无脑畸形及其相关先天性畸形:乌干达东部一家农村医院分娩的病例报告

Ismail Opolot, Christopher Knox Waako, J. Wandabwa, Joyce Namwase, Jennipher Mariam Konso
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摘要

简介:无脑畸形也称为颅裂,是神经管缺陷谱系的一部分,当神经管在发育的第3和第4周不能正常关闭时发生,导致胎儿丢失,死产或新生儿死亡。文献表明,无脑畸形的病因是多因素的,涉及遗传和环境的相互作用,但没有很好地表征。在本病例报告中,我们介绍了无脑畸形的特点及其不同的临床相关畸形。方法:采用病例报告研究设计,探讨导致无脑畸形分娩的产前和产前事件。记录了出生时和出生后的胎儿观察和结果。我们还记录了在整个ANC期间对母亲的护理,分娩时间和产后直到出院。结果:29岁G2P1+0, 29W2D,表现为2天突发性进行性阴道出血,入院第2天无明显无污物分泌物,无腹痛、发热、外伤史。两天后,她通过剖腹产生下了一个严重神经畸形的早产儿,1分钟时APGAR评分为6分,5分钟时APGAR评分为4分。出生体重1.5 kg,体长48.6cm。婴儿生命指标逐渐恶化,最终于分娩后36分钟死亡。结论:虽然基因组和环境因素之间的相互作用在导致无脑畸形的原因中起关键作用还不能明确评估,但有一个了解产前和产前因素,如缺乏叶酸和或干扰其生物利用度,妊娠期间使用致畸药物和产前产妇条件。因此,我们建议在怀孕前3个月至妊娠头3个月期间,向有意或有怀孕风险的女孩和妇女定期提供叶酸,并就怀孕期间使用天然药物和任何其他传统药物进行健康教育。
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Anencephaly and Its Associated Congenital Anomalies: A Case Report of a Delivery in a Rural Hospital, in Eastern Uganda
Introduction: Anencephaly also called cranioschisis is part of neural tube defects spectrum which occur when the neural tube fails to close normally during the 3rd and 4th weeks of development leading to fetal loss, still birth or neonatal death. Literature show that causation of anencephaly is multifactorial involving interaction of genetics and the environment though not well characterized. In this case report, we present the features of anencephaly and its different clinical associated malformations. Methods: A case report study design was employed to explore the prenatal and antenatal events that resulted into an anencephaly delivery. The intra-natal and immediate postnatal fetal observations and outcome were documented. We also documented the care given to the mother throughout ANC, time of delivery and postnatally until discharge. Results: 29-year G2P1+0 at 29W2D, presented with 2 days’ sudden progressive per vaginal bleeding and clear non-foul discharge on 2nd day of admission with no history of abdominal pain, fever or trauma. Two days later she was delivered by Caesarean section to a grossly neural malformed preterm baby boy with APGAR score 6 at 1 minute and 4 at 5 minutes. Birth weight and length were 1.5 kg and 48.6cm respectively. The baby life indicators deteriorated progressively and finally died at 36 minutes after time of delivery. Conclusion: Although interaction between genomic and environmental factors that play a key role in the causation of anencephaly can not clearly be evaluated, there is an understanding of pre-natal and antenatal factors that predispose to this case such as lack of Folate and or interference with its bioavailability, use of teratogenic drugs taken during pregnancy and antenatal maternal conditions. We therefore recommend routine supply of folate to girls and women intending or risk to conceive 3 months before pregnancy through first trimester and health education about use of native drugs and any other conventional medicines during pregnancy.
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