Posts Tagged ‘prenatal tests’

Is it a boy or a girl?

Friday, August 26th, 2016

its-a-girl-storkFinding out the sex of your baby is such an exciting part of pregnancy. While some people choose to be surprised at the time of delivery, many couples want to know the sex of the baby before they give birth. its-a-boy-stork

XX or XY

Your baby’s sex is determined at the moment of conception.  Of the 46 chromosomes that make up your baby’s genetic material, two chromosomes–one from the egg and one from the sperm–determine your baby’s gender.  A woman’s egg contains only X sex chromosomes.  A man’s sperm, however, may contain either an X or Y sex chromosome.  If, at the instant of fertilization, a sperm with an X sex chromosome meets the egg (another X chromosome), your baby will be a girl (XX).  If a sperm containing a Y sex chromosome meets the egg, your baby will be a boy (XY).  It is always the father’s genetic contribution that determines the sex of the baby.

How can I find out the sex of my baby?

Most women find out their baby’s sex during a routine ultrasound in the second trimester—usually between 18-20 weeks.  Traditional ultrasound is approximately 93% to 100% accurate at detecting the baby’s sex. But, just remember that sometimes the sex is not clearly identifiable from an ultrasound. This is usually due to the position of the baby.

While ultrasound is accurate, if you want to be absolutely certain of your baby’s sex, you would need a diagnostic test, such as a CVS (done between 10-12 weeks of pregnancy) or amniocentesis (done between 15-20 weeks of pregnancy). It is important to keep in mind that these prenatal tests are invasive and are done primarily to diagnose certain genetic conditions, such as Down syndrome.

Another way you may find out if you are having a boy or a girl is through cell-free fetal DNA testing (also called noninvasive prenatal testing or NIPT). NIPT tests your blood for your baby’s DNA to see if he may have certain genetic conditions, like Down syndrome. While this test is not used specifically to determine the baby’s sex, it can provide that information. It can be done after 10 weeks of pregnancy.

Did you find out if you were having a boy or a girl? Did you reveal it in a special way? Let us know—we’d love to hear your stories!

Have questions? Email us at AskUs@marchofdimes.org.

Screening vs. diagnostic testing—what’s the difference?

Friday, June 26th, 2015

DoctorPregnant_zps3ac96800If you are pregnant, you know that every visit to your prenatal care provider involves a number of tests. At each prenatal checkup, your provider checks your weight, blood and urine. But in addition to these routine tests, you will also be offered prenatal tests that can assess your risk to have a baby with certain birth defects.

The American College of Obstetricians and Gynecologists (ACOG) recommends that all pregnant women, regardless of age, be offered prenatal testing for Down syndrome and some other birth defects. There are two different types of tests that you can have: a screening test or a diagnostic test. It’s important to understand the difference between a screening test and a diagnostic test. Screening tests help evaluate the risk for certain birth defects, but they cannot diagnose a birth defect. Screening tests pose no risk to mother or baby. Diagnostic tests are highly accurate at diagnosing or ruling out specific birth defects. However, these tests may pose a very small risk of miscarriage.

Screening tests offered during pregnancy include:

  • Cell-free fetal DNA testing (also called noninvasive prenatal screening or testing): Some of your baby’s cells can be found in your blood. This test uses a sample of your blood to look at your baby’s DNA to check for certain genetic conditions. You can have this test after 10 weeks of pregnancy. This test is not recommended for women who aren’t likely to have a baby with a birth defect or who are pregnant with multiples.
  • First-trimester screening: Using a blood sample and ultrasound measurements, first-trimester screening can tell you if your baby is at risk for some birth defects, like Down syndrome. It is usually done between 11 to 13 weeks of pregnancy.
  • Maternal blood screening: This test measures four substances in your blood to determine the chance that a woman has a baby with certain birth defects like Down syndrome and neural tube defects. The test is done between 15 to 20 weeks of pregnancy.

Diagnostic tests are done by obtaining samples of your baby’s actual cells and therefore are more invasive. Diagnostic testing can detect most birth defects caused by a change in the number or shape of chromosomes. And testing for many inherited disorders can be done as well. However, not all birth defects can be detected.

Some women may choose to have diagnostic testing done instead of screening tests based on their age or family history. Other women may choose to start with a screening test and then, depending on the results, decide whether to have a diagnostic test. Prenatal diagnostic tests do carry a small risk of miscarriage (about 1 in 300-500).

  • Chorionic villus sampling (also called CVS): During this procedure, the doctor removes a small sample of tissue from the placenta. This can either be done transvaginally or transabdominally. You can get CVS at 10 to 12 weeks of pregnancy.
  • Amniocentesis (also called amnio): Your health care provider will use a needle to remove a small amount of amniotic fluid. Amnio is done between 15 to20 weeks of pregnancy.

Remember, all of these tests are optional. Make sure that you discuss your questions and concerns with your health care provider.

Questions? Send them to AskUs@marchofdimes.org.

 

Group B strep infection

Friday, July 18th, 2014

Between 35-37 weeks of your pregnancy your prenatal care provider will test you for Group B strep. Group B streptococcus (also called Group B strep or GBS) is a common type of bacteria that can cause infection.

