Welcome to the State of California 

Glossary

MO-08-0081 CBDMP

CBDMP Home

A  B C D E F G H I J K L M N O P Q R S T U V W X Y Z
 

A

Abdominal Wall Defects
Incomplete development of the skin and muscles of the belly, allowing internal organs to protrude into the umbilical cord (omphalocele) or outside the body (gastroschisis). Also called ventral wall defects (VWD). ACRONYM: AWD
Abstracting
The process of extracting diagnostic and demographic information from a medical record to create a confidential document that identifies and describes a CBDMP reportable case.
Achondroplasia
A genetic disorder disturbing normal growth of cartilage, resulting in a form of dwarfism characterized by a usually normal torso and shortened limbs, and usually inherited as an autosomal dominant trait which means that if a child gets the defective gene from one parent, the child will have the disorder.
Agenesis
Failure to develop; absence.
Alcohol-related birth defects
Children who had prenatal alcohol exposure, but do not manifest the full symptoms of fetal alcohol syndrome (FAS) may exhibit alcohol-related birth defects. Caused by prenatal alcohol exposure and refers to alcohol induced physical anomalies. ACRONYM: ARBD
Alcohol-related neurodevelopmental disorder
Children who had prenatal alcohol exposure but do not manifest the full symptoms of fetal alcohol syndrome (FAS) may exhibit alcohol-related neurodevelopmental disorder. Caused by prenatal alcohol exposure and refers to alcohol-induced cognitive and behavioral problems without the characteristic facial or growth abnormalities seen among children with FAS. ACRONYM: ARND
Alpha Fetoprotein
A plasma protein normally produced by the fetus that can be found in the mother’s blood (the maternal serum AFP). It provides a screening test for neural tube defects. Prenatal maternal lab tests are done at 15-20 weeks gestation. ACRONYM: AFP
Amniocentesis
A prenatal test where amniotic fluid is withdrawn using a needle inserted into the uterus. The fluid and the cells it contains can be used to perform tests on the fetus, including chromosome testing. Usually performed in the 2nd trimester.
Amniotic Bands
Strands of tissue that float in the amniotic fluid as a consequence of tears or ruptures in the amniotic membrane which surrounds the fetus during development.
Anal Atresia
Incomplete development of the lowest part of the large intestine, preventing passage of stool (feces).
Analytic Registry
The Registry of closed birth year data that has undergone year end processing (YEP), linking and quality control.
Anencephaly
Neural tube defect where the brain and skull do not form completely. Affected babies die, either before birth (stillbirth) or shortly thereafter. Because the brain is only partly formed, affected newborns cannot control basic life functions like breathing.
Aniridia
Congenital absence or defect of the iris.
Anopthalmia
A developmental defect characterized by complete absence of the eyes or apparent absence of the globe in an otherwise normal orbit.
Anotia
Congenital absence of the external ear.
Aortic Artery/Valve (Stenosis) Defect
Heart defect involving the aorta (the main blood vessel leading from the heart). Defects include narrowing or complete closure of the vessel (artery) or valve (connection between the heart and the aorta). ACRONYM: AVS
Association
A nonrandom pattern of anomalies that occur together more frequently than expected by chance alone, but for which no etiology has been demonstrated. Examples include VACTERL association (Vertebral, Anal, Cardiac, Tracheo-Esophageal, Renal, and Limb anomalies) and CHARGE association (Colobomas, Heart defects, choanal Atresia, Retarded growth and  development and/or central nervous system anomalies, Genital anomalies and/or hypogondaism, Ear anomalies and/or deafness). Use of the term ‘association’ does not indicate that a specific diagnosis has been made.
Atresia
Absence or blockage of an opening such as the intestinal tract.
Atrial Septal Defect
An atrial septal defect is a hole (defect) in the wall (septum) that separates the two upper chambers of the heart, called atria. This hole between the heart chambers disrupts the flow of blood and oxygen to the body. ACRONYM: ASD
Atrioventricular Canal
Heart defect common in Down Syndrome where the intersection between the heart’s 4 chambers (the atria and the ventricles) doesn’t close completely. Also called endocardial cushion defect. ACRONYM: AV canal
Autism
A development disability that can cause problems with communication, social interaction and routine/repetitive behaviors. Although not diagnosed at birth, autism probably has origins in prenatal development and therefore is a type of birth defect.
Autosomal / Autosomes
A non-sex chromosome. It is an ordinarily paired type of chromosome that is the same in both sexes of a species. People normally have 22 pairs of autosomes (44 autosomes) in each cell together with two sex chromosomes (X and Y in the male and XX in the female).
Autosomal Dominant
Inheritance pattern where only 1 of the gene pair is needed to cause the trait in question. The disease-causing gene can be inherited from an affected parent or arise as a new mutation. (Autosome means the gene is carried on a non-sex-determining chromosome – 1 of 22 chromosome pairs that are the same in males and females). ACRONYM: AD
Autosomal Recessive
A genetic condition that appears only in individuals who have received two copies of an autosomal gene, one copy from each parent. The gene is on an autosome, a nonsex chromosome. The parents are carriers who have only one copy of the gene and do not exhibit the trait because the gene is recessive to its normal counterpart gene. ACRONYM: AR
 

