News Moms Need

Ever 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.

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.

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.

During pregnancy, the placenta attaches to the wall of the uterus and supplies the baby with food and oxygen through the umbilical cord. Placenta previa is a condition in which the placenta lies very low in the uterus and covers all or part of the cervix. (The cervix is the opening to the uterus that sits at the top of the vagina.)

Placenta previa happens in about 1 in 200 pregnancies. If you have placenta previa early in pregnancy, it usually isn’t a problem. It will be monitored, however, because it can cause serious bleeding and other complications later in pregnancy.

Normally, the placenta grows into the upper part of the uterus wall, away from the cervix. It stays there until your baby is born. During the last stage of labor, the placenta separates from the wall, and your contractions help push it into the vagina (birth canal). This is also called the afterbirth.

During labor, your baby passes through the cervix into the birth canal. If you have placenta previa, when the cervix begins to efface (thin out) and dilate (open up) for labor, blood vessels connecting the placenta to the uterus may tear. This can cause severe bleeding during labor and birth, putting you and your baby in danger.

The most common symptom of placenta previa is painless bleeding from the vagina during the second half of pregnancy. Call your health care provider right away if you have vaginal bleeding anytime during your pregnancy. If the bleeding is severe, go to the hospital.

An ultrasound usually can find placenta previa and pinpoint the placenta’s location. In some cases, your provider may use a transvaginal ultrasound instead.

Even if you don’t have vaginal bleeding, a routine, second trimester ultrasound may show that you have placenta previa. Don’t be too worried if this happens. Placenta previa found in the second trimester fixes itself in most cases.

Treatment depends on how far along you are in your pregnancy, the seriousness of your bleeding and the health of you and your baby. To learn more, read our article on placenta previa.

About 1 percent of singleton and about 5 percent of multiple pregnancies (twins, triplets or more) have an umbilical cord that contains only two blood vessels, instead of the normal three. The cause of this abnormality, called single umbilical artery, is unknown.

The umbilical cord is the life-line that attaches the mother and developing baby. Connecting through the placenta, a normal umbilical cord is made up of three blood vessels. One large vein carries oxygen and nutrient-rich blood to the baby and the two smaller arteries carry blood and waste products back to the placenta. The umbilical cord normally grows to about two feet in length, allowing the baby enough cord to safely move around without causing damage to the cord or the placenta.

In a single umbilical artery, one artery is missing. Studies suggest that babies with single umbilical artery have an increased risk for birth defects, including heart, central nervous system and urinary-tract defects and chromosomal abnormalities. A woman whose baby is diagnosed with single umbilical artery during a routine ultrasound may be offered certain prenatal tests to diagnose or rule out birth defects. These tests may include a detailed ultrasound, amniocentesis (to check for chromosomal abnormalities) and in some cases, echocardiography (a special type of ultrasound to evaluate the fetal heart). The provider also may recommend that the baby have an ultrasound after birth. 

The diagnosis of a single umbilical artery does not necessarily mean that the baby will have a birth defect. It does mean, however, that some tests are warranted and that closer attention needs to be paid for the remainder of the pregnancy.

We get questions about fifth disease from time to time. It’s a common childhood illness that’s usually pretty mild, but if you get infected during pregnancy, it may hurt your baby. The good news is that about 6 in 10 adults (60 percent) had the infection as children and if you’ve already had fifth disease, you can’t get it again.  Nonetheless, about 1 in 400 women in the United States gets infected with fifth disease during pregnancy.

Fifth disease is caused by a virus called parvovirus B19. (It’s called fifth disease because many years ago, it appeared fifth in a list of common causes of childhood rash and fever.) It usually spreads through the air from an infected person’s cough or sneeze. People with young children and who work with children (such as child care providers and teachers) are most likely to come in contact with fifth disease and get infected. You can read about symptoms in children and adults at this link.

Most unborn babies are not harmed if their mother gets fifth disease. But some babies do become infected. The virus can make it hard for babies to make red blood cells, which can lead to a dangerous form of anemia, heart failure, miscarriage, or stillbirth.

You can protect yourself from getting infected by washing your hands well after being around children. Be sure to carefully throw away tissues used by children, and don’t share drinking glasses, cups, forks or other utensils with anyone who has fifth disease or who is in contact with someone who has fifth disease.

If you’re pregnant and become infected, your health care provider monitors your pregnancy carefully for problems with your baby. He may recommend that you have an ultrasound once a week or every other week for 8 to 12 weeks. If ultrasound doesn’t show any problems, you don’t need any more testing.  If an ultrasound shows that your baby is having problems, your provider may recommend amniocentesis to confirm the infection. If your baby has fifth disease, chances are the infection will go away on its own. Your provider may monitor your baby’s health during routine prenatal care visits.

While there is no treatment for fifth disease, there may be treatment options for problems caused in a developing baby. In rare cases of severe anemia, sometimes a provider can treat it by giving the baby a blood transfusion through the umbilical cord. If hydrops, a build up of fluid in the baby’s body, forms in the third trimester, the baby is sometimes induced and born early to receive treatment.

