First description of a case of classic maternal phenylketonuria and sonographic signs of fetal trisomy 21
H Lehnen, M Vinke, G Schwennicke, G Schwennicke, U Pascheberg · Ultraschall in der Medizin - European Journal of Ultrasound · 2008 · Heft 05
Bibliografische Angaben
Zusammenfassung
Summary: Phenylketonuria is the best known pathology of amino acid metabolism. Presented here is the case of a 23-year old prima-gravida with phenylketonuria since birth. After delivery, her child was diagnosed with free trisomy 21. Abnormal sonographic signs such as bilateral hydrothorax, polyhydramnion, and short femura under the 10th percentile could be demonstrated in the ultrasound scan at 33 weeks gestation. Regularly measured maternal phenylalanine levels during complete pregnancy as well as preconceptionally were always under the embryopathic cut-off point of 1200micromoles/l (20mg/l). An association see…