A  B C D E F G H I J K L M N O P Q R S T U V W X Y Z

B

Beckwith-Wiedemann Syndrome
An overgrowth disorder present at birth characterized by an increases risk of childhood cancer and certain features. Five common features used to define BWS are: macroglossia (large tongue), macrosomia (birth weight and length >90th percentile), midline abdominal wall defects (omphalocele, umbilical hernia, diastasis recti), ear creases or ear pits, and neonatal hypoglycemia (low blood sugar after birth). ACRONYM: BWS
Bias
Potential source of error in epidemiology studies. If people with/without the risk factor are more likely to be included in a study, results may not be impartial.
Bilateral
Occurring on both sides. For example, bilateral limb defects affect both arms or both legs.
Biliary atresia
Congenital absence or closure of the major bile ducts, the ducts that drain bile from the liver.
Birth Defects
Conditions resulting from faulty prenatal development. Structural birth defects – those affecting the body – are usually apparent in the first year of life. Functional problems in brain development (leading to learning problems or mental retardation) may not be apparent until childhood.
Birth Defects Association
A group of birth defects that occur together more frequently than predicted by chance. For example, the VATER association includes Vertebral defects. Anal atresia, Trasheo-Esophageal defects and Renal (kidney) problems. An association can have a variety of underlying causes (chromosome abnormalities, for instance) or the cause may be unknown.
Birth Defects Research for Children, Inc.
A resource for free birth defect information, parent networking and birth defect research through the National Birth Defect Registry.
Birth Defects Sequence
A group of birth defects cause by a single underlying event. For example, when the fetus does not urinate because of faulty kidney development, the lack of amniotic fluid (formed from fetal urine) restricts chest/lung growth and causes loose skin as well as club feet. These are all secondary characteristics of the sequence; the primary event is the abnormal kidney development.
Birth Defects Syndrome
A characteristic pattern of physical findings. Down syndrome-associated with a chromosome abnormality-is an example. There are many recognized syndromes where causes are unknown, however.
Birth Year
A calendar year in which stillbirths, terminated pregnancies or live births occur.
Bladder exstrophy
A defect in the lower abdominal wall and anterior (front) wall of the bladder through which the lining of the bladder is exposed to the outside.
British Pediatric Association
Numeric codes used to classify diseases and a wide variety of symptoms, abnormal findings, complaints and external causes of injury or disease. ACRONYM: BPA
 

A  B C D E F G H I J K L M N O P Q R S T U V W X Y Z

C

California Birth Defects Monitoring Program
A California State Program established in 1982 for birth defects monitoring. CBDMP collects and analyzes data to identify opportunities for preventing birth defects and improving the health of babies. ACRONYM: CBDMP
California Children’s Services
A state program for children with certain diseases or health problems. Through this program, children up to 21 years of age can get the health care and services they need. CCS will connect you with doctors and trained health care people who know how to care for a child with special health care needs. (Eligibility is income based). ACRONYM: CCS
California Department of Public Health
A California State Department dedicated to optimizing the health and well-being of the people in California. ACRONYM: CDPH
California Healthy Families Program
Low cost insurance for children and teens. Provides health, dental and vision coverage to children who do not have insurance and do not qualify for free Medi-Cal.
Cardiac Defects
See Heart Defects
Carrier
A person who has a gene mutation in one of their genes (genes come in pairs) that can cause a disease, but does not have any symptoms of the disease themselves. The mutation is often recessive, which means that both copies of the gene have to be mutated in order for disease symptoms to develop. Carriers are able to pass the mutation on to their children and therefore have an increased chance of having a child with the disease.
Case-control Study
Epidemiology study that uses a sample group of people rather than the entire population. It compares characteristics of those with birth defects (cases) and those without (controls). The key question is: Does a specific exposure occur more in cases than in controls?
Casefinding
The process of identifying potential cases from medical or hospital logs, diagnostic indices, appointment rosters and other records for inclusion in the California Birth Defects Monitoring Program (CBDMP) Registry.
Centers for Disease Control and Prevention
The CDC serves as the national focus for developing and applying disease prevention and control, environmental health, and the health promotion and health education activities designed to improve the health of the people of the United States. ACRONYM: CDC
Central Nervous System
The brain and spinal cord. ACRONYM: CNS
Central Tracking
CBDMP tracking system for routing abstracts. ACRONYM: CT
Cerebral Palsy
Condition where the brain does not properly control muscles and movement. Some people with cerebral palsy have additional disabilities, such as mental retardation or seizures. Although not a structural birth defect, cerebral palsy may have its origins in prenatal development and is sometimes accompanied by structural birth defects.  ACRONYM: CP
Choanal atresia or stenosis
A congenital anomaly in which a bony or membranous formation blocks the passageway between the nose and the pharynx. This defect is usually repaired surgically after birth.
Chorionic Villus Sampling
A prenatal test usually done in the 1st trimester to detect fetal abnormalities. A small piece of the developing placenta is withdrawn; because this has the same genetic make-up as the developing fetus, it can be used for genetic or chromosome tests. ACRONYM: CVS
Chromosome / Chromosome Abnormalities
Packages containing the genes, located in every cell of the body. Normally, humans have 46 chromosomes – half come from the mother and half from the father. Extra or missing chromosomes – or even parts of chromosomes – generally result in multiple birth defects and mental retardation.
Chronic
Any condition that lasts for a long period of time or occurs frequently.
Cleft Lip
Incomplete development of the lip, usually occurring on the upper lip. The split in the lip can occur on either or both sides (unilateral or bilateral cleft) and may be accompanied by a cleft palate. (Bilateral cleft lip was formerly called “harelip.”)
Cleft Palate
Incomplete development of the roof of the mouth. It can occur alone or accompanied by a cleft lip.
Closed Birth Year
A collection of birth data for a calendar year, after case finding and abstracting have been completed.
Cluster Investigation
Systematic evaluation of an unusual number or presentation of birth defects cases.
Coarctation of the Aorta
Occurs when the aorta is pinched or constricted. This obstructs blood flow to the lower body and increases blood pressure above the constriction.
Colorectal Atresia
Abnormally formed segments in the colon or rectum (large intestine) block food movement during digestion; besides obstructions, there are often abnormal connections between the intestines and genitourinary tract. Surgery must be done at birth to remove the underdeveloped areas and reconnect the bowel. (See intestinal atresia, anal atresia.)
Committee for the Protection of Human Subjects
Also called IRB. ACRONYM: CPHS
Confidence Interval
Calculation that helps show the statistical precision of a rate. It shows the most likely range of the “true” rate – a wide confidence interval indicates the uncertainty stemming from small numbers; a narrow interval reflects a high degree of
statistical confidence. ACRONYM: CI
Confounding
Epidemiologic term describing characteristics closely linked to the exposure under study, possible leading to incomplete or incorrect conclusions. For example, maternal obesity is liked to neural tube defects. Does obesity cause neural tube defects directly? Or is a linked factor – such as nutrition, altered metabolism or underlying genetic defect – responsible?
Congenital Abnormality
A problem present at birth (see Birth Defects).
Conotruncal Heart Defects
Heart defect occurring early in development, involving faulty septation / connection of the heart’s chambers and/or the major blood vessels leaving the heart.
Congenital Cataract
An opacity (not transparent or translucent) of the lens of the eye that has its origin prenatally.
Congenital hip dislocation
Location of the head of the femur (bone of the upper leg) outside its normal location in the cup-shaped cavity formed by the hip bones.
Conjoined twins
Monozygotic (identical) twins who are physically united at birth. The defect can range from superficial (skin only) connection to one in which only a single body part is duplicated.
Craniofacial
Involving the face and skull.
Craniosynostois
Too early closure of the skull bones, causing unusual head shape.
Cyclopia
An abnormality characterized by the development of a single eye, located in the area normally occupied by the root of the nose, and a missing nose or a nose in the form of a proboscis (a tubular appendage) located above the eye.
Cystic Fibrosis
An inherited chronic disease that affects the lungs and digestive system. A defective gene and its protein product cause the body to produce unusually thick, sticky mucus that clogs the lungs and leads to life-threatening lung infections, and obstructs the pancreas and stops natural enzymes from helping the body break down and absorb food. ACRONYM: CF
 

