Women who are trying to get pregnant and who have any form of phenylketonuria are encouraged to seek counseling about their risks for adverse fetal effects. The American Academy of Pediatrics suggests that counseling take place before parents begin the process of trying to conceive.
Phenylketonuria, or PKU, is a metabolism disorder that mothers can pass on to their children. If untreated, PKU can cause intellectual and developmental disabilities. A person with PKU cannot process a protein called phenylalanine, or Phe, found in most foods. When Phe levels get too concentrated, it can damage the brain, according to the National Institutes of Health.
Babies born in hospitals in the United States are regularly tested for PKU immediately after they are born in order to diagnose them and begin treatment.
The AAP warns that if pregnant women with PKU do not keep a close eye on their Phe levels they may be putting their unborn children at significant risk. Elevated Phe levels during pregnancy can lead to significant development delays, birth defects, growth retardation and microcephaly.
Women of childbearing age with any form of PKU, even mild cases like mild hyperphenylalaninemia, should be counseled about their risks for adverse fetal effects. The AAP’s research shows that best results come when hopeful mothers maintain strict control of maternal phenylalanine concentration before conception and all the way through the pregnancy.
Women with hyperphenylalaninemia who cannot or will not maintain optimum blood Phe concentrations for their pregnancy should be carefully counseled not only about the risks of mental retardation in their children, but also concerning what can happen if the Phe levels get unbalanced, even occasionally, during the pregnancy. Structural defects like congenital heart disease can develop if Phe levels are out of control early in the pregnancy. The AAP strongly suggests that women access high-quality reproductive counseling.
The pediatric academy also encourages genetic counseling for women with PKU before and after conception. The group suggests pregnant women with hyperphenylalaninemia get regular, detailed ultrasonographic exams and fetal echocardiograms to look out for fetal abnormalities. Pregnant women with PKU can be educated about critical times in the pregnancy for organogenesis so that Phe concentrations can be carefully monitored. There are medical centers with skilled clinicians who specialize in helping women with PKU.
Finally, the AAP recommends that mothers whose newborns have features suggestive of maternal PKU, like microcephaly or congenital heart disease, get blood tested for hyperphenylalaninemia. Even if an infant has an initial elevation of Phe concentration that is then resolved, mothers should be tested.
The group encourages families of people with PKU to work with their pediatrician to ensure access to social services and the right foods.
Doctors and health care professionals owe a standard of care to counsel expectant mothers about PKU and the risks of birth defects before and during a pregnancy.
Paul Greenberg is a Chicago birth injury lawyer and Chicago birth injury attorney with Briskman Briskman & Greenberg. To learn more call 1.877.595.4878 or visit http://www.briskmanandbriskman.com/.
