Prenatal sonographic findings in trisomy 13, 18, 21 and 22. A review of 46 cases.
A study of 46 patients with trisomic fetuses was performed to determine if there are one or more second-trimester ultrasonic findings predictive of aneuploidy. Videotapes of ultrasonography performed prior to amniocentesis on the 46 fetuses with autosomal trisomy and from a control group of 50 chromosomally normal fetuses were reviewed without knowledge of the karyotype. Fetuses with autosomal trisomies had short long bones, especially femurs, as well as high biparietal diameter/femur length ratios. In addition, a nuchal thickness of > 5 mm, abnormal heart anatomy, slight pyelectasis, increased bowel echogenicity and/or abnormal flexion of the hands were all predictive of autosomal trisomies.
Department of Obstetrics and Gynecology, University of Kansas Medical Center, Kansas City.
M A
MA
Seoud
D C
DC
Alley
D L
DL
Smith
D L
DL
Levy
D000328:Adult; D000649:Amniocentesis; D001699:Biometry; D002869:Chromosome Aberrations / Q000000981:diagnostic imaging*; D025063:Chromosome Disorders; D002882:Chromosomes, Human, Pair 13; D002887:Chromosomes, Human, Pair 18; D002891:Chromosomes, Human, Pair 21; D002892:Chromosomes, Human, Pair 22; D005260:Female; D005269:Femur / Q000002:abnormalities; D005315:Fetal Diseases / Q000000981:diagnostic imaging* / Q000503:physiopathology; D006330:Heart Defects, Congenital; D006801:Humans; D007422:Intestines / Q000002:abnormalities; D007682:Kidney Pelvis / Q000002:abnormalities; D008423:Maternal Age; D009333:Neck / Q000002:abnormalities; D011237:Predictive Value of Tests; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D014314:Trisomy / Q000175:diagnosis* / Q000503:physiopathology; D016216:Ultrasonography, Prenatal