Posts Tagged ‘genetic condition’

Today is World Down Syndrome Day

Wednesday, March 21st, 2018

What is Down syndrome?

Down syndrome is a chromosomal condition caused by extra genetic material. Typically, our cells contain 23 pairs of chromosomes. In the case of Down syndrome, a person has an extra full or partial copy of chromosome 21. This extra genetic material changes how the body and brain develop. People with Down syndrome have a few common physical traits, but each individual is unique and can lead a healthy active life.

We don’t know for sure why Down syndrome happens. Even though it’s a genetic condition, the majority of the cases are not passed on from the parents or family to the baby. Most cases happen because in the early stages of the baby’s development, there is a problem when the cells are dividing. However, there are some factors that may increase the risk of having a baby with Down syndrome, such as:

  • Mother’s age. The risk of Down syndrome increases with the mom’s age. Even though the risk is greater as your age increases, about 80 percent of babies with Down syndrome are born to women age 35 or less. This is because younger women have more babies than older women.
  • Having had a baby with Down syndrome. Up to age 40, for each pregnancy your chances of having another baby with Down syndrome is about 1 in 100 (1 percent). After age 40, the risk is based on your age. Talk to a genetic counselor to understand your risk of having another baby with Down syndrome.
  • Being a carrier of a genetic translocation. Both, men and women, can pass a genetic translocation to their baby. These cases are not very common. If you had a baby with Down syndrome before or if you or your partner have a family history of Down syndrome, it’s best to talk to a genetic counselor.

During pregnancy your health care provider will offer screening tests to see if your baby is more likely to have Down syndrome. These tests are offered to all pregnant women as part of regular prenatal care. However, a screening test won’t tell you for sure if your baby has Down syndrome. It only tells you if there is a higher risk. To know for sure you will need a diagnostic test.

How do you know if your baby has Down syndrome?

If you get an abnormal screening test result, your provider will recommend a diagnostic test. A diagnostic test will confirm if a baby has Down syndrome. There are few diagnostic tests:

  • Amniocentesis (also called amnio). This test checks the amniotic fluid surrounding your baby in the uterus to check for Down syndrome. You can get an amnio at 15 to 20 weeks of pregnancy.
  • Chorionic villus sampling (also called CVS). This test checks the tissue from the placenta to see if a baby has Down syndrome. You can get a CVS at 10 to 13 weeks of pregnancy.
  • Cordocentesis (also called percutaneous umbilical cord sampling or PUBS). For this test your provider inserts a thin needle into an umbilical cord vein to take a small sample of your baby’s blood to check for chromosome defects. You can get this test between 18 and 22 weeks of pregnancy. There’s a much greater risk of miscarriage with cordocentesis than with an amnio or a CVS. So you only get this test if other tests are unclear and your provider can’t confirm if your baby has Down syndrome any other way.

Down syndrome is also identified at birth by physical traits like: almond-shaped eyes that slant up, low muscle tone, a single line across the center of the palm of the hand, and a flattened face. But these traits won’t tell you for sure if your baby has Down syndrome, a chromosomal test call karyotype is needed to confirm this diagnosis.

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.