Posts Tagged ‘diagnostic test’

Why newborn screening is important

Wednesday, September 5th, 2018

Newborn screening tests check for rare but serious and mostly treatable conditions. Babies with these conditions often look healthy at birth. If a health condition is found early with newborn screening, it often can be treated. This may help avoid more serious health problems for your baby. Newborn screening includes blood, hearing and heart tests.

When is newborn screening done?

All babies in the United States get newborn screening before they leave the hospital, usually when they are 1 or 2 days old. If your baby is not born in a hospital, talk to her health care provider about getting newborn screening before she is 7 days old. Some states require that babies have newborn screening again, about 2 weeks later.

How is newborn screening done?

Newborn screening has three parts:

  1. Blood test. Your baby’s heel is pricked to get a few drops of blood. The blood is collected on a special paper and sent to a lab for testing. The lab then sends the results back to your baby’s health provider.
  2. Hearing screening. The provider places a tiny, soft speaker in your baby’s ear to check how your baby responds to sound.
  3. Heart screening. This test is called pulse oximetry. It checks the amount of oxygen in your baby’s blood by using a sensor attached to his finger or foot. This test is used to screen babies for a heart condition called critical congenital heart disease (also called CCHD). CCHD is the most severe heart defects. Babies with CCHD need treatment within the first few hours, days or months of life. Without treatment, CCHD can be deadly.

What happens with the tests results?

Most newborn screening results are normal. If your baby’s results are normal, you won’t hear back about them. But you always can ask your baby’s provider for the results.

In rare cases when the screening results aren’t normal, you’ll get a phone call about 2 to 3 weeks after the testing. This call can come from someone at your state’s newborn screening program or from your baby’s health care provider. If you get a call about your baby’s results, don’t panic. Most of the time your baby simply needs more testing.

Your baby’s provider then recommends another kind of test, called a diagnostic test, to see if there is a health problem. If the diagnostic test results are normal, no more testing is needed. If the diagnostic test results are not normal, your provider can guide you about next steps for your baby.

How many health conditions should your baby be screened for?

March of Dimes would like to see all babies in all states screened for at least 34 health conditions. Many of these health conditions can be treated if found early. Each state decides which tests are required. You can find out which conditions your state screens for at babyfirsttest.org.

Learn more about newborn screening at: marchofdimes.org

What you need to know about infertility

Thursday, April 26th, 2018

April 22-28 is National Infertility Awareness Week. Many couples struggle with infertility. In the United States, about 10 to 15 percent of couples have infertility problems. This can cause a tremendous amount of stress and anxiety.

How do you know if you or your partner have an infertility problem?

If you have been trying to get pregnant for several months without any luck, you may start wondering if that’s normal. According to the Center for Disease Control and Prevention (CDC), infertility is defined as not being able to get pregnant after one year of unprotected sex. Infertility problems affect both men and women. About one-third of the cases are due to female factors, and male factors account for one-third of the cases. The rest of the cases are a combination of factors or the causes cannot be identified. There are many factors that can affect fertility, such as:

What can you do?

If you and your partner have been trying to get pregnant for 3-4 months, don’t give up and keep trying. You may just need a little more time. Talk to your provider if you’re worried that it’s taking too long. You and your partner should schedule a visit with your provider if:

  • You are a woman who is younger than 35 and have not been able to get pregnant after trying for 12 months.
  • You are a woman who is 35 years old or older and have not been able to get pregnant after trying for 6 months

Your provider may do some tests to help identify if there’s a problem. You can also learn more about certain lifestyle changes that can help you and your partner lower the risk of having fertility problems.

For more information:

 

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.