Assessment of fetal malformations in the first trimester of pregnancy by three-dimensional ultrasonography in the rendering mode. Pictorial essay.

Júnior, Edward Araujo; Rôlo, Líliam Cristine; Tonni, Gabriele; Haeri, Sina; Ruano, Rodrigo

doi:10.11152/mu.2013.2066.171.eaj

Cited by 6 publications

(4 citation statements)

References 15 publications

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“…Fetal MRI at 35 weeks showed a right fetal abdominal wall defect measuring 2.4 mm in transverse diameter and integrity of the intra‐ and extra‐abdominal loops of small bowel. Araujo Júnior et al 34 presented a pictorial essay of prenatal diagnosis of fetal malformations in the first trimester of pregnancy by 3D ultrasound. The authors described a case of gastroschisis at 12 weeks using 3D ultrasound in the rendering mode showing clearly the “irregular” mass exteriorizing from a right‐sided abdominal defect.…”

Section: Discussionmentioning

confidence: 99%

“…Fetal MRI at 35 weeks showed a right fetal abdominal wall defect measuring 2.4 mm in transverse diameter and integrity of the intra-and extra-abdominal loops of small bowel. Araujo Júnior et al34 presented a pictorial essay of prenatal diagnosis of fetal malformations in the first trimester of pregnancy by 3D ultrasound. The authors described a case of gastroschisis at 12 weeks using 3D ultrasound in the rendering mode showing clearly the "irregular" mass exteriorizing from a right-sided abdominal defect.In conclusion, this case series demonstrates the timing between the closure of the umbilical ring and the intestinal migration into the abdomen leading to its most severe form, CG-VG, is unpredictable and occurs mainly after 26 weeks of gestation.…”

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confidence: 99%

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Prenatal diagnosis of closed gastroschisis: What to expect in the most severe form of gastroschisis? Case report and literature review

Castro,

Matos,

Macedo

et al. 2023

J of Clinical Ultrasound

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Closed gastroschisis (CG) and vanishing gastroschisis (VG) are the most severe forms of evolution of the malformation. In this case, a fetus presented with gastroschisis at 13 weeks, and the gastroschisis was not visualized at 22 weeks of gestation. Distal ileum, cecum, and ascending colon atresia were diagnosed at surgery, and the child is fully enteral‐fed at 5 months of age. In a literature review of 43 cases of prenatal diagnosis of CS‐VG, intrauterine death occurred in 4.5% of cases. 79.6% of the cases underwent surgical treatment. Of these cases, 20% of cases died due to complications of treatment, 26% were still under treatment and 54% are alive with enteral feeding. In 77% of the cases, the closure of the umbilical ring occurred after 26 weeks of gestation and the absence of prenatal diagnosis of CG‐VG during pregnancy has a risk of 71% of death.

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Section: Discussionmentioning

confidence: 99%

mentioning

confidence: 99%

Prenatal diagnosis of closed gastroschisis: What to expect in the most severe form of gastroschisis? Case report and literature review

Castro,

Matos,

Macedo

et al. 2023

J of Clinical Ultrasound

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“…Araujo Júnior et al affirmed that cranial defect can be appreciated better in coronal imaging of the face, but it can also be evaluated in a sagittal plan. In coronal section, the calvaria above the orbit is absent, suggesting the diagnosis of anencephaly [43].…”

Section:  Current State Of Knowledgementioning

confidence: 99%

“…Definitive diagnosis during the first trimester will allow counseling of parents and termination of pregnancy [43,52]. If termination of the pregnancy is not an option, there are some maternal outcomes that should be considered.…”

Section:  Current State Of Knowledgementioning

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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Advanced 3D Visualization and 3D Printing in Radiology

Fidvi

Holder

et al. 2023

Advances in Experimental Medicine and Biology

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Assessment of fetal malformations in the first trimester of pregnancy by three-dimensional ultrasonography in the rendering mode. Pictorial essay.

Cited by 6 publications

References 15 publications

Prenatal diagnosis of closed gastroschisis: What to expect in the most severe form of gastroschisis? Case report and literature review

Prenatal diagnosis of closed gastroschisis: What to expect in the most severe form of gastroschisis? Case report and literature review

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

Advanced 3D Visualization and 3D Printing in Radiology

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