Posts Tagged ‘prenatal test’

Birth defects

Friday, January 17th, 2014

In recognition of National Birth Defects Prevention Month, here are 10 things you need to know about birth defects from the Centers for Disease Control and Prevention, CDC.

1. Birth defects are common.
Birth defects affect 1 in 33 babies in the United States every year. For many babies born with a birth defect, there is no family history of the condition.

2. Birth defects are costly and can greatly affect the finances not only of the families involved, but of everyone.
In the United States, birth defects have accounted for over 139,000 hospital stays during a single year, resulting in $2.6 billion in hospital costs. Families and the government share the burden of these costs. Additional costs due to lost wages or occupational limitations can affect families as well.

3. Birth defects are critical conditions.
Birth defects can be very serious, even life-threatening.  About 1 in every 5 deaths of babies before their first birthday is caused by birth defects in the United States. Babies with birth defects who survive their first year of life can have lifelong challenges, such as problems with infections, physical movement, learning, and speech.

4. Women should take folic acid during their teens and throughout their lives to help prevent birth defects.
Because half of all pregnancies in the United States are not planned, all women who can become pregnant should get 400 micrograms of folic acid every day, either by taking a vitamin each day or eating a healthy diet. Folic acid helps a baby’s brain and spine develop very early in the first month of pregnancy when a woman might not know she is pregnant.

5. Many birth defects are diagnosed after a baby leaves the hospital.
Many birth defects are not found immediately at birth, but most are found within the first year of life. A birth defect can affect how the body looks, how it works, or both. Some birth defects like cleft lip or spina bifida are easy to see. Others, like heart defects, are found using special tests, such as x-rays or echocardiography.

6. Birth defects can be diagnosed before birth.
Tests like an ultrasound and amniocentesis can detect some birth defects such as spina bifida, heart defects, or Down syndrome before a baby is born. Prenatal care and screening are important because early diagnosis allows families to make decisions and plan for the future.

7. Birth defects can be caused by many different things, not just genetics.
Most birth defects are thought to be caused by a complex mix of factors. These factors include our genes, our behaviors, and things in the environment. For some birth defects, we know the cause. But for most, we don’t. Use of cigarettes, alcohol, and other drugs; taking certain medicines; and exposure to chemicals and infectious diseases during pregnancy have been linked to birth defects. Researchers are studying the role of these factors, as well as genetics, as causes of birth defects.

8. Some birth defects can be prevented.
A woman can take some important steps before and during pregnancy to help prevent birth defects. She can take folic acid; have regular medical checkups; make sure medical conditions, such as diabetes, are under control; have tests for infectious diseases and get necessary vaccinations; and not use cigarettes, alcohol, or other drugs.

9. There is no guaranteed safe amount of alcohol or safe time to drink during pregnancy.
Fetal alcohol spectrum disorders (FASDs) are a group of conditions that can occur in a person whose mother drank alcohol during pregnancy. These effects can include physical problems and problems with behavior and learning which can last a lifetime. There is no known safe amount, no safe time, and no safe type of alcohol to drink during pregnancy. FASDs are 100% preventable if a woman does not drink alcohol while pregnant.

10. An unborn child is not always protected from the outside world.
The placenta, which attaches a baby to the mother, is not a strong barrier. When a mother uses cigarettes, alcohol, or other drugs, or is exposed to infectious diseases, her baby is exposed also. Healthy habits like taking folic acid daily and eating nutritious foods can help ensure that a child has the best chance to be born healthy.
For more information: www.cdc.gov/birthdefects.

Written By: Cynthia A. Moore, M.D., Ph.D. Director
Division of Birth Defects and Developmental Disabilities
National Center on Birth Defects and Developmental Disabilities
Centers for Disease Control and Prevention

Chat on genetic counseling

Monday, March 4th, 2013

Susan Klugman, MDEver wonder if genetic counseling is for you? Join us for a #pregnancychat on genetic counseling and why it’s important. Dr. Susan Klugman, Director of Reproductive Genetics at Montefiore Medical Center, will be our guest to answer your questions, such as: What ethnic groups are more at risk for a genetic disorder? What does a family health history entail? Which prenatal tests are right for you? and more.

