Prenatal findings of holoprosencephaly.
Prenatal findings of holoprosencephaly.
复制标题
前脑无裂畸形的产前发现。
DOI：
10.1111/cga.12103
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发表时间：
2015
期刊：
影响因子：
1.3
通讯作者：
Sugiura-Ogasawara M
中科院分区：
文献类型：
--
作者：
Hayashi Y;Suzumori N;Sugiura T;Sugiura-Ogasawara M
前脑无裂畸形（HPE）是一种罕见的脑畸形，其特征是前脑原始前脑在胚胎发育早期发生不完全分裂。为了确定HPE胎儿的临床特征和结局，我们回顾性分析了9例产前超声诊断为胎儿HPE的患者。平均诊断周数为妊娠20周。2例出生后1天内死亡。对7例患者进行了染色体检查（18三体2例，13三体2例，45，XX，der（18）t（18;21）（p10;p10）mat 1例，正常核型2例）。在我们的HPE病例中，大多数病例有严重的面部畸形，预后不良。我们的数据表明，HPE的早期产前诊断为父母咨询和分娩计划提供了时间。
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.