A  B C D E F G H I J K L M N O P Q R S T U V W X Y Z

D

Data Collection Specialist
CBDMP staff assigned to abstract data from hospital and genetic medical records.
Date of Birth
ACRONYM: DOB
Date of Death
ACRONYM: DOD
Deformation
A deformation is caused by an abnormal external force on the fetus during in utero development that results in abnormal growth or formation of the fetal structure. Examples of forces that may lead to a deformation include oligohydramnios (diminished amniotic fluid) and intrauterine crowding in twin, triplet, or higher order pregnancies. An example of deformation is the Potter sequence, in which the fetus may have a flattened face due to compression of the face against the uterine wall.
Demographics
Population characteristics such as race/ethnicity, age, education level, residence.
Deoxyribonucleic Acid
Molecular (biochemical) basis for the gene. ACRONYM: DNA
Developmental Disabilities
Problems caused by delayed mental development, such as mental retardation.
Diabetes mellitus
Chronic illness causing high blood sugar levels; often treated with the drug insulin.
Diagnosis
The process of determining the nature and cause of a medical condition. ACRONYM: DX
Diagnostic Indices
Index of identified illness, disorder or problem. ACRONYM: DI
Diaphragmatic Hernia
Incompletely formed diaphragm (muscular sheet diving the chest and abdomen) allows the stomach, liver and other abdominal organs to move into the chest. This crowds the developing lungs, which may be too small to support breathing after birth, even if the diaphragm is surgically repaired.
Dilantin
An anticonvulsant (seizure medication) that can cause birth defects.
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. Examples of disruption defects include intestinal atresia and possibly gastroschisis.
Dominant Inheritance
Some genetic defects are passed to a child through a process called dominant inheritance. This means that only one parent needs to have the genetic defect in order to pass it along to the child. Marfan syndrome and achondroplasia are dominant inheritance birth defects.
Down Syndrome
Condition where an extra chromosome 21 causes distinctive physical features and mental retardation; also called trisomy 21. (This condition was formerly called “mongolism.”)
Duodenal Atresia
Lacking a functional connection in the upper part of the intestine where it meets the stomach.
Dysgenesis
Abnormal formation of an organ or body structure.
 

