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[脊髓发育不良患儿亲属中隐性脊柱裂的发病率。高危筛查的指征]

[Incidence of spina bifida occulta in relatives of children with myelodysplasia. Indications for high-risk screening].

作者信息

Jährig K, Wüchner U

出版信息

Zentralbl Gynakol. 1985;107(13):821-6.

PMID:3898657
Abstract

Consanguineous relatives (parents, siblings) of patients with myelodysplasia show an increased incidence of spina bifida occulta compared to a normal population. According to this and considering the obvious familiarity of neural tube defects, in all cases of a spina bifida occulta known in relatives a high-risk-screening (AFP, B-scan ultrasound) should be performed during early pregnancy. Patients with a spina bifida occulta should be informed about their anomaly and in case of pregnancy instruct the obstetrician to provide a careful screening examination.

摘要

与正常人群相比,骨髓发育异常患者的近亲(父母、兄弟姐妹)隐性脊柱裂发病率更高。据此,并考虑到神经管缺陷明显具有家族性,对于亲属中已知患有隐性脊柱裂的所有病例,应在孕早期进行高危筛查(甲胎蛋白、B超)。应告知隐性脊柱裂患者本人其病情异常,并在其怀孕时指导产科医生进行仔细的筛查检查。

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