At 41, Vicki Causerano went to Maternal Fetal Medicine (MFM) because of her age. Soon she was glad to be in expert hands for another reason. A routine prenatal screening test indicated she had a 50 percent chance of having a child with Down Syndrome.
While at Grand View, a high-speed telemedicine network provided a consult with a genetic specialist at Lehigh Valley Hospital. The specialist suggested amniocentesis - a medical procedure used in prenatal diagnosis of chromosomal abnormalities. The test involves extracting a small amount of amniotic fluid, which contains fetal tissues, from the amniotic sac surrounding the developing fetus. The fetal DNA is examined for genetic abnormalities. The drawback of amniocentesis is it carries a small risk, about 1 in 100, of miscarriage.
"We debated whether to have the test," Vicki said. "We decided to have it only if confirming the baby had Down Syndrome would benefit him. Although the risk of miscarriage was very small, if something went wrong, we'd never forgive ourselves."
In addition to mental retardation and distinct facial characteristics, about half of children born with Down Syndrome have heart problems that can be life-threatening and may require surgery in early infancy. To measure the baby's growth and evaluate the heart, MFM specialist Kara Coassolo, MD, suggested a series of high-level ultrasounds and fetal echograms as an alternative to amniocentesis. Fetal echocardiography uses sound waves (ultrasound) to study heart structure.
"There was never pressure to have testing we didn't want," Vicki said. "They let us call the shots and took the time to answer our questions thoroughly without making us feel like we were pestering them. One week I talked to registered nurse Carey Myers, who coordinates the MFM program, three times a day."
Coincidentally, Vicki has experience with Down Syndrome. As a young woman, she worked in group homes for mentally handicapped adults. "When there's a possibility of Down Syndrome, so many people get caught up thinking something is wrong with their baby. They fail to realize these children have so much to offer," Vicki said. "Everyone should have an opportunity to make their contribution in the world. If our child has Down Syndrome, we will stand behind him in however far he can go."
source: Annual Report 2010