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Impact of pregnancy planning and preconceptual dietary training on metabolic control and offspring's outcome in phenylketonuria
Author(s) -
GrohmannHeld Karina,
Burgard Peter,
Baerwald Christoph G. O.,
Beblo Skadi,
Dahl Stephan,
Das Anibh,
Dokoupil Katharina,
Fleissner Sandra,
Freisinger Peter,
HeddrichEllerbrok Margret,
Jung Alexandra,
Korpel Vanessa,
Krämer Johannes,
Lier Dinah,
Maier Esther M.,
Meyer Uta,
Mühlhausen Chris,
Newger Martha,
Och Ulrike,
Plöckinger Ursula,
RosenbaumFabian Stefanie,
Rutsch Frank,
Santer René,
Schick Petra,
Schwarz Martin,
Spiekerkötter Ute,
Strittmatter Ursula,
Thiele Alena G.,
Ziagaki Athanasia,
Mütze Ulrike,
Gleich Florian,
Garbade Sven F.,
Kölker Stefan
Publication year - 2022
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1002/jimd.12544
Subject(s) - offspring , pregnancy , medicine , metabolic disease , metabolic control analysis , reproductive medicine , outcome (game theory) , pediatrics , physiology , endocrinology , biology , genetics , diabetes mellitus , mathematics , mathematical economics
To prevent maternal phenylketonuria (PKU) syndrome low phenylalanine concentrations (target range, 120–360 μmol/L) during pregnancy are recommended for women with PKU. We evaluated the feasibility and effectiveness of current recommendations and identified factors influencing maternal metabolic control and children's outcome. Retrospective study of first successfully completed pregnancies of 85 women with PKU from 12 German centers using historical data and interviews with the women. Children's outcome was evaluated by standardized IQ tests and parental rating of child behavior. Seventy‐four percent (63/85) of women started treatment before conception, 64% (54/85) reached the phenylalanine target range before conception. Pregnancy planning resulted in earlier achievement of the phenylalanine target (18 weeks before conception planned vs. 11 weeks of gestation unplanned, p < 0.001) and lower plasma phenylalanine concentrations during pregnancy, particularly in the first trimester (0–7 weeks of gestation: 247 μmol/L planned vs. 467 μmol/L unplanned, p < 0.0001; 8–12 weeks of gestation: 235 μmol/L planned vs. 414 μmol/L unplanned, p < 0.001). Preconceptual dietary training increased the success rate of achieving the phenylalanine target before conception compared to women without training (19 weeks before conception vs. 9 weeks of gestation, p < 0.001). The majority (93%) of children had normal IQ (mean 103, median age 7.3 years); however, IQ decreased with increasing phenylalanine concentration during pregnancy. Good metabolic control during pregnancy is the prerequisite to prevent maternal PKU syndrome in the offspring. This can be achieved by timely provision of detailed information, preconceptual dietary training, and careful planning of pregnancy.