Planning a family? What to know about inherited genetic diseases and screening options

(BPT) – The decision to start a family can create a mixture of excitement and concern for parents-to-be. While you may be eager for the joys of parenthood, it’s normal to be concerned about potential health risks to your baby, whether you’re already pregnant or planning to get pregnant.

Approximately 3 to 4 percent of all babies born each year have a genetic disease or major birth defect, and 1 percent will be born with a chromosomal abnormality, according to NetWellness. Genetics is thought to be a primary factor in a majority of birth defects, and genetic diseases can range in severity—some can be debilitating and even fatal, while others are minor and may not affect a child’s quality of life.

You may be aware of some well-known genetic conditions, like Down Syndrome or Spine Bifida, but there are hundreds of others that could affect your child if both you and your partner carry the genetic marker for the disease. For some conditions, only the mother needs to be a carrier to be at risk of passing along the genetic condition to her child. It is important to note that carriers are typically healthy and usually do not have symptoms.

“Newer genetic screening panels, including Horizon Carrier Screen, now allow screenings for genetic conditions that have not been available before, such as Duchenne Muscular Dystrophy,” says Jill Hechtman, MD, FACOG, medical director of Tampa Obstetrics. “These new large panels can be tailored to the specific needs of patients, allowing for more comprehensive screenings and arming patients with more knowledge about their genetic carrier status.”

Genetic carrier screens like Horizon Carrier Screen – a simple blood or saliva test that can be done before or during pregnancy – can help parents learn if they are carriers for hundreds of different genetic disorders. The knowledge learned from this screening test can help them make important health decisions. Here are four relatively common, but often lesser known genetic disorders among the 274 genetic diseases that Horizon screens for:

1. Duchenne muscular dystrophy (DMD)

DMD most commonly affects boys, with about one in every 3,500 male infants being born with this fatal genetic disease, according to the U.S. National Library of Medicine. DMD is the most common fatal genetic disorder diagnosed in childhood. Children with DMD experience progressive muscle weakness and atrophy that usually begins around 3 to 5 years old, so many parents who are carriers of this disease don’t realize this until their child starts exhibiting symptoms. Since the symptoms don’t typically begin until the child is several years old, some parents are already pregnant with their next child when they realize they are carriers of this disease. Those with DMD rarely live into their 30s, with heart and breathing problems commonly causing death.

2. Fragile X syndrome

The most common form of inherited developmental disability among boys, Fragile X, is carried on the X chromosome. While the disorder can affect boys and girls, symptoms are usually more severe in boys, causing learning, intelligence, social, emotional, and speech and language problems. The CDC estimates that one in every 5,000 boys is born with the disorder. Only the mother needs to be a carrier to be at risk to pass along Fragile X to her child.

3. Spinal Muscular Atrophy (SMA)

SMA affects nerve cells in the spinal cord, and can weaken muscles, causing difficult with walking, crawling, breathing, swallowing and controlling head and neck motion, according to the Library of Medicine. The disorder takes many forms, including some that are fatal. According to Cure SMA, the disorder affects about one in every 10,000 babies but one in every 50 Americans is a genetic carrier. Depending on the type of SMA, babies with SMA typically live less than two years.

4. Cystic Fibrosis

According to the Cystic Fibrosis Foundation, Cystic fibrosis (CF) is an inherited disorder that causes severe lung disease and digestive system problems. It affects the cells that produce secretions like mucus, sweat, and digestive juices causing them to be thick and sticky, not thin and slippery. Instead of acting as a lubricant, the thickened secretions clog airways and various glands in the body, especially in the pancreas and lungs. Symptoms of CF range from mild to severe and may include progressive lung disease, nutritional deficiencies related to chronic digestive problems and decreased pancreatic function, and infertility in men. CF does not affect intelligence. The average life expectancy is about 37 years for individuals with classic CF.

The incidence of CF is approximately 1 in 3,700 among a pan-ethnic population. Specific carrier frequency estimates differ by ethnic group.

By using a genetic carrier screen like Horizon, a patient can learn about their chance to have a child with a genetic disorder before or during pregnancy. Many people do not know they are a carrier for a genetic disorder until they have an affected child. Genetic screenings can give a patient the information they need to make the reproductive choices that are right for them.

To learn more about the Horizon Carrier Screen, please go to www.horizonscreen.com.

 


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