In 1959, after the March of Dimes established its mission of birth defects prevention, it initiated discussions about newborn screening as a means to detect and prevent the catastrophic consequences of metabolic conditions such as PKU (phenylketonuria) on a large scale. This led to a grant to Dr. Robert Guthrie to support the development of a simple and effective mass screening test for PKU. Subsequently, the Foundation funded research into other genetic and metabolic diseases that can be tested at birth as it expanded the concept of newborn genetic screening as a major component of maternal/child health care delivery. The March of Dimes has worked tirelessly to promote expanded newborn screening programs across the United States at the state level, and to obtain federal guidelines for newborn screening. Newborn screening has improved and save the lives of countless thousands of affected children.

 

March of Dimes Research

 

Linus Pauling, PhD (1901-1994) received one of the earliest basic research grants awarded by the March of Dimes. Dr. Pauling proposed the concept of molecular disease, using sickle cell anemia as a model. His finding that sickle hemoglobin differs in a measurable way from normal hemoglobin introduced the idea that heritable changes in the structure of a molecule could lead to improper function and result in disease. Application of Dr. Pauling’s concept to the study of sickle cell anemia led to the discovery that this disease is caused by abnormalities in the structure of hemoglobin, the red blood cell molecule that transports oxygen throughout the body. His work laid the groundwork for the techniques used in newborn screening and diagnosis of sickle cell anemia. Dr. Pauling received the Nobel Prize in Chemistry in 1954 “for his research into the nature of the chemical bond and its application to the elucidation of the structure of complex substances.”

 

Robert Guthrie, MD (1916-1995) was a March of Dimes grantee who developed a simple blood test to detect phenylketonuria (PKU), a cause of brain damage and intellectual disability. Dr. Guthrie refined an earlier PKU test, making it possible to analyze a dried spot of blood on filter paper instead of a standard liquid blood sample, an easier and inexpensive method that could be used on a mass scale. His breakthrough ushered in an era of state-mandated newborn screening programs. In 1963, Massachusetts became the first state to pass a law making the Guthrie PKU test mandatory, and New York followed suit with a similar law in 1965. Today, all 50 states require PKU testing.

 

Congenital Hypothyroidism (CHT) – a simple and inexpensive screening test for CHT was developed under March of Dimes grants in the 1970s. CHT can lead to stunted growth and intellectual disabilities if not recognized and treated with replacement thyroid hormone shortly after birth. The March of Dimes supported the research of Delbert Fisher, MD at UCLA and P. Reed Larsen, MD at Harvard to develop a screening test for low thyroid hormone levels.

 

Sickle Cell Mini-Center – The March of Dimes supported the establishment of one of the first pediatric clinics in the U.S. to care for infants and children with sickle cell anemia at the Mt. Sinai Medical Center in New York City in the late 1970s. This center provided medical services, social and psychological support, genetic counseling and education required by children with sickle cell disease and their families and communities. March of Dimes researchers investigated the effectiveness of innovative drug treatments and a multi-disciplinary team approach to caring for infants and children with sickle cell disease.

 

Congenital Adrenal Hyperplasia (CAH) – In 1977, Drs. Songja Pang and Maria New at New York Hospital developed a newborn screening test for CAH, an inherited defects in the synthesis of hormones in the adrenal cortex. Certain severe forms of this disorder can be life-threatening in infancy if left undetected and untreated. CAH is one of the most common genetic disorders and is particularly prevalent in certain ethnic groups, including Ashkenazi Jews, Hispanics, and people of Italian or Mediterranean origin.

 

Biotinidase Deficiency – Barry Wolf, MD, a March of Dimes grantee of the Medical College of Virginia, developed an inexpensive, reliable test in 1984 to screen newborns for biotinidase deficiency, a metabolic defect that can lead to frequent infections, hearing loss, seizures, and intellectual disabilities. This condition is easily treatable with biotin, a B vitamin.

 

March of Dimes Advocacy

 

Birth Defects: Original Article Series – In 1974, the March of Dimes published Ethical, Social and Legal Dimensions of Screening for Human Genetic Diseases, a collection of scientific papers to educate and stimulate discussion on the medical, social, and ethical issues surrounding newborn screening.

 

Action at State Level – In 1992, the March of Dimes called for every state to establish built-in safeguards for their newborn screening programs so that babies born with potentially catastrophic but treatable metabolic disorders would get help in a timely fashion. At the same time, the Foundation determined that more needed to be done to teach health professionals and parents about the meaning and importance of newborn screening, and state chapters began to work on newborn screening expansion efforts.

 

March of Dimes Proposes National Standard – In 2000, the March of Dimes proposed a national standard for NBS and applauded an American Academy of Pediatrics review for improvements to the nation’s newborn screening programs, insisting that the primary consideration should be the health of the infant. Dr. Jennifer Howse and Dr. Michael Katz stated, “We believe that a test (even for a rare disease) – as long as its early discovery makes a difference to the child – must be conducted for every newborn” (Pediatrics, 106(3):595; Sept 3, 2000).

 

Action at Federal Level – In 2003, the March of Dimes supported an appropriation of $25 million to implement Title 26 of the Children’s Health Act of 2000 (P.L.106-310) to expand current federal activities related to heritable disorders and newborn screening.

 

Newborn Screening Saves Lives Act: In 2008, Congress passed the Newborn Screening Saves Lives Act (S. 1858) which established national guidelines on what conditions should be tested in newborn screening programs. The March of Dimes actively advocated in favor of its passage. Nearly 90% of all babies born in the U.S., more than double the percentage in 2005, then lived in states that require screening for at least 21 of 29 life-threatening but treatable disorders defined as essential by the March of Dimes and the American Academy of Pediatrics in 2004. At present, the March of Dimes a total of 31 core conditions for newborn screening based on the U.S. Department of Health and Human Services Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children (SACHDNC).

 

Sources: March of Dimes Archives: Grants Records, Bioethics Advisory Committee Records, Medical Program Records; March of Dimes field advisories; newborn screening timelines.

 

August 27, 2012 / David Rose / March of Dimes Archives