Abstracting: The process of recording information, identified when reviewing documentation in a medical record or other information source, and entering the information into data fields in a specified format.
Active case ascertainment: A surveillance approach to case identification that is based on surveillance staff being engaged intensively in all activities related to finding and confirming potential birth defects cases.
Administrative data set: A data set or database that is created to fulfill operational or managerial objectives.
Agenesis: Failure of an organ to form.
All limb deficiencies (reduction deformities): Complete or partial absence of the upper arm (humerus), lower arm (radius and/or ulna), wrist (carpals), hand (metacarpals), fingers (phalanges), thigh (femur), lower leg (tibia and/or fibula), ankle (tarsals), foot (metatarsals), or toes (phalanges).
Anencephalus: Partial or complete absence of the brain and skull.
Aniridia: The complete absence of the iris of the eye or a defect of the iris.
Anomaly: Anything that is structurally unusual or irregular or contrary to a general rule.
Anophthalmia/microphthalmia: Total absence of eye tissue or absence of the globe / Reduced volume of the eye.
Anotia/microtia: Congenital absence of one or both ears / malformation or small external ear.
Aortic valve stenosis: Obstruction or narrowing of the aortic valve, which may impair blood flow from the left ventricle to the aorta.
Aplasia: Absence of a tissue or organ due to lack of cell proliferation.
Association: A nonrandom pattern of anomalies that occur together more frequently than expected by chance alone, but for which no etiology has been demonstrated. Use of the term association does not indicate that a specific diagnosis has been made.
Atresia: Imperforation; absence or closure of a normal opening.
Atrial septal defect: An opening in the wall (septum) that separates the left and right top chambers (atria) of the heart.
Atrioventricular septal defect (endocardial cushion defect): A defect in both the lower portion of the atrial septum and the upper portion of the ventricular septum. Together, these defects producing a large opening (canal) in the central part of the heart.
Biliary atresia: Congenital absence of the lumen of the extrahepatic bile ducts.
Birth defect: A term encompassing a diversity of conditions including physical malformations, sensory deficits, chromosomal abnormalities, metabolic defects, neurodevelopmental disorders, and complications related to prematurity and low birth weight, among others.
Bladder exstrophy: Exterior wall of the bladder through which the lining of the bladder is exposed to the outside.
Case ascertainment: The process of identifying “ from existing sources and using defined case definitions “ of embryos, fetuses, neonates, infants, and children who have a birth defect.
Cataract: An opacity (clouding) of the lens of the eye.
Choanal atresia: Congenital obstruction of the opening of the nasal cavity into the nasopharynx on either side.
Cleft lip: Congenital facial abnormality of the lip (usually of the upper lip) resulting from failure of union of the medial and lateral nasal prominences and maxillary process.
Cleft lip with cleft palate: A defect in the upper lip resulting from incomplete fusion of the parts of the lip, with an opening in the roof of the mouth.
Cleft lip without cleft palate: A defect in the upper lip resulting from incomplete fusion of the parts of the lip.
Cleft palate without cleft lip: An opening in the roof of the mouth resulting from incomplete fusion of the shelves of the palate.
Cloacal exstrophy: Congenital persistence of a common cloacal cavity into which gut, urethra, and reproductive tracts open with exstrophy of the cavity.
Clubfoot (Talipes equinovarus): Forefoot toward the body) of the foot.
Cluster: An apparently unusual concentration of a health condition in a particular area and time period.
Coarctation of the aorta: Narrowing of the descending aorta, which may obstruct blood flow from the heart to the rest of the body.
Common truncus (truncus arteriosus): Failure of separation of the aorta and the pulmonary artery during development, resulting in a single common arterial trunk carrying blood from the heart to both the body and lungs.
Confidence interval: A statistical tool used to express the level of certainty with regard to the prediction of a statistical estimate (i.e., prevalence of a particular defect). For example, the 95% confidence interval will contain the true prevalence (which is unknown and what is being estimated) 95% of the time.
Congenital: Present at birth. A condition that is congenital is present at birth.
Congenital cataract: Clouding of the lens of the eye that is present at birth.
Congenital hip dislocation: A defect in which the head of the femur does not articulate with the acetabulum of the pelvis because of an abnormal shallowness of the acetabulum.
Congenital posterior urethral valves: Posterior urethral valves (PUV) are tissue folds of the posterior urethra and function as valves obstructing urine outflow.
Conjoined twins: Monozygotic twins who are physically united at birth. The defect can range from a superficial connection to one in which only a single body part is duplicated.
Corpus callosum: The area of the brain which connects the two cerebral hemispheres.
Craniosynostosis: Premature closure (fusion) of one or several cranial sutures (connective tissue membranes that separate the bones of the developing skull).
