An amniocentesis involves the doctor taking a sample of the amniotic fluid that surrounds your baby in the womb. The sample is obtained with a long, thin needle. The test is generally used to detect possible birth defects or chromosomal abnormalities.
The amniocentesis is generally used to detect genetic disorders, such as:
* Chromosomal disorders like Down’s Syndrome and others. The test is about 99% effective at detecting chromosomal abnormalities.
* Cystic Fibrosis
* Huntington’s Disease
* Sickle Cell Disease
* Neural Tube Defects
* Tay Sachs Disease
The test is generally done between 15 and 20 weeks gestation. It’s not routinely offered to all women because it carries a risk of miscarriage. This risk is about one in two hundred, but varies according to the practitioner performing the test. If you have an amnio, ask about the doctor’s rate of complications.
In most cases, the test is only offered to women considered to be at an increased risk of a problem with the baby. Some reasons an amniocentesis may be offered include:
* Women who have had a baby with a birth defect in a past pregnancy.
* A family history of a specific genetic disorder.
* Both parents are carriers of a specific genetic disorder.
* The woman is over the age of 35. There is a higher risk for some chromosomal disorders, such as Down’s Syndrome among women over 35.
* A positive result on the triple screen blood test or suspicion after an ultrasound. The amniocentesis is more effective at diagnosing some conditions than either of these tests.
When I was pregnant with my second daughter, I had an amniocentesis. I had done the triple screen blood test and the results came back showing an increased risk of Down’s Syndrome. We had never considered having this test done, but when faced with the possibility of a chromosomal disorder, I just had to know.
We never considered not having our daughter, but not knowing if she was healthy was very stressful. I decided to go ahead with the test. The doctor who performed the test was very experienced in the procedure. A doctor who does more than fifty amnios each year often has a lower rate of miscarriage than a less experienced practitioner.
On the day of the test, the doctor did an ultrasound to locate a pocket of fluid that was not too close to the baby. Then, he inserted a long needle into my abdomen and drew out some of the fluid. I remember being very scared that something would happen and I would lose our baby. The doctor could see my fear and was very reassuring. When he finished the procedure, he did another ultrasound to check for leaking fluid and show me that the baby was fine.
We had to wait two weeks for our results. During this time, I did a lot of research into Down’s Syndrome. I found a pediatrician specializing in Down’s, an early intervention program, a special preschool and a parent support group. My husband thought I had lost my mind. He kept telling me, “She’s probably fine!” I didn’t care. I had to be prepared, just in case.
In the end, he was right. Our daughter was completely healthy. If you decide to have an amniocentesis, keep in mind that 95% of the time the baby is healthy. For my third and now my fourth pregnancy, I chose to decline the triple screen blood test. It wasn’t worth the stress for me.