What is Genetic Infertility?

If you’re a woman and you think that you could be infertile or are struggling to conceive naturally, one of our fertility specialists will be able to conduct a full examination of your womb and ovarian tract. This will allow you to either put your mind at ease or locate the problem so that we can take the steps to treat the issue.

Many women are unable to conceive and deliver a healthy baby due to genetic factors. Chromosome disorders occur in more than half of all first-trimester pregnancy losses.

In cases where infertility is passed from parents to children, certain conditions can be hereditary.

What are the causes?

Polycystic Ovary Syndrome (PCOS)

Studies show that problems with a woman’s ovary can be inherited from her mother. This includes PCOS, a condition that affects how women’s ovaries work. PCOS can lead to irregular periods and hinder ovulation.

PCOS is one of the most common reasons why women might have difficulties conceiving, but there are fertility treatments available.


Another possibly hereditary condition, endometriosis occurs when the womb’s tissue lining lies outside of the womb.  There are various therapies used to treat endometriosis, including hormonal contraceptives.

Chromosome abnormalities

Generally, genetic diseases caused by chromosomal abnormalities are not inherited. Rather, they usually occur as random impediments during the formation of sperm, eggs and embryos.

If implantation of an abnormal embryo does occur, the pregnancy may result in miscarriage or the birth of a baby with physical problems, developmental delay, or a mental defect.

Inherited genetic disease

A rare case of infertility, inherited genetic disease is the cause of infertility in less than five percent of couples trying to conceive. Inherited genetic disease refers to abnormal genes or mutations.

Single-gene disorders usually indicate a family history of a specific genetic disease such as cystic fibrosis (CF) – an incurable and fatal disease affecting the mucous glands of vital organs – and Tay Sachs, also a fatal disorder, in which harmful quantities of a fatty substance build up in tissues and nerve cells in the brain.

Though generally rare, these diseases are usually devastating to a family. Fortunately, much progress has been made in detection through pre-implantation genetic diagnosis (PGD) in conjunction with in vitro fertilization (IVF). Although a couple may otherwise have no fertility problems, IVF and PGD can work together to spare mother and father from heartache in cases where there is a known single-gene family history.

Parents of affected children are usually unaffected by the genetic condition, though each carry a single copy of the mutated gene (known as carriers).

It may also be that infertility is caused by a combination of genetic, behavioural and environmental factors. Some mutations can be acquired through contracting a disease such as cancer. Environmental and behavioural factors such as diet, exercise, exposure to toxins, or medications and illegal drugs can have an impact on genetic traits.

In addition, if other women in your family have had problems conceiving due to premature menopause, endometriosis or other factors, you may be at increased risk of the same problems.

How does IPSA carry out the Genetic Infertility testing?

Both the eggs and embryos can be genetically screened to assess particular genetic abnormalities by using advanced genetic techniques. The basic genetic screening method (it has been used successfully for more than 20 years now) is the pre-implantation genetic diagnosis (or PGD). The original use of PGD was to detect/determine any genetic alterations in the embryos of those couples at high risk of passing on some form of the inherited disease to their offspring. These couples, who were usually fertile, needed in-vitro fertilisation (or IVF); their embryos were analysed and some of these embryos were diagnosed as being unaffected by the inherited genetic alteration.

More recently, this PGD technology is being used in IVF treatments for infertile couples, as the technique improves IVF success rates. PGD is used to assess and identify the chromosomally normal IVF embryos to use during the transfer process. The evidence is mounting that both miscarriages and unsuccessful IVF implantations are due to chromosomal imbalances in embryos. Consequently, PGD, which involves egg/embryo screening, is particularly worthwhile if you have had a miscarriage history, unsuccessful IVF cycles, or are older (chromosomal abnormality risk increases with age; e.g., Downs syndrome, when an extra copy of a particular chromosome called chromosome 21 causes the syndrome). Any couple with a previous pregnancy diagnosis involving a chromosome abnormality should consider PGD.

The latest PGD embryo-screening techniques use array comparative genomic hybridisation (called CGH). All of the embryo’s chromosomes can be assessed using CGH, with only low-risk embryos then being selected for embryo transfer.

Genetic diseases are a complex topic, and the information here is meant only as an overview of the topic. If you and your partner believe you may be prone to genetic risks as parents, your IPSA Medical Specialist can advise you the next steps to take and clarify any questions you may have.

Please call IPSA Medical Clinic today if you believe you could benefit from Genetic Infertility Testing.

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