There is a startling statistic nationwide that has made waves in the genetic community: 90 percent of women who find out they are carrying a fetus with Down syndrome choose to terminate the pregnancy.
7News finds out how the diagnosis is made in utero and what two affected families think about the genetic screenings.
Three-year-old Kadence Hornsby of Gillis and five-year-old Carter Sarro of Lake Charles are just two of the 400,000 people in America with a chromosomal condition causing mental impairment, called Down syndrome.
It is a diagnosis that shocked Ashleigh and James Hornsby. "It was just like you had to do away with that image of a daughter you thought you were gonna have," said James, "and come to the reality that this is your daughter."
For Rick and Melanie Sarro, a quad test (an optional blood test in pregnancy) showed that she had a slight risk for having a baby with Down syndrome. "It came back positive for Down syndrome, which also doesn't mean that your child has Down syndrome," said Melanie, "it just means you have a greater risk for having a child with Down syndrome."
Down syndrome can be pinpointed in an amniocentesis, an invasive genetic screening that detects an extra copy of the 21st chromosome.
Dr. Marshall St. Amant is the director of maternal fetal medicine at Woman's Hospital in Baton Rouge and works with patients in Southwest Louisiana, as well. His team counsels couples when genetic screenings show a defect. "We will tell them the things that their baby can do, will do well, we also have to tell them when their baby will never be able to do certain things that other kids can do," he said.
If the mutation is fatal, the pregnancy is typically terminated. But conditions like Down syndrome, muscular dystrophy and cystic fibrosis have longer life expectancies - creating a new set of moral and ethical questions. "When abnormalities are not lethal, some moms choose to interrupt the pregnancy and end the pregnancy and the one there that is done most commonly would be Down syndrome," said Dr. St. Amant.
Nationwide, nine in ten women carrying a Down syndrome fetus end the pregnancy. But across Louisiana, Dr. St. Amant says that number is well below a quarter of the population, maybe as low as ten percent. "They do not want to interrupt the pregnancy because they have strong beliefs about where the baby came from," he said.
Genetic testing is a double-sided coin for Ashleigh, who is also a nurse. She says the diagnosis can overwhelm a couple without support in place. "I can see people being terrified and not wanting to deal with it," she said, "but then when I see Kadence, I see this motivated, smart, beautiful girl."
These families will not tell you it has been easy as they battle tough questions. "I wonder if I am going to walk my daughter down the aisle," said James, "am I gonna see her go to prom?"
Yet, they will tell you their children are worth the love they have to give. "Carter's gift for us in our family is really the gift of unconditional love," said Rick, "unequivocally unconditional love."
It is love felt by siblings, like Carter's big brother, Zachary. "It's like having a little brother with no Down syndrome," he said.
It is also a love felt by those that brought the children into the world. "He has a lot of inner drive that was God-given," said Melanie, "he has a whole lot more than just an extra chromosome to give."
The amniocentesis results are nearly 100 percent accurate in detecting Down syndrome, but the test does carry a slight risk for miscarriage, which is why many women with positive quad tests do not proceed.
Some of the most common reasons associated with terminating a Down syndrome pregnancy deal with health concerns and handling a child with lifelong special needs.
If you are the parent of a child with Down syndrome, there is a local support group that you can connect to by clicking here.
Ashleigh Hornsby is the co-founder of a support group for families with genetic disorders. It's called "Designer Genes." Learn more about this group by clicking here.
This special report is part of a three part series on genetic testing. Links to the two related pieces are below:
*Genetic testing of a fetus offered for pregnant women
*Could embryonic screenings eliminate diseases?