Category: Prenatal Testing

Pregnancy is a time where a woman can feel constantly poked and prodded. The fact of the matter is that the infant mortality rate has indeed declined in the west, thanks in large part to the variety of medical tests and screening procedures that can take place during pregnancy. The second trimester is the time that many of these tests and screening procedures are going to take place. While not every woman will, obviously, undergo every available test and screening that are out there during the second trimester, there are some regular tests and screening that will take place during the second trimester.

You should expect to have several lab tests and screenings take place during the second trimester, for example. It is very likely that your health care provider will want to test your urine for protein and for sugar. Your health care provider may wish to test your blood for low levels of iron, or to screen you for gestational diabetes. The screening for gestational diabetes that takes place during the second trimester is especially important, as recognizing gestational diabetes early is the best way to make sure that the pregnancy progresses in the way that it should.

An ultrasound is a common procedure for you to have during the second trimester. While it isn’t exactly a test, your health care provider will use an ultrasound to verify how your baby is growing, check out where the placenta is, and to look at the baby’s developing anatomy. An ultrasound will probably be performed during the first and third trimesters of pregnancy as well, although at those times your health care provider is looking for different sorts of things than she is looking for in the second trimester.

There are other tests and screening that can take place during the second trimester. You might have a blood test to screen for a variety of disorders in your baby, such as developmental or chromosomal sorts of disorders. If these blood tests indicate a problem, an amniocentesis may be required. Certainly, an amniocentesis is another type of test that takes place during the second trimester that can, with a greater degree of accuracy, screen for developmental or chromosomal disorders.

Pregnancy can be an especially scary time in a woman’s life. You’re constantly worrying about the health of your baby and whether or not your pregnancy will make it full term. The good news is that the vast majority pregnancies do make it full term, but that doesn’t lessen the amount of anxiety that you face.

It’s easy to become concerned about potential complications during your pregnancy. If you’re worried about the health and well-being of your baby, there are a number of prenatal tests that your physician might recommend. Making the decision about whether or not to have these tests is up to you and your partner.

Here are some of the most common prenatal tests that you might be presented with:

• Routine tests. There are a number of common tests that you’re going to undergo during your pregnancy. Blood tests and ultrasounds are the most common, and these tests present no danger to you or to your baby. They are an essential part of monitoring and ensuring a healthy pregnancy.

• Screening tests. Many tests are designed to screen your baby for potential birth defects or other problems. These tests are often performed as blood tests, and they’re designed to look out for chromosomal abnormalities. Most of these tests don’t pose any difficulty to you or your baby either.

• Diagnostic tests. If one of your routine tests or one of your screening tests suggest that there might be a problem, or if you have other risk factors such as age or family medical history, there are more invasive tests that your doctor might want to perform. Some of these tests, such as chorionic villus sampling, do carry a slight risk to you or to your baby, most often in the form of miscarriage.

Whether or not a specific test is worth having during pregnancy is something that you need to discuss with your partner as well as your doctor. The risks posed by certain types of tests are often outweighed by the potential severity of the defect that they are looking for.

Klinefelter syndrome, sometimes referred to as XXY syndrome or 47,XXY is a genetic condition that affects males. Most males normally have one X and one Y chromosome; males that have Klinefelter syndrome have one extra copy of the X chromosome. This chromosomal abnormality can affect sexual development and cause other abnormalities. Klinefelter syndrome appears in about 1 in 750 males. More rare are particular variants of Klinefelter syndrome, in which the male has more than just one extra copy of the X chromosome.

Some men with the extra X chromosome present no symptoms and lead normal lives. Many others, however, may experience a variety of difficulties. Development of the sexual organs may not proceed normally. When the testicles do not develop normally, affected males will likely have lower levels of testosterone. A lack of testosterone can create breast development, infertility, and reduced facial and body hair.

Other problems caused by Klinefelter syndrome can include delayed speech and language development, delayed emotional development, behavioral problems, and increased risk of breast cancer and systemic lupus erythematosus, a chronic inflammatory disease.

Cases in which the male has more than just one extra copy of the X chromosome may cause more severe disabilities, including learning delays, sexual dysfunction, and distorted facial features.

