Obstetrics & Gynecology Email Alerts
HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
QUICK SEARCH:   [advanced]


     

Obstetrics & Gynecology 1996;87:948-952
© 1996 by The American College of Obstetricians and Gynecologists
This Article
Right arrow Full Text (PDF)
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Download to citation manager
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Vintzileos, A.
Right arrow Articles by Knuppel, R.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Vintzileos, A.
Right arrow Articles by Knuppel, R.

Articles

The use of second-trimester genetic sonogram in guiding clinical management of patients at increased risk for fetal trisomy 21

AM Vintzileos, WA Campbell, JF Rodis, ER Guzman, JC Smulian, and RA Knuppel

OBJECTIVE: To test the efficacy of ultrasound in detecting fetuses with trisomy 21. METHODS: From November 1, 1992, to December 31, 1995, a second-trimester genetic sonogram was offered to all women with singleton fetuses at increased risk (at least 1:274) for trisomy 21, who had either declined genetic amniocentesis or chose to have a sonogram before deciding whether to undergo an amniocentesis. In addition to standard fetal biometry, the following ultrasound markers for aneuploidy were evaluated: structural anomalies (including face, hands, and cardiac [four-chamber view and outflow tracts]), short femur, short humerus, pyelectasis, nuchal fold thickening, echogenic bowel, choroid plexus cysts, hypoplastic middle phalanx of the fifth digit, wide space between the first and second toes, and two-vessel umbilical cord. Outcome information included the results of genetic amniocentesis, if performed, or the results of postnatal pediatric assessment and follow-up. RESULTS: Five hundred seventy-three patients had a genetic sonogram between 15 and 23 weeks' gestation: 378 patients had advanced maternal age (at least 35 years), 141 had abnormal serum biochemistry, and 54 had both. The majority (495, or 86.3%) had a normal genetic sonogram (absence of abnormal ultrasound markers); 51 (9%) had one marker present, and 27 (4.7%) had two or more markers present. Outcome was obtained on 422 patients (the remaining were ongoing pregnancies or were lost to follow-up). Twelve of 14 fetuses with trisomy 21, one fetus with trisomy 13, and one fetus with triploidy had two or more abnormal ultrasound markers present; one fetus with trisomy 21 had one abnormal marker and one had a completely normal ultrasound. When one or more abnormal ultrasound markers were present, the sensitivity, specificity, and positive and negative predictive values for trisomy 21 were 92.8%, 86.7%, 19.4%, and 99.7%, respectively. When two or more abnormal ultrasound markers were present, the corresponding values were 85.7%, 96.8%, 48%, and 99.5%. In the study population, the amniocentesis rate was 12.7% overall and 17.3% in cases with known outcome. CONCLUSION: Second-trimester genetic sonogram may be a reasonable alternative for patients at increased risk for fetal trisomy 21 who wish to avoid amniocentesis. In experienced hands, this approach may result in a high detection rate of trisomy 21 (93%), with an amniocentesis rate of less than 20%.


This article has been cited by other articles:


Home page
 J Ultrasound MedHome page
Y. M. V. Fang, P. Benn, and J. F. X. Egan
Use of the Genetic Sonogram in the United States in 2001 and 2007
J. Ultrasound Med., November 1, 2008; 27(11): 1543 - 1548.
[Abstract] [Full Text] [PDF]

Home page
 Obstet GynecolHome page
B. Weisz, P. P. Pandya, A. L. David, W. Huttly, P. Jones, and C. H. Rodeck
Ultrasound Findings After Screening for Down Syndrome Using the Integrated Test
Obstet. Gynecol., May 1, 2007; 109(5): 1046 - 1052.
[Abstract] [Full Text] [PDF]

Home page
 Obstet GynecolHome page
A. O. Odibo, D. M. Stamilio, D. B. Nelson, H. M. Sehdev, and G. A. Macones
A Cost-Effectiveness Analysis of Prenatal Screening Strategies for Down Syndrome
Obstet. Gynecol., September 1, 2005; 106(3): 562 - 568.
[Abstract] [Full Text] [PDF]

Home page
 J Ultrasound MedHome page
G. R. DeVore and R. Romero
Genetic Sonography: An Option for Women of Advanced Maternal Age With Negative Triple-Marker Maternal Serum Screening Results
J. Ultrasound Med., November 1, 2003; 22(11): 1191 - 1199.
[Abstract] [Full Text] [PDF]

Home page
 Obstet GynecolHome page
A. Vintzileos, C. Walters, and L. Yeo
Absent Nasal Bone in the Prenatal Detection of Fetuses With Trisomy 21 in a High-Risk Population
Obstet. Gynecol., May 1, 2003; 101(5): 905 - 908.
[Abstract] [Full Text] [PDF]

Home page
 J Ultrasound MedHome page
W. Lee, G. R. DeVore, C. H. Comstock, K. D. Kalache, B. McNie, T. Chaiworapongsa, G. Conoscenti, M. C. Treadwell, A. Johnson, R. Huang, et al.
Nasal Bone Evaluation in Fetuses With Down Syndrome During the Second and Third Trimesters of Pregnancy
J. Ultrasound Med., January 1, 2003; 22(1): 55 - 60.
[Abstract] [Full Text] [PDF]

Home page
 Obstet GynecolHome page
A. C. RANZINI, E. R. GUZMAN, C. V. ANANTH, D. DAY-SALVATORE, A. J. FISHER, and A. M. VINTZILEOS
Sonographic Identification of Fetuses With Down Syndrome in the Third Trimester: A Matched Control Study
Obstet. Gynecol., May 1, 1999; 93(5): 702 - 706.
[Abstract] [Full Text] [PDF]


HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
Copyright © 1996 by the American College of Obstetricians and Gynecologists.