Outcome of fetal exomphalos diagnosed at 11-14 weeks of gestation

Charbel Abi Khalil, C. Arnaoutoglou, M. Pacilli, A. Szabo, Lee A J David, P. Pandya

Research output: Contribution to journalArticleResearchpeer-review

16 Citations (Scopus)

Abstract

Objective: To determine whether sonographic findings in cases of exomphalos detected at the 11-14-week scan can be used to guide pregnancy management. Methods: Retrospective study of cases of exomphalos identified from the Fetal Medicine Unit database, University College London Hospitals between January 1998 and January 2010. Pregnancy and neonatal data were ascertained from maternal and neonatal records. Fetal exomphalos was categorized into three groups: exomphalos associated with other major structural malformation(s), isolated exomphalos with increased nuchal translucency (NT) and isolated exomphalos with normal NT. Results: A total of 98 cases of exomphalos were identified, of which 45 (45.9%) were associated with other major structural malformation(s), identified antenatally. Isolated exomphalos was found with increased NT in 22 cases (22.4%) and with normal NT in 31 cases (31.6%). Of 80 (81.6%) fetuses that were karyotyped, 43 (53.8%) had a chromosomal abnormality; the most common aneuploidy was trisomy 18 (n = 31; 72.1%). Where exomphalos was associated with other major structural abnormalities, or was isolated with increased NT, the incidence of aneuploidy was high, at 78.9% and 72.2%, respectively. Cases of isolated exomphalos with normal NT were all euploid. In 21 cases (21.4%), exomphalos resolved later in pregnancy and none had apparent abnormalities at birth; isolated exomphalos persisted in only three neonates (3.1%). Conclusions: The finding of a major structural abnormality or of increased NT in association with exomphalos in the first trimester implies a high risk of aneuploidy. Parents can be reassured that fetuses with isolated exomphalos and normal NT are likely to be euploid.

Original languageEnglish
Pages (from-to)401-406
Number of pages6
JournalUltrasound in Obstetrics and Gynecology
Volume39
Issue number4
DOIs
Publication statusPublished - Apr 2012
Externally publishedYes

Keywords

  • 11-14 weeks
  • exomphalos
  • fetal
  • first trimester
  • karyotype
  • omphalocele
  • outcome
  • ultrasound

Cite this

Abi Khalil, C., Arnaoutoglou, C., Pacilli, M., Szabo, A., David, L. A. J., & Pandya, P. (2012). Outcome of fetal exomphalos diagnosed at 11-14 weeks of gestation. Ultrasound in Obstetrics and Gynecology, 39(4), 401-406. https://doi.org/10.1002/uog.10048
Abi Khalil, Charbel ; Arnaoutoglou, C. ; Pacilli, M. ; Szabo, A. ; David, Lee A J ; Pandya, P. / Outcome of fetal exomphalos diagnosed at 11-14 weeks of gestation. In: Ultrasound in Obstetrics and Gynecology. 2012 ; Vol. 39, No. 4. pp. 401-406.
@article{e1a5966170fe4b72b056b6daf42c3063,
title = "Outcome of fetal exomphalos diagnosed at 11-14 weeks of gestation",
abstract = "Objective: To determine whether sonographic findings in cases of exomphalos detected at the 11-14-week scan can be used to guide pregnancy management. Methods: Retrospective study of cases of exomphalos identified from the Fetal Medicine Unit database, University College London Hospitals between January 1998 and January 2010. Pregnancy and neonatal data were ascertained from maternal and neonatal records. Fetal exomphalos was categorized into three groups: exomphalos associated with other major structural malformation(s), isolated exomphalos with increased nuchal translucency (NT) and isolated exomphalos with normal NT. Results: A total of 98 cases of exomphalos were identified, of which 45 (45.9{\%}) were associated with other major structural malformation(s), identified antenatally. Isolated exomphalos was found with increased NT in 22 cases (22.4{\%}) and with normal NT in 31 cases (31.6{\%}). Of 80 (81.6{\%}) fetuses that were karyotyped, 43 (53.8{\%}) had a chromosomal abnormality; the most common aneuploidy was trisomy 18 (n = 31; 72.1{\%}). Where exomphalos was associated with other major structural abnormalities, or was isolated with increased NT, the incidence of aneuploidy was high, at 78.9{\%} and 72.2{\%}, respectively. Cases of isolated exomphalos with normal NT were all euploid. In 21 cases (21.4{\%}), exomphalos resolved later in pregnancy and none had apparent abnormalities at birth; isolated exomphalos persisted in only three neonates (3.1{\%}). Conclusions: The finding of a major structural abnormality or of increased NT in association with exomphalos in the first trimester implies a high risk of aneuploidy. Parents can be reassured that fetuses with isolated exomphalos and normal NT are likely to be euploid.",
keywords = "11-14 weeks, exomphalos, fetal, first trimester, karyotype, omphalocele, outcome, ultrasound",
author = "{Abi Khalil}, Charbel and C. Arnaoutoglou and M. Pacilli and A. Szabo and David, {Lee A J} and P. Pandya",
year = "2012",
month = "4",
doi = "10.1002/uog.10048",
language = "English",
volume = "39",
pages = "401--406",
journal = "Ultrasound in Obstetrics and Gynecology",
issn = "0960-7692",
publisher = "John Wiley & Sons",
number = "4",