A  B C D E F G H I J K L M N O P Q R S T U V W X Y Z

E

Ebstein’s anomaly
A very rare heart defect in which parts of the tricuspid valve are abnormal, giving the tricuspid valve a downward displacement. The tricuspid valve separates the lower heart chamber (right ventricle) from the upper heart chamber (right atrium).
Electromagnetic fields
The area in which electromagnetic radiation from a source exerts influence on another object with or without there being contact between them. Or The regions of space near electric currents, magnets, broadcasting antennas etc., regions in which electric and magnetic forces may act.
Embryonic Period
The first eight weeks after fertilization, during which most, but not all, organs are formed.
Encephalocele
A neural tube defect (NTD) present at birth that affects the brain. Involves a sac-like protrusion or projection of the brain, and the membranes that cover it, through an opening in the skull. Occurs when the neural tube does not close completely during pregnancy. See also Neural Tube Defect (NTD).
Endocardial Cushion Defect
See atrioventricular canal.
Environment / Surroundings
In research on prenatal development, this refers to the fetal surroundings and includes anything the expectant mother may come into contact with during pregnancy (the food she eats, the water she drinks, illnesses and medications, work exposures and so on.)
Entity Relationship Diagram
A diagram that pictorially represents entities, the relationships between them and the attributes used to describe them. ACRONYM: ERD
Epidemiology
Study of disease occurrence patterns in the human population to look for causes; measuring the relationship between an exposure and an outcome (in this case, birth defects).
Epispadias
A congenital defect in which the urinary outlet opens above the normal position. The urinary sphincters are defective, so incontinence does occur.
Esophageal Atresia
Condition where the upper and lower ends of the esophagus (the swallowing tube leading from the mouth to the stomach) are not connected. Often associated with tracheal defects (involving the breathing tube connecting the mouth and lungs).
Expanded Alpha Fetoprotein
Expanded AFP is a simple blood test performed between 15 and 20 weeks of pregnancy. The test provides information about the risk of neural tube defects, such as spina bifida, Down syndrome and other genetic problems. ACRONYM: XAFP
Expected Rate
Frequency of birth defects expected under typical conditions, based on studies of population averages. This serves as a reference point to compare with actual observations. For instance, birth defects occur in about 3% of newborns – this is the “expected rate.”
Exposure
Contact with a particular substance.
Extremely Low Birth Weight
Birth weight less than 1,000 grams, regardless of gestational age.
 

A  B C D E F G H I J K L M N O P Q R S T U V W X Y Z

F

Family Resource Centers Networks of California
Their mission is to support families of children with disabilities, special healthcare needs, and those at risk by ensuring the continuance, expansion, promotion and quality of family-centered, parent-directed, family resource centers.
Fetal Alcohol Syndrome
The sum total of the damage done to the child before birth as a result of the mother drinking alcohol during pregnancy. Fetal alcohol syndrome (FAS) always involved brain damage, impaired growth, and head and face abnormalities. One of the leading causes of mental retardation in the United States. FAS is an irreversible, lifelong condition. ACRONYM: FAS
Fetal Alcohol Spectrum Disorder
Physical findings and development disabilities caused by drinking alcohol during pregnancy. Characteristics include: low birth weight, poor growth after birth, small head, small eyelid openings, smooth philtrum (the area between the nose and lip) and thin upper lip. Alcohol-exposed children with developmental delays and behavior problems, but few of the physical features of FAS, may be designated as having “fetal alcohol effects.” ACRONYM: FASD
Fetal Death (Stillbirth)
Spontaneous delivery of an infant or fetus at 20 weeks or greater gestation that does not exhibit signs of life. Transient cardiac contractions and fleeting respiratory efforts or gasps are not necessarily considered signs of life by all programs. A late fetal death is a fetal death that occurs at 28 weeks or greater gestation.
Fetal Period
The period from the ninth week after fertilization through delivery.
Folic Acid
B vitamin found in green leafy vegetables and dried beans as well as in fortified cereal and flour. When taken around the time of conception and in early pregnancy, folic acid is associated with lower risk for neural tube defects, oral clefts, limb and heart defects.
 

A  B C D E F G H I J K L M N O P Q R S T U V W X Y Z

G

Gastroschisis
Condition where the intestines protrude through a hole in the abdomen to the side of the umbilical cord; part of the category abdominal wall defects.
Gastrointestinal Defects
Defects along the gastrointestinal tract (the mouth to the anus), including defects of the stomach, intestines.
Gene
Genetic blueprint for a single trait. A gene provides a template for the cell to make a specific protein. Controlling when and how much protein is made determines how the trait is expressed. Genes are inherited from the parents. A change in the gene’s structure is called a mutation. Genes can either be dominant or recessive. See dominant gene / recessive gene.
Genetic
Involving DNA, the genes or the chromosomes – the physical structures that guide development and are the basis of inheritance. However, not all genetic errors are inherited – they may be the result of a mutation or spontaneous change.
Genetic screening
Screening is the process of testing for disease in a person who does not show signs of having the disease (a nonsymptomatic or asymptomatic person). Screening is often done at the population level such as with Newborn Screening. The goal of screening is to identify the disease in its early stages and thus allow for treatment and preparation.
Genital Defects
Abnormalities of the reproductive/sex organs.
Genetic Disease Screening Program
A program within the California Department of Public Health whose mission is “to serve the people of California by reducing the emotional and financial burden of disability and death caused by genetic and congenital disorders.” The GSDP administers the Newborn Screening Program (NBS) and the Prenatal Screening Program (PNS).  ACRONYM: GDSP
Genitourinary Tract
External genitalia, internal reproductive organs and structures involved in collecting and carrying urine (bladder, urethra); these develop through related processes in early fetal life.
Genetic Counselor
Health professional specializing in birth defects and genetic disease, able to assess and discuss individual/family risk, recurrence risk and testing options, and make referrals for appropriate resources and support groups.
Gestation / Gestational Age
Pregnancy time span. For example, “20 weeks gestation” refers to the 20th week of pregnancy. The normal human gestation is 37-42 weeks. ACRONYM: GA
 