Data collection: The process of gathering information, which includes receiving, retrieving, accessing, abstracting, and extracting information from information sources.
Data source: Any facility, site, or entity that has cases or potential cases of birth defects or other pertinent medical information.
Deformation: A major anomaly that results from molding of part of a structure, usually over a prolonged time, by mechanical forces after its initial formation.
Deletion 22q11.2: Chromosome abnormality resulting from genomic microdeletions within a critical region on the long arm of chromosome 22 (22q11.2).
Diaphragmatic hernia: Incomplete formation of the diaphragm through which a portion of the abdominal contents herniate into the thoracic cavity.
Disease coding: The process of assigning a standardized disease code (e.g., ICD or six-digit CDC code) to medical information.
Disruption: A major anomaly that results from alteration of a structure after its initial formation. The resulting structure may have an altered shape and configuration, abnormal division or fusion of its component parts, or loss of parts that were previously present.
Double outlet right ventricle: The pulmonary artery and the aorta both arise from the right ventricle.
Down syndrome: Chromosomal dysgenesis syndrome consisting of a variable constellation of abnormalities caused by triplication or translocation of chromosome 21. The abnormalities include intellectual disability, flat hypoplastic face with short nose, prominent epicanthic skin folds, small low set ears with prominent antihelix, fissured and thickened tongue, laxness of joint ligaments, pelvic dysplasia, broad hands and feet, stubby fingers and transverse palmar crease. Lenticular opacities and heart disease are common.
Dysgenesis: Anomalous or disorganized formation of an organ.
Dysplasia: Disorganized cell structure or arrangement within a tissue or organ.
Ebstein anomaly: Abnormal formation and downward displacement of the tricuspid valve into the right ventricle.
Edwards syndrome: A chromosomal disorder consisting of triplication of chromosome 18, that is usually fatal within 2: 3 years. It is characterized by mental retardation, abnormal skull shape, low set and malformed ears, small mandible, cardiac defects, short sternum, diaphragmatic or inguinal hernia, Meckel diverticulum, abnormal flexion of fingers and dermatoglyphic anomalies.
Embryonic period: The first eight weeks after fertilization during which most, but not all, organs are formed.
Encephalocele: Herniation of brain tissue and/or meninges through the skull. The hernia sac is usually covered by skin.
Endocardial cushion defect: A variety of septal defects (malformations of the walls separating the two atria and two ventricles of the heart) resulting from imperfect fusion of the endocardial cushions in the embryonic heart.
Epispadias: A congenital defect in which the urinary meatus (urinary outlet) opens above (dorsal to) the normal position. The urinary sphincters are defective, so incontinence does occur.
Esophageal stenosis or atresia: The esophagus ends in a blind pouch and fails to connect with the stomach / abnormal communication between the esophagus and the trachea.
Extremely low birth weight: Birth weight less than 1,000 grams, regardless of gestational age.
Fetal alcohol syndrome: A constellation of physical abnormalities (including characteristic abnormal facial features and growth retardation), and problems of behavior and cognition in children born to mothers who drank alcohol during pregnancy.
Fetal death: Death prior to the complete expulsion or extraction of a product of human conception from its mother if the 20 th week of gestation has been reached and the death is indicated by the act that after such expulsion or extraction, the fetus does not breathe or show any other evidence of life such as beating of the heart, pulsation of the umbilical cord or definite movement of voluntary muscles. Fetal death is also known as stillbirth.
Fetal period: The period from the ninth week after fertilization through delivery.
Fistula: An abnormal passage from an internal organ to the body surface or between two internal organs or structures.
Folic acid: One of the B vitamins especially important for a woman to take before conception to help prevent neural tube defects in a fetus; essential for DNA synthesis and therefore the growth and division of cells; obtained from fortified foods or from a multivitamin containing at least 4mg; also found in natural sources including liver, beans, and leafy green vegetables. While folate and folic acid are both forms of water-soluble B vitamins, folic acid refers to the synthetic vitamin used in supplements, whereas folate is the form found in foods.
Gastroschisis: A congenital opening or fissure in the anterior abdominal wall lateral to the umbilicus through which the small intestine, part of the large intestine, and occasionally the liver and spleen, may herniate.
Hernia: A protrusion of an organ or part through connective tissue or through a wall of the cavity in which it is normally enclosed.
Hirschsprungs™ disease (congenital megacolon): The absence of autonomic ganglia (nerves controlling involuntary and reflexive movement) in the muscles of the colon.
Holoprosencephaly: Structural brain anomaly in which the brain fails to cleave.
Hydrocephalus: The abnormal accumulation of fluid within the spaces of the brain.
Hyperplasia: Overgrowth of a tissue or organ due to excess proliferation of otherwise normal cells.
