Survey of Maternal Phenylketonuria (PKU) as a Teratogen
Svitlana Kalynka, M.D. 4, Svitlana Onishchenko, M.D. 5
1 Crimea Autonomous Republic OMNI-Net and Simferopol Medical Genetics Center
2 Khmelnytsky OMNI-Net and City Perinatal Center
3 Rivne OMNI-Net and Regional Diagnostic Center Medical Genetics Center
4 Volyn OMNI-Net and Regional Children's Clinical Hospital
5 Kherson OMNI-Net and Children's Regional Hospital
Background: PKU is a relatively common disorder and is detected by neonatal screening in nearly one of every 6000 births in Ukraine. It is undisputed that poorly controlled PKU in women is a cause of fetal mal-development, particularly of the nervous system.
Method: We initiated an inquiry among health professionals and families caring for patients with PKU to learn about female patients, their reproductive history and pregnancy outcomes.
Results: Preliminary summary based on information about 118 female PKU patients from 5 regions in Ukraine shows that 70% are intellectually deficient and that 5 delivered children diagnosed as having PKU embryopathy.
Conclusion: Further pursuit of this inquiry is warranted and already suggests that current PKU screening programs and early treatment regimes should be expanded by a national registry of female patients to better administer family planning services, provide anti-conceptive or other alternatives as well as to promote strict PKU control before conception and during gestation.
The poster was presented at the 1-st Central and Eastern European Summit
on Preconception Health and Prevention of Birth Defects
(Budapest, August 27-30, 2008)
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