Triploidy Syndrome: How to Cope with a Devastating Pregnancy Prognosis

My world suddenly collapsed around me when I heard my doctor say, "There may be a problem with your baby."

I was 20 weeks pregnant, and I had just gotten my last ultrasound done when I got the shocking news. In a blur, I heard the doctor say something about a perinatologist and a level II ultrasound. One week later, my husband and I sat in the perinatologist's office, waiting to hear a diagnosis for our unborn baby.

We were led down a long hallway, and into a dark room where the level II ultrasound was performed. We saw the baby's heartbeat, and learned that it was a boy! We had the technician print out a few pictures for us. After the ultrasound was completed, we waited for what seemed like an eternity for the doctor to come in and interpret the results.

Our doctor could not have been kinder when he told us that he was concerned over the measurements of our son. He said that our baby had some physical characteristics that were indicative of a triploidy. It was the first time we heard the word "triploidy," but we soon became very familiar with this condition. Our doctor performed an amniocentesis that same day, because it was the only way to determine 100% any genetic problems.

As we waited the next 2 weeks until the results of the amniocentesis were revealed, I began to research triploidy pregnancys as best I could, but found the process difficult because there wasn't much information out there to be found.

Every cell in the human body has 46 chromosomes; 23 that were given by the mother, and 23 given by the father. The only cells that do not contain 46 chromosomes are the egg and sperm. These two cells each contain 23 chromosomes, which combine at conception to form the two sets that are compatible with life. A triploidy occurs when there are three sets of chromosomes; normally there are only 2 sets present. A triploidy can occur in three different ways; a single egg can be fertilized by two different sperm, or if there was a problem during meiosis, a sperm or an egg can carry an extra set of chromosomes.
Triploidy is not compatible with life.

The name triploidy is derived from there being 3 sets of chromosomes, or 69 total. A diploid is 46 chromosomes, whereas a haploid (egg and sperm) are called haploid. When conception occurs, the 23 pairs of chromosomes combine to create life. Of the 23 pairs, 22 are autosomes (non-sex chromosomes,) and 1 pair is for sex-determination. Females have 2 "X" chromosomes, shown as a 46XX, and males have 1 "X" and 1 "Y" chromosome, or a 46XY. In a triploidy, you can have a 69XXX, 69XXY, or a 69XYY, depending on the way the triploidy occured.

Triploidy occurs in approximately 2% of pregnancies, and is most often associated with first trimester spontaneous miscarriages. Because these miscarriages often go undiagnosed, most doctors believe that the actual incidence of triploidy is much higher than any studies have shown. Triploidy is an accidental occurance, and is not caused by anything that either parent could have controlled, which unfortunately does not alleviate much pain from the parents conscience when they are faced with such a diagnosis. One fact that we held onto was that the incidence of triploidy has nothing to do with maternal age, meaning there is no increased risk as the mother gets older. In addition, since this is a spontaneous event, there is no increased risk to future pregnancies if you have a triploidy.

There are a number of birth defects that are associated with triploidy, but they vary widely from case to case. Included in these are syndactaly of the fingers and toes, heart defects, neural tube defects, small head, hydrocephalus, cleft lip, kidney malformation and abdominal defects. Often the fetus measures smaller than the gestational age, as was the case in our situation.

As we began researching the occurance of triploidy, the doctor called to give us the news. Our son was indeed a 69XXY baby, or a triploidy. We had done the research, and knew that while an overwhelming majority of triploid pregnancies did not make it full-term, there were a few women that have given birth to babies that were triploids. In fact, the longest reported survival was 10 months, but we understood that case was extremely rare. Our doctor gently discussed all options with us, including allowing the pregnancy to continue with the understanding that my risk of health issues was elevated, or to terminate the pregnancy. He gave us two weeks to make our decision.

In the next two weeks, we chose a name for our son- Gabriel Joseph. We spent every moment enjoying him, and even though we couldn't physically hold him, we felt his kicks and movements. We read stories to him, sang him all our favorite songs, and reminded him over and over again how much he was wanted. Above all, we told him he was loved......so very loved.

Gabriel Joseph went to be with the Lord on March 11, 2001, when I was just 24 weeks pregnant. I still think of him daily, and my love for him will never diminish. His ultrasound photos are in our family photo album, right next to my other son (born perfectly healthy, 2 years after his older brother.) Gabriel will never be forgotten by our family, and I can only hope that his story can be a comfort to other families that are enduring the heartbreak of a triploidy.