In the Beginning

Choosing or Refusing First Trimester Screenings

By Katherine Bontrager

When Jamie Mushlin discovered she was pregnant, she sought to do what many mothers-to-be do: become as informed as possible so she would have a healthy, happy pregnancy leading to a similarly happy, healthy baby.

Along that path of preparation, she opted to do something slightly different: She underwent a series of first trimester tests despite the fact that at her young age, she was not in a higher-risk age bracket.

"I guess the reason I had the test done was because I was interested in finding out early on if I was at an increased risk for Down syndrome and trisomy 18," Mushlin says. "I knew the accuracy they claimed for discovering signs of Down syndrome was 90 percent, so I did it for screening purposes to see if I would be considered higher risk and to then consider the option of amniocentesis."

First trimester testing gives parents-to-be peace of mind earlier in the pregnancy or enables them to take proactive steps in preparing themselves for what challenges may lie ahead.

Mushlin didn't have to go very far for her testing – she's a genetic counselor at Genzyme Genetics in Philadelphia, Pa. There she works with Vivian Weinblatt, manager of the Northeast Clinical Operations at Genzyme Genetics, who oversees the genetic counseling staff and is involved in program development in New York, New England, Pennsylvania, New Jersey and Maryland/D.C. As past president of the National Society of Genetic Counselors, she also counsels pregnant patients and families regarding genetic risks and testing.

"Screening tests are used to evaluate a population who are thought to be at low risk, in order to identify individuals within the population who are actually at higher risk," says Weinblatt. "Once these higher-risk individuals are identified, they are offered other tests, called diagnostic tests, to make a definitive diagnosis."

One of the newer tests is referred to as

Want to see more?

• Managing Pregnancy Complications Series
• Guide to Pregnancy Tests and Procedures
• Prenatal Screening: The Pros and Cons of Enhanced AFP
• Talk about it!