Hypoplasia: Undergrowth of a tissue or organ due to insufficient proliferation of otherwise normal cells.
Hypoplastic left heart syndrome: A condition in which the structures on the left side of the heart and the aorta are extremely small.
Hypospadias: Displacement of the opening of the urethra.
Induced abortion: The purposeful interruption of pregnancy with the intention other than to produce a live birth and which does not result in a live birth.
Infant death: Death of a live-born infant before 12 months of age.
Interrupted aortic arch: Complete loss of communication (interruption) between the ascending and descending aorta, usually associated with a malalignment-type ventricular septal defect (VSD).
Live birth: The complete expulsion or extraction of a product of human conception from its mother, irrespective of the duration of pregnancy, which, after such expulsion, breathes or shows any other evidence of life such as beating of the heart, pulsation of the umbilical cord, and definite movement of the voluntary muscles, whether or not the umbilical cord has been cut or the placenta is attached.
Low birth weight: Birth weight less than 2,500 grams, regardless of gestational age.
Major anomaly: A congenital abnormality that requires medical or surgical treatment, has a serious adverse effect on health and development, or has significant cosmetic impact.
Malformation: A major anomaly that arises during organogenesis. The resulting structure may be abnormally formed, incompletely formed or may fail to form altogether.
Medical records review: The process of reading, identifying interpreting, and translating documentation per specific program objectives.
Microcephaly: The congenital smallness of the head, with corresponding smallness of the brain.
Microphthalmia: The congenital abnormal smallness of one or both eyes.
Microtia: A small or maldeveloped external ear and atretic or stenotic external auditory canal.
Minor anomaly: A congenital abnormality that does not require medical or surgical treatment, does not seriously affect health and development, and does not have significant cosmetic impact.
Monitoring: The performance and analysis of routine measurements using statistical methods aimed at detecting changes in the environment or health status of populations.
Mosaicism: An individual organism that has two or more kinds of genetically different cell types. The degree of abnormality depends on the type of tissue containing affected cells. Individuals may vary from near normal to full manifestation of the genetic syndrome.
Multiple malformations: Two or more defects affecting an infant and occurring in different organ-systems or body sites, that are not part of a known embryological sequence or syndrome, and do not have a common primary defect.
Neonatal death: Death of a live-born infant within the first 28 days after birth. Early neonatal death refers to death during the first 7 days. Late neonatal death refers to death after 7 days but before 29 days.
Neonatal (newborn) period: The first 28 days following delivery of a live-born infant.
Neural tube defect: A defect resulting from failure of the neural tube to close in the first month of pregnancy. Defects in this category include anencephaly, spina bifida, and encephalocele.
Normal variant: A minor anomaly that occurs in approximately 4% or more of the population
Obstructive genitourinary defect: Stenosis or atresia of the urinary tract at any level.
Omphalocele: A defect in the anterior abdominal wall in which the umbilical ring is widened, allowing herniation of abdominal organs, including the small intestine, part of the large intestine, and occasionally the liver and spleen, into the umbilical cord. The herniating organs are covered by a nearly transparent membranous sac.
Passive case ascertainment: A surveillance approach to case identification whereby birth defects programs receive case reports from data sources.
Patau syndrome: A chromosomal disorder consisting of triplication of chromosome 13 that is usually fatal within 2 years. It is characterized by mental retardation, malformed ears, cleft lip or palate, microphthalmia or coloboma, small mandible, polydactyly, cardiac defects, convulsions, renal anomalies, umbilical hernia, malrotation of intestines and dermatoglyphic anomalies.
Perinatal: Before, during or after delivery. The exact time period may vary from 20 to 28 completed weeks of gestation through 7 to 28 days after delivery, depending on the context in which the term is used.
Patent ductus arteriosus: A blood vessel between the pulmonary artery and the aorta. This is normal in fetal life, but can cause problems after birth, particularly in premature infants.
Poisson regression: A type of statistical modeling based on the a particular type of numerical distribution that is used to compare rates of rare occurrences such as birth defects between different population groups, different areas, or different times.
Population-based surveillance: Surveillance that identifies a population under study, usually defined by geopolitical boundaries, and establishes the denominator from which cases come.
Postnatal: After delivery.
Postterm infant: An infant born after 42 completed weeks of gestation.
Prenatal: Before delivery.
Preterm infant: An infant born before 37 completed weeks of gestation.
Prevalence: Calculated as the number of cases with a particular birth defect in an area over a particular time period, divided by the number of live births in the same area and over the same time period. For birth defects prevalence at live birth, this number is typically multiplied by 10,000 and reported as â€œthe number of cases of birth defect X per 10,000 live births in the geographic area Y during time period Z.
Pulmonary valve atresia or stenosis: Congenital heart condition characterized by absence or constriction of the pulmonary valve.
