Who’s in the Registry?
Babies born with birth defects listed in codes 740-759 of the International Classification of Diseases (ICD) are generally included in the registry if their mothers are residents of one of the following counties: Fresno, Kern, Kings, Los Angeles, Madera, Merced, San Francisco, San Joaquin, Santa Clara, Stanislaus or Tulare.
Codes 740-759 include:
- Structural birth defects such as missing limbs and malformed organs
- Chromosome abnormalities like Down syndrome
- Birth defects patterns such as fetal alcohol syndrome.
The registry does not include infants with:
- Metabolic and/or inherited diseases such as cystic fibrosis and sickle cell anemia
- Functional problems without obvious structural elements like mental retardation and deafness
- Poor pregnancy outcomes such as low birth weight and prematurity.
What Information is Included?
The following information is collected from a baby’s hospital records and entered into the registry data base:
- Facility name – hospital or genetic center where the baby was treated
- Date first seen – admission date to that facility
- Chart number – hospital’s medical record number
- Birth weight
- Estimated gestational age – age at birth based on date of conception
- Date and hour of birth
- Sex: male, female, ambiguous, unknown
- Facility/county of birth – if a home birth, this would be noted
- Other facilities where data is collected on this child – other hospitals or genetic centers where the baby was seen/treated up to age 1
- Father’s name
- Mother’s name
- Child’s name, AKA (also known as) – all names by which the baby is known
- Birth address – mother’s address at time of birth
- Other addresses – other residences noted in hospital records
- Birth status – live birth, still birth (more than 19 weeks after conception), miscarriage (less than 20 weeks after conception), pregnancy terminated
- Date expired – date of death
- Facility/county of death
- Autopsy – was one performed?
- Cytogenetics – results of the test to determine a chromosomal abnormality, such as Down syndrome
- Plurality – single or twin, triplet or other multiple birth
- If twin: monozygotic/dizygotic – identical or fraternal
- Confirmation – physical examination or blood tests
- Condition of co-twin, stillborn?
- Diagnoses: for each diagnosis, the following information is recorded:
- Confirmation date and type – the test or procedure done to confirm the diagnosis
- Subspecialist – the training level of the clinician making the diagnosis, e.g. intern, pediatrician, cardiologist
- Precision – qualifying information that conveys certainty of diagnosis, e.g. possible, probable, appears
- Nonreportable diagnoses – diagnoses which are not included in the registry but are noted if the baby also has a birth defect that is included in the registry
- Diagnostic tests and procedures: name and results of test to confirm a diagnosis
- Mother’s exposures: alcohol, illicit drugs, tobacco, seizures, medications, diabetes, other illnesses
- Father’s use of illicit drugs/alcohol
- Family history of birth defect
- Consanguinity – was there a blood relationship between the parents, e.g. first cousins
- Father: race/ethnicity, Spanish origin, current occupation/industry, date of birth, age
- Mother: race/ethnicity, Spanish origin, current occupation/industry, gravida (total number of pregnancies), para (total number of deliveries, live or stillborn), last menstrual period, estimated date of confinement (due date), month prenatal care began
- Fetal age by sonography – date of first ultrasound and age of fetus by weeks
- Live births: concerning other children the mother has borne, how many are now living or dead?
- Terminations: concerning other pregnancies, were any terminated before 20 weeks, 20 weeks and after and/or of unknown gestation