In the last 10 months since the American College of Obstetrics and Gynecology (ACOG) recommended that physicians begin routinely offering first trimester screening (also known as early risk assessment) to all pregnant women--not just those aged 35+ years-- moral and philosophical arguments have taken local and national media by storm.
The exam, which combines a blood test and measurements of a fetus taken by ultrasound, provides statistical results about a couple’s likelihood of delivering a child with Down syndrome. Down syndrome, also known as Trisomy 21, is a genetic condition in which an extra chromosome alters physical and mental development. While a non-invasive test, the staggering reality is that more than 80 percent of pregnant women who receive news of an increased risk for bearing a child with Down syndrome, go on to terminate their pregnancy.
According to Dr. Brian Skotko, a resident physician at Children’s Hospital Boston and Boston Medical Center, “more information necessitates more decision-making.”
Skotko has long been associated with the Down syndrome cause as he has a sister with Down syndrome, is a legislative advocate, and prolific researcher. “As society moves forward into an age where tests are available to discern everything from the sex of a fetus to potential chromosomal abnormalities, reproductive couples need to discuss two main issues prior to undergoing prenatal testing including: when do you think life begins; and what form of human life does one believe is valuable.”
Two years ago, Skotko released research revealing that many physicians were ill-equipped at delivering news about a Down syndrome diagnosis. The research recommended that physicians familiarize themselves with a current and accurate portrayal of Down syndrome so that it can be shared with patients in advance of screening tests — giving mothers-to-be and their partners access to relevant information and local resources prior to early risk assessment.
Interestingly, the Prenatally and Postnatally Diagnosed Conditions Awareness Act (S.1810), originally introduced in 2005 due to Skotko’s research, was re-introduced in mid-July of this year by Senators Edward Kennedy (D-Mass) and presidential hopeful Sam Brownback (R-Kansas). If passed, the bill will allocate $25 million in grants to organizations to help provide pregnant women up-to-date information about Down syndrome when receiving a prenatal or postnatal diagnosis of Down syndrome.
“I remember looking to our doctor for answers when we were informed that we had a 1 in 250 chance of giving birth to a child with Down syndrome,” said Kathy Norton. When discussing the next phase of invasive testing (amniocentesis) with their physician, it was explained that the Nortons also had a 1 in 250 chance of a miscarriage should they proceed. Ultimately, the couple chose not to continue testing and gave birth to daughter Meg — now two years old — who has Down syndrome.
“I’m glad I didn’t know of Meg’s diagnosis prior to her birth as I wouldn’t have wanted to have to make life altering decisions at that point,” said Tim Norton. “I did not have enough information about Down syndrome.”
Dr. Usha Sarma of Boston OB/GYN offers early risk assessment to pregnant patients. While the decision to go forward with the test rests directly in the hands of her patients, Sarma indicates that most opt to undergo the screening as it is non-invasive. At the same time the test is offered, she sends patients home with a folder filled with information about pregnancy and nutrition, as well as a two-pager about birth defects — including Down syndrome. Sarma is an exemplary physician in light of Skotko’s research in that she alerts patients of risks and resources as tests are offered and well beforetest results are delivered — ultimately giving patients time to digest information, complete research and ask questions. In her 30 years of practice, Dr. Sarma said, “None of my patients have terminated their pregnancy based upon early risk assessment results alone, but many do take the next step of completing either an amniocentesis or Chorionic Villus Sampling (CVS).”
"One of the difficult issues surrounding screening tests for Down syndrome and other genetic disorders is that they do not give simple 'positive' or 'negative' results," according to Dr. James D. Goldberg, medical director at San Francisco Perinatal Associates in California. "What screening test results provide is a risk number. The main disadvantage of screening is the potential for false-positives or false-negatives, meaning some fetuses with abnormalities will not be detected, while other, healthy fetuses may wrongly be flagged for Down syndrome.”
One such situation is that of Lisa and Robert Gibbs, who in 2001, gave birth to daughter Samantha. After prenatal testing including a level III ultrasound and fetal echo cardiogram failed to detect any abnormalities in the development of their baby, Samantha was born, and at two days old, diagnosed with Down syndrome.
“It is important to present a clear and current picture about Down syndrome and differently-abled children and educate patients before screening results are delivered—regardless of what the results may be,” said Kathy Norton. The Nortons agree that attempts to give information after the results of an early risk assessment is delivered is too late. From their perspective and personal experience, couples in the throes of emotional upheaval are not as willing to seek out information. “Unless your life is directly touched by Down syndrome or similar health condition, it is difficult to understand what to expect either cognitively or emotionally. It’s an educational process.”Infobox
October is Down Syndrome Awareness Month and on Oct. 7, hundreds of families from across the state of Massachusetts will celebrate their children with Down syndrome at the Massachusetts Down Syndrome Congress’ (MDSC) Annual Buddy Walk and family picnic. The half-day event filled with fun, food and activity is organized to highlight how few differences truly exist between those with and those without Down syndrome. Both the MDSC and its media sponsor Parents and Kids invite you to Lake Quannapowitt in Wakefield to join the celebration. For more information, visit www.mdsc.org.Resources:
By Wendy Bulawa
GateHouse News Service
Mon Aug 27, 2007, 09:10 AM EDT