Posts Tagged ‘genetic condition’

What you need to know about birth defects

Monday, January 18th, 2016

snugglingEvery 4 ½ minutes in the US, a baby is born with a birth defect. That means that nearly 120,000 (or 1 in every 33) babies are affected by birth defects each year. They are a leading cause of death in the first year of life, causing one in every five infant deaths and they lead to $2.6 billion per year in hospital costs alone in the United States.

What are birth defects?

Birth defects are health conditions that are present at birth. They change the shape or function of one or more parts of the body and can affect any part of the body (such as the heart, brain, foot, etc). They may affect how the body looks, works, or both.

There are thousands of different birth defects and they can be very mild or very severe. Some do not require any treatment, while others may require surgery or lifelong medical interventions.

What causes birth defects?

We know what causes certain birth defects. For instance, drinking alcohol while you are pregnant can cause your baby to be born with  physical birth defects and mental impairment. And genetic conditions, such as cystic fibrosis or sickle cell disease, are the result of inheriting a mutation (change) in a single gene. However, we do not know what causes the majority of birth defects. In most cases, it is a number of complex factors. The interaction of multiple genes, personal behaviors, and our environment all may all play a role.

Can we prevent birth defects?

Most birth defects cannot be prevented. But there are some things that a woman can do before and during pregnancy to increase her chance of having a healthy baby:

  • See your healthcare provider before pregnancy and start prenatal care as soon as you think you’re pregnant.
  • Get 400 micrograms (mcg) of folic acid every day. Folic acid reduces the chance of having a baby with a neural tube defect.
  • Avoid alcohol, cigarettes, and “street” drugs.
  • Talk to your provider about any medications you are taking, including prescription and over-the-counter medications and any dietary or herbal supplements. Talk to your provider before you start or stop taking any type of medications.
  • Prevent infections during pregnancy. Wash your hands and make sure your vaccinations are up to date.
  • Make sure chronic medical conditions are under control, before pregnancy. Some conditions, like diabetes and obesity, may increase the risk for birth defects.
  • Learn about your family health history.

Have questions? Email us at AskUs@marchofdimes.org.

Progeria – accelerated aging in children

Tuesday, January 14th, 2014

Much in the news of late, progeria is an extremely rare genetic condition with only 200-250 children worldwide living with it at any point in time. The following description is taken from the Progeria Research Foundation.

Hutchinson-Gilford Progeria Syndrome (“Progeria”, or “HGPS”) is a rare, fatal genetic condition characterized by an appearance of accelerated aging in children. Its name is derived from the Greek and means “prematurely old.” While there are different forms of Progeria*, the classic type is Hutchinson-Gilford Progeria Syndrome, which was named after the doctors who first described it in England; in 1886 by Dr. Jonathan Hutchinson and in 1897 by Dr. Hastings Gilford.

HGPS is caused by a mutation in the gene called LMNA (pronounced, lamin – a). The LMNA gene produces the Lamin A protein, which is the structural scaffolding that holds the nucleus of a cell together. Researchers now believe that the defective Lamin A protein makes the nucleus unstable. That cellular instability appears to lead to the process of premature aging in Progeria.

Although they are born looking healthy, children with Progeria begin to display many characteristics of accelerated aging at around 18-24 months of age. Progeria signs include growth failure, loss of body fat and hair, aged-looking skin, stiffness of joints, hip dislocation, generalized atherosclerosis, cardiovascular (heart) disease and stroke. The children have a remarkably similar appearance, despite differing ethnic backgrounds. Children with Progeria die of atherosclerosis (heart disease) at an average age of thirteen years.

The March of Dimes extends our most sincere condolences to our Senior Vice-President of Chapter Program Services, Scott Berns, and his family over the recent loss of their son Sam Berns to complications stemming from progeria.

To learn more about progeria, please visit the Progeria Research Foundation.