Soulmate Gem
Soulmate Gem
Photo: Anna Shvets
Marriages between people who are related is more common than you might think. Unlike what many people think, their offspring are not doomed to birth defects or medical problems. In fact, unless they both carry the same gene mutation, the couple's chance of having a healthy child is almost as high as any other couple.
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Read More »Marriages between people who are related is more common than you might think. Unlike what many people think, their offspring are not doomed to birth defects or medical problems. In fact, unless they both carry the same gene mutation, the couple’s chance of having a healthy child is almost as high as any other couple. Let’s examine why, through the story of one couple.
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Read More »If Maria and Max do have a family history of an autosomal recessive condition, such as thalassaemia, their degree of risk could be calculated based on who the affected individual was. Depending on the exact condition, testing could be offered as carrier screening. In the case of thalassaemia, for instance, Maria and Max could be offered a blood test to look for changes in their blood cells that might indicate that they’re carriers of the thalassaemia gene. But if they don’t have any family history of an autosomal recessive condition, the medical geneticist would have to rely on risk estimates based on population data and general experience. We know (based on Victorian data) that approximately four in 100 couples will have a baby with a birth defect, which may be mild or severe. First-cousin marriages add extra risk to this, resulting in an approximate doubling of the background risk. Without a family history of an autosomal recessive condition, Maria and Max have an 8% chance of having a child diagnosed with a problem after birth. In other words, their chance of having a healthy baby is greater than 90%, a figure that most people find quite reassuring. This figure is not too different to the general population risk of having a baby with a birth defect. Most related couples accept this risk and focus instead on general measures to have a healthy baby, such as taking folate, losing weight, and reducing their intake of alcohol and cigarettes. For advice on this topic or if you have concerns about a possible genetic condition in your family, contact the Victorian Clinical Genetics Services or your local clinical genetics service.
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