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.

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.

A while ago, someone wrote in to the March of Dimes with a wonderful idea. She was pregnant, and was on her way to the doctor’s office for an ultrasound where the sex of her baby would most likely be revealed. However, she and her husband were not yet ready to know if it was going to be a girl or boy.  But, they would want to know sometime before the baby was born…just not that day. Also, they had envisioned that the day they learned the sex of their baby would be somewhat more special, and not something that would occur in a doctor’s office. So, they came up with this novel idea that I thought was worth sharing.

They suggest you have the ultrasound tech or doctor write the gender of the baby on a piece of paper, and seal it in an envelope.  Then, on a special occasion (Christmas morning, Valentine’s Day, anniversary, birthday, etc.), you would open the envelope together or with the family or friends of your choice, and celebrate.  You control when, where and how you learn the momentous news. This gives you the ability to make an occasion out of learning the sex of your baby, but still gives you time to paint the baby’s room pink or blue before the baby’s arrival.

It seems like such a simple, obvious idea, yet I had never heard it before.  Hopefully, it is something worth passing on to anyone who is pregnant and is wondering if they should ask to know the sex at the ultrasound visit.

But, just remember that sometimes the sex is not clearly identifiable from an ultrasound due to the baby’s positioning or the ultrasound technician’s skill.  To be absolutely certain of the sex, you would need a diagnostic test, such as a CVS or amniocentesis.  With these tests you might be able to let your doctor know in advance not to reveal the sex to you at the time he/she receives the test results. 

But, then again, if you are particularly stressed about knowing the baby’s sex, or you simply want to hear the words “it’s a girl!”  or “it’s a boy! “ after your hours of labor and delivery, there is always purple or yellow paint.

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.

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!

Researchers 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.

Sometimes technology can be a double-edged sword.  For instance, we all love seeing those first ultrasound pictures of our babies—it is so exciting and amazing!  But ultrasound can also show us things that may or may not have consequences.  Choroid plexus cysts are an example. 

The choroid plexus is the area of the brain that produces the fluid that surrounds the brain and spinal cord. This is not an area of the brain that involves learning or thinking. Occasionally, one or more cysts can form in the choroid plexus. These cysts are made of blood vessels and tissue. They aren’t a problem by themselves and they do not cause mental retardation or learning problems.

Using ultrasound, a health care provider can see these cysts in about 1 in 120 pregnancies at 15 to 20 weeks gestation. Most disappear during pregnancy or within several months after birth and are no risk to the baby.

However, if choroid plexus cysts are present and maternal blood testing (such as the quad screen) and/or the ultrasound itself shows other signs of risk, together it may all indicate a possible genetic defect. In this case, testing with higher-level ultrasound and amniocentesis may be offered to confirm or rule out serious problems.

Hearing your baby has choroid plexus cysts can be scary but don’t panic!  Just remember that most of the time this is a benign finding and does not mean that there is a problem.

Chorioamnionitis is a bacterial infection of the amniotic fluid and membranes that surround a developing baby. This can cause potentially dangerous infection in both the mother and baby. It is important for a pregnant woman to receive treatment for this infection because it is thought to be a major cause of preterm premature rupture of the membranes (PPROM) and premature birth.

Symptoms of chorioamnionitis include a high fever, uterine pain, rapid heart rate in mother and/or baby, nasty smelling vaginal discharge or leaking amniotic fluid, and increased white blood cell count.  Since there is no simple test to confirm chorioamnionitis, it is important that a pregnant woman report any of these symptoms to her health care provider right away. Diagnosis of this infection may require amniocentesis.    If chorioamnionitis is diagnosed, antibiotics will be given to the mother, delivery may be scheduled immediately and then antibiotics will be given to both mom and baby after delivery.

Chorioamnionitis occurs in roughly 1 to 2 percent of all pregnancies.  Women who have had it in a previous pregnancy are at increased risk of having it again in a future pregnancy.

For those of you who are pregnant, sometime between 15-20 weeks of pregnancy, you will be offered maternal serum screening.  What is this?  And more importantly, what do the results mean?  I think maternal blood screening is one of the most misunderstood tests in pregnancy.  And for some women it can be a very nerve-wracking experience. 

The American College of Obstetricians and Gynecologists (ACOG) recommends that all pregnant women regardless of age be offered a screening test for Down syndrome and certain other birth defects.  This is a blood test that looks at the levels of either 3 or 4 (depending on the test) chemicals that are present in a pregnant woman’s blood.  The chemicals are AFP (alpha fetoprotein), hCG (human chorionic gonadotropin—the same chemical that a home pregnancy test measures), estriol, and recently most labs have added a fourth substance, inhibin A.  These chemicals are present in every pregnant woman’s blood.  Some of them are produced by the fetus while others are hormones produced by the placenta. 

Maternal serum tests such as the triple screen or the quad screen as they are commonly called, look at the levels of these 3 or 4 chemicals in the mother’s blood and the woman’s age, weight, race, number of fetuses (e.g. twins) and whether she has diabetes that requires insulin treatment.  Then given all of those factors and the levels of the 3 or 4 chemicals the laboratory can determine the chance that a woman has a baby with Down syndrome, a neural tube defect (spina bifida), trisomy 18, or abdominal wall defects.

There are two different ways that the results may be reported.  A woman may receive her test result as a ratio. For example, her baby has a 1 in 500 chance for Down syndrome. Or, in some cases, a woman’s test results are reported as normal (screen negative) or abnormal (screen positive), depending on whether her results fall below or above a cut-off point (usually about 1 in 270).

The test is NOT a diagnosis of any of these conditions though.  This is where there is a lot of confusion.  By definition, screening tests do not diagnose a condition.  They only determine whether there is an increased risk for the condition.  The good news is that of all of the women who screen positive, only a small percentage will actually have a baby with one of these disorders.  Many times women have an abnormal result simply because their fetus is a few weeks older or younger than previously thought.  

For women with abnormal results, the next step is usually an ultrasound. This test can check the gestational age of the fetus and show if a woman is carrying multiples. If either of these factors accounts for the abnormal test result, no further testing is needed. If ultrasound does not explain the abnormal test result, amniocentesis will be offered.  An amniocentesis is an invasive test where the doctor uses a needle to remove some of the amniotic fluid around the baby.  Although amnio does pose a very slight risk of miscarriage (1/4 of one percent or 1/500), it is extremely accurate and usually can give a pregnant woman a definitive answer.  Should a problem exist, arrangements can be made in advance for special care of the newborn at delivery.