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Updated: Jul 29, 2026
FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
Genetic screening of newborn in Australia: results for 1979
Insights
Newborn screening in Australia has identified over 200 cases of phenylketonuria (PKU) and rare malignant hyperphenylalaninaemia (MHPA) since the 1960s. Congenital hypothyroidism screening also detected 28 new cases in 1979.
Area of Science:
- Medical screening
- Public health
- Genetics
Background:
- Newborn screening programs are crucial for early detection of genetic disorders.
- Phenylketonuria (PKU) and malignant hyperphenylalaninaemia (MHPA) are treatable metabolic disorders.
- Congenital hypothyroidism (CH) requires timely intervention to prevent developmental issues.
Purpose of the Study:
- To report the incidence of PKU and MHPA detected through newborn screening in Australia.
- To present data on congenital hypothyroidism cases identified in 1979.
Main Methods:
- Guthrie bacterial inhibition assay used for PKU and MHPA screening.
- Data collected from Australian newborn screening programs over several decades.
- Congenital hypothyroidism screening conducted in four centers.
Main Results:
- Over 2.5 million infants screened for PKU and MHPA.
- Incidence of PKU: 1/11,516; MHPA: 1/511,300.
- In 1979, 18 PKU, 1 MHPA, and 28 CH cases were detected.
Conclusions:
- Newborn screening effectively identifies PKU and MHPA in Australia.
- The incidence rates highlight the prevalence of these conditions.
- Continued newborn screening is vital for early diagnosis and management of metabolic and endocrine disorders.
Abstract:
Since screening of newborn infants for phenylketonuria (PKU) by Guthrie bacterial inhibition assay was established in the 1960s, 2 556 498 infants have been tested in Australia. Two hundred and twenty-two cases of PKU, and five cases of the variant forms of malignant hyperphenylalaninaemia (MHPA) have been found over this period, an incidence of 1/11 516 for PKU, and 1/511 300 for MHPA. In 1979, 18 infants with PKU and one with MHPA were detected. Screening for congenital hypothyroidism was carried out in four centres, and 28 new cases were detected in 1979 (an incidence of 1/5746).