Dr. Klugman is a “medical detective” who works to identify the possible genetic risk factors for many inherited diseases. She encourages couples to consider genetic testing even before they get married so they can be as informed as possible when planning their families. She serves on the Board of Directors of the New York State Genetics Task Force. 

Dr. Klugman has appeared on many broadcast media outlets including ABC World News Tonight with Diane Sawyer. Take this unique opportunity to learn from her and ask questions. Join us on Twitter Wednesday, March 6th at 1 PM. Don’t forget to use #pregnancychat to make sure we see your questions.

HEALTHY MOM, HEALTHY BABY is here!

Tuesday, January 29th, 2013

book1Looking for a great gift for someone pregnant or thinking about pregnancy? Order a copy of HEALTHY MOM, HEALTHY BABY, brought to you by the March of Dimes! This new book clearly lays out all the must-know information about every stage of pregnancy, along with research-based advice to help stay healthy and full of energy!

Written by obstetrician gynecologist and medical advisor to the March of Dimes Siobhan Dolan, M.D. and award-winning health writer Alice Lesch Kelly, HEALTHY MOM, HEALTHY BABY (HarperOne; February 2013: Trade Paperback Original) is designed for women at all stages of pregnancy. It provides the most accurate, up-to-date pregnancy health information including information you need before pregnancy, throughout nine months, and into the newborn period. HEALTHY MOM, HEALTHY BABY is a practical, accessible, friendly guide with clear explanations, research-based recommendations, and sensible advice for the healthiest pregnancy possible, and explains the latest advances in:
• Prenatal testing
• Pregnancy nutrition
• Fitness recommendations
• Breastfeeding
• Infant screening and care
• Making your home environment safe
• Managing postpartum symptoms.

The book also provides practical advice every mom-to-be wants quick access to, including:
• A month by month guide showing your baby’s development
• A comprehensive checklist for labor, delivery and beyond
• A glossary of terms women are likely to hear over the course of their pregnancy
• A list of resources for specific circumstances (i.e. pregnant athletes; moms of multiples; and those lacking health insurance).

Learn more at this link.

New prenatal blood test

Thursday, December 13th, 2012

New prenatal tests can give some parents piece of mind that the baby they’re expecting doesn’t have a disorder.  The tests are given sooner and with greater accuracy and less risk of miscarriage than current tests.

The new tests, which use fetal DNA suspended in the mother’s blood, can test for chromosomal disorders such as Down syndrome (trisomy 21) and trisomy 18, and Rh blood incompatibility. They also can determine the baby’s gender, which allows health care providers to screen for disorders such as hemophilia.

During pregnancy, fetal cells and cell-free fetal genetic material circulate in the mother’s bloodstream.  This DNA can be used to screen for certain genetic disorders without having to perform invasive procedures such as amniocentesis or CVS (chorionic villus sampling).

At present four widely used procedures assist health care providers in prenatal diagnosis. They are:
Amniocentesis: a procedure that collects some of the amniotic fluid that surrounds the fetus for analysis. This is a diagnostic test.
Chorionic villus sampling (CVS): a procedure that obtains tissue from around the placenta. This is a diagnostic test.
• Maternal blood tests: screening tests that use mother’s blood to help identify problems with the fetal brain, spinal cord, intestines or chromosomes. These tests include alpha-fetoprotein (AFP), hCG and other hormones. As with all forms of screening, abnormal results require follow-up testing to make a diagnosis.
Ultrasound: a scan using sound waves to visualize the fetus.

Cell-free DNA methods of screening are a new option. “Prenatal diagnosis gives parents important information about the health of their baby and the status of their pregnancy. More often than not, prenatal screening reassures parents that their baby is healthy and that these disorders are not present,” says Joe Leigh Simpson, MD, March of Dimes senior vice president for Research and Global Programs.  “For a high-risk infant, prenatal diagnosis gives parents and health care providers options that may include planning for a health problem or arranging for delivery in a medically appropriate setting. The first step toward treating these problems is diagnosing them, and cell-free DNA methods, without the need for invasive measures, are welcomed.”

