Prenatal diagnosis of Beckwith-Wiedemann syndrome

Daniel H. Williams, Daniel W. Gauthier, Max Maizels*

*Corresponding author for this work

Research output: Contribution to journalArticle

50 Citations (Scopus)

Abstract

Objectives: The diagnosis of Beckwith-Wiedemann syndrome (BWS) typically is made after birth. To our knowledge, no established guidelines exist for the prenatal diagnosis of this condition. We present two new cases of prenatally diagnosed BWS and propose a diagnostic schema. Methods: Published reports obtained from Medline searches were reviewed and combined with our cases. Results: Our proposed schema of two major criteria (abdominal wall defect, macroglossia, macrosomia) or one major plus two minor criteria (nephromegaly/dysgenesis, adrenal cytomegaly, aneuploidy/abnormal loci, polyhydramnios) fits all published reports of prenatally diagnosed BWS. Conclusion: The prenatal diagnosis of BWS can be reliably made by applying our proposed guidelines. This schema allows for uniform fetal diagnosis of the syndrome and helps prepare for prenatal counseling and peri- and post-natal management strategies.

Original languageEnglish (US)
Pages (from-to)879-884
Number of pages6
JournalPrenatal Diagnosis
Volume25
Issue number10
DOIs
StatePublished - Oct 1 2005

Fingerprint

Beckwith-Wiedemann Syndrome
Prenatal Diagnosis
Macroglossia
Guidelines
Polyhydramnios
Abdominal Wall
Aneuploidy
Counseling
Parturition

Keywords

  • Beckwith-Wiedemann syndrome
  • Fetal ultrasound
  • Macroglossia
  • Omphalocele
  • Prenatal diagnosis

ASJC Scopus subject areas

  • Obstetrics and Gynecology
  • Genetics(clinical)

Cite this

Williams, Daniel H. ; Gauthier, Daniel W. ; Maizels, Max. / Prenatal diagnosis of Beckwith-Wiedemann syndrome. In: Prenatal Diagnosis. 2005 ; Vol. 25, No. 10. pp. 879-884.
@article{cb9c4b0003f04498b283eacb5c068a91,
title = "Prenatal diagnosis of Beckwith-Wiedemann syndrome",
abstract = "Objectives: The diagnosis of Beckwith-Wiedemann syndrome (BWS) typically is made after birth. To our knowledge, no established guidelines exist for the prenatal diagnosis of this condition. We present two new cases of prenatally diagnosed BWS and propose a diagnostic schema. Methods: Published reports obtained from Medline searches were reviewed and combined with our cases. Results: Our proposed schema of two major criteria (abdominal wall defect, macroglossia, macrosomia) or one major plus two minor criteria (nephromegaly/dysgenesis, adrenal cytomegaly, aneuploidy/abnormal loci, polyhydramnios) fits all published reports of prenatally diagnosed BWS. Conclusion: The prenatal diagnosis of BWS can be reliably made by applying our proposed guidelines. This schema allows for uniform fetal diagnosis of the syndrome and helps prepare for prenatal counseling and peri- and post-natal management strategies.",
keywords = "Beckwith-Wiedemann syndrome, Fetal ultrasound, Macroglossia, Omphalocele, Prenatal diagnosis",
author = "Williams, {Daniel H.} and Gauthier, {Daniel W.} and Max Maizels",
year = "2005",
month = "10",
day = "1",
doi = "10.1002/pd.1155",
language = "English (US)",
volume = "25",
pages = "879--884",
journal = "Prenatal Diagnosis",
issn = "0197-3851",
publisher = "John Wiley and Sons Ltd",
number = "10",

}

Prenatal diagnosis of Beckwith-Wiedemann syndrome. / Williams, Daniel H.; Gauthier, Daniel W.; Maizels, Max.

In: Prenatal Diagnosis, Vol. 25, No. 10, 01.10.2005, p. 879-884.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Prenatal diagnosis of Beckwith-Wiedemann syndrome

AU - Williams, Daniel H.

AU - Gauthier, Daniel W.

AU - Maizels, Max

PY - 2005/10/1

Y1 - 2005/10/1

N2 - Objectives: The diagnosis of Beckwith-Wiedemann syndrome (BWS) typically is made after birth. To our knowledge, no established guidelines exist for the prenatal diagnosis of this condition. We present two new cases of prenatally diagnosed BWS and propose a diagnostic schema. Methods: Published reports obtained from Medline searches were reviewed and combined with our cases. Results: Our proposed schema of two major criteria (abdominal wall defect, macroglossia, macrosomia) or one major plus two minor criteria (nephromegaly/dysgenesis, adrenal cytomegaly, aneuploidy/abnormal loci, polyhydramnios) fits all published reports of prenatally diagnosed BWS. Conclusion: The prenatal diagnosis of BWS can be reliably made by applying our proposed guidelines. This schema allows for uniform fetal diagnosis of the syndrome and helps prepare for prenatal counseling and peri- and post-natal management strategies.

AB - Objectives: The diagnosis of Beckwith-Wiedemann syndrome (BWS) typically is made after birth. To our knowledge, no established guidelines exist for the prenatal diagnosis of this condition. We present two new cases of prenatally diagnosed BWS and propose a diagnostic schema. Methods: Published reports obtained from Medline searches were reviewed and combined with our cases. Results: Our proposed schema of two major criteria (abdominal wall defect, macroglossia, macrosomia) or one major plus two minor criteria (nephromegaly/dysgenesis, adrenal cytomegaly, aneuploidy/abnormal loci, polyhydramnios) fits all published reports of prenatally diagnosed BWS. Conclusion: The prenatal diagnosis of BWS can be reliably made by applying our proposed guidelines. This schema allows for uniform fetal diagnosis of the syndrome and helps prepare for prenatal counseling and peri- and post-natal management strategies.

KW - Beckwith-Wiedemann syndrome

KW - Fetal ultrasound

KW - Macroglossia

KW - Omphalocele

KW - Prenatal diagnosis

UR - http://www.scopus.com/inward/record.url?scp=27144503435&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=27144503435&partnerID=8YFLogxK

U2 - 10.1002/pd.1155

DO - 10.1002/pd.1155

M3 - Article

VL - 25

SP - 879

EP - 884

JO - Prenatal Diagnosis

JF - Prenatal Diagnosis

SN - 0197-3851

IS - 10

ER -