Again, the majority of pregnant women do not get fifth disease and, if they do, their babies are not harmed. But if you work in a day care center or are around school aged children a lot, it’s good to know about fifth disease and how to protect yourself.

Babies who are smaller than most other babies of the same gestational age may be called growth-restricted, small-for-gestational age or small-for-date. These babies may be born premature (before 37 completed weeks of pregnancy) or born full term but small. Some of these babies are healthy and are small simply because their parents are smaller than average. Others have low birthweight because something slowed or stopped their growth in the uterus.

About 10 percent of babies are growth-restricted. The good news is that there are steps a pregnant woman can take to help avoid factors that may contribute to premature birth and/or fetal growth restriction. Those factors include:

- Placental problems. These can reduce the flow of blood and nutrients to the baby, limiting growth. 

 - Birth defects. Babies with certain birth defects are more likely to be growth restricted. Also, babies with birth defects are more likely to be born prematurely.

- Previous birth of a growth-restricted baby. This may increase the risk by about 50 percent in another pregnancy.

- Chronic health conditions in the mother. High blood pressure, diabetes, and heart, lung and kidney problems sometimes can reduce birthweight.

- Smoking. Pregnant women who smoke cigarettes are nearly twice as likely to have a low-birthweight baby as women who do not smoke. Smoking slows the baby’s growth and increases the risk of premature delivery.
 
- Alcohol and illicit drugs.  These may limit the baby’s growth, increase the risk of premature delivery and cause birth defects.

Infections in the fetus. Certain viral and parasitic infections, including cytomegalovirus, rubella, chickenpox and toxoplasmosis, can slow the baby’s growth and cause birth defects.

Inadequate maternal weight gain. Women who don’t gain enough weight during pregnancy increase their risk of having a low-birthweight baby.

A health care provider may suspect fetal growth restriction if the mother’s uterus is not growing at a normal rate. He can help confirm this with a series of ultrasounds that monitor how quickly the baby is growing. The provider closely monitors the well-being of a growth-restricted fetus using ultrasound and fetal heart rate monitoring. He also may use a form of ultrasound called Doppler to measure blood flow in the umbilical cord and certain fetal blood vessels. If these tests show that the baby is having problems, the provider may recommend early delivery. In severe cases, this can help prevent stillbirth and newborn health problems.

It is possible that growth restriction before birth may result in problems in adulthood. It may cause lasting changes in certain insulin-sensitive organs like the liver, skeletal muscles and pancreas. Before birth, these changes may help the malnourished fetus use all available nutrients. However, after birth these changes may contribute to some health problems.

The March of Dimes has funded research in the area of fetal growth restriction. Grantees are investigating the role of certain genes in fetal growth restriction, as a step toward developing treatment to prevent this problem or improve the growth of affected babies.

The March of Dimes also promotes the health benefits of smoking prevention and cessation by providing educational materials for consumers  and supporting projects that increase smoking-cessation services available to pregnant women who smoke. Women who quit smoking, avoid alcohol and drugs, control chronic medical conditions and maintain a healthy weight during their pregnancy are doing a great deal to help prevent fetal growth restriction.

Now that you’re pregnant, you’ll be monitored for a bunch of things to make sure you and your baby are as healthy as possible.  What sorts of prenatal tests will you have and when? What’s the doc looking for? Learn what to expect as the weeks go by.

Join us at #pregnancychat tomorrow, Wednesday April 13th, from 3-4 PM EST. We’ll be chatting about prenatal tests from amnio to ultrasound.  Jump in and ask a question or let us know your experience if you’ve been through all this already. See you tomorrow!

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.

A targeted or advanced ultrasound usually follows after a standard ultrasound if the provider has seen something questionable and wants to take a closer look at it. This exam is more thorough than a standard ultrasound and can take from 30 minutes to a couple of hours. Among other things, it provides a more detailed view of the baby’s head and spine and is 95% effective in diagnosing neural tube defects like spina bifida. It includes a full body scan measuring all of the long bones, identifying major organs, including the heart and brain, nose and mouth.

Doppler imaging is a technique that can measure tiny changes occurring within the body, such as the speed and direction of blood flow. Sound waves bounce off moving red blood cells and produce an image of blood flow, something a standard ultrasound cannot do. Women with high blood pressure may receive an ultrasound with Doppler imaging of the umbilical artery to see if the blood flow to the baby or placenta is as it should be or if it is being compromised in some way.

Fetal echocardiography uses ultrasound to take a closer look at a developing baby’s heart. It offers a far more detailed view of the heart and provides information about its structure and rhythm. Women who are at increased risk of having a baby with a congenital heart defect may be offered this scan. It can provide valuable information about the anatomy and function of different parts of the heart, such as the valves, and is often used to rule out a possible problem rather than find one. If a heart defect is found, further body scanning for other possible defects will be recommended. Problems with fetal heart rhythms can be treated during pregnancy but structural defects require treatment, possibly surgery, after the baby is born. Knowing about a heart defect in advance will help ensure the baby is born in a medical center equipped to perform specialized medical treatment on the baby shortly after birth.