Birth Defects: Strategies for Prevention and Ensuring Quality of Life What follows is a transcript of testimony given by Dr. Nancy Green, medical director of the March of Dimes Birth Defects Foundation, before the Subcommittee on Children and Families, U.S. Senate Health, Education, Labor and Pensions Committee on July 26, 2002.
Introduction Good morning, Mr. Chairman. I am Dr. Nancy Green, medical director of the March of Dimes Birth Defects Foundation. I am pleased to have the opportunity to testify this morning on behalf of the over 3 million volunteers and 1600 staff of the March of Dimes, and share with you the Foundation’s views on “Birth Defects: Strategies for Prevention and Ensuring Quality of Life.”
As you know, the March of Dimes is a national voluntary health agency founded in 1938 by President Franklin D. Roosevelt to find a scientific prevention of the threat of polio to the public. Today, the Foundation works to improve the health of mothers, infants and children by preventing birth defects and infant mortality through research, community services, education and advocacy. The March of Dimes is a unique partnership of scientists, clinicians, parents, members of the business community, and other volunteers in every state, the District of Columbia and Puerto Rico.
The statistics on birth defects are very disturbing and illustrate a serious health problem facing our nation. Of the four million babies born each year in the United States, approximately 150,000, or 3-4% of all live births, have at least one serious birth defect. Severe birth defects often require lifelong medical treatment. Because many conditions cannot be fully corrected, birth defects are a major cause of childhood and adult disability. Birth defects are also the leading cause of infant mortality. The March of Dimes believes a two-pronged approach to prevention and treatment of birth defects is required: research to identify causes and improve prevention tools, and access to health care so women and infants can benefit from existing medical knowledge. I am grateful for the invitation to come before this subcommittee to share the March of Dimes agenda for prevention and treatment. I am here today to support your efforts and those of several Federal agencies to prevent birth defects and to improve the quality of life for those born with birth defects. In addition, I want to use my time with you to urge Congress to reauthorize the Birth Defects Prevention Act of 1998 as a way of ensuring that this important work continues.
Background on Birth Defects The March of Dimes defines birth defects as an abnormality of structure, function or body metabolism (inborn error of body chemistry) presenting at birth or early childhood that results in physical or mental disability, or is fatal. There are more than 4,000 known birth defects. Both genetic and environmental factors can cause birth defects. In some cases, a child inherits a genetic disease when one parent (who has the disease) passes along a single faulty gene; examples of birth defects caused by dominant inheritance include Marfan syndrome and achondroplasia (a form of dwarfism). More frequently, a child inherits a genetic disease when both parents (who are healthy) pass along the same faulty gene; this is called recessive inheritance. Examples include Tay-Sachs disease and cystic fibrosis. Abnormalities in the number or structure of chromosomes can cause numerous birth defects. Down syndrome, in which a baby is born with an extra chromosome 21, is one of the most common chromosomal abnormalities.
Birth defects also result from environmental factors such as drug or alcohol abuse, infections (such as rubella) or exposure to certain medications (such as the acne drug Accutane) or other chemicals. Often, birth defects appear to be caused by a combination of one or more genes and environmental factors, such as cleft lip/palate, clubfoot and some heart defects.
Birth defects generally are grouped into three major categories: structural/metabolic, congenital infections, and other conditions. When a baby has a structural birth defect, some part of the body is missing or is malformed. Heart defects are the most common type of structural birth defects, affecting one baby in 125. Spina bifida affects one in 2,000 babies. Metabolic disorders are not visible, but can be harmful or even fatal, and affect one in 3,500 babies. PKU (phenylketonuria) is an example of a metabolic disorder, in which affected babies cannot process a part of protein, which builds up in blood and results in brain damage. Fortunately, this disorder is routinely detected with newborn screening tests, so affected babies can be placed on a special diet that prevents mental retardation.
Rubella (German measles) is probably the best known congenital infection that can cause birth defects. If a pregnant woman is infected in the first trimester, her baby has a one-in-four chance of being born with one or more symptoms of congenital rubella syndrome (deafness, mental retardation, heart defects, blindness). Fortunately, because of aggressive immunization programs, this syndrome has been eradicated in the United States and many other countries.
Other causes of birth defects include substance abuse during pregnancy. For example, fetal alcohol syndrome (FAS), which affects one baby in 1,000 (about 4,000 babies per year in the United States) and results in mental and physical birth defects, is common in babies whose mothers are heavy drinkers of alcohol during pregnancy. FAS is the most common preventable birth defect in the United States. Babies of mothers who use cocaine early in pregnancy are also at increased risk of birth defects. Studies suggest that these babies are five times more likely to be born with urinary tract defects than babies of women who do not use cocaine while pregnant.
