Definition of Birth Defect

Definition of Birth Defect 1. Birth Defect: A birth defect is an abnormality of structure, function or metabolism, whether genetically determined or a result of environmental influences during embryonic or fetal life. A birth defect may present from the time of conception through one year after birth, or later in life. a. From birth to one year of age certain principal birth defects shall be reported. b. Other birth defects found later in life may be reported at any time up to age twenty-one. 2. Reportable Birth Defects: Live Births and Reportable Fetal Deaths with birth defects (fetal death of 20 completed weeks of gestation or more, or a weight of 350 grams or more) shall be reported. Birth Defects of the following categories must be reported: Craniofacial GI/GU Neural Tube Teratogen Cardiac Skeletal Genetic Disorders Skin Congenital Tumors Central Nervous System 3. Persons and Entities Required to Provide Information to the Registry a. The physician must report every birth defect case the first time the patient is seen, for individuals born on or after January 1, 2000. A reporting form or its equivalent as determined by the Mississippi State Department of Health is required when reporting a suspected or diagnosed birth defect. If the patient is seen for another birth defect on another occasion, that defect shall also be reported. b. Appropriate birth certificate data will be reported. c. Appropriate data from other department registries such as the Cancer Registry, Newborn Hearing Registry will be reported. d. The state (s) tertiary care center and other hospitals will report data through newborn discharge summaries or by completing and submitting individual reporting forms. e. Appropriate data on specified disorders detected through newborn screening will be reported. 4. Criteria for Inclusion as a Case a. The infant/fetus must have a reportable structural defect, newborn screening disorder, functional or metabolic disorder, genetically determined or a defect resulting from an environmental influence during embryonic or fetal life. b. The defect optimally should be diagnosed or its signs and symptoms recognized within the first year of life, but defects can be recognized and included up to twenty-one years of age. c. An infant must have been born alive or a fetus must have gestational age of at least 20 weeks or a birth weight of at least 350 grams to be included in the Birth Defects Registry. 5. Process for Making Records and Other Information Available to The Birth Defects Registry a. Hospitals, physicians, and other health care professionals may submit records and birth defect information electronically or by completing and submitting individual reporting forms. b. The following persons who act in compliance with this section are not civilly or criminally liable for furnishing the information required under this section: i. A hospital, clinical laboratory, genetic treatment center or other health care facility; ii. An administrator, officer or employee of a hospital, clinical laboratory, genetic treatment center or other health care facility; and iii. A physician or employee of a physician. c. The department field staff will visit health care facilities to gather medical and other required information of children with birth defects. This information will be recorded on registry data report forms. The department may obtain records and/or test results of individuals with known or potential birth defects not previously reported. 6. Confidentiality and Security a. Information collected and analyzed by the department under this section shall be placed in the central registry to facilitate epidemiological studies/ reviews and to maintain security. i. Data obtained under this section directly from the medical records of a patient is for the confidential use of the department and the persons or public or private entities that the department determines are necessary to carry out the intent of this section. The data is privileged and may not be divulged or made public in a manner that discloses the identity of an individual whose medical records have been used for obtaining data under this section. ii. Information that may identify an individual whose medical records have been used for obtaining data under this section is not available for public inspection under the Mississippi Public Records Act of 1993. iii. Statistical information collected under this section is public information. b. Misuse of the Registry Data: Any person or entity who misuses the information provided to the registry shall be subject to a civil penalty of Five Hundred Dollars ($500.00) for each such failure or misuse. Such penalty shall be assessed and levied by the board after a hearing, and all such penalties collected shall be deposited into the State General Fund. 7. Policies and Procedures The department will maintain written policies and procedures to guide the operations of the Birth Defects Registry.