Prenatal findings of holoprosencephaly

Yuko Hayashi; Nobuhiro Suzumori; Tokio Sugiura; Mayumi Sugiura-Ogasawara

doi:10.1111/cga.12103

Prenatal findings of holoprosencephaly

Congenit Anom (Kyoto). 2015 Aug;55(3):161-3. doi: 10.1111/cga.12103.

Authors

Yuko Hayashi^{1

2

3}, Nobuhiro Suzumori^{1

2}, Tokio Sugiura⁴, Mayumi Sugiura-Ogasawara^{1

2}

Affiliations

¹ Department of Obstetrics and Gynecology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.
² Division of Clinical and Molecular Genetics, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.
³ Department of Obstetrics and Gynecology, Nagoya East Medical Center, Nagoya, Japan.
⁴ Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.

PMID: 25620469
DOI: 10.1111/cga.12103

Abstract

Holoprosencephaly (HPE) is a rare brain abnormality characterized by an incomplete cleavage of the primitive prosencephalon of forebrain during early embryogenesis. To determine the clinical characteristics and outcome of fetuses with HPE, we retrospectively analyzed nine patients who were prenatally diagnosed as fetal HPE by ultrasounds. The mean diagnostic weeks were 20 weeks of gestation. Two cases died within one day after birth. The chromosomal examinations were performed in seven cases (trisomy 18: n = 2; trisomy 13: n = 2; 45,XX,der(18)t(18;21)(p10;p10)mat: n = 1; normal karyotype: n = 2). In our HPE cases, most cases had serious facial anomalies and poor prognosis. Our data suggested that the early prenatal diagnosis of HPE allowed time for parental counseling and delivery planning.

Keywords: chromosome; holoprosencephaly; prenatal diagnosis; ultrasound.

Publication types

Case Reports

MeSH terms

Adult
Brain / abnormalities*
Chromosome Aberrations
Face / abnormalities*
Female
Holoprosencephaly / diagnosis*
Humans
Infant
Infant, Newborn
Male
Pregnancy
Prenatal Diagnosis*
Retrospective Studies