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Fetal hyperechogenic bowel and Down's syndrome
Author(s) -
Nyberg D. A.,
Resta R. G.,
Mahony B. S.,
Dubinsky T.,
Luthy D. A.,
Hickok D. E.,
Luthardt F. W.
Publication year - 1993
Publication title -
ultrasound in obstetrics and gynecology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.202
H-Index - 141
eISSN - 1469-0705
pISSN - 0960-7692
DOI - 10.1046/j.1469-0705.1993.03050330.x
Subject(s) - trisomy , amniocentesis , medicine , fetus , down syndrome , aneuploidy , abnormality , turner syndrome , chromosome abnormality , pregnancy , obstetrics , gastroenterology , prenatal diagnosis , chromosome , karyotype , genetics , biology , psychiatry , gene
Hyperechogenic bowel was identified among 55 of 6781 (0.81%) fetuses prior to second‐trimester genetic amniocentesis. Trisomy 21 was found in eight of the 55 (14.5%) fetuses identified with hyperechogenic bowel compared to 60 of 6726 (0.89%) fetuses with normal bowel echogenicity ( p < 0.001). Hyperechogenic bowel carried a 16‐fold greater risk for Down's syndrome than normal bowel echogenicity (relative risk 16.8, 95% confidence intervals 8.2–32.5). Chromosome abnormalities other than trisomy 21 were found in four additional fetuses with hyperechogenic bowel (two triploid and one each with 47,XXX; 45,X/47,XXX mosaicisim). Combining these four cases with the eight fetuses having trisomy 21, 21.8% (12 of 55) of fetuses with hyperechogenic bowel proved to have a chromosome abnormality. We conclude that hyperechogenic bowel is associated with chromosome abnormalities, particularly Down's syndrome, when detected during the second trimester. Copyright © 1993 International Society of Ultrasound in Obstetrics and Gynecology