Chromosome Analysis

If you have been experiencing difficulties with fertility or have had frequent miscarriages you may be wondering exactly what is going on. Sometimes, a chromosome analysis test can help to determine the factors underlying your fertility issues. This test is designed to analyze and evaluate the chromosomes that you pass along to your baby during fertilization. Sometime, problems with a couple's chromosomes can cause a variety of fertility issues.

What is a Chromosome?
Every living thing is made up of various chromosomes. Chromosomes are structures that contain the genetic code for life, or DNA. DNA is what dictates our sex and appearance. It is also responsible for controlling all of our bodily functions. Every human being has 46 chromosomes, arranged into 23 pairs. During fertilization, 23 chromosomes from the mother and 23 chromosomes from the father meet to form a complete genetic code.

Chromosomes and Infertility
Sometimes there can be defects in our chromosomes. Such defects can cause distortions in appearance or bodily function. During fertilization, an embryo needs to contain the right chromosomes in the proper order to create a healthy baby. Occasionally, the wrong chromosomes may be contained in a fertilized egg. Sometimes this means that a child will be born with a birth defect, such as Down's Sydrome or Turner's Syndrome. On other occasions, these chromosomal abnormalities can have other effects on fertility, causing:

• prolonged infertility
• miscarriage
• multiple miscarriages

What is a Chromosome Analysis?
A chromosome analysis is a test that can be performed to determine the number, order, and shape of chromosomes in an organism. Also called a karyotype, a chromosomal analysis can be used to see if your chromosomes are playing a role in your infertility. A chromosome analysis can be done through a simple blood test or by analyzing miscarried fetal matter.

Once cells are collected, they are cultured and grown in a laboratory. They are then spread onto a slide and stained, so they are easy to see. Using a special microscope, lab technicians can then sort and count the chromsomes. Each chromosome can also be examined to ensure it is of the proper shape and size.

Problems with Chromosomes
There are some very common chromosomal abnormalities that can be looked for during a chromosome analysis. These include:

• extra chromosomes
• missing chromosomes
• deletions or additions to the data within each chromosome
• translocations of chromosomes (in which all chromosomes are present but rearranged

The Results
The results of your chromosome analysis should be available within a few days. Your reproductive endocrinologist may refer you to a genetic counselor who can better explain the results.

Normal Results: Normal results from a chromosome analysis show 46 chromosomes. A girl will have 2 pairs of 22 chromosomes, and then two sex chromosomes (XX). A boy will also have 2 pairs of 22 chromosomes but will have two different sex horomones (XY).

Abnormal Results: If your test shows less than 46 chromosomes, there is a genetic defect. If your test indicates abnormal chromosome shape or size, or broken or translocated chromosomes, there is also a genetic defect. This could be causing your fertility difficulties.

Treatments for Chromosomal Abnormalities
If you test positive for a chromosome abnormality, further testing should be performed by a specialist. Your reproductive endocrinologist will be able to refer you to one.

Most of the time, chromosomal abnormalities cannot be fixed. There is a new procedure called Pre-Implantation Genetic Diagnosis (PGD) which works to isolate eggs that contain genetic defects, before they become implanted in the womb. This treatment is very expensive however, and is not available at all clinics.

It is generally recommended that couples suffering from genetic difficulties try in-vitro fertilization using a donor egg or donor sperm. This way, genetic defects will not interfere with fertilization, and will not be passed on to your baby.

We are unable to provide answers to medically related questions or other medical advice via e-mail. Our physicians look forward to addressing your medical needs in person. To schedule an appointment or for more information about this practice as well as the programs and treatments they offer, please complete the form below. Be sure to include a valid telephone number and e-mail address so that one of our patient services coordinators may contact you directly.

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