Second-trimester echogenic bowel and chromosomal abnormalities

Scioscia, Angela L.; Pretorius, Dolores H.; Budorick, Nancy E.; Cahill, Timothy C.; Axelrod, Fumiko; Leopold, George R.

doi:10.1016/s0002-9378(12)80007-x

Cited by 89 publications

(48 citation statements)

References 16 publications

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“…8). [74][75][76][77][78] Hyperechoic bowel has also been reported in association with bowel atresia, congenital infection, and, rarely, meconium ileus secondary to cystic fibrosis. 79,80 An increased risk of IUGR, fetal death, and placenta-related complications is also recognized as being associated with hyperechoic bowel.…”

Section: Hyperechoic Bowelmentioning

confidence: 99%

Sonographic markers of fetal trisomies: second trimester.

Nyberg

Souter

2001

J of Ultrasound Medicine

112

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Objective. Second-trimester sonographic findings of fetal trisomy may include structural abnormalities or sonographic markers of fetal aneuploidy. Unlike structural anomalies, sonographic markers of fetal aneuploidy are insignificant by themselves with regard to outcome, are nonspecific-most frequently seen in normal fetuses, and are often transient. Our objective was to review the secondtrimester sonographic findings of the major trisomic conditions, trisomies 13, 18, and 21. Methods. We reviewed a number of the most commonly accepted markers, including nuchal thickening, hyperechoic bowel, echogenic intracardiac focus, renal pyelectasis, shortened extremities, mild cerebral ventricular dilatation, and choroid plexus cysts. Markers associated with trisomy 21 were emphasized. Results. The sensitivity of sonography for detection of fetal trisomic conditions varies with the type of chromosome abnormality, gestational age at the time of sonography, reasons for referral, criteria for positive sonographic findings, and the quality of the sonography. As an estimate, 1 or more sonographic findings can be identified in approximately 90% of fetuses with trisomy 13, 80% of fetuses with trisomy 18, and 50% to 70% of fetuses with trisomy 21 (Down syndrome). Conclusions. The presence or absence of sonographic markers can substantially modify the risk of fetal Down syndrome and is the basis of the so-called genetic sonogram. Because maternal biochemical and sonographic markers are largely independent, combined risk estimates will result in even higher detection rates than either alone.

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Section: Hyperechoic Bowelmentioning

confidence: 99%

Sonographic markers of fetal trisomies: second trimester.

Nyberg

Souter

2001

J of Ultrasound Medicine

112

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“…Fetal echogenic bowel (FEB) on second-trimester ultrasonography has been found to be associated with cystic fibrosis (CF) [1][2][3][4][5][6][7], chromosomal abnormalities [5][6][7][8][9][10][11], intrauterine growth restriction (IUGR) [2,5,6,9,10], intrauterine fetal demise (IUFD) [2,5,6,9,10,12], congenital infection [6,9,12], fetal anomalies [13], preterm delivery [5,6], gastrointestinal obstruction and/or perforation not associated with CF [3,12,14], intra-amniotic bleeding [15,16], and fetal alcohol syndrome [6]. While several causes for FEB have been cited by different authors, most previous studies have focused only on a limited number of the possible associations and etiologies.…”

Section: Introductionmentioning

confidence: 99%

Evaluation of Fetal Echogenic Bowel in the Second Trimester

Yaron

Hassan²,

Geva

et al. 1999

Fetal Diagn Ther

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Previous studies cite different possible etiologies for fetal echogenic bowel (FEB). The purpose of this study was to evaluate the possible etiologies for second-trimester FEB, and to provide clinical guidelines for evaluation of this finding. The study included 79 patients diagnosed with FEB in the second trimester. Fifteen cases (19%) were associated with maternal vaginal bleeding. Of these, 12 patients underwent amniocentesis, 9 of which had visible blood products in the amniotic fluid. Seven cases (8.9%) had associated severe malformation. Seven other cases (8.9%) were noted in multifetal pregnancies. Five fetuses (6.3%) had evidence of bowel obstruction or perforation not associated with cystic fibrosis (CF). Chromosomal aberrations were found in 5 fetuses (6.3%). Intrauterine infection with cytomegalovirus, herpes simplex virus, varicella-zoster virus, or parvovirus B-19 was documented in 5 patients (6.3%). Three cases (3.8%) were associated with subsequent unexplained stillbirth. Two fetuses (2.5%) were found to be affected by CF. Finally, in 30 cases (38%), no obvious reason for FEB was found. We conclude that the evaluation of second-trimester FEB should include targeted ultrasound for associated malformations, infectious studies, DNA analysis for CF mutations, amniocentesis for chromosomal analysis and evaluation of the amniotic fluid for degraded blood products, and an autopsy in cases of stillbirth. Even when no apparent reason is found, pregnancies should be considered at high risk for poor outcome.

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“…It is readily distinguishable from the more florid features of meconium peritonitis such as fetal ascites, intra-abdominal calcification, and intestinal dilatation.' [8][9][10] 14 Among the remainder, however, there was an abnormally high incidence of karyotype abnormalities, intra-uterine growth retardation, and perinatal death.…”

Section: Definitionmentioning

confidence: 99%