Klinefelter syndrome is not passed on from parent to child. Instead, it typically occurs as the result of an error in the process of cell division that produces sperm or egg. There are no known ways to predict whether this error will occur. Prenatal testing does not typically include screening for Klinefelter syndrome.

Klinefelter Syndrome is typically diagnosed as a boy enters puberty. Early diagnosis can assist greatly, as any social and developmental problems can be addressed sooner, and appropriate educational interventions can be determined.

The primary treatment for Klinefelter syndrome includes hormone replacement. Treatment of the symptoms of Klinefelter Syndrome may, for example, include speech therapy for speech and language delays, or counseling and social skills training for behavioral problems.

Prenatal testing is a relatively common way to check for certain types of abnormalities with your baby. If your healthcare provider is recommending that you have prenatal testing, there’s important questions that you need to think about and ask yourself before you proceed.

While this is true in general, it’s especially important when the tests are designed to screen for conditions that can’t be medically treated.

Here are some of the questions you want to ask:

• What am I going to do with the results of the test? If the results, normal, it can reduce some of your prenatal anxiety. On the other hand, if the results come back and show that your baby may have some sort of birth defect, it can add significantly to your anxiety. It might even have you questioning whether you want to continue the pregnancy.
• How will the results change your prenatal practices? In some cases, a prenatal test may be up to detect a problem that can still be treated while you are pregnant. In other situations, the tests might give a sign to your doctor that you or your baby will need specific attention immediately after birth.
• How reliable will the results be? Some prenatal tests are more accurate than others. Some tests carry a high risk of false negatives or false positives.
• Are there risks involved in this testing? Some prenatal testing procedures, such as amniocentesis, can create a risk of miscarriage or other problems, including pain and anxiety. You have to weigh the risks against the importance of knowing what the results of the test are going to be.
• What expense is involved? Insurance will cover certain types of prenatal testing, but not all insurance covers all types of prenatal testing. You’ll want to check in at a time to see whether or not the particular prenatal test is covered by your insurance plan. If it’s not, then you need to know how much the test will cost so that you can prepare for it financially.

It is your decision

Prenatal testing something that you and your partner have to decide about. Your healthcare provider may have recommendations and advice, but ultimately it is your pregnancy it is up to you whether or not you’re going to pursue this testing.

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• New prenatal genetic tests hold promise, worries (boston.com)

 Amniocentesis is a test that your doctor will use to try to gather certain information about the health of your baby. It involves taking a sample of the fluid surrounding your baby inside the uterus, known as amniotic fluid.

Most of the time, a woman undergoes amniocentesis in order to decide whether her baby has a chromosomal or genetic abnormality. Very often, it’s used to test for Down Syndrome. Amniocentesis is usually done between weeks 16 and 22 of pregnancy.

Here are some of the reasons that amniocentesis is performed:

• To look at your baby’s lungs if an early delivery is being considered due to medical reasons.

• To look for the presence of a uterine infection, which can be harmful to both you and your baby.

• To examine whether your baby is all right in a situation in which you have Rh sensitization. Rh sensitization can occur when your blood type is different from your baby’s. (More and more, however, doctors are using Doppler ultrasound for this situation instead of amniocentesis.

There are a number of defects or disorders that amniocentesis can check for, including:

• Down Syndrome, as mentioned above.

• Other chromosomal orders like trisomy 13 and sex chromosome abnormalities like Klinefelter syndrome. Amniocentesis is nearly 100% accurate at detecting these disorders.

• Identifying other genetic disorders such as sickle cell disease and cystic fibrosis. There are actually several hundred disorders on the list that amniocentesis can identify.

• Neural tube defects including conditions like anencephaly and spina bifida.

There are a number of birth defects that can’t be discovered through the amniocentesis procedure, including things like a malformation of the heart or a cleft palate. However, many of these conditions can be identified during an ultrasound.

There is some risk of a miscarriage with amniocentesis, and therefore it’s not necessarily a routine procedure. While the risk is less than 1%, for most women it’s not necessary unless there is a specific reason to believe that there might be a problem with your baby or your pregnancy.