Maternal phenylketonuria: the French survey

European Journal of Pediatrics
François FeilletL de Parscau

Abstract

We report the French experience regarding pregnancies in maternal phenylketonuria (PKU). In 2001, a questionnaire was sent to each referring PKU specialist in the 20 centres of each region of France, collecting reports on 135 pregnancies in 79 women born between 1958 and 1980. The majority of the 135 pregnancies occurred after 1990. A total of 42 women were informed of the risks of untreated pregnancy, while 26 were not informed (no data for 11). A strict diet was achieved in 83% of informed and in 16% of uninformed mothers prior to conception. Healthy offspring were observed in 43% of the 135 pregnancies, spontaneous abortions in 10.4%, elective abortions in 4.4%, therapeutic abortions in 12.6%, and embryopathies (EP) in 21.5%. In 8.1% of cases, the outcomes (in earliest pregnancies) are unknown. The proportion of healthy children increased over time and reached 80% of the pregnancies of informed females. There were seven heart defects, all in cases of EP, but although microcephaly and intrauterine growth retardation (IUGR) were almost constant in EP, we also found nine healthy children with IUGR. A continuum between EP and healthy children is suggested. The anthropometric data of the mothers showed that their body mass index ...Continue Reading

Citations

Sep 21, 2013·Molecular Genetics and Metabolism·A WiedemannF Feillet
May 3, 2014·Journal of Inherited Metabolic Disease·François FeilletFritz Friedrich Trefz
Jun 7, 2012·Journal of Inherited Metabolic Disease·Raphaël TeissierUNKNOWN AFDPHE (Association Française pour le Dépistage et la Prévention des Handicaps de l’Enfant)
Jun 28, 2008·Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie·R Teissier, L de Parscau
May 12, 2005·Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie·V AbadieUNKNOWN Association française pour le dépistage et la prévention des handicaps de l'enfant (AFDPHE)
Aug 4, 2010·Molecular Genetics and Metabolism·G M EnnsE Jurecki
Aug 22, 2020·Médecine sciences : M/S·Arnaud WiedemannFeillet François
May 22, 2007·The Journal of Nutrition·Hélène Ogier de BaulnyLoïc de Parscau
Oct 14, 2017·Orphanet Journal of Rare Diseases·A M J van WegbergF J van Spronsen

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