Preparing for Pregnancy

Women who are trying to conceive should go to a hospital clinic to be tested for sexually transmitted diseases and to make sure they are up-to-date with their vaccines. If you are taking prescription medicine, you will want to talk to your doctor about your conception plans and discuss any potential risks.

If you are planning on becoming pregnant or are already pregnant, it is best to quit smoking and abstain from alcohol and drugs. Also, eat a healthy prenatal diet and get plenty of rest and exercise.

If you suspect you are at risk for birth defects due to illness or other health condition, you should talk to your doctor about prenatal screening and testing. In some cases, preimplantation genetic diagnosis may be performed.

Screening and Diagnosis of Birth Defects

There are several types of tests now available for pregnant women including screening, diagnostic testing and genetic testing. Some of these tests may be a part of your routine testing, which can include testing of your blood, urine and blood pressure. If your health care provider suspects that your baby may be at risk of birth defects, you will be asked if you would like to have an amniocentesis or chorionic villus sampling test performed.


Amniocentesis (also known as amniotic fluid analysis) is when a doctor draws a sample of amniotic fluid from a woman’s womb to test for abnormalities in the chromosomes and genes. Usually conducted between the 15th and 20th week of pregnancy, this test can reveal if your baby has Down syndrome or spina bifida. However, it also increases your risk of miscarriage slightly (about 0.5%).

Chorionic Villus Sampling

Chorionic villus sampling (CVS) is when a placenta sample is taken from your uterus to be tested in a laboratory for birth defects. Done between the 8th and 12th week of pregnancy, this test can detect genetic abnormalities such as Tay-Sachs disease and Down syndrome. Like amniocentesis, though, you risk of miscarrying is slightly increased by having the test performed.


Table of Contents
1. Fetal Anatomical Defects
2. What can go wrong
3. Suspect a birth defect?
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