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Maternal phenylketonuria in pregnancy

Rochdale Infirmary, Whitehall Street, Rochdale, OL12 0NB, UK. email: ukrishnamoorthy{at}hotmail.com (corresponding author)

Malcolm Dickson, MRCOG, Consultant Obstetrician and Gynaecologist

Rochdale Infirmary, Rochdale, UK.

The treatment of phenylketonuria, an inherited metabolic disorder, is one of the great success stories of the past 40 years. Prior to 1963, virtually all women with the disease who were of childbearing age suffered brain damage and bore few, if any, children. The success of newborn screening has resulted in a large number of women with phenylketonuria worldwide who are now of childbearing age. The offspring of women with phenylketonuria who remain untreated during pregnancy face a poor outcome. Optimising the care of these women prior to conception and throughout the pregnancy is therefore imperative to prevent significant fetal damage and is essential if the benefits to one generation attained by the universal screening programme are not to be lost to the next generation.

Keywords Keywords / maternal phenylketonuria / antenatal screening / neonatal screening