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.


Table of Contents
1. Chromosome Analysis
2. Chromosome Abnormalities: Now what?
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