphedema; Conductive hearing loss; Learning difficulties (variable); Autoimmune conditions; Hypertension
    • Sex Chromosome Aneuploidies (XXY, XXX, XYY) - Associated Conditions: Klinefelter Syndrome (XXY): male infertility, gynecomastia, tall stature, reduced testosterone, metabolic syndrome risk; Triple X Syndrome (XXX): variable intellectual disability, tall stature, ovarian insufficiency, learning difficulties; XYY Syndrome: tall stature, possible behavioral concerns, normal or increased fertility
    • Complications of Abnormal Results: Severe developmental disability requiring lifelong care; Cardiac complications potentially requiring surgical intervention; Increased susceptibility to infections and certain malignancies; Reproductive challenges; Psychological and social impact on family; Reduced quality of life and life expectancy (variable by condition)
  • Follow-up Tests
    • Confirmatory Testing: Complete karyotyping (46-chromosome analysis) - provides detailed chromosome analysis and detects balanced rearrangements; Chromosomal microarray (CMA) - detects deletions, duplications, and submicroscopic abnormalities; Quantitative PCR or digital PCR - rapid confirmation of specific aneuploidies; Conventional karyotyping required to rule out structural rearrangements
    • Imaging Studies: Fetal echocardiography - assess for cardiac defects; Detailed ultrasound - evaluate for associated anomalies; Postnatal echocardiogram - confirm or identify cardiac abnormalities in newborn; Head ultrasound or MRI - assess for CNS abnormalities
    • Metabolic and Biochemical Testing: Newborn screening panel - identify associated metabolic disorders; Thyroid function tests (TSH, Free T4) - screen for hypothyroidism common in Down syndrome; Complete blood count - baseline assessment and screen for hematologic abnormalities
    • Otolaryngologic Assessment: Audiometric testing or auditory brainstem response (ABR) - screen for hearing loss; Ear, nose, and throat evaluation
    • Ophthalmologic Evaluation: Comprehensive eye examination - screen for refractive errors, cataracts, strabismus, and retinal abnormalities
    • Renal and Urologic Assessment: Renal ultrasound - identify structural abnormalities; Voiding cystourethrogram (VCUG) - assess for reflux if indicated; Renal function tests if abnormalities identified
    • Gastrointestinal Assessment: Abdominal ultrasound or X-ray - screen for intestinal anomalies (duodenal atresia, Hirschsprung disease); Celiac serology (tissue transglutaminase antibodies) for Down syndrome patients
    • Genetic Counseling: Genetic counselor consultation - discuss implications, inheritance patterns, recurrence risks; Family members may require testing for carrier status if translocation identified
    • Monitoring and Follow-up Frequency: For Down syndrome (Trisomy 21): cardiac echo at birth and 4-6 weeks; thyroid screening at birth, 6 months, and annually; hearing assessment at birth and 3-4 weeks; developmental assessment by 6 months and regularly throughout childhood; Edwards syndrome (Trisomy 18) and Patau syndrome (Trisomy 13): intensive neonatal care with frequent monitoring; ongoing assessments based on clinical status; Turner syndrome: annual cardiac assessment, growth monitoring, hormone level checks
  • Fasting Required?
    • Fasting Requirement: No - fasting is NOT required for this test
    • Sample Collection Preparation: Neonates: peripheral venipuncture or cord blood collection with or without food/feeding; Pregnant patients: routine blood draw, no special preparation needed; Can be performed at any time of day
    • Sample Requirements: Whole blood in EDTA tube (lavender-top) or sodium heparin tube (green-top); Minimum 2-5 mL blood sample; Cord blood collection in appropriate EDTA tube if fetal sample needed; Peripheral blood preferred over maternal serum for most accurate results
    • Medications: No medications need to be avoided or held prior to this test; maternal medications do not affect blood culture results; prenatal vitamins and medications can be continued
    • Specimen Handling and Timing: Sample should be processed as soon as possible, ideally within 24 hours of collection; Room temperature storage acceptable for short periods (less than 24 hours); Can be refrigerated if delayed processing necessary; Do not freeze blood sample; Clearly label specimen with patient name, date of birth, and collection time; Include clinical indication and maternal age (if applicable)
    • Special Precautions: For pregnant patients: ensure blood is clearly identified as maternal vs fetal source; Cord blood collection: obtain with minimal maternal blood contamination for optimal results; Neonatal collection: timing not critical, can be collected any time after birth; Multiple pregnancies: document which gestational sac sample represents if applicable
    • Patient Instructions: Pregnant patients can continue normal diet and activities; No special bowel or bladder preparation needed; Wear comfortable, loose-fitting clothing for easier blood draw access; Avoid excessive arm movement immediately after phlebotomy; Can nurse newborn immediately after sample collection; Inform healthcare provider of recent blood transfusions or recent viral infections (may affect culture viability)
    • Turnaround Time: Typical results available within 24-48 hours for rapid FISH analysis; Preliminary results may be available within 24 hours; Final confirmed results typically within 48-72 hours; Depending on laboratory and sample quality, results may be expedited

How our test process works!

customers
customers