Call your doctor or midwife immediately if you:

• Are bleeding or leaking fluid from the vagina
• Have sudden or severe abnormal swelling in the face, hands, or fingers
• Get severe or long-lasting headaches
• Have discomfort, pain or cramping in the abdomen
• Have a fever or chills
• Are vomiting or have persistent nausea
• Feel discomfort, pain or burning with urination
• Have problems seeing or blurred vision
• Feel dizzy
• Sense a change in your baby’s movement
• Suspect your baby is moving less than normally after 28 weeks of pregnancy ( if you count less than 10 movements in 2 hours or less)

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The care that you receive from your doctor or midwife during your pregnancy are prenatal visits. Regular check-ups throughout the 40 weeks of pregnancy will help to keep you and baby healthy, identify problems if they occur, and prevent difficulties during delivery.

Don’t just go to your doctors visits, become a partner with your doctor to manage your care. Keep all of your appointments, each one is important. Ask questions and read information to educate yourself!

The First Doctor’s Visit During Pregnancy

When visiting your doctor or midwife for the first time, you will probably have a pelvic exam to check your uterus (womb) and have a Pap test. Additionally, some doctors use an ultrasound machine to perform an ultrasound to check whether the pregnancy is ectopic (meaning “out of place”). Normal pregnancies occur when the fertilized egg is implanted inside the uterus; while ectopic pregnancies occur when a fertilized egg has implanted outside the uterus.

Other things to expect during the first pregnancy doctor’s appointment are:

• Your approximate due date
• Talking about your health history including previous pregnancies or abortions
• Talking about the health history of family members
• Determining whether you have any pregnancy risk factors based on your age, your health and health history, as well as the health history of your family
• Complete blood tests, including  HIV testing and genetic tests

After the first visit, most prenatal visits will include:

• Checking the baby’s heart rate
• Checking your blood pressure
• Checking your urine for signs of protein in the urine (which could signal preeclampsia)
• Measuring your weight gain

Regular Check-ups

Your doctor of midwife will give you a schedule of your prenatal visits. An average pregnancy lasts 40 weeks and you can expect to see your doctor more often as you approach the end of the pregnancy. A typical schedule includes visiting your doctor or midwife:

• About once each month during your first six months of pregnancy
• Every two weeks during the seventh and eighth month of pregnancy
• Weekly in the ninth month of pregnancy

If you pregnancy is considered high risk due to being over the age of 35 or because you have other health problems like diabetes or high blood pressure, your doctor will probably want to see you more often.

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The best time to receive this test is between 18 and 20 weeks of pregnancy. It lasts between 30 minutes and one hour (depending on the cooperation of your baby). An ultrasound technician will measure your baby from crown to rump, around the middle, and around the head. The four chambers of the heart will be viewed, as well as the kidneys, bladder, stomach, brain, spine, and sex organs.

Most major problems with the way your baby might be formed can be seen at this time. But some problems like clubbed feet and heart defects can be missed on ultrasound. Your doctor also will be able to see if your baby has any neural tube defects, such as spina bifida.

This test is not the most accurate for finding out whether your baby has Down syndrome. Only 1 in 3 babies with Down syndrome have an abnormal 2nd trimester ultrasound. In most cases, your doctor can find out the sex of your baby by using ultrasound.

Boy or Girl?

You can also find out the sex of your baby during the 2nd trimester ultrasound if your baby is in the right position, that is, if your little one isn’t hiding the goods. Many mothers can’t for the moment during the ultrasound to find our whether she’s carrying a boy or girl, while others want a more traditional surprise. There are pros to both, so be sure to tell your sonographer if you don’t want to know whether it’s a boy or girl.

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While you are pregnant your doctor or midwife may suggest a number of laboratory tests, ultrasound exams, or other screening tests. Read on to find out the basics of the most common tests done during pregnancy.

Screening Tests

Screening tests measure the risk of having a baby with some genetic birth defects. Birth defects are caused by problems with a baby’s genes, inherited factors passed down from the mother and the father. Birth defects can also occur randomly in people with no family history of that disorder. Women over the age of 35 have the greatest risk of having babies with birth defects.

The benefit of screening tests is that they do not pose any risk to the fetus or mother. But screening tests cannot tell for sure if the baby has a birth defect. So, they do not give a “yes” or “no” answer. Instead, screening tests give the odds of your baby having a birth defect based on your age. Women under the age of 35 will find out if their risk is as high as that of a 35 year old woman. For women over age 35, screening tests will help them find out if their risk for their age is higher or lower than average.