Dr. Lee P. Shulman of Northwestern University says, “while this represents a profound improvement in our ability to identify women at increased risk for carrying fetuses with the most common chromosome abnormalities, still, this technology represents a limited screening protocol and should not serve as a substitute for diagnostic tests such as chorionic villus sampling and amniocentesis, which provide the most accurate and comprehensive assessment by the direct analysis of fetal tissue.”

The American College of Obstetricians and Gynecologists and the American College of Medical Genetics recommend that information on prenatal genetic screening and diagnosis should be made available to all pregnant women and those considering pregnancy.

With all the above options for testing available, it’s important to discuss what is best for you and your pregnancy with your health care provider.

What is Doppler ultrasound?

Tuesday, October 16th, 2012

Doppler ultrasound is a noninvasive prenatal test that can be used to check a baby’s health in high-risk pregnancies. Providers usually use Doppler ultrasound during the last trimester, but it may be done earlier.

During Doppler ultrasound, your provider or ultrasound technician holds a plastic tool, called a transducer, against your skin to measure the blood flow in the umbilical cord and some of your baby’s blood vessels. (Regular ultrasound will show you a still image, but it cannot show the actual blood flow.) High-frequency sound waves are bounced off circulating red blood cells to project the image of the flow. This test shows if your baby is getting enough oxygen. Your provider also can listen to your baby’s heartbeat using Doppler ultrasound.

Some providers use Doppler ultrasound to check mothers with Rh disease.  This is a condition where a difference between the mother’s blood and baby’s blood can cause a dangerous kind of anemia in the baby. Anemia is when the body doesn’t have enough red blood cells or the red blood cells are too small. When the condition is found early and treated, most affected babies survive. Doppler ultrasound has reduced the need for amniocentesis to monitor fetuses at risk of Rh disease.

What is a fetal nonstress test?

Tuesday, October 2nd, 2012

The nonstress test is a way of monitoring your baby’s health through your skin. This is not an invasive test, meaning it is not performed internally. A nonstress test allows your health care provider to check if your baby’s heart rate pattern is one seen in healthy babies. It checks to see that the heart rate increases when the baby moves around.

The nonstress test usually is performed between 38 and 42 weeks of pregnancy, especially when you’re past your due date, to make sure all’s well with the baby. It can be done as early as the 27th week of pregnancy, if your health care provider feels there are reasons to take a closer look.

For this test, you will sit with knees and back partially elevated, sometimes with a cushion under the right hip to help shift your uterus to the left. Sensitive electrodes (connected to monitors) are placed on your abdomen over conducting jelly. The electrodes can sense the fetal heart rate (FHR) and the presence and length of any uterine contractions. Usually, the results of this test appear on a computer screen, or they are printed out. If there are contractions, the external monitors will show them but they won’t be able to tell how strong they are.

If there is no fetal heart rate increase from being moved around after 30 – 40 minutes, your baby may be napping. Seriously, babies do go to sleep! If that’s the case, you will be given something sweet to drink or a small meal which may perk your baby up and get him moving. If that doesn’t work, the use of fetal acoustic stimulation (sending loud noise to the baby) may work as may gently placing your hands on your abdomen and moving the baby from side to side. Wake up little one!

If your baby still is not as responsive as your health care provider would like to see, you may move on to either a biophyiscal profile (taking a closer look with detailed ultrasound), a stress test (testing to see how your baby responds to contractions) or even delivery.

3-D and 4-D ultrasound

Wednesday, March 2nd, 2011

In 3-D ultrasound, sound waves are scanned across the abdomen to offer three dimensional images that are similar to photographs. 3-D ultrasound images help provide a clearer picture of the baby’s development and can detect facial abnormalities, such as cleft lip or palate, or the extent of a neural tube defect, like spina bifida.

You may have heard of 4-D ultrasound, which is a combination of 3-D still images viewed over time. The result is “live action” images of your developing baby.  It is not available everywhere and is used to take a more in depth view of an image seen in a previous ultrasound. As with other types of ultrasound, it is helpful in analyzing the baby’s age and development. It can detect structural problems with the uterus, placental placement or abnormalities, abnormal bleeding, ectopic pregnancy, fibroids and ovarian tumors. Many high-risk pregnancy centers have this sophisticated, higher resolution technology.

