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National statistics for 18 major birth defects released


Down Syndrome and cleft lip and/or palate most prevalent defects studied

Cleft lip is a treatable birth defect, but for the families of the estimated 6,800 U.S. infants born with one, it’s a heartbreaking experience – not only because of the associated health problems, but because friends and family may ignore the condition or because of social stigma associated with facial defects.

Among the 18 major birth defects included in this study, cleft lip and/or palate had the highest prevalence, followed by Down Syndrome, according to research that for the first time provides population-based estimates for the prevalence of specific birth defects nationwide.

Among the selected cardiovascular defects studied, more than 6,500 infants were affected, however, this excludes many common types such as ventral septal defects.

The study results, published today in the Centers for Disease Control and Prevention’s journal Morbidity and Mortality Weekly Report (MMWR), calculated national estimates for 18 specific major birth defects between 1999 and 2001. Previous estimates had indicated that 3 percent of all births are affected by a birth defect. However, this is the first time national population-based estimates for specific defects, other than neural tube defects, have been calculated.

"This study is an important step toward helping us understand the widespread impact that birth defects have on families across the United States," said study co-author Joann Petrini, Ph.D., director of the March of Dimes Perinatal Data Center.

Parents of children with these conditions know how important this research is to their families and to addressing their health care and educational needs.

"No one was excited for us when Ethan was born," said Lori Gunther of Saratoga Springs, N.Y., whose son was born in 2002 with a cleft lip. Well-meaning friends avoided discussion of or dismissed the defect thinking it was "cosmetic" and could be easily fixed. But Ethan had eating problems because the cleft made it difficult for him to suck. He had three surgeries by the age of 1. After one surgery, he stopped breathing for a short time after his parents brought him home due to a blood clot.

"I don’t think a lot of people realize this is a problem," said Lori Gunther. "It was horrible. The thought of possibly having to go through it again with another child was horrible." But last year, she gave birth to a healthy baby girl she and her husband named Katherine.

Because of his cleft palate and lip, Dakota Hitchcock "sounded like a little puppy" when he was born in 2002, said his grandmother, Lin Hitchcock of Oklahoma. "Your heart just broke and I just started praying," she said. Before he was 18 months old, Dakota had three surgeries. The second one allowed him to suck properly on a bottle. "I can still hear that sound," says Lin Hitchcock. "I wouldn’t wish this on anybody, but I wouldn’t give back the experience. It just makes us appreciate the little things in life."

The 18 major birth defects studied included certain cardiovascular system defects, as well as limb defects, defects of the intestine and bowel, the eye, and chromosomal defects, such as Down syndrome. These were selected for study because they are relatively common, can be identified after birth, and have severe consequences. Ten of the 18 defects affect more than 1,000 infants annually, according to the research titled, "Improved National Prevalence Estimates for 18 Selected Birth Defects – United States, 1991-2001," and published in MMWR, Vol. 54, Nos. 51 and 52.

"This report demonstrates the importance of state birth defects surveillance programs and also the need for more research to identify the causes of many birth defects,’’ said Dr. Jennifer L. Howse, president of the March of Dimes.

Understanding the prevalence of birth defects, which are the leading cause of infant mortality in the United States, is key to planning for national health care needs and for designing and targeting programs and research for prevention and treatment, the March of Dimes says.

Todd P. Dezen | EurekAlert!
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