Birth Defects

Birth defects are defined as abnormalities of structure, function, or body metabolism that are present at birth. These abnormalities lead to mental or physical disabilities or are fatal. There are more than 4,000 different known birth defects, ranging from minor to serious, and many can be treated or cured. They’re the leading cause of death in the first year of life.

According to the March of Dimes, about 150,000 babies are born with birth defects each year in the United States. The American College of Obstetricians and Gynecologists (ACOG) says that 3 out of every 100 babies born in the United States have some kind of major birth defect.

Birth defects can be caused by genetic, environmental, or unknown factors.

Related Disability Fact Sheets:

• Angelman Syndrome

• Congenital Disorder of Glycosylation

• Congenital Heart Defects

• Cri Du Chat Syndrome

• Down Syndrome

• Fetal Alcohol Syndrome

• Fragile X Syndrome

• Intellectual Disability

• Spina Bifida

• Usher Syndrome

Associations/Groups:

Genesis Foundation

The Genesis Foundation for Children funds free or low-cost programs and services to assist families dealing with a rare disease and genetic disorder diagnoses – in practical and productive ways. Programs include the Feingold Center for Children, the Pregnancy Exposure InfoLine, and Therapy and the Performing Arts – Cape Cod.
60 Temple Place, 2nd Floor
Boston, MA 02111
Phone: 617-367-7070
Email: office@thegenfound.org

March of Dimes Birth Defects Foundation 

Through education and intervention, we help moms-to-be learn how to take care of themselves before, during and after their pregnancy.

Massachusetts Chapter
112 Turnpike Road Suite 300
Westborough, MA 01581
Phone: 508-366-9066
Email: jvose@marchofdimes.org

Feingold Service at Children’s Hospital Boston – Waltham

Provides diagnosis and treatment of children born with birth defects, genetic diseases and intellectual disabilities. In 2011, the clinical care aspects of the Center was transferred to Children’s Hospital Boston in Waltham, where patients are now seen as part of the Division of Genetics at Children’s.
9 Hope Avenue
Waltham, MA
Phone: 781-216-2840

New England Newborn Screening Program 

The New England Newborn Screening Program helps prevent treatable disorders through early detection.
New England Newborn Screening Program
Biotech 4, 2^nd Floor
UMass Chan Medical School
377 Plantation Street
Worcester, MA 01605
Phone: 774-455-4600
Email: nbs@umassmed.edu

Info for parents

Why screening is important for all babies.

New England Regional Genetics Group (NERGG)

Consortium of genetic service providers, public health planners, and consumer groups.  Promotes quality genetic services and educational programs through the NE region.
Cynthia Ingram RN BSN  Executive Director
New England Regional Genetics Group (NERGG)
PO Box 4296
Burlington, VT 05406
Email: director@nergg.org
Phone: 617-963-0900

Other Information:

For additional information about birth defects:

Center for Human Genetics 

Offers genetic diagnostic tests, clinical diagnosis, prenatal diagnosis, and genetic counseling services, as well as education programs for over 30 years.
Riverside Technology Center
840 Memorial Drive, Suite 101
Cambridge, MA 02139
Phone: 617-492-7083
Email Addresses: amilunsky@chginc.org or jmilunsky@chginc.org

Birth Defects Facts – US National Library of Medicine

A birth defect is a problem that happens while a baby is developing in the mother’s body. Most birth defects happen during the first 3 months of pregnancy.

Birth Defects: Overview – National Institute of Child Health and Human Development

Birth defects are structural (how the body is built) or functional (how the body works) abnormalities present at birth that can cause physical disability, intellectual and developmental disorders, and other health problems.

Specific Birth Defects & Other Health Conditions – Centers for Disease Control and Prevention (CDC)

Major birth defects are structural changes in one or more parts of the body. They are present at birth. They can have a serious, adverse effect on the health, development, or functional ability of the baby.

Information for Families Living with Birth Defects – (CDC)

Tools and information about birth defects for families.

Fact Sheet last updated on: 8/13/2024

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