Pyloric stenosis: A narrowing of the pyloric sphincter at the outlet of the stomach, causing a blockage of food from the stomach into the small intestine.
Rectal and large intestinal atresia/stenosis: Complete or partial occlusion of the lumen of one or more segments of the large intestine and/or rectum.
Reduction deformity, lower limbs: The congenital absence of a portion of the lower limb. There are two general types of defect, transverse and longitudinal. Transverse defects appear like amputations, or like missing segments of the limb. Longitudinal defects are missing rays of the limb (e.g., a missing tibia and great toe).
Reduction deformity, upper limbs: The congenital absence of a portion of the upper limb. There are two general types of defect, transverse and longitudinal. Transverse defects appear like amputations, or like missing segments of the limb. Longitudinal defects are missing rays of the limb (e.g., a missing radius and thumb).
Registry: A system of ongoing registrations, such that cases of a disease or other health-relevant condition are defined in a population and can be related to a population base. Birth and death registration systems are examples. Some disease registries, like the cancer registry, closely resemble public health surveillance systems and have epidemiologic value.
Renal agenesis/hypoplasia: Absence or incomplete development of the kidney.
Reportable disease: A disease, laboratory result, or health condition of public health significance that requires notification of its occurrence to a public health agency. Congenital defects are reportable in Florida.
Reporting source: A data source that is required, by law, to report or allow access to cases of birth defects and other pertinent medical conditions to the birth defects program.
Risk factor: A characteristic statistically associated with, although not necessarily causally related to, an increased risk of morbidity of mortality.
Sequence: A pattern of anomalies that results from a single primary anomaly or mechanical factor. The presence of the initial anomaly or factor leads to one or more secondary anomalies, which may then lead to one or more tertiary anomalies etc., in cascade fashion.
Single ventricle (common ventricle): Instead of two separate ventricles, there is only one morphological ventricle, most commonly a double-inlet left ventricle.Disorder affecting one lower chamber of the heart. The chamber may be smaller, underdeveloped, or missing a valve.
Small intestinal atresia/stenosis: Rectal and large intestinal atresia/stenosis.
Spina bifida: Embryologic failure of fusion of one or more vertebral arches.
Spina bifida aperta: See spina bifida cystica.
Spina bifida cystica: Spina bifida associated with a meningeal cyst (meningocele) or a cyst containing both meninges and spinal cord (meningomyelocele) or only spinal cord (myelocele).
Spina bifida without anencephalus: Incomplete closure of the spine through which spinal cord tissue and/or the membranes covering the spine herniate.
Spontaneous abortion (miscarriage): Spontaneous delivery of a fetus at less than 20 weeks gestation.
Stillbirth: See fetal death.
Surveillance: The ongoing systematic collection, analysis, and interpretation of outcome-specific data for use in the planning, implementation, and evaluation of public health practice.
Syndrome: A pattern of anomalies that form a specific diagnosis for which the natural history and recurrence risk are usually known.
Term infant: An infant born after 37 completed weeks and before 42 completed weeks of gestation.
Termination (elective): See Induced abortion.
Tetralogy of Fallot: The simultaneous presence of a ventricular septal defect (VSD), pulmonic and subpulmonic stenosis, a malpositioned aorta that overrides the ventricular septum, and right ventricular hypertrophy.
Total anomalous pulmonary venous return: A condition in which all 4 pulmonary veins connect anomalously into the systemic venous circulation to the right atrium or the body (systemic veins) instead of the left atrium.
Tracheoesophageal fistula: An abnormal passage between the esophagus and trachea.
Transposition of the great arteries: Transposition of the aorta and the pulmonary artery such that the aorta arises from the right ventricle (instead of the left) and the pulmonary artery arises from the left ventricle (instead of the right).
Tricuspid valve atresia and stenosis: Obstruction or narrowing of the tricuspid valve, which may impair blood flow from the right atrium to the right ventricle.
Trisomy: A chromosomal abnormality characterized by one more than the normal number of chromosomes (cells contain three instead of the normal two copies of a specific chromosome).
Trisomy 13: The presence of three copies of all or a large part of chromosome 13. See also Patau syndrome.
Trisomy 18: The presence of three copies of all or a large part of chromosome 18. See also Edwards syndrome.
Trisomy 21(Down Syndrome): The presence of three copies of all or a large part of chromosome 21. See also Down syndrome.
Truncus arteriosus: See Common Truncus.
Turner syndrome: Presence of an absent or structurally abnormal second X chromosome in a phenotypic female.
Ventricular septal defect: An opening in the wall (septum) that separates the left and right ventricles of the heart.
Very low birth weight: birth weight less than 1,500 grams, regardless of gestational age.