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New Tests for Genetic Disorders Provide Hope

Tests for genetic disorders can help you have a healthy baby

Recently, I saw a new patient who had difficulty becoming pregnant. She told me that a close friend of hers had recently delivered a baby with a genetic disorder. The patient seeking our assistance was very worried about having a similar experience. I was able to tell her about tests for genetic disorders.

Telling the whole story

It turns out that the patient’s friends (both the man and the woman) were carriers of a recessive gene. The combination of these two recessive genes resulted in the child developing the disease. Diseases that result from the combination of a recessive gene from each parent is an autosomal recessive disorder.

Although neither the mother nor the father of the child had an abnormality, both were carriers of the recessive gene. In this situation, the baby from this couple had a 25% chance of developing the disease. If the child did not develop the disease, then the child had a 50% chance of being a carrier. The child also has a 25% chance of not being affected at all.

Every person may be a carrier of several recessive genes. If there has not been a child born in her family with an abnormality, the couple may have no knowledge of being a carrier of a recessive gene. Unfortunately, the couple may not know until they have a child with a genetic disorder. It is preferable to test the man and the woman prior to conception to determine whether they are carriers and avoid a genetic disorder.

More about tests for genetic disorders

Today, there is available testing for the man and the woman for a DNA analysis with the ability to identify over 100 recessive genes.  If the man and woman carry the same disease, the couple can elect to undergo a cycle of in vitro fertilization (IVF) with preimplantation genetic screening (PGS). They can then transfer unaffected embryos to avoid having a child with the genetic abnormality.

Although a couple could elect to undergo insemination with donor sperm or to undergo a donor egg cycle, IVF with PGS is usually more desirable. All of these procedures allow the couple to avoid having a child with the genetic disorder that could have resulted from the combination of their recessive genes. Contact us to learn more.

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