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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。

相似文献

1
[Incidence of spina bifida occulta in relatives of children with myelodysplasia. Indications for high-risk screening].[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]
Zentralbl Gynakol. 1985;107(13):821-6.
2
Inidcations for prenatal diagnosis in relatives of patients with neural tube defects.神经管缺陷患者亲属的产前诊断指征。
Obstet Gynecol. 1978 Jan;51(1):72-6.
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"Isolated" hydrocephalus in families of spina bifida and anencephaly: a coincidence?脊柱裂和无脑儿家族中的“孤立性”脑积水:是巧合吗?
Neuropediatrics. 1989 Nov;20(4):220-2. doi: 10.1055/s-2008-1071297.
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Course of pregnancy, family history and genetics in children with spina bifida.脊柱裂患儿的妊娠过程、家族史及遗传学
Z Kinderchir. 1990 Apr;45(2):72-7. doi: 10.1055/s-2008-1042554.
5
[Incidence of occult lumbro-sacral spina bifida in parents of children with spina bifida (concerning 80 pairs of parents with affected children)].脊柱裂患儿父母中隐匿性腰骶部脊柱裂的发病率(涉及80对有患病子女的父母)
J Genet Hum. 1986 Aug;34(3-4):285-92.
6
Sib risk of neural tube defect: is prenatal diagnosis indicated in pregnancies following the birth of a hydrocephalic child?神经管缺陷的同胞风险:脑积水患儿出生后的妊娠是否需要进行产前诊断?
J Med Genet. 1979 Feb;16(1):14-6. doi: 10.1136/jmg.16.1.14.
7
[Obstetrical anamnestic characteristics of the mothers of probands with anencephaly and myelocele].[无脑儿和脊髓脊膜膨出先证者母亲的产科既往史特征]
Akush Ginekol (Mosk). 1981 Jan(1):23-5.
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[Neural tube defects (spina bifida and anencephaly) in Brittany].[布列塔尼地区的神经管缺陷(脊柱裂和无脑儿)]
Pediatrie. 1985 Sep;40(6):461-8.
9
The family history of "simple" congenital hydrocephalus. An epidemiological study based on 270 probands.“单纯性”先天性脑积水的家族史。一项基于270名先证者的流行病学研究。
Z Kinderchir. 1984 Dec;39 Suppl 2:94-5. doi: 10.1055/s-2008-1044293.
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Brief communication: possible X-linked anencephaly and spina bifida--report of a kindred.简短通讯:可能的X连锁无脑畸形和脊柱裂——一个家系报告
Am J Med Genet. 1980;6(2):119-21. doi: 10.1002/ajmg.1320060205.

引用本文的文献

1
Lumbo-sacral malformations and spina bifida occulta in medieval skeletons from Brittany.来自布列塔尼的中世纪骨骼中的腰骶部畸形和隐性脊柱裂。
Eur J Orthop Surg Traumatol. 2013 Feb;23(2):149-53. doi: 10.1007/s00590-012-0967-2. Epub 2012 Mar 7.