Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Maternal phenylketonuria: a continuing problem.

D R Mowat1, M C Hayden, S M Thompson

  • 1Department of Clinical Genetics, New Children's Hospital, Sydney, NSW.

The Medical Journal of Australia
|July 23, 1999
PubMed
Summary
This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Practical implementation of robust MR-thermometry during clinical MR-guided microwave ablations in the liver at 1.5 T.

Physica medica : PM : an international journal devoted to the applications of physics to medicine and biology : official journal of the Italian Association of Biomedical Physics (AIFB)·2019
Same author

Brexanolone for the treatment of patients with postpartum depression.

Drugs of today (Barcelona, Spain : 1998)·2019
Same author

Recovery of Four Novel Potato spindle tuber viroid Sequence Variants from Russian Seed Potatoes.

Plant disease·2019
Same author

The involvement of older inpatients in medical student education.

European geriatric medicine·2018
Same author

The prevalence of proximal hamstring pathology on MRI in the asymptomatic population.

Knee surgery, sports traumatology, arthroscopy : official journal of the ESSKA·2016
Same author

Green and brown bridges between weeds and crops reveal novel Diaporthe species in Australia.

Persoonia·2016
Same journal

Still Treating Yesterday's Risk? Reconsidering Antiviral Use for Mild-to-Moderate COVID-19 Cases in a Broadly Immune Population.

The Medical journal of Australia·2026
Same journal

Striving for Racial Equity in Oral Cancer Research: A Case Study.

The Medical journal of Australia·2026
Same journal

Progressing Cross-Sector Collaboration for People With Eating Disorders and Higher Weight: Priority Actions From an Expert Roundtable Using a Modified Nominal Group Technique.

The Medical journal of Australia·2026
Same journal

Self-Poisoning With Prazosin and Its Off-Label Use in Australia, 2014-2024: Analysis of NSW Poisons Information Centre Data.

The Medical journal of Australia·2026
Same journal

Drivers of Vaccine Uptake for Aboriginal and Torres Strait Islander Children to Inform Tailored Strategies: A Qualitative Study Exploring Health Service Provider Perspective.

The Medical journal of Australia·2026
Same journal

Four Urgent Actions for the Rights to Culturally Safe Breastfeeding for Aboriginal and Torres Strait Islander Mothers and Babies to Breastfeed in Neonatal Intensive Care Environments.

The Medical journal of Australia·2026
See all related articles

Many women with phenylketonuria (PKU) are not adequately followed up, increasing the risk of maternal PKU syndrome in their children. Improved follow-up and health professional education are urgently needed.

Area of Science:

  • Medical Genetics
  • Public Health
  • Reproductive Health

Background:

  • Maternal phenylketonuria (PKU) syndrome can cause severe intellectual disability, microcephaly, and congenital malformations in children.
  • Effective management requires a phenylalanine-restricted diet for women with PKU before and during pregnancy.
  • Estimating the at-risk population is crucial for targeted public health interventions.

Purpose of the Study:

  • To estimate the number of women of childbearing age in New South Wales (NSW) at risk of transmitting maternal PKU syndrome.
  • To assess the adequacy of follow-up for women diagnosed with PKU in NSW.

Main Methods:

  • Comparison of observed women with PKU (aged 15-44) on the NSW PKU database against expected numbers derived from population data.
  • Analysis of women's age, diagnostic history, clinical contact frequency, and pregnancy outcomes.

Related Experiment Videos

  • Data collected for NSW in 1996, with pregnancy outcomes from January 1994 to July 1996.

    • Main Results:

    • 110 women with PKU were identified, compared to an expected 145, indicating underrepresentation, particularly in older age groups.
    • Significant numbers of women with PKU lacked regular follow-up or were diagnosed late.
    • Managed pregnancies had better outcomes (19 unaffected vs. 5 affected), while all 46 unmanaged pregnancies resulted in affected offspring.

    Conclusions:

    • A critical need exists for enhanced follow-up of women with PKU.
    • Education for health professionals on recognizing maternal PKU syndrome, its risks, and treatment benefits is essential.
    • Proactive management can significantly reduce the incidence of maternal PKU syndrome.