Many people carry Group B strep—in fact about 25% of pregnant women are carriers.  GBS bacteria naturally live in the intestines and the urinary and genital tracts. It is not known how GBS is transmitted in adults but you can’t get it from food, water, or things you touch. An adult can’t catch it from another person or from having sex, either.  Most people do not even know they are carriers since adults usually show no signs or symptoms related to GBS.

GBS, however, can be passed to your newborn during labor and delivery and it can make your baby very sick. Babies with a GBS infection may have one or more of these illnesses:

• Meningitis, an infection of the fluid and lining around the brain

• Pneumonia, a lung infection

• Sepsis, a blood infection

According to the CDC, in the US, group B strep is the leading cause of meningitis and sepsis in a newborn’s first week of life.

There are two kinds of GBS infections:

1. Early-onset GBS: Signs like fever, trouble breathing and drowsiness start during the first 7 days of life, usually on the first day. Early-onset GBS can cause pneumonia, sepsis or meningitis. About half of all GBS infections in newborns are early-onset.

2. Late-onset GBS: Signs like coughing or congestion, trouble eating, fever, drowsiness or seizures usually start when your baby is between 7 days and 3 months old. Late-onset GBS can cause sepsis or meningitis.

The good news is that early-onset GBS infection in newborns can be prevented by a simple test. During your third trimester, your provider will take a swab of the vagina and rectum. Results are available in a day or so. This test will need to be done in each pregnancy.

If you do have GBS, then your provider will give you an antibiotic through an IV (medicine given through a tube directly into your bloodstream) during labor and delivery. Usually this is penicillin (if you are allergic to penicillin, there are other options available). Any pregnant woman who had a baby with group B strep disease in the past, or who has had a bladder (urinary tract) infection during this pregnancy caused by group B strep should also receive antibiotics during labor.

Unfortunately late-onset GBS cannot be prevented with IV antibiotics. Late-onset GBS may be due to the mother passing the bacteria to her newborn, but it may also come from another source, which is often unknown.

Treatment for babies infected with either early-onset GBS or late-onset GBS is antibiotics through an IV.

Currently researchers are testing vaccines that will help to prevent GBS infections in both mothers and their babies.

If you have any questions about this topic or other pregnancy and newborn health issues, please email the Pregnancy and Newborn Health Education Center at askus@marchofdimes.org.

To know or not to know

Thursday, March 29th, 2012

its-a-boy-storkits-a-girl-storkA 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.

Choroid plexus cysts

Friday, December 3rd, 2010

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 developmental delays 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.

Preeclampsia and HELLP syndrome

Thursday, May 20th, 2010

Today we are pleased to have a guest post from Beth Frazer, a preeclampsia and HELLP syndrome survivor, and a volunteer with the Preeclampsia Foundation.

I remember the first time I heard the word “preeclampsia:” it was November 10, 2008, and I was blissfully pregnant with twins.  Although this was my first pregnancy, I am a practicing attorney with a propensity to research and so considered myself to be an “educated” patient.  I believed that everything was progressing perfectly.  I thought that my headaches, blurred vision, shortness of breath, sudden weight gain, and swelling were all a normal part of pregnancy.  In actuality, however, these were all signs that my kidneys and liver were shutting down, my red blood cells were destroying themselves, and my brain was swelling.

Fortunately, I was scheduled to have a routine OB appointment that day, at which time a urine test revealed that I was spilling protein.  Several hours later I was diagnosed with HELLP Syndrome,  a severe variant of preeclampsia, and was told that I was dying.  Two days later our beautiful twins were born, 20 weeks premature and too small to survive.  My doctor said that, had my OB appointment been scheduled even 48 hours later I would have suffered a massive seizure or hemorrhage.  I had no idea that my symptoms were actually serious warning signs.

I now know that preeclampsia, often described as a hypertensive disorder of pregnancy or by the old fashioned term “toxemia,”  is a known cause of premature births in the U.S. and is a leading cause of maternal and neonatal death.  It is the reason that a pregnant woman’s urine and blood pressure are tested at every OB appointment.  But I never heard of it before.  I was left physically weak, heartbroken, and completely confused.

I set out to learn everything I could about what had happened to me, and figure out whether it would happen again.  In doing so I found the Preeclampsia Foundation,  and I realized that I wasn’t alone.  I found tens of thousands of women have suffered situations similar to mine, most of whom had also been unaware of preeclampsia before their own diagnosis.

I learned that preeclampsia has no known cause, and has no known cure other than immediate delivery of the baby.  If it is diagnosed early enough, however, preeclampsia can often be managed, allowing the pregnancy to progress a bit further and result in better outcomes for both mother and baby.  I studied the signs and symptoms of preeclampsia.  I analyzed the different ways it presents itself, from the classic case of a pregnant woman whose blood pressure creeps up during her third trimester, to more unusual cases like my own.  I researched the latest tests and theories and medical developments.

