Wednesday 02 November 2011
The National Patient Safety Agency (NPSA) has issued guidance to NHS organisations in England and Wales*, aimed at ensuring medical staff working with pregnant women take action on any mention of a family history of
Medium chain acyl-CoA dehydrogenase deficiency (MCADD)**.
MCADD disease affects about one in 10,000 babies born in the UK, and, if both parents are MCADD carriers, there is a one-in-four chance of their child being born with MCADD. In the first 2-3 days of life, when regular feeding is not fully established, new born babies are heavily dependent on fat metabolism for their energy needs and those with MCADD are especially vulnerable to early neonatal death.
Over a five year period, the National Reporting and Learning System (NRLS) received two reports of deaths of newborn babies from MCADD who were born to families with a history of the disease. It appeared that although the mothers had mentioned the family history to healthcare staff when they were pregnant, the staff were not aware of the significance of MCADD, and therefore did not arrange any specialist referrals, special feeding regimen or observation. Six additional ‘no harm’ incidents reported to the NRLS indicated similar omissions, fortunately without adverse effects.
This Rapid Response Report (RRR) asks GPs and NHS organisations providing obstetric, midwifery, neonatal or paediatric services and specialist centres for inherited metabolic disease to ensure that:
• Local organisations ensure midwives, general practitioners and medical staff working with pregnant women are reminded of the importance of taking an accurate family history at booking and act on any mention of a family history of MCADD by a pregnant woman.***
• Obstetric and midwife-led services review their patient documentation to ensure there are appropriate triggers to ask new patients about family history of inherited diseases.
• Obstetric, midwife-led, neonatal and paediatric services ensure all relevant local and /or national guidance on MCADD is available to staff.
• Specialist services for inherited metabolic disorders (adult or paediatric) ensure when a baby, child, or adult is diagnosed with MCADD there are reliable systems for routinely informing the family that any future babies will need a special feeding regimen and observation in the first hours and days of life, so that family members are equipped to self-advocate. If informed about any at risk pregnancies, a notification must be sent to the relevant obstetric and neonatal units so the appropriate guidance is followed after delivery.
Suzette Woodward, Director of Patient Safety, National Patient Safety Agency, said:
“Newborn babies with MCADD are especially vulnerable in the first few days of life. Babies born to families with a history of the disease need a special feeding regimen and observation from the moment of birth.
“NHS organisations should ensure that staff working with pregnant women are reminded of the importance of taking an accurate family history and ensuring action is taken on any mention of a family history of MCADD. Adverse outcomes can be prevented by identification and simple dietary management.”
For a copy of this latest Rapid Response Report, supporting information and a clinical briefing sheet, visit http://www.nrls.npsa.nhs.uk/resources/type/alerts.
* In Wales, routine newborn screening for MCADD will be introduced in 2012.
** Medium chain acyl-CoA dehydrogenase deficiency (MCADD) is a rare inherited disorder where the body cannot metabolise fat properly. Individuals with undiagnosed MCADD commonly present with an episode of encephalopathy (drowsiness, seizures etc) usually accompanied by hypoglycaemia, that can result in coma or sudden death. Such catastrophes can be prevented by simple treatment (primarily a regular intake of glucose during illnesses), allowing affected individuals to live a normal, healthy life.
*** In line with UKNSPC and BIMDG guidance.
Notes to editors
1. Media enquiries to the NPSA Press Office:
020 7927 9500 / firstname.lastname@example.org
2. Following the publication of the Arms Length Body Review on 26 July 2010, the NPSA has stressed the importance for all NHS organisations across England and Wales to continue reporting patient safety incidents through the National Reporting and Learning System.
3. The national function for patient safety will continue within the NHS Commissioning Board and tools, guidance and support will be available to lead improvements in patient safety. A key role of the NHS Commissioning Board will be oversight of the National Reporting and Learning System which will continue to capture, analyse and feedback patient safety incidents to the NHS.