Some common screening tests used during pregnancy include:

• Targeted Ultrasound
• Maternal Serum MArker Screening Test
• Nuchal Translucency Screening (NTS)

Diagnostic Tests

Diagnostic tests can give definite “yes” or “no” answers about whether your baby has a birth defect. But, unlike screening tests, they are invasive or come with a risk of miscarriage. Amniocentesis and chorionic villus sampling (CVS) are the two most commonly used. Both tests are more than 99% accurate for finding these problems. These tests also can tell you your baby’s sex. In most cases, results take about two weeks.

Common diagnostic tests include:

• Amniocentesis
• Chorionic Villus Sampling (CVS)

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Given between 15 and 20 weeks of pregnancy, this blood test checks for birth defects such as Down Syndrome, Trisomy 18, or open neural tube defects.

How is the test performed?

Your doctor will take a sample of your blood and test it for three chimicals: lpha-fetoprotein (AFP) (made by the liver of the fetus), and two pregnancy hormones: estriol and human chorionic gonadotropin (hCG). Sometimes, doctors test for a fourth substance in the blood called inhibin-A. Testing for inhibin-A may improve the ability to detect fetuses with a high risk of Down syndrome.

What’s Detected and the Results

igher levels of AFP are linked with open neural tube defects. In women age 35 and over, this test finds about 80% of fetuses with Down syndrome, trisomy 18, or an open neural tube defect. In this age group, there is a false positive rate (having a positive result without actually having a fetus with one of these health problems) of 22%. In women under age 35, this test finds about 65% of fetuses with Down syndrome, and there is a false positive rate of about 5%.

Alternative Names

• Multiple Marker Screening Test
• Triple Test
• Quad Screen

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This test is performed between 10 and 12 weeks of pregnancy.

The doctor inserts a needle through your abdomen or inserts a catheter through your cervix in order to reach the placenta. Your doctor then takes a sample of cells from the placenta. These cells are used in a lab to look for problems with chromosomes.

This test cannot find out whether your baby has open neural tube defects.

About 1 in 200 women have a miscarriage as a result of this test.

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In an important recent study, NTS found 87% of cases of Down Syndrome when done at 11 weeks of pregnancy. When NTS was followed by another blood test done in the second trimester (maternal serum screening test), 95% of fetuses with Down Syndrome were identified.

With all screening tests, the results are sometimes misleading. In 5% of women who have NTS, results show that their babies have a high risk of having a birth defect when they are actually healthy. This is called a false positive. To find out for sure if the fetus has a birth defect, NTS must be followed by a diagnostic test like chorionic villus sampling or amniocentesis.

NTS is not yet widely used. If you are interested in NTS, talk to your doctor. If she is unable to do the test, she can refer you to someone who can. You should also call your insurance company to find out if they cover the cost of this procedure. NTS allows women to find out early if there are potential health problems with the fetus. This may help them decide whether to have follow-up tests.

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• ask about your health history including diseases, operations, or prior pregnancies
• ask about your family’s health history
• do a complete physical exam
• do a pelvic exam with a Pap test
• order tests of your blood and urine
• check your blood pressure, urine, height, and weight
• figure out your expected due date
• answer your questions

At the first visit, you should ask questions and discuss any issues related to your pregnancy. Find out all you can about how to stay healthy.

Later prenatal visits will probably be shorter. Your doctor will check on your health and make sure the baby is growing as expected.  Most prenatal visits will include:

• checking the baby’s heart rate
• checking your blood pressure
• checking your urine for signs of diabetes
• measuring your weight gain

While you’re pregnant your doctor or midwife may suggest a number of laboratory tests, ultrasound exams, and other screening tests.

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• About once each month for the first six months of pregnancy
• Every two weeks for the seventh and eighth month of pregnancy
• Every week until the baby is born

If you are over 35 or your pregnancy is high risk because of health problems (like diabetes or high blood pressure), you’ll probably see your doctor more often.

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What Is An Amniocentesis?

An amniocentesis is a prenatal test that is performed by your health practitioner to gather information about your baby’s health and development from a sample of your amniotic fluid, the fluid that surrounds your baby in the womb. During your baby’s growth skin cells are shed that remain in your amniotic fluid along with other substances, such as alpha-fetoprotein (AFP).

