Amniocentesis

An amniocentesis (amnio for short) is an invasive test that prenatally determines the chromosomal makeup of a baby. We passed on one early in the pregnancy because we were fairly certain we wouldn't change anything regardless of the results.

Well after the doctor finished the anatomical scan and explained what his concerns were, we were asked once again if we wanted to have an amnio done. The doctor did not recommend that we accept or decline, but he did offer some information we were in no way prepared for.

For the first time, we were forced to consider the possibility that this baby had Trisomy 18 - a considerably more severe disability than Down Syndrome (Trisomy 21). Some of the concerns the doctor was seeing on the ultrasound were: choroid plexus cysts on the baby's brain measuring larger than normal, fingers that overlapped one another, shorter measurements of longer bones, and most concerning - a Ventricular Septal Defect : A hole between the lower chambers of the heart which prevents the heart from pumping blood correctly. All of these things, we were told, were consistent with a chromosomal defect. At this point, we decided that we needed to have the amnio.

The test itself took only a few seconds. Neither of us watched the needle - just the monitor where the baby was still on the screen. We were told the results would take a few days.