March of Dimes Research on Birth Defects The entire research budget of the March of Dimes supports basic and clinical research, the ultimate aim of which is assurance that every baby is born healthy. Research supported by the Foundation addresses basic biological processes that underlie development and also examines clinical aspects of pregnancy. Research currently being conducted includes studies of developmental biology and genetics aimed at explaining fundamental steps that lead to healthy birth outcomes. When these steps go awry, normal birth is abrogated with the consequence of a miscarriage, still birth, or live birth of an infant with a birth defect. If we improve our understanding of these normal steps and their occasional aberration, we will be in a better position to devise means of prevention and intervention. Thus, all research that is supported by the March of Dimes deals with the prevention of birth defects.
In 2001, the Foundation’s research budget totaled $39.7 million. In the history of our grant program awards have been made to more than 1,200 institutions, including Yale, University of Connecticut, Washington University, Harvard, Columbia University, Cornell, University of California – Los Angeles, Stanford, University of California - San Francisco, and Johns Hopkins University. The average award in 2001 was $72,000 per year; the median $73,000; the range $48,000-97,000. Typically grants are awarded for three years. As a private foundation, the March of Dimes is able to act quickly to fund creative new approaches, accelerating the pace of scientific discovery.
Previous March of Dimes research achievements include identification of fetal alcohol syndrome (FAS), thus establishing the association between the birth defects and alcohol use. More recently, findings from research supported by the Foundation have been used to develop professional and public educational messages that aim to change unhealthy behaviors of pregnant women. The March of Dimes has also supported research to refine fetal surgery techniques, a successful intervention for congenital diaphragmatic hernia and spina bifida. In addition, the March of Dimes supported research on Fragile X, the most common form of inherited mental retardation, which has generated three important outcomes.
First, it has increased understanding in the medical community that some forms of mental retardation are genetic in origin, leading to referral of affected families for genetic counseling. Second, it has launched a major research effort to investigate other heritable and potentially preventable forms of mental retardation. And, third, it has resulted in early screening for disorders such as Fragile X and in clinical studies to ascertain the impact of early interventions for affected children to determine whether their intellectual development can be augmented.
Federally Sponsored Birth Defects Research and Services Although we at the March of Dimes are justifiably proud of the Foundation’s research program, the volunteers and staff of the March of Dimes strongly support federally-funded research related to birth defects and programs that provide services to those living with birth defects. For example, the March of Dimes was a vigorous advocate for two recent legislative initiatives that focus on birth defects prevention: the Birth Defects Prevention Act of 1998 (P.L. 105-168) and the Children’s Health Act of 2000 (P.L. 106-310) through which the CDC National Center on Birth Defects and Developmental Disabilities was created. In addition to Chairman Dodd, Senators Kennedy and Bond who are members of this subcommittee were instrumental in obtaining Congressional approval of these important measures.
Birth Defects Prevention Act Reauthorization In 1998, Congress passed the Birth Defects Prevention Act with broad bipartisan support. The act, first introduced by Senator Bond, authorized the Centers for Disease Control and Prevention to (1) collect, analyze, and make available data on birth defects; (2) operate regional centers for applied epidemiological research on the prevention of birth defects; and (3) inform and educate the public about the prevention of birth defects. CDC’s current birth defects prevention activities described below are made possible by the Birth Defects Prevention Act and conducted under the auspices of the National Center on Birth Defects and Developmental Disabilities.
The Birth Defects Prevention Act authorized these prevention programs, as well as the appropriations that support the National Center on Birth Defects and Developmental Disabilities, through fiscal year 2002. We understand that Senator Bond will be introducing the “Birth Defects Prevention Act of 2002” shortly to revise and extend the Birth Defects Prevention Act. Mr. Chairman, the March of Dimes urges you and the members of the full HELP Committee to complete action on the Senator’s bill before the end of this Congress and thereby maintain the federal commitment to preventing birth defects and ensuring the quality of life for those living with birth defects.
National Center on Birth Defects and Developmental Disabilities Two years after passage of the Birth Defects Prevention Act, Congress took another major step toward preventing birth defects and improving the lives of those born with a birth defect when it created the National Center on Birth Defects and Developmental Disabilities (NCBDDD) as part of the Children’s Health Act of 2000. The NCBDD was officially launched in April 2001. The mission of the Center is to improve the health of children and adults by preventing the occurrence of birth defects and developmental disabilities; promoting optimal child development; and promoting health and wellness among children and adults who have a disability.
The Center focuses on identifying the yet unknown causes of birth defects and developmental disabilities through research programs; preventing birth defects and developmental disabilities through public as well as professional education; and promoting wellness for all Americans, including those with a disability. The March of Dimes is privileged to work closely with the Center in carrying out activities to meet these objectives.
