Chromosomal abnormalities in fetuses with open neural tube defects: prenatal identification with ultrasound

• DOI: 10.1002/uog.964
• Publication Date: 2004-03-26T08:05:10Z
• Authors: W. Sepulveda; E. Corral; C. Ayala; C. Be; J. Gutierrez; P. Vasquez
• Keywords: Anencephaly; Trisomy; Neural tube defect; Abnormality

Abstract Objectives To determine the prevalence of chromosomal abnormalities in fetuses with open neural tube defects (NTD) undergoing prenatal chromosome analysis. The role ultrasound detecting those an underlying abnormality was also investigated. Methods Over a 6‐year period, 144 NTD underwent analysis between 12 and 37 weeks gestation, as part prospective, multicenter diagnosis counseling program Chile. This population included 66 spina bifida, 46 acrania/anencephaly, 21 cephalocele 11 iniencephaly. A confident made 143 (99%) confirmed postnatally all cases. Results An diagnosed 10 (7%), six three one craniorachischisis. varied according to defect present fetus, 14% (3/21) among cephalocele, 9% (6/66) bifida 2% (1/57) lethal such acrania, anencephaly or Karyotype results revealed trisomy 18 seven cases, 13 two mosaicism for marker one. Prenatal before procedure showed that chromosomally abnormal had additional findings. higher when performed at 24 gestation comparison after (5/31 (16%) vs. 4/56 respectively). However, this difference did not reach statistical significance, probably due small number Conclusions significant are abnormal. Although should be considered seems effective identifying abnormality. Copyright © 2004 ISUOG. Published by John Wiley & Sons, Ltd.