Abnormal screening scares

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Of all the things I lost sleep over when it […]

belly_hands_whiteOf all the things I lost sleep over when it came to pregnancy number three, I never thought a phone call would be one of them. No, I’m embarrassed to admit I worried about whether, if the baby was a girl, she would be as beautiful as her sister. I agonized over whether we should go ahead with a circumcision, if the baby was a boy, despite the vacillating I did over the same decision for his brother. I wondered whether I’d be able to avoid stretch marks again and how bad my spider veins would get. And then my doctor called with the news that brought all my frivolous fretting—and everything else, in fact—to a screeching halt.
“I told you I’d call if there was anything abnormal with your blood work,” she said calmly. “I just got the results, and your baby tested positive for Down syndrome.” I felt immediate, out-of-control panic as she continued, telling me that nothing was confirmed and that the test was merely intended to screen for increased risk. Our odds had jumped from about 1 in 600 based on my age alone to a very scary 1 in 86—brand-new territory after my two previous and perfectly uneventful pregnancies. She referred me to a specialist, whose office called just moments after hanging up with my OB. The specialist’s receptionist was quietly professional. Come 15 minutes early. No children allowed in their offices. Plan to be there for at least two hours.
Fast-forward to the pleasantly bland waiting room the next morning, where I sat clutching my husband’s hand, trying not to look at the other couples in the room or wonder what potential problems had landed them in the same office. Based on the call with my doctor and a well-meaning friend who had explained that the “exact same thing” happened to her cousin’s best friend’s stylist—plus some truly ill-advised internet research—I assumed the appointment would involve an ultrasound to measure the nasal bone of my 16-week-old baby, which would tell us whether our baby actually had Down syndrome.
Instead, we spent the next two hours with a young woman, a genetic counselor, who calmly explained why we were there
and what options we had. She went through the reasons the maternal serum screening, or quad test, can be flagged as abnormal and pointed out that while our odds had increased following the test, our risk factor was still low. Specifically, the odds against the disorder were 85 to 86—a 98.5 percent chance that all was well. Still, there was clearly cause for concern—otherwise, why would we have needed to come in?
The counselor explained that if we wanted to know absolutely, with a 99 percent accuracy rate, I could have an amniocentesis. The doctor would use a long, thin needle to withdraw a sample of amniotic fluid, which would be sent to a lab and examined for chromosomal abnormalities. She told us the miscarriage risk associated with the procedure was quite low, about 1 in 1,200 to 1,600, which was news to me. When I had discussed amnios with my girlfriends, casually saying it was something I’d never do, I thought the risk factor was much higher, about 1 in 300 or 400. These were better odds, but the whole concept still sickened me. Not knowing whether our baby had Down syndrome was a terrible, powerless feeling, but the idea of knowing definitively felt just as scary. We weren’t prepared to make a decision like this, and we went around and around in that little room, trying to figure out what to do.
Eventually, it came down to this: We already loved our baby and Down syndrome wasn’t going to change that. But if the presence of this genetic disorder was going to affect the prenatal and postnatal care, we needed to know. And so, with tremendous anxiety, we decided to proceed.
The plan was to do the amnio right then and there, but the ultrasound showed that my uterine lining had yet to fuse, which could cause potential complications. The doctor recommended waiting until the following week, which gave us more time to agonize over our decision and endlessly consult with relatives and friends. Everyone meant well, but the stunned disbelief and blanket assurances that “everything would be just fine” only made things worse. With every story shared—in which someone’s friend or cousin or dentist had an amnio and the results were unfailingly negative—I remember thinking our odds for a positive test result went up.
As it happened, we would return to the specialist’s office twice more without success. These delays were caused first by a potential bleeding disorder that I have, and then by an attack of conscience and nerves that left me unable to proceed. The exhaustive discussion had finally taken its toll. What ifI let them do this, and I lost my baby because of it? Wasn’t it my job as a mother to take care of my child and didn’t that include not taking unnecessary risks?
I left the specialist’s office for the third time expecting to feel relief, but instead I felt as though I had made a mistake. Driving home, we decided that no matter what happened, our intentions were good. We wanted to know whether our baby had Down syndrome for one reason only: so that we could provide him or her with the best possible care, whatever it may involve. Pregnancy in and of itself is a risk, and being in a position of knowledge seemed like a good place to be.
The very next day, two weeks after my doctor’s initial phone call, I had the amnio. It was quick but painful, and I conscientiously followed directions to rest afterward for 48 hours. The doctor told me to expect mild cramping around the injection site, and that if there were any serious problems, they’d likely show up within the first 12 to 24 hours or manifest as flu-like symptoms in six or seven days. Thankfully, I experienced no side effects at all. We were told that results would take 10 to 14 business days. And so we waited and worried and went through the motions of our busy daily life, all the while imagining a future with variables we had never even considered.
Fourteen business days later, a Wednesday, my cellphone rang as I pulled into the driveway with a car full of kids and dogs. I didn’t recognize the number and my hands shook as I answered. It was the specialist’s office, and the woman on the phone was quick and to the point. Our results were in. Negative. And we were having a boy.
For exactly one month, we carried the strain, anxiety and sheer weight of the unknown, and just like that, it was gone.
Our baby was healthy, and it was a blessing I appreciated in an entirely new way. All the rest of my worries—girl, boy, circumcision or no, and the thousand other things that had once seemed like such cause for concern —they were just minor details.
Helping hands
Where to find the support you need if a screening scare becomes reality.
American Pregnancy Association
Chromosome Disorder Outreach
Cystic Fibrosis Foundation
National Down Syndrome Society
Klinefelter Syndrome and Associates
National Organization for Rare Disorders
Save Babies Through Screening Foundation
Spina Bifida Association
Support Organization for Trisomy18, 13 and Related Disorders
Turner Syndrome Society of the United States

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