And, finally, my husband and I met with our Maternal Fetal Medicine specialist (“MFM”), a high-risk OB, to discuss our future.  We discussed the risk factors for preeclampsia, which include a history of preeclampsia, particularly preeclampsia before the third trimester.  I underwent testing and learned that I might have blood-clotting disorders, which might also put me at risk for preeclampsia.  Nonetheless, my MFM felt that awareness and treatment of these risk factors would allow us to successfully manage a future pregnancy.

Armed with the blessing of my MFM and knowledge of preeclampsia’s signs and symptoms, I became pregnant again.  Those first few months were terrifying and anxiety-ridden.  My MFM monitored my blood pressure, blood work, and urine protein levels constantly, as well as the development of my baby– first every other week, then every week, then twice a week.    Being informed empowered me, and I was reassured knowing that I recognized those symptoms that needed to be reported and acted upon.

We all held our breath as slowly but surely milestones were met.  First, 20 weeks, when I previously developed preeclampsia, then 24 weeks: viability.  Then 28 weeks.  Then 30 weeks and 32 weeks, then 34. . .

And, urprisingly, preeclampsia never developed!  I sit here now with a beautiful baby boy snuggled up on my lap.  Born full term and healthy, he is a true testament to the power of preeclampsia education and awareness.

It is possible to have a healthy mother and baby after a preeclampsia diagnosis, or even after a preeclamptic pregnancy!   The key is to not only receive regular prenatal care, but also be your own advocate.  Know the signs, know the symptoms, know your body, and trust yourself.

Screening for birth defects

Tuesday, September 9th, 2008

At my last prenatal appointment I had a combination of tests done to screen for birth defects such as Down syndrome and Trisomy 13 and 18. I was nervous going, but my husband was with me for support. My visit started with an ultrasound. The doctor rubbed a hand-held device (called a transducer) across my belly. The baby was face up and the doctor needed him/her to turn to the side in order to measure the thickness at the back of the neck (called nuchal translucency).  We waited and waited, but he/she wouldn’t budge. I certainly didn’t mind because I was able to admire the beautiful image on the screen longer.

After several minutes, the doctor finally called for a nurse. She brought me a very sweet orange drink and the doctor said he would be back in less than 10 minutes. I was thinking, “yeah right, this isn’t going to work.” Well, wouldn’t you know it. When he came back and put the transducer on my belly, there it was — the most perfect profile. I guess the baby just needed a little energy. Using the mouse on the ultrasound machine, he was able to measure the back of the neck.

Then I was passed off to the nurse who took a blood sample. I don’t know if this is always the case with maternal blood screening, but she pricked my finger and placed about 5 or 6 drops of blood on a card. The office sent the blood sample to a lab and I would get the results back in about four days. The lab calculated my risk of chromosomal birth defects, using the combined results of my blood test and ultrasound exam.

I received a call a few days later. I was told that based on my age, blood work and ultrasound my risk for Down syndrome was 1 in 1, 610 and my risk for Trisomy 18/13 was 1 in > 10,000. I know that no test can gaurantee the birth of a healthy baby, but I was so relieved. It’s always nice to here reassuring news. Waiting for test results can be so stressful.

ABC’s of a healthy pregnancy, H-Q

Thursday, July 17th, 2008

Continuing our post on the ABC’s of a healthy pregnancy A-G (July 10), here are guidelines H-Q to help increase your chances of having a healthy baby.

H:  History can teach us a lot! Understanding your family history can make an important difference in your life and the lives of your children.

I:  Iron is a mineral that helps create red blood cells, which are needed to carry oxygen to your baby. Be sure to get enough iron in your diet to prevent getting anemia.

J:  Join a childbirth education class to help you understand what to expect during labor and birth.

K:  Keep you and your baby safe during a disaster by planning ahead of time. Prepare for a disaster by making a list of medications you’re taking and having a handy contact sheet with your health provider’s information.

L:  Lots of back pain? Backache is one of the most common problems for pregnant women. Avoid heavy lifting and standing for long periods of time. Wear comfortable shoes and consider a pregnancy massage to ease some of your pain.

M:  Medical conditions, such as gestational diabetes and high blood pressure, should be carefully monitored by you and your health provider. Also, talk to your provider about any medications that may need to be adjusted during pregnancy.

N:  Nausea is very common during pregnancy and certain foods can trigger the feeling. Try substituting other nutritious options for the foods that make you feel ill. Eat 5-6 small meals a day, rather than three large ones.

O:  Oh, baby! Get ready to care for your baby before you bring her home from the hospital. Choose a health provider for her and make sure your home environment is all set and safe for your new baby.

P:  Prenatal care is essential for having a healthy baby, so be sure to make all of your visits. During these appointments, prenatal tests will be given to help your provider know how you and your baby are doing.

Q:  Quit bad habits such as smoking and drinking. Smoking can cause your baby to grow more slowly and gain less weight in the womb. Drinking alcohol while pregnant can lead to fetal alcohol syndrome, which can cause your baby to be born with both physical and mental birth defects.

Visit us next Thursday for the final part of our series, the ABC’s of a healthy pregnancy R-Z.