The risk of a major trisomy in fetuses with pyelectasis: the impact of an abnormal maternal serum screen or additional sonographic markers.

Abstract

OBJECTIVE:

This study was undertaken to evaluate the contribution of either an abnormal second-trimester maternal serum screen or the presence of additional sonographic markers of aneuploidy to the risk of a major trisomy (13, 18, and 21) in fetuses with pyelectasis.

STUDY DESIGN:

A retrospective review of a large amniocentesis database was performed. Specimens obtained after the sonographic detection of fetal pyelectasis were eligible for analysis. Age-matched women who underwent amniocentesis solely for maternal anxiety or advanced maternal age served as controls.

RESULTS:

760,495 amniocentesis specimens were analyzed. Fetal pyelectasis was detected in 671 cases. Pyelectasis, with either a single or multiple additional sonographic markers, was associated with an 8-fold and 62-fold increase in the prevalence of major trisomies (odds ratio = 7.7, 95% CI = 1.2-32.6, P = 0.02) and (odds ratio = 61.9, 95% CI = 13.2-144.6, P < .001), respectively. Pyelectasis with an abnormal maternal serum screen, with or without additional sonographic markers, was associated with a 32-fold and a 205-fold increase in major trisomies (odds ratio = 32.2, 95% CI = 5.3-94.8, P < .001) and (odds ratio = 205.8, 95% CI = 37.9-427.6, P < .001), respectively.

CONCLUSION:

In fetuses with pyelectasis, the presence of additional sonographic markers or an abnormal maternal serum screen significantly increases the risk of trisomy 13, 18, and 21.

• Authors: Eran Bornstein, Yoni Barnhard, Alan E Donnenfeld, Asaf Ferber, Michael Y Divon
• Journal: American journal of obstetrics and gynecology (Am J Obstet Gynecol) Vol. 196 Issue 5 Pg. e24-6 (May 2007) ISSN: 1097-6868 [Electronic] United States
• PMID: 17466669 (Publication Type: Journal Article)

Chemical References

• Biomarkers

Topics

• Adult
• Amniocentesis
• Biomarkers (blood)
• Case-Control Studies
• Chromosome Disorders (blood, complications, diagnostic imaging)
• Female
• Fetal Diseases (blood, diagnostic imaging)
• Humans
• Hydronephrosis (blood, complications, diagnostic imaging)
• Pregnancy
• Retrospective Studies
• Risk
• Trisomy (diagnosis)
• Ultrasonography, Prenatal