A  B C D E F G H I J K L M N O P Q R S T U V W X Y Z

H

Health Information Portability and Accountability Act
A federal law affecting all participants in the country’s health care system. ACRONYM: HIPAA
Heart Defects
Abnormal structures of the heart and/or large vessels leading from the heart; impairing distribution of oxygen and nutrients throughout the body. Also called cardiac defects.
Hereditary
Something that is passed on from a parent to the child, usually through the genes.
Hirschsprung Disease
A condition where sections of the intestine lack nerve stimulation; food is not moved through the gut, which becomes distended. Requires surgery to remove the faulty sections.
Holoprosencephaly
Serious brain abnormality where the developing forebrain fails to undergo normal division into 2 lobes. Facial development is often altered – there may be a single eye, closely spaced eyes with a single nostril, a midline cleft lip or a single central front incisor tooth. Holoprosencephaly often causes severe mental retardation and/or death.
Hydrocephalus
Fluid accumulation in the brain, often due to a blockage in the canals that distribute fluid within the brain and spinal cord.
Hyperplasia
Overgrowth characterized by an increase in the number of cells of a tissue.
Hypoplasia
A condition of arrested development in which an organ or part remains below the normal size or in an immature state.
Hypoplastic left heart syndrome
The structures of the left side of the heart (the left ventricle, the mitral valve, and the aortic valve) are underdeveloped and unable to pump blood adequately to the entire body. ACRONYM: HLHS
Hypoplastic right heart syndrome
The structures of the right side of the heart (pulmonary valve, right ventricle, tricuspid valve, pulmonary artery) are underdeveloped and cause inadequate blood flow to the lungs. ACRONYM: HLRS
Hypospadias
Birth defect of the penis where the urinary opening is misplaced (on the shaft or in the scrotum in the more serious forms).
Hypothesis
Formal idea or theory tested in a scientific study.
 

A  B C D E F G H I J K L M N O P Q R S T U V W X Y Z

I

Imperforate Anus
Absence of an external opening from the rectum/intestinal tract. Surgery is needed to allow the infant to pass feces.
Induced Abortion (Elective Termination) (Therapeutic 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. ACRONYM: Tab
Infant Death
Death of a live-born infant before 12 months of age.
Information Technology
The use of computers and telecommunication for the management of information. ACRONYM: IT
Institutional Review Board
Also called CPHS.  A committee designated to approve, monitor and review research involving humans, with the aim to protect the rights and welfare of research subjects. ACRONYM: IRB
International Classification of Diseases, 9th Edition
Numeric codes used to classify diseases and a wide variety of symptoms, abnormal findings, complaints and external causes of injury or disease. ACRONYM: ICD-9
Intestinal Atresia
Condition where abnormally formed segments in the intestine obstruct food movement during digestion. Often classified according to the part of the gut affected: from the stomach to the colon (small intestine), the colon and rectum (large intestine) or anus. See colorectal atresia and anal atresia.
Intrauterine growth restriction
Refers to the poor growth of a baby while in the womb. Specifically, it refers to a fetus whose weight is below the 10th percentile for its gestational age. ACRONYM: IUGR
 

A  B C D E F G H I J K L M N O P Q R S T U V W X Y Z

K

Kidney Defects
Absence, underdevelopment or other structural abnormality of the kidneys. Also called renal defects.
Klinefelter syndrome
Syndrome in males that is characterized by small testes, long legs, enlarged breasts, and reduced sperm production.
 

A  B C D E F G H I J K L M N O P Q R S T U V W X Y Z

L

Limb Reduction Defects
Missing or malformed arms, legs, hands, fingers, feet or toes. Different types of limb defects result from different prenatal processes, so proper classification is essential.
Live Birth
Spontaneous delivery of an infant that exhibits signs of life, including a heartbeat, spontaneous breathing, or movement of voluntary muscles. Transient cardiac contractions and fleeting respiratory efforts or gasps are not necessarily considered signs of life by all programs.
Live Registry
The Registry of open birth year data that has not undergone year end processing (YEP), linking and quality control.
Low Birth Weight
Birth weight less than 2,500 grams, regardless of gestational age. ACRONYM: LBW
 

