Related Experiment Video

Updated: Jul 30, 2026

FISH for Pre-implantation Genetic Diagnosis
07:34

FISH for Pre-implantation Genetic Diagnosis

Published on: February 23, 2011

Genetic screening of newborn in Australia: results for 1980

D Pitt, J Connelly, I Francis

    The Medical Journal of Australia
    |February 6, 1982
    PubMed

    Insights

    Newborn screening in Australia has detected phenylketonuria (PKU) in 1 in 11,582 infants and malignant hyperphenylalaninaemia (MHPA) in 1 in 463,298. Congenital hypothyroidism screening also identified 40 new cases in 1980.

    Area of Science:

    • Medical Screening
    • Pediatrics
    • 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 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 1980.
    • To evaluate the effectiveness of established newborn screening protocols.

    Main Methods:

    • Guthrie bacterial inhibition assay used for PKU and MHPA screening.
    • Data collected from nationwide infant screening programs in Australia.
    • Analysis of detection rates for specific genetic conditions.

    Main Results:

    • Over 2.7 million infants screened for PKU since the 1960s.
    • Detected 240 cases of PKU (1:11,582) and 6 cases of MHPA (1:463,298).
    • Identified 40 new cases of congenital hypothyroidism in 1980.

    Conclusions:

    • Newborn screening effectively identifies PKU and MHPA in the Australian population.
    • Continued surveillance and screening are vital for managing congenital disorders.
    • The incidence rates provide valuable epidemiological data for public health planning.

    More Related Videos

    Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy09:03

    Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

    Published on: August 25, 2019

    Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform09:30

    Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

    Published on: August 17, 2022

    Related Concept Videos

    Karyotyping01:17

    Karyotyping

    Describing the number and physical features of chromosomes can reveal abnormalities that underlie genetic diseases. This description is facilitated by special staining techniques that produce a particular banding pattern on each chromosome. State-of-the-art techniques make this approach even more powerful, enabling the detection of individual genes that cause disease.A Simple Chromosome Staining Technique Provides Valuable Scientific InsightSome genetic diseases can be detected by looking at...
    Genetic Screens02:46

    Genetic Screens

    Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
    Forward genetic screens
    Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which result in visible changes...