When we are pregnant we love to dream about what our baby will look like, whether it will be a boy or a girl, what your birth experience will be like and what it will be like to bring that beautiful, perfect little baby home.  A majority of pregnancies are normal and end with a healthy baby.  However, about 3-5% of pregnancy will result in a child with some sort of birth defect ranging from minor defects like an extra two or finger to major defects like spina bifida.  It isn’t part of the fantasy we all have in our mind but it is a reality.  During your pregnancy your doctor will discuss your prenatal screening options with you.  These screening tests will happen at various stages of your pregnancy and are designed to identify your baby is at an increased risk of certain birth defects.

The conversation with your doctor will likely take place fairly early in your pregnancy. Your doctor will likely just simply provide you with your options and then advising on their recommendations on whether the test would be beneficial to you or not.  The actual decision on whether the testing is done is completely up to you.  Many things need to go into your decision including what you would do with the information.  For example, if you know that under no circumstances would you terminate the pregnancy than you may opt out of the screenings, or if you are one who feels better being prepared for what may be to come you may want to having the screening done so if you happen to get a positive on the screenings you can prepare for a special needs child.  Take the information your doctor provides you, ask lots of questions and discuss your choices with your partner.  There is no right or wrong decision, you have to do what is right for you.

There are a few different types of screening tests, some during your early pregnancy and some later in pregnancy.

During your first trimester your doctor may recommend an early ultrasound and some blood work.  Both these are used to determine if your baby is at and increased risk of having Down Syndrome or Trisomy 18 (another chromosomal defect).

Later in your pregnancy, during your second trimester, your doctor may recommend a triple or quad screening.  These are blood tests that look for three or four substances in your blood.  The measurements of these substances in your blood are then used to determine your baby’s risk of having Down syndrome, trisomy 18 and neural tube defects such as spina bifida.    Second trimester ultrasounds are also used as screening tools to determine the health of the baby and any risk of health issues or birth defects.

The results from the above screenings are not 100% and are often used to determine if further testing, such as an amniocentesis, should be done.  Your doctor will discuss the results of your screenings in detail with you and what your options are.  Be sure to talk to your doctor if you are unsure about what screenings you should have done or if you are unsure of what the screenings are for.

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