}

Abi Khalil, C, Arnaoutoglou, C, Pacilli, M, Szabo, A, David, LAJ & Pandya, P 2012, 'Outcome of fetal exomphalos diagnosed at 11-14 weeks of gestation', Ultrasound in Obstetrics and Gynecology, vol. 39, no. 4, pp. 401-406. https://doi.org/10.1002/uog.10048

Outcome of fetal exomphalos diagnosed at 11-14 weeks of gestation. / Abi Khalil, Charbel; Arnaoutoglou, C.; Pacilli, M.; Szabo, A.; David, Lee A J; Pandya, P.

In: Ultrasound in Obstetrics and Gynecology, Vol. 39, No. 4, 04.2012, p. 401-406.

Research output: Contribution to journalArticleResearchpeer-review

TY - JOUR

T1 - Outcome of fetal exomphalos diagnosed at 11-14 weeks of gestation

AU - Abi Khalil, Charbel

AU - Arnaoutoglou, C.

AU - Pacilli, M.

AU - Szabo, A.

AU - David, Lee A J

AU - Pandya, P.

PY - 2012/4

Y1 - 2012/4

N2 - Objective: To determine whether sonographic findings in cases of exomphalos detected at the 11-14-week scan can be used to guide pregnancy management. Methods: Retrospective study of cases of exomphalos identified from the Fetal Medicine Unit database, University College London Hospitals between January 1998 and January 2010. Pregnancy and neonatal data were ascertained from maternal and neonatal records. Fetal exomphalos was categorized into three groups: exomphalos associated with other major structural malformation(s), isolated exomphalos with increased nuchal translucency (NT) and isolated exomphalos with normal NT. Results: A total of 98 cases of exomphalos were identified, of which 45 (45.9%) were associated with other major structural malformation(s), identified antenatally. Isolated exomphalos was found with increased NT in 22 cases (22.4%) and with normal NT in 31 cases (31.6%). Of 80 (81.6%) fetuses that were karyotyped, 43 (53.8%) had a chromosomal abnormality; the most common aneuploidy was trisomy 18 (n = 31; 72.1%). Where exomphalos was associated with other major structural abnormalities, or was isolated with increased NT, the incidence of aneuploidy was high, at 78.9% and 72.2%, respectively. Cases of isolated exomphalos with normal NT were all euploid. In 21 cases (21.4%), exomphalos resolved later in pregnancy and none had apparent abnormalities at birth; isolated exomphalos persisted in only three neonates (3.1%). Conclusions: The finding of a major structural abnormality or of increased NT in association with exomphalos in the first trimester implies a high risk of aneuploidy. Parents can be reassured that fetuses with isolated exomphalos and normal NT are likely to be euploid.

AB - Objective: To determine whether sonographic findings in cases of exomphalos detected at the 11-14-week scan can be used to guide pregnancy management. Methods: Retrospective study of cases of exomphalos identified from the Fetal Medicine Unit database, University College London Hospitals between January 1998 and January 2010. Pregnancy and neonatal data were ascertained from maternal and neonatal records. Fetal exomphalos was categorized into three groups: exomphalos associated with other major structural malformation(s), isolated exomphalos with increased nuchal translucency (NT) and isolated exomphalos with normal NT. Results: A total of 98 cases of exomphalos were identified, of which 45 (45.9%) were associated with other major structural malformation(s), identified antenatally. Isolated exomphalos was found with increased NT in 22 cases (22.4%) and with normal NT in 31 cases (31.6%). Of 80 (81.6%) fetuses that were karyotyped, 43 (53.8%) had a chromosomal abnormality; the most common aneuploidy was trisomy 18 (n = 31; 72.1%). Where exomphalos was associated with other major structural abnormalities, or was isolated with increased NT, the incidence of aneuploidy was high, at 78.9% and 72.2%, respectively. Cases of isolated exomphalos with normal NT were all euploid. In 21 cases (21.4%), exomphalos resolved later in pregnancy and none had apparent abnormalities at birth; isolated exomphalos persisted in only three neonates (3.1%). Conclusions: The finding of a major structural abnormality or of increased NT in association with exomphalos in the first trimester implies a high risk of aneuploidy. Parents can be reassured that fetuses with isolated exomphalos and normal NT are likely to be euploid.

KW - 11-14 weeks

KW - exomphalos

KW - fetal

KW - first trimester

KW - karyotype

KW - omphalocele

KW - outcome

KW - ultrasound

UR - http://www.scopus.com/inward/record.url?scp=84859366494&partnerID=8YFLogxK

U2 - 10.1002/uog.10048

DO - 10.1002/uog.10048

M3 - Article

C2 - 21793081

AN - SCOPUS:84859366494

VL - 39

SP - 401

EP - 406

JO - Ultrasound in Obstetrics and Gynecology

JF - Ultrasound in Obstetrics and Gynecology

SN - 0960-7692

IS - 4

ER -