A  B C D E F G H I J K L M N O P Q R S T U V W X Y Z

M

Malformation
A major anomaly that arises during the initial formation of a structure, i.e., during organogenesis. For most organs, this occurs during the first eight weeks after fertilization. The resulting structure may be abnormally formed, incompletely formed, or may fail to form altogether. Examples of malformations include spina bifida and hypoplastic left heart.
Malrotation of the Intestines
Unusual configuration of intestinal (bowel) loops.
Marfan syndrome
A genetic disorder of the connective tissue that can affect the skeleton, eyes, heart and blood vessels. Caused by a defect in the gene controlling the production of fibrillin. Marfan syndrome is often inherited as a simple dominant trait.
Maternal Blood Samples
Blood samples drawn from pregnant women as part of the Prenatal Screening Program.  (This test is also referred to as the MSAFP, or Maternal Serum Alpha Fetoprotein screen.) The blood is drawn between 15 and 20 weeks gestation. This is also referred to as Prenatal Blood Samples.
Maternal Serum Alpha-fetoprotein
The level of AFP, a plasma protein normally produced by the fetus, in the mother’s blood (the maternal serum AFP) provides a screening test for neural tube defects. Prenatal maternal lab tests are done at 15-20 wks gestation. ACRONYM: MSAFP
Maternal, Child & Adolescent Health
A State Division within CDPH which promotes healthy living for mothers and their families through various public health programs. ACRONYM: MCAH
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. Individual major anomalies occur in less than 1 percent of the population. Together, they are seen in approximately 3 percent of births. Examples include cleft lip and tracheo-esophageal fistula.
Memorandum of Understanding
A document describing an agreement between two or more parties. ACRONYM: MOU
Meninges
Membranes that cover the brain and spinal cord.
Mental Retardation
Abnormal brain function resulting in an IQ score of less than 70 (100 is average). ACRONYM: MR
Metabolic Disease
Genetic disease caused by absent or defective substance. This disrupts metabolism at a cellular level – often the cell cannot create, use or dispose of nutrients properly – leading to a variety of physical problems. PKU is an example where the inability to transform dietary protein leads to buildup of toxic waste and causes brain damage.
Microcephaly
A cranial vault that is smaller than normal for age. The size of the cranial vault is an indicator of the size of the underlying brain.
Microphthalmia
The congenital abnormal smallness of one or both eyes. Can occur in the presence of other ocular defects.
Microtia
A congenital deformity of the outer ear in which the outer ear is incompletely formed. It can be unilateral (one side only) or bilateral (affecting both sides). Complete absence of the outer ear is Anotia. (see Anotia).
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. Individual minor anomalies generally occur in less than 4 percent of the population. The presence of multiple minor anomalies in the same child may provide clues to the timing of a prenatal insult and may indicate the presence of an undiagnosed major anomaly, syndrome, or functional deficit.
Miscarriage
Pregnancy loss occurring before 20 weeks gestation (the first half of pregnancy). Also called spontaneous abortion.
Mosaic
In genetics, this refers to 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. Can occur in any chromosome abnormality syndrome.
Multifactorial Inheritance
Many conditions are caused by a combination of genes and other factors, such as the environment. These conditions are said to be “multifactorial”. People who have such a condition are often born into families with no other affected people. However, parents of a child with the condition have a greater chance of having another child with the condition than couples who do not have a child with the condition.
Multifactorial inheritance is actually the most common form of inheritance; most traits and characteristics are inherited in multifactorial fashion.
Mutation
Change in the DNA sequence of a gene, resulting in an altered expression of the trait that gene controls.
 

A  B C D E F G H I J K L M N O P Q R S T U V W X Y Z

N

National Birth Defects Prevention Network
CDC sponsored organization of states and institutions maintaining a birth defects registry. ACRONYM : NBDPN
Neonatal (newborn)
The first 28 days following delivery of a live-born infant.
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.
Neural Tube Defects
Abnormalities arising during early fetal development when the neural tube – the precursor of the spinal cord and brain – does not form correctly. Can cause absence of the brain (anencephaly) or spina bifida (open spine defect). ACRONYM : NTD
Newborn Screening
The examination of blood samples from a newborn infant to detect disease-related abnormalities or deficiencies in gene products. Newborn screening (NBS) programs collect dried blood spots (DBS) in every state. ACRONYM : NBS
Nitrates
Commonly occurring group of substances (found in foods, medications, drinking water and cigarette smoke) linked to cancer and other conditions.
Normal Variant
A minor anomaly that occurs in approximately 4 percent or more of the population. Examples of normal variants include webbing of the second and third toes, and a single umbilical artery in an otherwise normal infant.
 

A  B C D E F G H I J K L M N O P Q R S T U V W X Y Z

O

Obstructive genitourinary defect
Partial or complete obstruction of the flow of urine at any level. Severity of the defect depends largely upon the level of the obstruction. Urine accumulates behind the obstruction and damages the organs.
Oligohydramnios
A condition in pregnancy where there is a lack of, or decrease in, amniotic fluid surrounding the fetus.Associated with Potter sequence.
Omphalocele
Condition where the abdominal wall is incompletely formed, allowing internal organs to protrude into the umbilical cord. Surgery to replace the organs can crowd the lungs, causing breathing problems. Omphalocele is part of the category abdominal wall defects.
Online Coding System
Assigning diagnostic codes to abstracts using CBDMP’s online coding system. ACRONYM : OCS
Open Birth Year
A collection of birth data for a calendar year, in which casefinding and abstracting are ongoing. This proceeds for up to 18 months after the end of the calendar year in order to allow time to review logs for diagnoses or conditions related to birth defects for children up to 1 year of age.
Open Spine Defect
See Spina Bifida.
Oral Cleft
Opening in the lip and/or palate occurring in early fetal development. Affected children need surgery to repair the cleft lip or cleft palate. They often need long-term help such as speech therapy and specialized dental care.
 

