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Genetic causes of infertility and early pregnancy loss

Infertility and recurrent pregnancy loss can be caused by a range of different conditions.  For a subset of couples the cause is genetic.

For example, 1-2 in 500 of us has an abnormal chromosome arrangement (a deviation from the norm called a translocation).  This has no bearing on our health, but can cause infertility, recurrent pregnancy loss and unsuccessful IVF treatment. A simple blood test called a karyotype can detect these variations in chromosomes.

Men with low sperm counts (oligospermia) or who have no sperm (azoospermia) have a ten-fold increase in chromosome abnormalities compared with normal fertile men.

Women at risk of premature ovarian failure and entering the menopause in their normal twenties and thirties may have changes in specific genes.

Image top right: A normal (46, XY) karyotype showing 22 pairs of chromosomes (chromosomes 1-22 large to small called autosomes) and a single X and Y (maleness) chromosome.  Females have 22 pairs of chromosomes and two X chromosomes (46, XX).

It is important to investigate any possible genetic cause of infertility as it can affect your treatment options. For example PGD can be offered to patients with translocations to identify embryos with an unbalanced combination of chromosomes.  Since many genetic conditions can be inherited, identifying them also has implications for any children born from successful treatment and for the wider family.

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