What are Hereditary Conditions and Why Can PGD Help?

15:55 3rd March 2017 | Inherited Genes

Hereditary Conditions Defective Genes Conception Metabolic Disorder Genetic Disorder Speech Difficulty Intellectual Disability Multiple Organ Damage Defective Gene Defective Enzymes High Cholesterol Levels Cardiovascular Disease Muscle Degeneration Sperm Production Miscarriage Still Births PGD IVF Embryos Hereditary Disease

EmbryosHereditary conditions are diseases or disorders that are inherited genetically, in other words, defective genes that are passed on from a parent (or parents) to a child through conception.

Two examples of hereditary diseases that you might have heard of include muscular dystrophy and Down syndrome. Here are a few examples of hereditary conditions with brief descriptions:

Galactosemia : Complications of this metabolic disorder include liver damage, speech difficulty and intellectual disability.

Sickle cell anaemia : This serious genetic disorder causes severe pain known as pain crises. Over time it also results in multiple organ damage.

Cystic fibrosis : A defective gene causes a thick build-up of mucus in the lungs, pancreas and other organs. Sufferers are prone to malnutrition and lung infections and need to work closely with healthcare professionals to steer clear of germs as much as possible.

Glycogen storage disease : Genetically defective enzymes cannot successfully perform the tasks of controlling the change in sugar levels. Symptoms may include poor growth, muscle cramps, low blood sugar, a greatly enlarged liver and a swollen belly.

Polycystic kidney disease : Symptoms, which only develop later in life (30/40), include back pain, blood in the urine, frequent bladder or kidney infections and high blood pressure.

Familial hypercholesterolemia : This genetic disorder is characterised by high cholesterol levels. This can cause cardiovascular disease to manifest at a young age.

Haemophilia : More likely to occur in males, this disease impairs the body’s ability to control blood clotting. Bleeding occurs internally into muscles and joints.

Duchenne muscular dystrophy : A rare disease that affects around 1 in 3 600 boys. Muscle degeneration starts in the legs, progresses to the arms, neck and other areas, mostly ending in premature death.

Turner’s syndrome : This genetic disease affects females exclusively. In most cases persons affected will have a short, webbed neck, low hairline, short stature and swollen hands and feet at birth.

Klinefelter Syndrome : One of the main effects of the syndrome (often not diagnosed until adulthood) is stunted testicular growth and low sperm production.

Hypophosphatemic rickets : In the most severe cases, growth is stunted and bone abnormalities occur. The most noticeable of these are bowlegs or knock-knees.

Edwards syndrome : This serious condition disrupts a baby’s development in the womb, with many cases ending in miscarriage or stillbirth.

What is PGD?

Preimplantation genetic diagnosis (PGD) is a procedure performed during in vitro fertilisation (IVF). Essentially early embryos are tested for hereditary conditions (genetic diseases) – before implantation – to identify embryos without genetic disorders. Once the healthy embryos have been carefully selected, the IVF cycle can be completed by transferring an embryo to the uterus.

How Can PGD Help?

PGD can help make sure that you don’t pass a hereditary disease to your future family and generations to come. This could save your family from immeasurable heartache and financial burden caused by disease you weren’t prepared for.

Who Could Benefit from PGD?

Women over the age of 35

Carriers of single gene disorders (e.g. cystic fibrosis)

Women who have experienced recurrent miscarriages

Those with chromosomal disorders (e.g. Down syndrome)

Carriers of sex-linked genetic disorders (e.g. Duchenne muscular dystrophy)

Parents with a child that has a serious genetic condition, who want to get pregnant again

Are you concerned about hereditary conditions in your family?

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