Maf. Seoud et al., PRENATAL SONOGRAPHIC FINDINGS IN TRISOMY-13, TRISOMY-18, TRISOMY-21 AND TRISOMY-22 - A REVIEW OF 46 CASES, Journal of reproductive medicine, 39(10), 1994, pp. 781-787
A study of 46 patients with trisomic fetuses was performed to determin
e if there are one or more second-trimester ultrasonic findings predic
tive of aneuploidy. Videotapes of ultrasonography performed prior to a
mniocentesis on the 46 fetuses with autosomal trisomy and from a contr
ol group of 50 chromosomally normal fetus es were reviewed without kno
wledge of the karyotype. Fetuses with autosomal trisomies had short lo
ng bones, especially femurs, as well as high biparietal diameter/femur
length ratios. In addition, a nuchal thickness of > 5 mm, abnormal he
art anatomy, slight pyelectasis, increased bowel echogenicity and/or a
bnormal flexion of the hands were all predictive of autosomal trisomie
s.