Prenatal diagnosis of alobar holoprosencephaly by two-dimensional and three-dimensional ultrasound

Tsung Hsuan Lai, Chiung-Hsin Chang, Chen-Hsiang Yu, Pao-Lin Kuo, Fong Ming Chang

Research output: Contribution to journalArticle

49 Citations (Scopus)

Abstract

The aim of this study is to evaluate the sonographic characteristics of alobar holoprosencephaly (AH) in utero. Seventeen cases were diagnosed at 16-30 weeks' gestation by two-dimensional and three-dimensional ultrasound from October 1994 to December 1998. In this series, the prenatal prevalence was 1 out of 415 and the detection rate or AH by prenatal ultrasound was 100%. Eleven cases (64.7%) had concurrent facial anomalies. Cleft lip and hypotelorism were the most common associated facial anomalies (72.7%). Two cases (11.8%) were twin pregnancy with one fetus affected. We present one of the largest series in the literature and compare it with previous reports. From this series, we concluded that: (1) intracranial findings, including monoventricle, fused thalami, and the absence of midline structures, were reliable sonographic characteristics for prenatal diagnosis; (2) cleft lip and hypotelorism seemed to he more common associated facial malformations than cyclopia or cebocephaly with AH; and (3) although three-dimensional ultrasound did not change the diagnosis of AH made by two-dimensional ultrasound in this series, three-dimensional ultrasound does assist in defining the severity and extent of AH. Copyright (C) 2000 John Wiley and Sons, Ltd.

Original languageEnglish
Pages (from-to)400-403
Number of pages4
JournalPrenatal Diagnosis
Volume20
Issue number5
DOIs
Publication statusPublished - 2000 May 25

Fingerprint

Holoprosencephaly
Prenatal Diagnosis
Cleft Lip
Twin Pregnancy
Thalamus
Fetus
Pregnancy

All Science Journal Classification (ASJC) codes

  • Obstetrics and Gynaecology
  • Genetics(clinical)

Cite this

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abstract = "The aim of this study is to evaluate the sonographic characteristics of alobar holoprosencephaly (AH) in utero. Seventeen cases were diagnosed at 16-30 weeks' gestation by two-dimensional and three-dimensional ultrasound from October 1994 to December 1998. In this series, the prenatal prevalence was 1 out of 415 and the detection rate or AH by prenatal ultrasound was 100{\%}. Eleven cases (64.7{\%}) had concurrent facial anomalies. Cleft lip and hypotelorism were the most common associated facial anomalies (72.7{\%}). Two cases (11.8{\%}) were twin pregnancy with one fetus affected. We present one of the largest series in the literature and compare it with previous reports. From this series, we concluded that: (1) intracranial findings, including monoventricle, fused thalami, and the absence of midline structures, were reliable sonographic characteristics for prenatal diagnosis; (2) cleft lip and hypotelorism seemed to he more common associated facial malformations than cyclopia or cebocephaly with AH; and (3) although three-dimensional ultrasound did not change the diagnosis of AH made by two-dimensional ultrasound in this series, three-dimensional ultrasound does assist in defining the severity and extent of AH. Copyright (C) 2000 John Wiley and Sons, Ltd.",
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Prenatal diagnosis of alobar holoprosencephaly by two-dimensional and three-dimensional ultrasound. / Lai, Tsung Hsuan; Chang, Chiung-Hsin; Yu, Chen-Hsiang; Kuo, Pao-Lin; Chang, Fong Ming.

In: Prenatal Diagnosis, Vol. 20, No. 5, 25.05.2000, p. 400-403.

Research output: Contribution to journalArticle

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