Check the Head: Emergency Ultrasound Diagnosis of Fetal Anencephaly

Hall, John W.; Denne, Nicolas; Minardi, Joseph; Williams, Debra; Balcik, Brenden J.

doi:10.5811/westjem.2016.5.30326

Cited by 12 publications

(10 citation statements)

References 19 publications

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“…4 USG merupakan metode pencitraan awal ideal untuk deteksi abnormalitas janin karena kapasitas diagnostik yang tinggi, tidak invasif, cepat, dan biaya relatif terjangkau. 12 Selain itu, dapat dilakukan pemeriksaan serum alfa-fetoprotein (AFP) ibu pada trimester kedua kehamilan. 2 Alfafetoprotein adalah protein plasma yang diproduksi oleh kantung embrionik dan hati janin; kadar AFP serum, cairan amnion, dan urin berfungsi sebagai pemeriksaan awal untuk cacat bawaan dan kelainan kromosom.…”

Section: Kasusunclassified

Anensefali Diduga Akibat Defisiensi Asam Folat

Erdiana¹

2021

CDK

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<p>Anensefali merupakan bagian dari Neural Tube Defect (NTD) yang disebabkan kegagalan penutupan tabung saraf. Salah satu faktor yang paling berpengaruh terhadap anensefali adalah kurangnya asam folat saat masa prekonsepsi dan awal kehamilan. Dilaporkan seorang wanita G3P1A1 umur 25 tahun dengan usia kehamilan 40 minggu, cukup bulan dan janin anensefali. Riwayat persalinan sebelumnya tidak pernah mengalami hal serupa. Selama hamil pasien tidak pernah mengonsumsi asam folat. Pasien melahirkan pervaginam, bayi anensefali meninggal 4 jam setelah dilahirkan. Kondisi pasien stabil dan diperbolehkan pulang.</p><p>Anencephaly is part of Neural Tube Deffect (NTD) caused by failure of neural tube closure. One of the most influential factor is folic acid deficiency during preconception and early pregnancy. Case : G3P1A1 woman aged 25 years with 40 weeks of gestation, presented in emergency unit with aterm pregnancy with anencephaly. Previous childbirth history is negative. During pregnancy, patient never consumes folic acid. The baby was vaginally delivered, died 4 hours after birth. Patient was discharged with stable condition.</p>

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Section: Kasusunclassified

Anensefali Diduga Akibat Defisiensi Asam Folat

Erdiana¹

2021

CDK

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“…The sonographic and pathological findings of exencephaly is a variable amount of recognizable cerebral tissue, but in anencephaly the hemispheres are replaced by masses of connective and vascular tissue with spread islands of neural tissue, called area cerebrovasculosa or angiomatous stroma. In the coronal view of the head, the irregular masses above the fetal orbits floating into the amniotic fluid without cranial structures above were described as the ‘Mickey mouse’ sign [ 33 ].…”

Section: ⧉ Clinical and Morphological Featuresmentioning

confidence: 99%

“…Anencephaly means that there is a failed closure of the midbrain and forebrain, but there is normal fusion in the cerebellum, pons and medulla oblongata [ 39 ]. The “frog eye” sign can be recognized and it means that protruding orbital structures are associated with abnormal development of the cortex [ 33 ].…”

Section: ⧉ Clinical and Morphological Featuresmentioning

confidence: 99%

The etiopathogenic and morphological spectrum of anencephaly: a comprehensive review of literature

Munteanu

Cîrstoiu²,

Filipoiu

et al. 2020

Rom J Morphol Embryol

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Anencephaly is a severe malformation of the central nervous system (CNS), being one of the most common types of neural tube defects. It is defined as total or partial absence of the calvarium , with absence of the brain. Anencephaly has an incidence of 1 to 5 in every 1000 births, and the mortality rate is 100% during intrauterine life or within hours or days after birth. The etiology of anencephaly remains unclear, but various maternal-related environmental and genetic risk factors have been reported, which include diabetes, obesity, exposure to different drugs or toxins, genetic polymorphisms and mutations, as well as positive family history for neural tube defects. One of the most important nutritional factors in the development of anencephaly is folate deficiency. Methylenetetrahydrofolate reductase ( MTHFR ) gene codes the enzyme involved in the intracellular metabolism of folic acid; the 677C-T polymorphism of this gene causes the thermolability of the enzyme and decreased enzymatic activity, which is also dependent of folate plasmatic level. Etiopathogenesis of anencephaly includes several mutations in various other genes, such as: platelet-derived growth factor receptor alpha ( PDGFRA ), cadherin epidermal growth factor (EGF) laminin G (LAG) seven-pass G-type receptor 1 ( CELSR1 ), Vang-like 1 ( VANGL1 ) and Vang-like 2 ( VANGL2 ), the last two being involved in the process of neurulation. Screening tests include maternal serum alpha-fetoprotein level and ultrasound (US) examination. During the first trimester US screening, anencephaly is now detected in all cases, but in order to decrease the complication rate of pregnancy termination, the diagnosis should be established as soon as possible, during the pregnancy confirmation US. We conclude that given that anencephaly is a severe malformation of the CNS, morphological characterization could improve the screening by US that is mandatory in the first trimester in order to plan the best, safe and early management.

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“…10 It can be detected as early as 11 weeks' gestation using ultrasound diagnostic imaging. 11 One in 1000 pregnancies in the United States is diagnosed with anencephaly annually. 10 Receiving a diagnosis of a pregnancy complicated by anencephaly is a traumatic experience for parents, as the pregnancy experience is instantly transformed from a joyous event to an overwhelming tragedy.…”

Section: Introductionmentioning

confidence: 99%

“…Anencephaly is a life-limiting congenital anomaly in which the neural tube does not form by the 28th day of gestation 10 . It can be detected as early as 11 weeks' gestation using ultrasound diagnostic imaging 11 . One in 1000 pregnancies in the United States is diagnosed with anencephaly annually 10 .…”

Section: Introductionmentioning

confidence: 99%

Providing Palliative Care to Neonates With Anencephaly in the Home Setting

Berry¹

2021

J Hosp Palliat Nurs

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Parents who choose to carry a pregnancy complicated by a life-limiting congenital anomaly such as anencephaly may give birth to a live neonate and be discharged home. Very little guidance is available to health care professionals providing palliative care in the home setting to this population. This article is a secondary analysis that discusses the concerns and complications that parents experienced after bringing home a neonate with anencephaly. Each parental experience is a qualitative descriptive summary extracted from a larger study on the impact of anencephaly on parents. Parents reported feeling alone in their grief and struggled with their partners' differing style of grief. Parents' primary concerns after hospital discharge included transporting their neonate home, feeding their neonate, changing cranial defect dressings, managing pain and seizures, addressing uncertainty, and facilitating a good death. All parents received hospice services from health care professionals without perinatal bereavement training or experience. Only 1 woman received follow-up care after the death of her son. Preparing and educating health care professionals providing hospice and palliative services with perinatal bereavement training may be beneficial. Identifying and allocating local and online perinatal bereavement resources may provide parents with the tools and support necessary to facilitate healing after perinatal loss.

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Check the Head: Emergency Ultrasound Diagnosis of Fetal Anencephaly

Cited by 12 publications

References 19 publications

Anensefali Diduga Akibat Defisiensi Asam Folat

Anensefali Diduga Akibat Defisiensi Asam Folat

The etiopathogenic and morphological spectrum of anencephaly: a comprehensive review of literature

Providing Palliative Care to Neonates With Anencephaly in the Home Setting

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