Prenatal Diagnosis Center, Department of Gynecology and Obstetrics, São João Hospital, Medicine Faculty, University of Porto, Rua Damião de Góis No. 363, Porto, Portugal.
Fetal Diagn Ther. 2011;29(2):166-70. doi: 10.1159/000320735. Epub 2010 Dec 11.
To evaluate the contribution of prenatal and postmortem examinations in establishing the aetiology of acrania.
Retrospective evaluation of 14 cases of acrania managed through elective termination of pregnancy.
The median maternal age was 30 years (range 18-40) and median gestational age at diagnosis was 13 weeks (range 12-15). One mother had epilepsy and was taking anticonvulsants and another had uncontrolled type II diabetes mellitus. Only 3 women were using folic acid at conception. Chromosomal abnormalities were detected in 3 of 8 cases analyzed. Unilateral anopthalmia, cervical rachischisis, midline facial and limb defects coexisted with acrania in 4 cases. Acrania with craniofacial dysmorphism and asymmetrical finger amputation were observed in a case of amniotic band syndrome. A previous history of anencephaly was documented in 1 case.
Acrania is a characteristic phenotypic expression of a variety of different aetiologies. Investigation with cytogenetic studies and postmortem are essential to provide a definitive answer. This will provide a better understanding of the underlying aetiology and help establish the recurrence risk for future pregnancies.
评估产前和产后检查在确定尖头畸形病因中的作用。
回顾性评估 14 例经选择性终止妊娠治疗的尖头畸形病例。
母亲的中位年龄为 30 岁（范围 18-40），诊断时的中位孕龄为 13 周（范围 12-15）。1 位母亲患有癫痫并服用抗癫痫药，另 1 位患有未控制的 2 型糖尿病。仅 3 位女性在受孕时使用了叶酸。在分析的 8 例中有 3 例发现了染色体异常。4 例存在单侧无眼、颈椎脊柱裂、中线面部和肢体缺陷合并尖头畸形。1 例羊膜带综合征表现为颅面畸形和不对称的手指截肢。1 例既往无脑回病史。
尖头畸形是多种不同病因的特征性表型表达。细胞遗传学研究和尸检调查对于提供明确的答案至关重要。这将有助于更好地了解潜在病因，并为未来妊娠的复发风险提供依据。
