title: Three-dimensional ultrasonographic visualization of fetal chromosome abnormalities: a preliminary experience report of 4 cases.
abstract: The accurate diagnosis of fetal malformations in utero can provide both heath care providers and parents a number of management options. Three-dimensional ultrasonography is a new technique of diagnosis which has several potential advantages to allow for evaluation of specific anomalies by permitting high-quality views of body surface. We report 4 cases of fetal chromosomal abnormalities including 2 cases of trisomy 21, 1 case of trisomy 13 and 1 case of 48, XXY/+18. All cases were proved to have abnormal chromosomes by amniocentesis or percutaneous umbilical cord blood sampling. After 3D reconstruction, we can identify specific facial abnormalities which can not be visualized by conventional two-dimensional ultrasound such as low set ear Mongolian's slant eyes, facial dysmorphism of trisomy 13 and trisomy 18. We also clearly visualized abnormalities of digits such as overlapping fingers, club hands and sandal gap. Three-dimensional reconstruction of the fetal body surface improves the antenatal diagnosis of chromosomal abnormalities characterized by a particular dysmorphism. Our report suggests that three-dimensional ultrasonography has the potential to provide novel informations on the fetal anatomy and be useful in visualization and identification of chromosomal abnormalities in utero.
authors.affiliation: Division of Fetal Diagnosis and Therapy, Department of Obstetrics and Gynecology, Faculty of Medicine, Khon Kaen University, Khon Kaen 40002, Thailand.
authors.forename: Ratana
authors.initials: R
authors.lastname: Komwilaisak
authors.forename: Thawalwong
authors.initials: T
authors.lastname: Ratanasiri
authors.forename: Pilaiwan
authors.initials: P
authors.lastname: Kleebkaow
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging*; D000328:Adult; D000649:Amniocentesis; D002869:Chromosome Aberrations; D025063:Chromosome Disorders / Q000000981:diagnostic imaging; D002882:Chromosomes, Human, Pair 13; D002887:Chromosomes, Human, Pair 18; D041321:Chromosomes, Human, X; D041322:Chromosomes, Human, Y; D000013:Congenital Abnormalities / Q000000981:diagnostic imaging*; D004314:Down Syndrome / Q000000981:diagnostic imaging*; D005145:Face / Q000002:abnormalities / Q000000981:diagnostic imaging; D005260:Female; D005865:Gestational Age; D006801:Humans; D021621:Imaging, Three-Dimensional; D011247:Pregnancy; D012729:Sex Chromosome Aberrations; D016216:Ultrasonography, Prenatal; D014470:Umbilical Cord / Q000098:blood supply