Ten years ago, on Jan. 4, 2003, Blythe Stanfel gave birth to her first son, Joshua. He was perfect and beautiful and appeared totally healthy.
As with other newborns, he underwent the standard tests and screenings in the hospital. Seven days later, Stanfel received a call.
“They said he probably had PKU, and we needed to go to Iowa City,” Stanfel said. “It was very scary.”
Phenylketonuria, also known as PKU, is a condition that prevents the body from breaking down an amino acid found in proteins. If left untreated, it can cause brain damage and even death.
But if treated through diet modifications, diagnosed individuals can lead healthy lives.
Stanfel, 39, of Clive, said Joshua – along with her second son, Jonathan, 8, who also has PKU – live relatively normal, active lives and are a testament to the value of the newborn screening program.
“It saved my children,” Stanfel said. “It’s a miracle screen that is so beneficial to society.”
The newborn screenings, along with maternal screens during pregnancy, are available today to all Iowa families.
It was 50 years ago that U.S. babies first were tested for genetic or metabolic conditions – beginning with PKU – as part of a state-initiated newborn screening program. Today, most states screen for at least 29 conditions, saving or improving thousands of lives each year.
Iowa, which can test for 45 conditions, began participating in the newborn screening program in 1965 – placing it among the test’s early adopters.
But the newer maternal screening program, which can identify pregnant women at a heightened risk of having a baby with Down syndrome, Trisomy 18 and an open neural tube defect has not experienced the same surge in popularity.
That program debuted in the late 1980s, and participation in Iowa peaked in 2000, when the State Hygienic Laboratory processed 15,253 maternal screens – about 40 percent of the year’s 38,141 births.
Numbers have been declining since, and the state lab this past year processed just 8,804 maternal screens – about 23 percent of the year’s 38,181 births.
Searching for reasons
Sandra Daack-Hirsch, a clinical nurse specialist and assistant professor in the University of Iowa College of Nursing, has made it her mission to find out why fewer women are participating in the screen.
In her role as the State Hygienic Lab’s 2012 environmental and public health ambassador, Daack-Hirsch launched a study aimed at answering that question by reviewing health insurance claims information, polling practitioners and interviewing patients.
Daack-Hirsch said she wants to look at insurance claims to see whether the decline is due to more mothers going to the private sector for maternal screening. She also wants to know how practitioners and midwives are presenting information about the screen to patients and what pregnant women consider when deciding whether to participate.
The study is underway, and Daack-Hirsch said she hopes to have a report and recommendations out by this time next year.
“Mothers might be well informed and just making different decisions,” Daack-Hirsch said. “But instead of speculating about why the numbers are going down, we want to look at the real reason and make adjustments as needed.”
The maternal screening involves blood draws and ultrasounds at specific stages during pregnancy. A positive result doesn’t mean a baby has Down syndrome, Trisomy 18 or open neural tube defects, but it indicates an increased risk and more testing is needed.
Unlike the newborn screening program, Daack-Hirsch said, maternal screening can be controversial. Some women don’t want to know if something could be wrong with their baby, or they’re concerned a positive result might add stress that, in the end, is unwarranted.
But, she said, it also could provide the mother and practitioner with valuable information that could enable the healthiest possible outcome for the baby. Indications that a baby has a defect or syndrome might prompt families in more rural parts of the state to deliver at a larger, high-level hospital.
In some cases, parents can opt for in-utero surgery to give their babies a head start in overcoming a defect.
Stanley Grant, a consultant to the state’s maternal screening program who was involved in its inception, said maternal screening has evolved and improved over the years.
“We just want women to have as much information as possible,” Grant said.
“Most successful public health program”
If Alicia Fuller becomes pregnant again, the 35-year-old mother said she’ll do maternal screening. Fuller, who said “no” the first time around, confirmed she now appreciates the value of having the most information available.
Fuller’s now-12-year-old son, Zach Zwirlein, was born on Nov. 9, 2000, and appeared healthy. But, as with Stanfel, Fuller received a call a few days later informing her of concerns with her son’s newborn screen and asking her to come to Iowa City.
He was diagnosed with MCAD deficiency, a rare metabolic disorder that prevents his body from using stored body fat and breaking it down when he’s sick.
That means her son needs to eat specific foods, and he needs to eat often. Undiagnosed babies can simply eat too little, sleep too long and never wake up, Fuller said.
“If we had not had that newborn screening, I don’t know,” Fuller said. “But they made sure we were educated.”
And today Zach is a strong, active soon-to-be teenager who has to watch what and when he eats.
“Because we knew about it, he has had a very normal childhood,” she said.
The newborn screening is conducted, in part, by pricking the heel of an infant – usually within 24 to 48 hours after birth – and sending a strip of the child’s dried blood to a lab for analysis.
Nearly all the 4 million babies born in the United States receive some newborn screening, according to the Association of Public Health Laboratories. More than 12,000 newborn lives are saved or improved every year because of the screen, according to the association.
Although it’s uncommon, families can and do opt out of the newborn screen in Iowa, said Stanton Berberich, head of the State Hygienic Laboratory’s portion of the newborn and maternal screening programs. About 30 Iowa families a year sign waivers to opt out, he said.
As with the maternal screening program, Berberich said, the state is pushing for ways to improve the newborn screen and increase its reach. In October 2012, for example, Iowa approved adding Severe Combined Immunodeficiency to the screening panel, and it began screening all newborns for that disorder on June 3.
Those who test positive can actually be cured, Berberich said.
“This is the most successful public health program in existence,” he said.