Trisomy 18

(I'm bringing this old post back up top because it is one that keeps getting comments as people who struggle with Trisomy 18 search for answers and community)
Warning: In spite of the scientific title, there won't be much science here. However, this is a sad story with gross details, so don't read it if you're squeamish.

Tarik and Caroline were having their second child. Their first was a healthy toddling boy, a lovely combination of their two cultures. Tarik and Caroline were both young, both healthy, responsible professionals on their way up. Naturally, therefore, they got in to the clinic early in the pregnancy. I was the lucky Family Practice resident that "picked them up". I'd get to see Caroline for her prenatal visits, checking her blood pressure, urine, weight and measurements to make sure all was progressing normally. I'd be the one to find the first heartbeat for her, to feel the baby's growth at each visit, to marvel with her as baby rolled and kicked inside her, to advise her about diet and exercise. Routine stuff. We'd meet every month at first, then with increasing frequency near the end. At her 36th week (out of 40 full term pregnancy weeks) I'd turn my pager on 24/7 for her, so that I'd be able to deliver the baby whenever she went into labor.

I loved OB. The miracle of a human baby growing inside another human never failed to fill me with awe. We think we're such hot stuff, such modern, technological super-beings. Our lives are filled with devices, with increasing automation and mechanical sophistication. But when it comes to bearing children, we're animals all the way. What is more bestial, more natural, than growing your young inside you, pushing them out with blood and tears, and nursing them at your teat? We in medicine do our best to technologize this experience with beeping gadgets, powerful medicines and invasive procedures. But at the core, nature is in control, a fact that charges the labor and delivery wards with excitement and fear. Birth can be a miraculous, happy event, and usually is. But it can also be a terrible tragedy, anticipation turning to anguish at the last minute.

Round about Caroline's 15th week, her uterus began to measure bigger than it should. We weren't alarmed at first. Could be mis-measurement. Could be a big kid. Could be twins...twins? There were twins in the family background. Hmmm. Since the large size persisted, we decided to get an ultrasound. Nowadays just about every pregnant woman gets an ultrasound routinely, but back then (a long 17 years ago) we had to have a reason.

By the time she got the scan, she was at 17 weeks. By then, the embryo has become an infant, fully formed but small, with weeks of differentiation behind it and weeks of growth ahead. The scans are highly sensitive, able to discern organs clearly.

There was something wrong with Caroline's infant. The heart didn't look right. There weren't four distinct, regular chambers. Further testing was advised. I met with Caroline and Tarik, gave them what scanty information I had, tried to reassure them or at least postpone panic, and suggested an amniocentesis. We didn't know what the problem was, exactly, or how bad it was. Some congenital heart defects are fixable by the surgeons. Some are not. Some are associated with chromosomal abnormalities, which is why the amnio was recommended. More frightened about the infant's condition than about having an 8" needle stuck in her belly, Caroline agreed.

If you watch crime shows on TV, you probably think that DNA results are available just as soon as the patient gets up off the table. Not so. Caroline and Tarik had to wait two agonizing weeks to discover what they were dreading to know.

The baby had Trisomy 18. An extra chromosome. Three of the #18 chromosome instead of two. Well, so what? Sounds pretty benign. After all, we have what, 46 all together? What's one extra chromosome among friends? Well, it turns out that one little #18 chromosome has more power than all the others put together. It is a tiny tornado, packing a destructive force stronger than life itself.

Half of all babies born with this condition die in the first week of life. 90% of them have heart defects. Most of them have other defects as well, including spina bifida, cleft palate, deafness, joint contractures, and mental retardation. Only an unlucky few survive beyond a matter of weeks, and those don't last much longer. The term that is branded in my brain from our meeting with the genetic counselors is "incompatible with life". Caroline was carrying a child that was incompatible with life. As soon as it hit the outside air, it would begin to die. She. "It" was a she. They could tell that from the genetic analysis too, of course. She was doomed.

After listening, reading, thinking, talking and crying together, Caroline and Tarik told me they decided to terminate the pregnancy. They couldn't face the thought of birthing a baby girl only to watch her die in agony. This was the right decision. I had no doubt, and nor did they. I offered to accompany them to the procedure, and they gratefully accepted.

They went to one of the local abortion clinics for this procedure. The doc there was very experienced in terminations at all stages of pregnancy, though of course most were done much earlier. By chance and good luck, there were no protesters outside the clinic that day. I was prepared to give them a piece of my mind if there were any. Caroline was not the typical abortion patient, and did not deserve to be hassled.

Without much delay, we were shown into the procedure room. Tarik was told to wait in the waiting room, per clinic protocol, making us all glad I had come along. The staff was kind and efficient, helping Caroline gently onto the table, talking in soft voices, explaining and reassuring. Caroline tolerated the procedure very well, holding my hand tightly and breathing deeply as the obstetrician dilated her cervix and removed the infant. Caroline didn't cry, not then.

A termination at 21 weeks is very different from one at 7 or 8 weeks, the usual time an "elective abortion" is done. The early abortions are done with suction, and the "products" just look like so much bloody mush. At 21 weeks, there are organs. There are limbs. There are bones. And the procedure is done not by suction, but by "extraction." Fortunately, Caroline and Tarik were forbidden to look at what was left of their defective baby girl. But I, as a medical provider, was invited into the side room to further my medical education. I had to steel myself, calm my heart, open my scientist mind.

Her little blue hand, curled and lifeless on the surgical towel, is forever wrapped around a tender neuron in my brain. As I looked at the pieces of this ruined life, what I felt was not revulsion or nausea, but a deep sorrow. I knew this was the right choice, the right decision for these parents and for the mutant child, for that's what she was. It was the humane, loving choice for all involved. But that didn't make it easy.

Aching in the depths of my heart, I returned to Caroline. She was resting in recovery now, out of the stirrups, and Tarik was with her. I tried my best to push my own feelings down deep, to put on my doctor face and stay calm. But when Caroline opened her arms for a hug, my humanity came crashing in, and my tears fell with hers.