Preloader

Chromosomal Alterations

From Uncertainty to Clarity in Prenatal Diagnosis

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.

//
Our customer support team is here to answer your questions!