Baby birth defect/anomaly/ congenital malformation Congenital anomalies Definitions: S/T Perinatal Data Collections: NSW: Congenital conditions include conditions due to: Structural malformations - examples are: spina bifida, cleft lip, exomphalos, dislocated hip, syndromes; including at least one structural malformation. Chromosome changes - all conditions where there is change in the number or structure of the individual’s chromosomes. Certain medical conditions - four medical conditions: cystic fibrosis, phenylketonuria, congenital hypothyroidism and thalassaemia major. VIC: Congenital anomalies are structural or anatomical abnormalities that are present at birth, in either a live born or stillborn baby. They may be detected during pregnancy, at the birth or days after. They may be multiple or isolated. SA: A congenital anomaly is defined as any abnormality of prenatal origin. Thus, structural (e.g. Spina Bifida), genetic, chromosomal (e.g. Down's Syndrome) and biochemical (e.g. phenylketonuria) abnormalities are included. Excluded are most minor malformations unless they are disfiguring or require treatment. WA: The Register defines a congenital anomaly as any defect probably of developmental origin in either liveborn or stillborn babies. The following should be included in the register: structural, (e.g. spina bifida), genetic and chromosomal (e.g. Down's syndrome) and biochemical (e.g. Glucose 6-phosphate dehydronase deficiency). Most minor malformations are excluded unless they are disfiguring or require treatment. TAS: Any congenital abnormality that is present at the birth and diagnosed before separation from care. ANZNN: Structural abnormalities (including deformations) that are present at birth and diagnosed prior to separation from care (discharge to home) (Yes/No). SA RCA: any abnormality, structural or functional, identified up to five years of age, provided that the condition had its origin before birth. Descriptions: QLD: Congenital anomalies are abnormalities (including deformities) that were present at birth and detected prior to separation from care. NSW PMC: Was a major fetal abnormality present? QLD PMC: External abnormalities noted on examination including birth trauma.
All S/T exc NT (paper and online) provide a free text field to specify congenital anomalies. NT collect whether the birth defect is obvious, not obvious or under investigation (at birth) and on discharge (paper only). QLD, VIC and TAS collect the system that the congenital anomaly affects i.e.: Cardio-vascular system, central nervous system etc. QLD: present at birth and detected prior to separation from care. VIC and TAS state that it would be diagnosed up to a few days after the birth or before discharge from care. VIC and TAS collect name of the paediatrician consulting/treating/reporting a congenital anomaly. ANZNN collects the ICD-10-AM code. Structural condition Functional condition Chromosomal condition Metabolic/Biochemical/ Genetic conditions
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