Short Description

Chromosomal aneuploidy, the gain or loss of chromosomes, is a major cause of early fetal demise. Trisomy is the most common type of chromosome abnormality in spontaneous abortions and has been observed for most chromosomes, with 13,18, 21, X, and Y being the most common.

PreTest Information

Duly filled Chromosome & FISH analysis Requisition Form (Form 17) is mandatory.

Detail Description

FISH - Aneuploidy Detection Products of Conception (POC) using Chromosomes 13, 18, 21, X & Y | DNA Labs India | Test Cost INR 8500 | Symptoms & Diagnosis

Products of conception (POC) refer to the tissues that are expelled from the uterus after a miscarriage or abortion. These tissues can be analyzed to detect any genetic abnormalities that may have caused the loss of the pregnancy. One such method of analysis is Fluorescence In Situ Hybridization (FISH), which is a molecular cytogenetic technique used to identify chromosomal abnormalities in the POC.

What is Aneuploidy?

Aneuploidy is a chromosomal abnormality in which there is a deviation from the normal diploid number of chromosomes. This can result in conditions like Down syndrome (trisomy 21), Edward syndrome (trisomy 18), Patau syndrome (trisomy 13), Turner syndrome (monosomy X), and Klinefelter syndrome (XXY). Aneuploidy is one of the leading causes of miscarriage and stillbirth.

How does FISH work?

FISH uses fluorescent probes that bind to specific regions of the chromosomes. These probes can be labeled with different fluorescent dyes to identify different chromosomes. In the case of POC analysis, FISH is used to detect aneuploidies in chromosomes 13, 18, 21, X, and Y. The tissue sample is fixed onto a slide, treated with the probes, and then analyzed under a fluorescent microscope. The number and distribution of the fluorescent signals can reveal any chromosomal abnormalities.

Test Cost and Diagnosis

The FISH test for aneuploidy detection in POC is available at DNA Labs India at a cost of INR 8500. The test is typically recommended for women who have experienced recurrent miscarriages or have had a previous pregnancy with chromosomal abnormalities. It can also be recommended for women over the age of 35, as the risk of aneuploidy increases with age.

The diagnosis of aneuploidy can be made through a combination of clinical evaluation, ultrasound, and genetic testing. FISH is a highly accurate and sensitive method of detecting aneuploidies in POC, with a detection rate of over 95%.

Symptoms of Aneuploidy

The symptoms of aneuploidy can vary depending on the specific condition and the severity of the chromosomal abnormality. Some common symptoms may include:

• Physical abnormalities
• Mental retardation
• Delayed development
• Abnormal facial features
• Heart defects
• Gastrointestinal abnormalities
• Recurrent miscarriage

Conclusion

FISH is a valuable technique for the detection of aneuploidies in POC, which can provide important information about the cause of pregnancy loss. The test is available at DNA Labs India at an affordable cost of INR 8500 and has a high detection rate. If you have experienced recurrent miscarriages or have had a previous pregnancy with chromosomal abnormalities, speak to your healthcare provider about the possibility of undergoing FISH testing for aneuploidy detection.

Chromosomal aneuploidy, the gain or loss of chromosomes, is a major cause of early fetal demise. Trisomy is the most common type of chromosome abnormality in spontaneous abortions and has been observed for most chromosomes, with 13,18, 21, X, and Y being the most common.