Prenatal Testing | Fit Pregnancy

Prenatal Testing

Here’s an in-depth look at the screening and diagnostic tests you might undergo, and how some real couples dealt with the decisions and emotional issues involved.

Working with Limited Information: “It was very scary, and we immediately starting having this what-will-we-do-if-there’s-something-wrong talk.”

Northern California couple Sheila and Ethan Cooperman (not their real names) were expecting their first child, and they decided to have an amniocentesis at 16 weeks because of Sheila’s age, 35.

“The doctor called 2 ½ weeks after the test and told us there was an abnormal test result and we needed to come in to discuss it,” Sheila says. The Coopermans were told that a genetic mutation had occurred in about 15 percent of the baby’s cells, yet it couldn’t be determined how severe any effects would be. “We knew something had gone wrong, but we didn’t know what,” Sheila says. “If the cells affected were in the brain, the baby could be severely retarded. If they were in the elbow, the baby could have a big mole.”

Because no other diagnostic tests were available, Sheila and Ethan opted to have a detailed ultrasound. While waiting for the appointment, they started doing some serious soul-searching. “Those three days were hell,” Sheila recalls. “We had to have discussions like what if the baby has one arm and two legs? No arms and no legs? Mental retardation?” The couple eventually decided that if they thought their child had a chance at happiness, they would continue the pregnancy.

The ultrasound showed no obvious defects, and today their daughter Renee is 13 and completely healthy. The couple always have a bit of fear hanging over their heads about what might unfold in the future. “But when Renee was born, we vowed that we would rejoice in normal,” Sheila says. “If she had tantrums, if she was an average student, whatever: Hallelujah!”

A Heartbreaking Decision: “It was incredibly difficult for both of us, but we felt the only thing we could do was terminate.”

Rhonda Berg, then 32 and pregnant with her first child, had a screening test at 16 weeks, and the results indicated that the baby had a slightly elevated risk of a neural-tube defect. Even though he assured her that everything was probably just fine, her doctor recommended that she get an ultrasound and an amnio.

Before their ultrasound the next day, Rhonda and her husband, Alex, who live in Pennsylvania, met with a genetic counselor; she also was reassuring. But the reassurance was short-lived. “The perinatologist became very quiet as he did the ultrasound,” Rhonda says. “Then he switched off the machine, took a deep breath and told us that he was sorry, but the baby had a very bad defect of the spine.

“I started shaking and crying,” Rhonda recalls. “Alex tried to comfort me, but what could he do?” An amniocentesis confirmed that the baby had severe spina bifida, with significant brain involvement as well. “We felt the only thing we could do was terminate, but it was such a terrible, heartbreaking decision,” Rhonda says.

It took two years before the Bergs felt ready to try for another baby, and for several months beforehand, Rhonda took very high doses of folic acid daily. “I was so scared to have an ultrasound during that pregnancy,” she says. “But the doctor knew our history and was grinning from ear to ear when he told us our baby was just fine.” Happily, the Bergs had a healthy son 12 years ago, followed by healthy twins nine years later.

Stress Less! The truth about your top 10 pregnancy worries fitpregnancy.com/worrylist.

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