
Chromosomal abnormalities account for 50–60% of recurrent pregnancy losses. Numerical abnormalities (such as trisomies 13, 18, and 21) and structural chromosomal abnormalities are analyzed using FISH, chromosome analysis, and molecular karyotyping techniques.
Chromosome Analysis (Karyotyping)
Feature | Details |
Method | Cell Culture |
Coverage | All chromosomes (24 chromosomes) |
Sample Requirement | Amniotic Fluid (Plungerless syringe) Maternal blood in EDTA CVS Heparinized Blood Abortus Tissue Cord Blood (Cordocentesis) |
Turnaround Time (TAT) | 3-4 weeks (Amniocentesis) 2-3 weeks (CVS and Abortus) 15 days (Peripheral Blood) |
Rapid Aneuploidy FISH
Rapid Aneuploidy FISH is routinely recommended and performed at our center, providing rapid detection of common chromosomal aneuploidies in amniotic fluid and CVS specimens.
Feature | Details |
Method | FISH |
Coverage | Analysis of chromosomes 13, 18, 21, X, and Y |
Sample Requirement | Fetal Blood CVS Amniotic Fluid |
Turnaround Time (TAT) | 3-5 days |
Molecular Karyotyping
Molecular karyotyping enables the detection of chromosomal imbalances, including microdeletions and microduplications, that cannot be identified using conventional cytogenetic methods.
Feature | Details |
Method | Chromosomal Microarray Analysis (aCGH / SNP-array) |
Coverage | CNV, del/dup, LOH |
Sample Requirement | Fetal Blood CVS Amniotic Fluid Cord Blood (Cordocentesis) Heparinized Blood |
Turnaround Time (TAT) | 2-3 weeks |
Maternal blood must be submitted alongside prenatal samples to exclude Maternal Cell Contamination.
*For a detailed sample collection, please contact our team.
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