4-D sounds really cool, but it’s important to note that non-medical use of ultrasound during pregnancy should be avoided… no home videos for the sake of sharing your good news. Commercial sites, often unsupervised by physicians, may offer really fun looking “keepsake” fetal images to parents. Be aware, however, that the persons performing these ultrasounds may not have adequate training and may give a woman inaccurate or even harmful information.  So, if you’re really curious, speak with your provider about ultrasound options available to you.

Ultrasound options

Monday, February 28th, 2011

Over the next couple of days, I’m going to write about ultrasound.  There are different types that are used for different purposes and I’ll review them.

Ultrasonography is the most commonly used tool for viewing a developing fetus. Ultrasound has been safely utilized for over 40 years, but only specially trained technicians and providers should perform an ultrasound, and only for medically necessary reasons.

Using sound waves to bounce off curves and shapes within your body, technicians are able to translate light and dark patterns into images of internal organs or a developing fetus. Standard ultrasound creates a 2-D image of a developing baby in mom’s womb. A woman may have a standard ultrasound during the first trimester to confirm and date the pregnancy (or to find out if she’s having twins like her mother did!)  But not all providers offer it that early in pregnancy, so don’t be upset if yours doesn’t. It also can be used to check the positioning of the placenta or level of amniotic fluid later on.

Most providers request an ultrasound between 18 and 20 weeks. The procedure lasts about 20 minutes and can be performed abdominally (by moving a transducer over the belly) or vaginally (using a slender wand-like device that is placed inside the vagina). A full bladder acts like a mirror and helps the technician get a clearer view, hence the recommendation of drinking a few glasses of water before the procedure.  This is great for the tech, but might get slightly squirmy for mom after a while.

Tomorrow’s post – What’s Doppler imaging (nope, not part of the weather report) and fetal echocardiography?

Blood test vs. amniocentesis

Thursday, January 13th, 2011

blood-testsResearchers are working on a new blood test that has the potential to diagnose Down syndrome in women who are at high risk for having a baby with this condition. If proven successful, this test might eliminate the need for the more invasive and risk-related tests of amniocentesis and chorionic villus sampling (CVS).  Both amniocentesis and CVS carry a risk of miscarriage.

A study conducted at the Chinese University of Hong Kong and recently published in the British Medical Journal (BMJ), included 753 pregnant women. Of these, 86 women were carrying a fetus with Down syndrome. There were no false-negative results with the new test. All babies with Down syndrome were detected. The study authors state that “If referrals for amniocentesis or chorionic villus sampling were based on the sequencing test results, about 98% of the invasive diagnostic procedures could be avoided. “

Further evaluation of this technology needs to be conducted before it is offered to the public, but this is exciting and hopeful science.  While the test won’t be available for at least another year, and the cost may be high, and currently it tests only for Down syndrome and not other conditions, it holds promise for the future.  It will be a new and safe screening tool to help us gather information about our developing babies.

Testing for GBS

Tuesday, January 20th, 2009

Next week I’ll be in my 36th week and I start weekly prenatal appointments until the baby is born. The majority of my visits are pretty  routine and include your basic physical: blood pressure, weight, listening to the baby’s heart, and measuring my belly. This upcoming visit however my provider is going to test me for Group B streptococcus (GBS, also called Group B strep).

GBS infection is a common bacterial infection that is generally not serious in adults, but can be life-threatening to newborns. All pregnant women should be screened for GBS at 35 to 37 weeks of pregnancy. The health care provider takes a swab of the vagina and rectum and sends the sample to a laboratory for a culture to test for the presence of GBS. Test results are usually available in 24 to 48 hours. Women who test positive for GBS are treated with antibiotics during labor.

Click here to read the March of Dimes fact sheet on Group B Strep Infection.

Also, the Centers for Disease Control and Prevention (CDC) have a special Web site devoted to Group B strep.