Ultrasound Appearances of the Acrania‐Anencephaly Sequence at 10 to 14 Weeks’ Gestation

Wertaschnigg, Dagmar; Reddy, Maya; Ramkrishna, Jayshree; Costa, Fabrício da Silva; Sepúlveda, Waldo; Rolnik, Daniel L.; Meagher, Simon

doi:10.1002/jum.15267

Cited by 10 publications

(9 citation statements)

References 23 publications

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“…The mortality rate is 100% during intrauterine life or within hours or days of birth and the percentage of pregnancy termination is greater than 83% [3]. Other malformative anomalies are associated in 12-25% and genetic anomalies are detected in 1-5% [4]. The exact etiology of anencephaly remains uncertain, several environmental and genetic risk factors have been incriminated, mainly folate deficiency.…”

Section: Discussionmentioning

confidence: 99%

Termination of Pregnancy After Prenatal Diagnosis of Anencephaly: Case Study and Literature Review

Youssouf¹,

Sami²,

Wajih³

et al. 2022

Med Clin Case Rep

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Anencephaly is a form of neural tube defect, which develops when the cranial neuropore is unable to close. It is one of the fatal neural tube defects. Although most causes of anencephaly are unknown, multiple risk factors are associated with this defect. The purpose of this article is to study the main risk factors and possible means of prevention of this common malformation through a clinical case and a literature review.

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Section: Discussionmentioning

confidence: 99%

Termination of Pregnancy After Prenatal Diagnosis of Anencephaly: Case Study and Literature Review

Youssouf¹,

Sami²,

Wajih³

et al. 2022

Med Clin Case Rep

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“…One retrospective study of 88 cases of the spectrum concluded that there are six subtypes; described as overhanging, elongated, bilobular, cystic, foreshortened, and irregular, with the first three accounting for 75% of all cases. 9 In his pictorial essay, Santana et al 1 showed images of acrania with cysts in the brain, describing them as cystic acrania. Sepulveda et al 10 also recently described a previously unknown firsttrimester presentation of the sequence in three foetuses.…”

Section: Discussionmentioning

confidence: 99%

Ultrasound diagnosis of acrania with major low–lying placenta and polyhydramnios; case report

Oblitey

Antwi

Botwe

et al. 2021

gmj

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Acrania is a rare foetal anomaly in which the calvaria is absent, and the meninges come into direct contact with the amniotic fluid. Acrania is the most common anomaly in the acrania – exencephaly – anencephaly spectrum, with anincidence of 3.68 to 5.4 per 10,000 live births. We present a case of a primigravida who presented for an ultrasound on account of vaginal bleeding in early cyesis. Transabdominal ultrasound showed a viable foetus at 13 weeks without a calvaria, with the brain in direct contact with amniotic fluid. There was a low-lying placenta extending from the posterior to anterior part of the lower uterine segment, completely covering the internal cervical os (major low–lying placenta), a placental cyst and polyhydramnios (amniotic fluid index, AFI of 17 cm). A diagnosis of acrania with major low–lying placenta and polyhydramnios was made. Detailed ultrasound is required to detect acrania at 13 weeks. The diagnosis of acrania is required to help direct patient counselling and maternal expectation. When acrania and major low–lying placenta occur in the same patient, both diagnoses must be promptly made concurrently, regardless of gestational age and without waiting for placental trophotropism and migration to occur first.

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“…The mortality rate is 100% during intrauterine life or within hours or days after birth and the termination of pregnancy percent is greater than 83% [ 6 ]. Other structural anomalies can be associated in 12–25% and also genetic abnormalities can be detected in 1–5% [ 7 ].…”

Section: ⧉ Epidemiologymentioning

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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Ultrasound Appearances of the Acrania‐Anencephaly Sequence at 10 to 14 Weeks’ Gestation

Abstract: Sonographic appearances of acrania-anencephaly sequence at 10 to 14 weeks' gestation

Cited by 10 publications

References 23 publications

Termination of Pregnancy After Prenatal Diagnosis of Anencephaly: Case Study and Literature Review

Termination of Pregnancy After Prenatal Diagnosis of Anencephaly: Case Study and Literature Review

Ultrasound diagnosis of acrania with major low–lying placenta and polyhydramnios; case report

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

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