There are numerous tests offered during pregnancy to screen for hereditary conditions such as Cystic Fibrosis, Tay-Sachs, Sickle Cell Anemia and more. Second trimester screening for nervous system problems and other chromosome problems are also offered to all pregnant patients. (I have discussed these tests in several accompanying articles on this Web site.) Before having any of these tests performed, however, you and your partner should understand the tests being ordered and the ramifications of the results.
For those of you who carry genes for genetic conditions, the first issue is to understand your risk. Two carriers of a recessive gene (non-dominant) have a 25% chance of having a child with the condition. Remember that you still have a 75% chance of having a normal child. A special needs child requires an immense amount of love and attention. Not every couple is equipped for this responsibility. So, you need to become educated on the condition that might afflict your child and its short- and long-term impact for the baby and for your family. Your obstetrician can give you some helpful information and, if necessary, a referral to a specialist in genetics (geneticist).
Now comes the hard part: what are you going to do with the information you receive? Many of my patients are prepared to care for the baby regardless of the test results. For them, testing may not be in their best interest because there is very little medical assistance available to help their babies while they are in the womb. In my experience, I have found these patients generally don't have these screening tests performed. And for them, this is the correct choice. Others feel quite the opposite and want to know the condition of their unborn child. They should have the tests performed.
In offering advice and counseling, you should understand the doctor's predicament. She/he is obligated to offer appropriate screening tests suggested by the American College of Obstetrics and Gynecology. By following these recommendations, we are offering you the highest quality of medical care. At the same time, we are held to these standards and failure to follow them puts us in a precarious situation: by deviating from the "standard of care", we are subject to legal liability and potential malpractice suits. So, every OB will counsel and encourage you to have the proper tests performed.
Every time a patient opts to skip a recommended test, I am placed under a special burden to ensure they understand the test and the reason it is being requested. Personally, I carefully explain to my patients the reason for the test and document their refusal. When one of my patients refuses a test, I don't feel any anger or resentment toward them; I just want to make sure they are prepared to accept the consequences of their decision.
In the end, you have to live your life by your own beliefs. The doctor is only a guide, trying to provide you with information to make the best choice for you. Please take the time to speak with your health care provider about recommended tests in advance. By being an educated patient, you can make the best choices for your family and your future.
Our parenting advice is given as suggestions only. We recommend you also consult your healthcare provider, and urge you to contact them immediately if your question is urgent or about a medical condition.