title: Sonographic recognition of major malformations and aberrant fetal growth in trisomic fetuses.
abstract: Structural malformations and growth retardation are commonly observed in chromosomally abnormal newborns. This study assesses the sensitivity of ultrasound for detecting aberrant fetal growth patterns and chromosome-related major malformations. The study population consisted of 74 trisomic fetuses (trisomy 13, 9; trisomy 18, 22; trisomy 21, 43). Overall, 63% (38 of 60) of trisomic fetuses had at least one major malformation on postnatal examination. One or more major anomalies were identified by prenatal sonography in 68% (26 of 38) of these malformed fetuses and 43% (26 of 60) of the entire trisomic population. Midtrimester onset growth retardation was evident in 43% of fetuses with trisomy 13 and 59% of fetuses with trisomy 18. These findings suggest that a systematic fetal anatomic survey can be a powerful screening tool for the prenatal detection of chromosome abnormalities.
authors.affiliation: Department of Obstetrics and Gynecology, Washington University School of Medicine, St. Louis, Missouri.
authors.forename: J M
authors.initials: JM
authors.lastname: Dicke
authors.forename: J P
authors.initials: JP
authors.lastname: Crane
mesh_terms: D002869:Chromosome Aberrations / Q000000981:diagnostic imaging*; D025063:Chromosome Disorders; D002882:Chromosomes, Human, Pair 13; D002887:Chromosomes, Human, Pair 18; D000013:Congenital Abnormalities / Q000000981:diagnostic imaging*; D004314:Down Syndrome / Q000000981:diagnostic imaging; D005314:Embryonic and Fetal Development; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging*; D005317:Fetal Growth Retardation / Q000000981:diagnostic imaging*; D005865:Gestational Age; D006330:Heart Defects, Congenital / Q000000981:diagnostic imaging; D006801:Humans; D011247:Pregnancy; D011256:Pregnancy Outcome; D012680:Sensitivity and Specificity; D014314:Trisomy; D016216:Ultrasonography, Prenatal