During an amniocentesis a small amount of amniotic fluid is removed from the sac surrounding the fetus. The sample of amniotic fluid is less than an ounce and is removed through a fine needle inserted into the uterus through the abdomen, under the guidance of an ultrasound.

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Why Is An Amniocentesis Performed?

There are a few reasons why your health practitioner may perform an amniocentesis:

• To diagnose or rule out a uterine infection.
• You have had an abnormal ultrasound.
• You have a family history of specific birth defects.
• You have previously had a child or pregnancy with a birth defect.
• You will be 35 years old or older at the time of delivery.

Having an amniocentesis presents a small risk to both Mother and baby, therefore the prenatal test is usually offered to women who have a significant risk for genetic diseases.

An ultrasound is performed at the same time of your amniocentesis which will aid in detecting birth defects such as a cleft palate, cleft lip, club foot, or heart defects. Though an amniocentesis is a highly sophisticated procedure, there are still birth defects that may not be detected by either an ultrasound or amniocentesis.

If you are having an amniocentesis, ask to find out the sex of the baby. An amniocentesis is the most accurate way to determine the baby’s gender before birth.

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When Is An Amniocentesis Performed?

Typically an amniocentesis is performed between the fifteenth (15th) and eighteenth (18th) week of pregnancy.

During the third trimester, it is not uncommon to have an amniocentesis if an early delivery is needed for your baby. An amniocentesis will help, in this case, to determine that your baby’s lungs are mature enough for delivery.

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How Accurate Is An Amniocentesis?

Though an amniocentesis may occasionally be unsuccessful due to technical problems like being unable to collect enough amniotic fluid or failure of the collected cells to grow when cultured, the accuracy of an amniocentesis is about 99.4%.

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What Disorders & Defects Can An Amniocentesis Detect?

An amniocentesis is used to detect the following:

• Several hundred genetic disorders including but not limited to, cystic fibrosis, sickle cell disease, and Tay-Sachs disease. An amniocentesis is not used to test all genetic disorders but if your baby is at an increased risk of having one or more genetic disorders, in most cases, an amniocentesis can tell you whether your baby has the disease.
• Chromosomal disorders including Down syndrome, Trisomy 13, Trisomy 18, Trisomy 21, sex chromosome abnormalities (such as Turner syndrome and Klinefelter syndrome). An amniocentesis is more than 99% accurate in diagnosing these conditions.
• Neural tube defects such as spina bifida and anencephaly.

The amniocentesis itself does not detect birth defects such as heart malformations or a cleft lip/palate but the ultrasound during the amniocentesis is used to detect such birth defects.

An amniocentesis can also provide access to DNA for paternity testing prior to delivery. DNA is then collected from the potential father and is compared to the DNA obtained from the baby during the amniocentesis. The results are accurate for determining paternity (99%).

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What Are The Risks of An Amniocentesis?

An amniocentesis is considered to be both a safe procedure and an invasive diagnostic test. With that, potential risks are involved.

• Cramping & Vaginal Bleeding: After an amniocentesis cramping is possible. Some women also experience a small amount of vaginal bleeding.
• Needle Injury: During the amniocentesis your baby may move an army or leg into the path of the needle, serious injuries are rare.
• Rh sensitization: If you have Rh negative blood and the amniocentesis causes the baby’s blood cells to enter the Mother’s bloodstream, you’ll be given a drug called Rh immunoglobulin after an amniocentesis to prevent you from producing antibodies against your baby’s blood cells.
• Infection: Though very rare, an amniocentesis may trigger a uterine infection.
• Miscarriage: An early amniocentesis carries a slight rsk of miscarriage, often due to rupture of the amniotic sac. The highest risk of miscarriage when the procedure is done early in pregnancy, before the two layers of fetal membranes have sealed. However, during the second trimester, the risk of miscarriage is generally considered to be one in two hundred (200).

A genetic amniocentesis is typically offered when the test results of the amniocentesis may have a significant impact on the management of the pregnancy. Make your decision to have a genetic amniocentesis with your health care provider, your genetic counselor, and your partner/family.

Maturity amniocentesis is typically suggested when early delivery would be best for the Mother. With minimal risks, maturity amniocentesis can offer assurance that the baby is ready for birth and the lungs have matured enough for the baby to survive outside of the womb.

If, after an amniocentesis you develop a fever or if vaginal bleeding or uterine cramping lasts more than several hours, contact your health care provider.

