Posts Tagged ‘family history’

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.

Don’t forget your family health history

Thursday, November 21st, 2013

generations-at-the-tableAs everyone is preparing for holiday travels or out-of-town visits from relatives, it is a good time to remember that family gatherings give you the perfect opportunity to discuss your family health history.  Each year since 2004, the Surgeon General has declared Thanksgiving to be National Family History Day.

A family health history is a written or graphic record of the diseases and health conditions present in your family. A useful family health history shows three generations of your biological relatives, the age at diagnosis of any specific diseases, and the age and cause of death of deceased family members. The family health history is a useful tool for understanding health risks and preventing disease in individuals and their close relatives.

If you have already discussed your family health history, now is a great time to update it.  And if it is not something you have had a chance to do, holidays are the perfect opportunity, when everyone is gathered together.  You can read more about the importance of family health history in some of our previous blog posts.  And you can go to our website to find our helpful family health history forms.  Learning about your family’s health history may help to ensure that your family can celebrate more holidays together in the future.

Diabetes Alert Day

Tuesday, March 26th, 2013

Tuesday, March 26, is Diabetes Alert Day. It is designed to teach the public about the seriousness of diabetes, particularly when the disease is left undiagnosed or untreated.

Having gestational diabetes during pregnancy significantly increases a woman’s future chances of developing diabetes. About half will develop diabetes over the next 10 years. And the mom isn’t the only one at risk – her child of that pregnancy may be at an increased risk for developing obesity and type 2 diabetes later in life.

Find out if you’re at risk for type 2 diabetes by taking the Diabetes Risk Test and talking to your family about your family history of diabetes. If left undiagnosed or untreated, diabetes can lead to serious health problems including heart disease, stroke, blindness, kidney disease, amputation, and even death.

For more information and free resources, visit the NDEP Web site at YourDiabetesInfo.org.

We are proud to be partners in the Show Your Love national campaign designed to improve the health of women and babies by promoting preconception health and healthcare.