Undiagnosed maternal phenylketonuria: the need for prenatal selective screening or case finding. Am J Obstet Gynecol 1999 Apr;180(4):986-94
Date
04/16/1999Pubmed ID
10203668DOI
10.1016/s0002-9378(99)70671-xScopus ID
2-s2.0-0032937137 (requires institutional sign-in at Scopus site) 27 CitationsAbstract
OBJECTIVES: The aims of this article are to report on a review of cases of maternal phenylketonuria in the International Maternal Phenylketonuria Collaborative Study that were initially diagnosed during or after a pregnancy, to alert health care practitioners to the possible existence of women with undiagnosed phenylketonuria whose fetuses are at risk, and to emphasize that not all adults with untreated phenylketonuria are mentally retarded.
STUDY DESIGN: The study was conducted through retrospective database review.
RESULTS: Of 414 women with live-born infants, 17 fulfilled our criteria. Six had phenylketonuria diagnosed after they had produced >/=1 affected offspring, 2 had phenylketonuria diagnosed as a result of transient postnatal hyperphenylalaninemia in an offspring, and 9 had phenylketonuria diagnosed by prenatal screening. Undiagnosed maternal phenylketonuria in North America and Europe is currently estimated at 1 case/100,000 births; this rate could be higher elsewhere.
CONCLUSIONS: Physicians and midwives should consider a protocol of selective prenatal screening or case finding to detect undiagnosed phenylketonuria among their patients.
Author List
Hanley WB, Platt LD, Bachman RP, Buist N, Geraghty MT, Isaacs J, O'Flynn ME, Rhead WJ, Seidlitz G, Tishler BAuthor
William Rhead MD, PhD Adjunct Professor in the Pediatrics department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
AdolescentAdult
Female
Fetal Diseases
Humans
Phenylalanine
Phenylketonuria, Maternal
Pregnancy
Pregnancy Outcome
Prenatal Diagnosis
Retrospective Studies