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Choosing If An Amniocentesis Is Right For You

Reasoning for testing and not to test varies from Mother to Mother and couple to couple. Performing an amniocentesis and confirming the diagnosis provides you with specific opportunities including:

• Begin planning for a child with special needs.
• Start addressing anticipated lifestyle changes.
• Make a decision about carrying the child to term.
• Pursing potential interventions (i.e. fetal surgery for spina bifida).

There may be reasons that an amniocentesis is not right for you including:

• Being comfortable with the results, regardless of the outcome.
• Personal, moral, or religious reasons about making a decision to carry the child to term is not an option.
• Choosing not to allow testing that poses any risk of harming the developing baby.

It’s important to discuss both the risks and benefits thoroughly with your health care provider before making the decision to have an amniocentesis. Your health care provider will help you evaluate if the benefits from the results could outweigh any possible risks from the procedure.

There is no one right decision to make when considering an amniocentesis. Individual Parents-to-Be have different feelings about what risks are acceptable and thus may arrive at different conclusions.

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What Do I Expect During An Amniocentesis?

An ultrasound will be performed before your amniocentesis begins to measure your baby and check basic anatomy. Some testing centers may perform this ultrasound when you come in for your amniocentesis while others may perform this ultrasound in advance.

During the Amniocentesis Procedure

You will lie flat on an examination table and your belly will be cleaned with alcohol for an iodine solution. Generally, an anesthetic is not used during an amniocentesis as most women report only mild discomfort during the procedure, similar to having blood drawn.

An ultrasound will be used to locate your baby’s exact position and pinpoint a pocket of amniotic fluid a safe distance from both the baby and the placenta.

Once the position of your baby and the placenta has been determined, under ultrasound guidance, your doctor will insert a long, thin, hollow needle through your abdominal wall and into the sac of fluid around your baby.

About an ounce or two tablespoons of amniotic fluid will be drawn and then the needle will be removed. Withdrawing the fluid can take a few minutes but typically lasts only 30 seconds.

Do not worry about the fluid that was removed, your baby will make more fluid to replace what has been taken out.

During an amniocentesis the amount of discomfort you may feel will vary. Some women feel cramping, pinching, or pressure while others feel no discomfort at all. The amount of pain varies for all women and even from one pregnancy to the next.

After the Amniocentesis Procedure

Your health care provider may use the ultrasound to monitor your baby’s heart rate or use an external fetal monitor to listen to the baby’s heartbeat.

You may be advised to rest and may need someone to drive you home from the appointment. Avoid heavy lifting, intercourse, exercise, and air travel for the next one to three days.

From start to finish, the entire procedure typically lasts one hour though most of that time is devoted to the ultrasound.

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What Happens to The Removed Fluid?

Skin cells from the fetus and the amniotic fluid can be analyzed. Cells are separated from the amniotic fluid and grown in a laboratory for 10 to 12 days. The cells are then tested for chromosomal abnormalities or genetic birth defects.

The levels of the protein alpha-fetoprotein (AFP) in the amniotic fluid can be meausred to help diagnose neural tube defects (NTDs). AFP levels are often increased when the baby has a NTD. Results from this test are usually available in a few days.

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When Do I Get The Results of An Amniocentesis?

The full results from the test are typically available within two weeks.

In some cases, you may be given preliminary results while you’re waiting for the skin cells to reproduce in the laboratory. Preliminary results are typically available quickly, often in a couple of days.

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What Happens If a Problem is Found?

If a problem is discovered in your amniocentesis results, you will be offered genetic counseling. Counseling will help give you more information and discuss your different options. Some women opt to terminate the pregnancy while others decide to continue.

Regardless of the route you choose, you may find that you wish to have further counseling or support. Some women want individual support counseling while others find support groups helpful. Be sure to let your health care provider and genetic counselor know if you need more help so that you can be given the appropriate referrals.

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Treating Defects Diagnosed by an Amniocentesis

Using medications, dietary treatments, or surgery health care providers can treat a small number of birth defects diagnosed using an amniocentesis.

Some doctors have diagnosed and treated biotin deficiency and methylmalonic acidemia (life-threatening inherited disorders of body chemistry) before birth, resulting in the birth of health babies. In most cases, however, birth defects diagnosed by amniocentesis cannot be treated before birth.

Prenatal diagnosis may help parents prepare emotionally for the birth if a birth defect cannot be treated before birth. The delivery can also be planned with your health care provider to ensure that the baby has any necessary special care right after birth.

Discuss all options with your heath care provider and/or genetic counselor.

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