A  B C D E F G H I J K L M N O P Q R S T U V W X Y Z

P

Patent ductus arteriosis
This defect allows blood to mix between the pulmonary artery and the aorta. Before birth an open passageway (the ductus arteriosis) exists between these two blood vessels. Normally this closes within a few hours of birth. When this doesn’t happen, some blood that should flow through the aorta and on to nourish the body returns to the lungs. ACRONYM : PDA
Periconceptual Period
A period from 1 to 3 months prior to pregnancy through the first 6 weeks of pregnancy.
Perinatal Period
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.
Phenylketonuria
An inherited disorder of metabolism that can cause mental retardation if not treated. In PKU, the body cannot process a portion of the protein called phenylalanine (Phe), which is in almost all foods. If the Phe level gets too high, the brain can become damaged. All babies born in U.S. hospitals are now routinely tested for PKU soon after birth. ACRONYM : PKU
Pierre Robin syndrome
Also called Pierre Robin Sequence.
A condition present at birth in which an infant has a very small lower jaw, a tongue that tends to fall back and downward, and a soft cleft palate.
Polydactyly
Extra digits (fingers or toes)
Polyhydraminos
The presence of excessive amniotic fluid surrounding the unborn infant.
Postnatal
After delivery
Post Term Infant
An infant born after 42 completed weeks of gestation 
Potter sequence
Refers to the typical physical appearances of a fetus or neonate due to oligohydramnios (decrease in amniotic fluid) experienced in the womb. Characterized by facial and limb deformities and pulmonary hypoplasia. 
Preconception care
Involves an assessment prior to becoming pregnant, of lifestyle, health, and fitness, by a health professional, in order to identify areas for improvement.
Pregnancy Termination
Abortion; often done when birth defects are detected with prenatal diagnosis
Premature birth
Birth of a baby before the standard period of pregnancy is completed. Prematurity is considered to occur when the baby is born sooner than 37 weeks after the beginning of the last menstrual period (LMP). Also known as Preterm birth. 
Prenatal
Before delivery 
Prenatal Blood Samples
Blood samples drawn from pregnant women as part of the Prenatal Screening Program.  This is also referred to as Maternal Blood Samples. 
Prenatal Diagnosis
Tests done during pregnancy to detect abnormalities. Some tests are for screening, determining whether a pregnancy is at higher or lower risk, such as the expanded AFP blood test. Other tests – like amniocentesis – are diagnostic, telling for certain whether the fetus is affected. 
Preterm Infant
An infant born before 37 completed weeks of gestation. 
Principal Investigator
Lead scientist for a project or research study. ACRONYM : PI 
Pulmonary artery/valve defect
Type of heart defect involving the outflow tract leading from the heart to the lungs, with narrowing/closure of the blood vessel (pulmonary artery) or its connection to the heart (pulmonic valve). 
Pulmonary hypoplasia
Incomplete or defective development of the lungs.
Pyloric Stenosis
Overgrowth of the muscular connection between the stomach and intestines, blocking food passage and causing projectile vomiting a few weeks after birth. More common in boys.
 
 
A  B C D E F G H I J K L M N O P Q R S T U V W X Y Z

R

Radial Defect
Underdeveloped or malformed radius, the larger of the 2 bones in the lower arm. This is often accompanied by defects in the surrounding tissue, especially the thumb, index and middle fingers.
Recessive Inheritance
Both parents need to have a faulty gene in order for defects to be passed on to a child. Tay-Sachs disease and cystic fibrosis are recessively inherited birth defects.
Regional Centers
Nonprofit private corporations that contract with the Department of Developmental Services (DDS) to provide or coordinate services and support for individuals with developmental disabilities.
Registry
The set of databases used to store data about stillbirths, terminated pregnancies and birth defects in California.
Relative Risk
Comparison of the risk between exposed and unexposed persons. A relative risk of 1 means there is no difference. A relative risk of 10 means that outcome is 10 times more common among exposed people. A relative risk of 1/10 means the outcome is 10 times more frequent in unexposed people (the exposure is a protective factor.)
Renal Agenesis / Dysgenesis
Condition where kidneys are absent (agenesis) or severely underdeveloped or malformed (dysgenesis). If both kidneys are affected, a fetus does not urinate prenatally and there is little or no amniotic fluid (which comes from fetal urine). This in turn prevents the fetal lungs from growing and expanding, leading to breathing problems and possibly death soon after birth.
Renal Defects
See Kidney Defects.
Risk Factor
Characteristic – such as heavy drinking – associated with a higher risk for birth defects. Usually it is not known if the characteristic is directly linked to the birth defect (a cause-and-effect relationship) or related to some other factor that’s the actual cause.
 

A  B C D E F G H I J K L M N O P Q R S T U V W X Y Z

S

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. Examples include Robin sequence (micrognathia, posterior displacement of the tongue, cleft soft palate) and the oligohydramnios, or Potter, sequence (pulmonary hypoplasia, flattened faces, abnormal positioning of the limbs).
Sex Chromosomes
Either of a pair of chromosomes, usually designated X or Y that combine to determine the sex and sex-linked characteristics of an individual, with XX resulting in a female and XY in a male.
Sickle Cell Disease
A group of inherited red blood cell disorders. In sickle cell disease, the red blood cells become hard and sticky and look like a C-shaped farm tool called a “sickle”. The sickle cells die early, which causes a constant shortage of red blood cells. Also, when they travel through the small blood vessels, they get stuck and clog the blood flow.
Single Ventricle
Major heart defect where the lower pumping chamber does not develop into 2 chambers (ventricles). Blood coming from the lungs carrying oxygen for the body is mixed with oxygen depleted blood returning from the body.
Small Area Study
Systematic evaluation of birth defects occurrence in a small population such as a town, community or census tract.
Spina Bifida
Structural birth defect where the spine and spinal cord don’t develop correctly. Depending on the size and location of the defect, it may cause paralysis or inability to control muscles in the legs or arms – affected children often use wheelchairs, walkers or braces.
Spontaneous Abortion (Miscarriage)
Spontaneous delivery of a fetus at less than 20 weeks gestation. ACRONYM : SAb
Stenosis
Narrowing
Stillbirth (Fetal Death)
Infant or fetus at 20 weeks or greater gestation that does not exhibit signs of life. Transient cardiac contractions and fleeting respiratory efforts or gasps are not necessarily considered signs of life by all programs. ACRONYM : SB
Structural Birth Defects
Problems in prenatal development affecting the body structure wither external (for example, cleft lip or missing limbs) or internal (such as heart defects, kidney defects). Also called malformations.
Surveillance
The process of monitoring or checking for signs or symptoms of a disease.
Syndrome
A pattern of anomalies that form a specific diagnosis for which the natural history and recurrence risk are usually known. Use of the term ‘syndrome’ implies that the anomalies have a common specific etiology. Examples include Beckwith-Weidemann syndrome and Rubinstein-Taybi syndrome.
 

