Nine days ago a GP-obstetrician, Richard Barrett, working in a rural area about two hours drive from Sydney, delivered a female infant, Rachel Croft, at the local hospital. She was discharged home on day 6 in the care of her mother, Angela Croft, and had been breastfeeding well and was beginning to establish a regular sleep pattern.
Today Rachel was found to be positive on the routine newborn screening (Guthrie) test for PKU taken on day 3. The blood phenylalanine level is 700 micromol/L (normal <200).
See the Biochemistry report - Newborn screening program on the next screen.
Pregnancy history
- planned pregnancy
- no alcohol consumption during pregnancy
- nonsmoker
- no prescription medications during the pregnancy, apart from vitamin supplements including folate.
Perinatal history
- normal birth at 39 weeks gestation
- good condition at birth; Apgar scores of 9 and 10 at one and five minutes respectively
- birth weight 3.30kg (50th percentile)
- length 51cm (50th percentile)
- head circumference 34.5cm (just > 50th percentile)
- mild physiological jaundice, first evident on day 3, no specific therapy; all but cleared by the day of discharge.
Feeding history
- Breastfeeding was established on the first day of life.
- Angela had breastfed her first 2 children. She seemed confident and had no problems in establishing breastfeeding with Rachel.
Family history
- Two other children, both boys, aged 6 (Steven) and 4 years (Craig). Both boys have been healthy and have normal intellectual development, although Craig had several episodes of mild asthma last winter.
- Angela and her husband Rob live in their own home in the town.
- Rob works full time as a motor mechanic.
- Up until the birth of Rachel, Angela had worked part-time in the local library.
- Rob is also a nonsmoker.
- Both Angela and Rob enjoy good health.
- No particular financial difficulties.