To help find the causes of birth defects, NCBDDD currently funds regional “Centers for Birth Defects Research and Prevention” in Arkansas, California, Iowa, Massachusetts, New Jersey, New York, and Texas. Each center is funded at a level of approximately $900,000 per year. Four months ago, the March of Dimes testified before the House Appropriations Committee and submitted a written statement to the Senate Appropriations Committee requesting an increase of $6 million in the budgets for these centers so that they can expand and intensify their research pertaining to genetic and environmental causes of birth defects.
These seven regional centers and the eighth site at the CDC are participating in the National Birth Defects Prevention Study, the largest study on the causes of birth defects ever conducted. Now, with information collected on more than 11,000 families, the data are being used in studies designed to help identify the causes of birth defects. For example, work now underway focuses on the effectiveness of various methods for the primary prevention of birth defects, the mechanisms of inducing birth defects by various drugs, the environmental causes of birth defects, the genetic factors that make individuals susceptible to birth defects, and the behavioral causes of birth defects. Moreover other studies examine the costs associated with birth defects. This exciting leading edge research holds great promise and merits an increase in funding.
NCBDDD also supports the development, implementation, and expansion of state birth defects tracking systems, programs to prevent birth defects, and activities to improve access to health services for children with birth defects. March of Dimes chapters around the country work closely with these state-based birth defects surveillance programs.
Finally, the ultimate goal of tracking and research is the development and implementation of effective programs to prevent birth defects and developmental disabilities. One example of a success in this area is the national folic acid education campaign, lead by the March of Dimes, the CDC and its partner organizations, such as the Spina Bifida Association. This is a multi-year national education campaign designed to increase the number of women taking folic acid daily. Each year in the United States, approximately 2,500 babies are born with neural tube defects (NTDs). NTDs are severe birth defects of the brain and spinal cord, including anencephaly and spina bifida. CDC estimates that the annual medical care and surgical costs for persons with spina bifida in the United States exceed $200 million, and that up to 70% of NTDs could be prevented if all women of childbearing age consumed 400 micrograms of folic acid daily, beginning before pregnancy. We know that this campaign is getting results. In fact, a study published in the Journal of the American Medical Association in 2001 showed that NTDs in newborns decreased 19 percent between 1995 and 1999 in the wake of this campaign. However, we at the Foundation believe that many more fatal or disabling birth defects could be prevented if more women of childbearing age were to take a multivitamin with folic acid daily.
The Foundation also supports the vital work of the National Center for Health Statistics which offers information essential for these research and programmatic initiatives. Investment in the National Vital Statistics System, a major source of information on birth outcomes and birth defects, would allow CDC to modernize this system using web-based technology that would provide for rapid compilation of data as well as tools to improve the accuracy and completeness of information obtained from physicians and hospitals. These improvements are needed to better detect trends in birth outcomes and to support birth defects registries. Additional resources would also support expansion of the National Survey of Family Growth to provide essential information on factors that affect birth outcomes.
In addition to our support of the National Center on Birth Defects and Developmental Disabilities, the March of Dimes also works collaboratively with agencies that fall within the jurisdiction of this committee. In particular, the Foundation has been an outspoken advocate of doubling the research budget of the National Institutes of Health. With an increase in funding, NIH could expand its research into the causes of birth defects, and also the causes of prematurity. Increased federal funding would also help accelerate the timetable for implementing a much-needed analysis of environmental influences on child health and development that is contemplated by the National Children’s Study authorized by this Committee in the Children’s Health Act of 2000.
In addition to our work on behalf of a more robust federal research agenda, the March of Dimes also works closely with Health Resources and Services Administration and the Centers on Medicare and Medicaid Services on initiatives to treat children with birth defects and other special health care needs. Improved access to newborn screening is one of the Foundation’s highest advocacy priorities here in Washington and in every state capital. One of the great advances in preventive medicine has been the introduction of newborn screening to identify certain genetic, metabolic, hormonal and/or functional conditions in newborns. As the Chairman knows, such disorders, if left untreated, can cause death, disability, mental retardation and other serious lifelong problems. This year the March of Dimes asked the Appropriations Committee to allocate $25 million for implementation of the heritable disorders (newborn screening) program authorized in Title XXVI of the Children’s Health Act of 2000. If adequately funded, this program would make it possible for states to develop, evaluate, and acquire innovative testing technologies and improve these screening, counseling, testing and special services for at risk newborns and children. On June 14, 2002, a March of Dimes volunteer testified before this subcommittee about the importance of expanding the Federal role to assure that newborn screening programs in every state have access to the technical guidance and financial resources they need to make it possible for every child born in the United States to be screened using state of the art diagnostic and treatment tools.
Conclusion On behalf of the March of Dimes, I want to thank you, Mr. Chairman, for holding this hearing today. March of Dimes volunteers and staff around the country stand ready to work with you and the other members of this committee to support public policies and provide the resources necessary to prevent birth defects and ensure that those who are born with birth defects enjoy the best possible quality of life.
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