A  B C D E F G H I J K L M N O P Q R S T U V W X Y Z

T

Tay-Sachs disease
A genetic disorder which is inherited in an autosomal recessive pattern, and is lethal in early childhood. The disease occurs when harmful quantities of a fatty acid derivative accumulate in the nerve cells of the brain. ACRONYM : TSD
Term Infant
An infant born after 37 completed weeks and before 42 completed weeks of gestation.
Teratogen
An exposure that interferes with normal fetal development, causing a birth defect. Known teratogens include certain illnesses in the mother (German measles, diabetes), medications (thalidomide, Dilantin) and other exposures (excessive alcohol).
Tetralogy of Fallot
Major defect of the heart’s chambers and blood vessels leading to and from the heart. The 4 components are: underdeveloped right heart, hole between the lower heart chambers, overriding aorta and underdeveloped pulmonary artery. ACRONYM : TOF
Thymus
Gland in the neck that produces immune system cells.
Tracheo-esophageal Fistula
Connection between the breathing tube (trachea) and swallowing tube (esophagus) causing life-threatening symptoms soon after birth. Surgery is needed to properly attach the trachea to the lungs and the esophagus to the stomach.
Transforming growth factor alpha
One of several proteins secreted by transformed cells that can stimulate the growth of normal cells. Transforming growth factor alpha binds the epidermal growth factor receptor and stimulated the growth of endothelial cells (cells that line the inside of blood vessels). ACRONYM: TGF-A
Translocation
The rearrangement of genetic material within the same chromosome or the transfer of a segment of one chromosome to another one. People with balanced translocations do not always manifest genetic syndromes, but may be carriers of genetic syndromes and can have children with unbalanced translocations. Can occur with any chromosomal anomaly syndrome.
Transposition of the Great Vessels/Arteries
Major heart defect where the main blood vessels leading from heart are reversed, resulting in improper circulation of oxygenated and oxygen depleted blood.
ACRONYM : dTGA
Tricuspid atresia
Major heart defect with absence of the tricuspid valve. This means that no blood can flow from the right atrium to the right ventricle. As a result, the right ventricle is small and not fully developed.
Triphalangeal Thumb
A thumb with 3 bones/2 joints, resembling a finger.
Trisomy
3 copies of the chromosome instead of the usual pair, generally resulting in structural birth defects and mental retardation. Humans normally have 23 pairs of chromosomes, numbered 1-22 plus the sex-determining pair. The most common trisomy is an extra 21 chromosome (trisomy 21 or Down Syndrome); trisomy 13 (Patau Syndrome) and 18 (Edwards syndrome) are also relatively common.
Truncus Arteriosus
A conotruncal heart defect where a single blood vessel replaces the pulmonary artery (leading to the lungs) and the aorta (leading to the rest of the body); this results in mixing of oxygenated and oxygen-depleted blood.
Turner syndrome
A chromosome disorder in females that is characterized by the absence of all or part of a second sex chromosome in some or all cells.
 

A  B C D E F G H I J K L M N O P Q R S T U V W X Y Z

U

Ultrasound
Prenatal test using sound waves to create a picture of the developing fetus. Ultrasound can measure growth and examine body structures such as the heart and spine.
Unilateral
Occurring in 1 of paired organs/body structures. For example, a unilateral kidney defect affects a single kidney.
Urethra
The tube leading from the bladder to outside the body.
Urinary Defects
Defects of the structures for collecting and excreting urine. This includes the bladder, the tubes connecting the kidneys to the bladder (ureters) and the tube leading from the bladder to outside the body (the urethra).
Urinary Tract Obstruction
Defect in the tubes leading to and from the bladder, preventing normal urination. Backed-up urine damages the kidneys – children often need corrective surgery and possible dialysis (mechanized help with filtering waste from the blood). In severe cases, the absence of amniotic fluid (which comes from fetal urine) prevents the fetal lungs from growing and expanding; once born, these babies cannot breathe and soon die. 
 

A  B C D E F G H I J K L M N O P Q R S T U V W X Y Z

V

VATER Association
Combinations of defects occurring more frequently then expected. The VATER association is named for Vertebral/rib defects, Anal atresia, Tracheo-Esophageal fistula, Radial and Renal defects; adding Cardiac and Limb defects forms the VACTERL Association.
Ventral Wall Defects
See Abdominal Wall Defects (AWD). ACRONYM : VWD
Ventricle
One of the two lower chambers of the heart (plural ventricles). The right ventricle sends blood to the lungs, and the left ventricle passes oxygen-rich blood to the rest of the body.
Ventricular Septal Defect
Heart Defect where a hole between the two bottom pumping heart chambers (ventricles) allows oxygenated and oxygen-depleted blood to mix. ACRONYM : VSD
Vertebral Defects
Abnormalities of the spinal bones.
Very Low Birth Weight
Birth weight less than 1,500 grams, regardless of gestational age. ACRONYM : VLBW
Vital Statistics
The California State Vital Records compiles Vital Statistics data from information reported on birth, death, and fetal death certificates, including detailed demographic information related to the infant, mother, and father (for births and fetal deaths) or decedent (for deaths), as well as medical data related to the vital event. ACRONYM : VS
 

A  B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Y

Year End Processing
When a birth year closes, no additional data is collected for that birth year, and the data is then processed to finalize an annual dataset that can be used for scientific analysis. ACRONYM : YEP
 
 
 
Last modified on: 4/8/2010 2:16 PM