In October 2011, Amber Broman remembers sitting in the doctor’s office bawling, screaming and crying out.
Minutes earlier, she had learned that the baby girl she was carrying would likely never have the chance to talk or walk, ride a bike or drive a car or be walked down the aisle on her wedding day.
“We had an amniocentesis and had noticed some abnormalities in the ultrasound,” Broman noted. “So we saw a specialist in Indianapolis and did an amnio there too. … On the ultrasound, they initially saw multiple defects within her heart, and they didn’t think her esophagus was attached to her stomach. … And that’s when they told me what it was and that it was in every cell of her body.”
The condition was Trisomy 18.
It was five weeks before the Kokomo woman was to deliver, and all she remembers hearing that day were the words “incompatible with life.”
According to the National Institutes of Health, Trisomy 18 is a chromosomal genetic disorder that includes a combination of birth defects that impact nearly every organ in the body. People born with the disorder, also known as Edwards syndrome, have three copies of the 18th chromosome, and most babies with Trisomy 18 die within the first year of life.
“She only lived two days,” Broman said, referring to her daughter she named Khloe Nicole. “We chose comfort care for her because we did not necessarily want to go through having her on machines and then making those decisions. We chose to just let life take its course, and we had almost 48 full hours with her.”
Broman is not alone.
The Center for Disease Control describes a birth defect as a structural change present at birth that can affect any or all parts of the body. They vary from mild to severe and depending on the type of defect, some infants can go on to live healthy lives.
In the United States, a baby is born with a birth defect every four-and-a-half minutes, according to the Indiana Birth Defects and Problems Registry, which equals roughly 120,000 babies per year.
In the Hoosier state, birth defects are the second leading cause of death for infants, with over 2,500 Indiana babies born each year with some type of congenital abnormality, such as a cardiovascular, chromosomal, central nervous system or musculoskeletal defect.
In 2018 alone, the Indiana State Department of Health concluded that birth defects contributed to 6.8 deaths per 1,000 births, a slight dip from 2017.
The infant mortality rate in Indiana is the lowest it’s been in six years, the ISDH noted, but the rate is still one of the highest in the nation.
The state’s response
In recent months, Gov. Eric Holcomb has taken the infant mortality plight to the public stage, making it one of the top priorities in his administration to have the lowest infant mortality rate in the Midwest by 2024.
The state has already begun the process of achieving that goal, rolling out programs and committees with the sole focus of lowering the infant mortality rate.
One of those programs, OB Navigator, was signed into law in 2019 and works in collaboration with the ISDH, the Indiana Family and Social Services Administration and the Indiana Department of Child Services.
OB Navigator was established by Indiana House Enrolled Act 1007 and is set in place to “build a network of services and support throughout Indiana to wrap our arms around moms and babies to create healthier outcomes for both,” its website states.
The program works as a connection tool between women who are early in their pregnancies and individuals who can provide personal guidance for those women through the rest of those pregnancies and at least the first six months of life.
Some of that guidance includes a “Mom’s Helpline,” which is a contact center that connects pregnant women throughout Indiana to available resources and a network of prenatal and child healthcare services, the program’s website cites.
In a recent press release on the subject, State Health Commissioner Kristina Box noted that OB Navigator will be available to women on Medicaid in the state’s highest-risk counties, and organizers of the program anticipate enacting it in 20 counties by the end of 2020.
Visit the ISDH’s website at in.gov/isdh/ for more information about the program.
While doctors do say that many birth defects can’t necessarily be fully prevented, there are ways to lower the risk factor.
What you can do
“We usually don’t start doing testing until about the second trimester of pregnancy,” said Dr. Andrew Barlow, OBGYN at Trinity Health Network. “We start offering blood tests and ultrasounds at that time to determine birth defects. However, there are women that can undergo screening beforehand if they’re at higher risks.”
Women that fall into those categories are those over 35 or women with certain medical conditions, Barlow noted.
Because fetal growth, like organ development, takes place in the first few weeks of pregnancy, Barlow said it’s imperative to see your doctor on a regular basis if you’re planning on becoming pregnant.
“Review your medical history and make sure you’re healthy enough to have children too,” Barlow added. “And make sure that you’re not taking any medication that can contribute to birth defects. Also obviously don’t abuse alcohol or drugs during pregnancy either.”
It’s also important to take a prenatal vitamin with the right amount of folic acid [400 mg], Barlow added, which having a deficiency of can lead to brain and spine defects like spina bifida or anencephaly. Spina bifida is a birth defect in which a developing baby’s spinal cord fails to develop properly. Anencephaly is the absence of a major portion of the brain, skull, and scalp that occurs during the development of the embryo.
Dr. Sheila Hockman, OBGYN at Ascension Medical Group and part of a state-wide Maternal Mortality Review Committee enacted to address the issue, agreed with Barlow, while also stressing that, such as in cases like young Khloe’s, there is really nothing that mothers can do to prevent such a defect.
However, areas like genetic testing can still be a giant help, even if a defect is already in place, she noted.
“You can do genetic testing early in the pregnancy,” Hockman said. “And a lot of people, when we ask them if they want to do genetic testing, they’ll say no because they’re going to deliver the baby regardless.
“But for us, it’s not a matter of keeping the pregnancy or terminating it,” she continued. “It’s the more well-prepared we are during the pregnancy, it enables us to care possibly in a different fashion. Do they need to see a maternal fetal medical specialist or can this pregnancy be monitored like a regular uncomplicated pregnancy? It’s that sort of thing.”
That can sometimes mean the difference between life and death, Hockman added.
“The big point I would like to get across is that there are so many of these birth defects that are preventable, especially when you look at things like maternal obesity,” she said. “It’s a national issue, but we can do something about it, and it often just takes a healthier lifestyle.”