Abstract
OBJECTIVE: To assess the ability of ultrasound in predicting abnormal karyotype in pregnancies with prenatally diagnosed omphaloceles and to compare its test characteristics to previously published studies. METHODS: A retrospective case-control study of omphaloceles diagnosed at one center was performed from 1995-2007. Cases were those with an abnormal karyotype and controls were those with a normal karyotype. Data collection included demographics, karyotype results, and ultrasound findings. The number and type of associated anomalies were compared between the cases and controls. The sensitivity, specificity, positive predictive value, and negative predictive value for predicting an abnormal karyotype were calculated from previously published studies. RESULTS: Of the 73 subjects, there were 12 cases and 61 controls. The majority of women were Caucasian and primigravida. The cases were less likely to have an isolated omphalocele [1 (8.3%) vs. 27 (42.6%), OR = 0.122; 95% CI: 0.02-0.08] but were more likely to have two or more major anomalies [8 (66.7%) vs. 17 (27.9%), OR = 5.18; 95% CI: 1.19-24.04)] compared to the controls. Cardiac anomalies and only one additional major anomaly were not different between the two groups, P > 0.05. The test characteristics for this study were similar to previously published studies. CONCLUSIONS: Isolated omphaloceles were more likely to have a normal karyotype; however fetuses with multiple anomalies were more likely to have an abnormal karyotype. Despite advances in ultrasound technology, its ability for predicting an abnormal karyotype in these fetuses has not improved.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 65-69 |
| Number of pages | 5 |
| Journal | Journal of Neonatal-Perinatal Medicine |
| Volume | 7 |
| Issue number | 1 |
| DOIs | |
| State | Published - Jan 1 2014 |
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Keywords
- omphalocele
- Prenatal diagnosis
- ultrasound
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Medicine(all)
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Predicting fetal karyotype in fetuses with omphalocele : The current role of ultrasound. / Zork, Noelia M.; Pierce, S.; Zollinger, T.; Kominiarek, M.
In: Journal of Neonatal-Perinatal Medicine, Vol. 7, No. 1, 01.01.2014, p. 65-69.Research output: Contribution to journal › Article
TY - JOUR
T1 - Predicting fetal karyotype in fetuses with omphalocele
T2 - The current role of ultrasound
AU - Zork, Noelia M.
AU - Pierce, S.
AU - Zollinger, T.
AU - Kominiarek, M.
PY - 2014/1/1
Y1 - 2014/1/1
N2 - OBJECTIVE: To assess the ability of ultrasound in predicting abnormal karyotype in pregnancies with prenatally diagnosed omphaloceles and to compare its test characteristics to previously published studies. METHODS: A retrospective case-control study of omphaloceles diagnosed at one center was performed from 1995-2007. Cases were those with an abnormal karyotype and controls were those with a normal karyotype. Data collection included demographics, karyotype results, and ultrasound findings. The number and type of associated anomalies were compared between the cases and controls. The sensitivity, specificity, positive predictive value, and negative predictive value for predicting an abnormal karyotype were calculated from previously published studies. RESULTS: Of the 73 subjects, there were 12 cases and 61 controls. The majority of women were Caucasian and primigravida. The cases were less likely to have an isolated omphalocele [1 (8.3%) vs. 27 (42.6%), OR = 0.122; 95% CI: 0.02-0.08] but were more likely to have two or more major anomalies [8 (66.7%) vs. 17 (27.9%), OR = 5.18; 95% CI: 1.19-24.04)] compared to the controls. Cardiac anomalies and only one additional major anomaly were not different between the two groups, P > 0.05. The test characteristics for this study were similar to previously published studies. CONCLUSIONS: Isolated omphaloceles were more likely to have a normal karyotype; however fetuses with multiple anomalies were more likely to have an abnormal karyotype. Despite advances in ultrasound technology, its ability for predicting an abnormal karyotype in these fetuses has not improved.
AB - OBJECTIVE: To assess the ability of ultrasound in predicting abnormal karyotype in pregnancies with prenatally diagnosed omphaloceles and to compare its test characteristics to previously published studies. METHODS: A retrospective case-control study of omphaloceles diagnosed at one center was performed from 1995-2007. Cases were those with an abnormal karyotype and controls were those with a normal karyotype. Data collection included demographics, karyotype results, and ultrasound findings. The number and type of associated anomalies were compared between the cases and controls. The sensitivity, specificity, positive predictive value, and negative predictive value for predicting an abnormal karyotype were calculated from previously published studies. RESULTS: Of the 73 subjects, there were 12 cases and 61 controls. The majority of women were Caucasian and primigravida. The cases were less likely to have an isolated omphalocele [1 (8.3%) vs. 27 (42.6%), OR = 0.122; 95% CI: 0.02-0.08] but were more likely to have two or more major anomalies [8 (66.7%) vs. 17 (27.9%), OR = 5.18; 95% CI: 1.19-24.04)] compared to the controls. Cardiac anomalies and only one additional major anomaly were not different between the two groups, P > 0.05. The test characteristics for this study were similar to previously published studies. CONCLUSIONS: Isolated omphaloceles were more likely to have a normal karyotype; however fetuses with multiple anomalies were more likely to have an abnormal karyotype. Despite advances in ultrasound technology, its ability for predicting an abnormal karyotype in these fetuses has not improved.
KW - omphalocele
KW - Prenatal diagnosis
KW - ultrasound
UR - http://www.scopus.com/inward/record.url?scp=84902156540&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84902156540&partnerID=8YFLogxK
U2 - 10.3233/NPM-1475013
DO - 10.3233/NPM-1475013
M3 - Article
C2 - 24815707
AN - SCOPUS:84902156540
VL - 7
SP - 65
EP - 69
JO - Journal of Neonatal-Perinatal Medicine
JF - Journal of Neonatal-Perinatal Medicine
SN - 1934-5798
IS - 1
ER -