Anencephalic Fetuses Research Articles

THE GIRLS VICTIMS OF SEXUAL ASSAULT AND THE RIGHT TO ACCESS THERAPEUTIC ABORTION

In 2001, 17-year-old KL was pregnant with an anencephalic fetus, which posed a risk to her physical and mental health, and she was denied therapeutic abortion care at a national hospital. Her case was subsequently reported to the Human Rights Committee, which in 2005 ruled that KL had been subjected to cruel, inhuman, and degrading treatment, had been denied the right to privacy, and special consideration as a minor; and that the Peruvian State "has the obligation to adopt measures to prevent similar violations in the future."

Alive without a brain: Acrania/anencephaly, anhydraminios, abdominal-ascites, amelia and agenesis of the kidneys

A gravid middle-aged woman viewed on ultrasound demonstrated a viable anencephalic fetus at 25 weeks gestational age. The absence of the bilateral cerebral hemisphere, cranial vault, anhydramnios, abdominal ascites, and phaco-rhizomelia was discovered. We discuss evidence-based quadra –amelia in a non-consanguineous (negroid) couple of a 25-week prenatal scan. Apart from amelia on all four limbs, the fetus had abdominal ascites with other dysmorphic features. Tetramelia is known to be caused by mutation of the WNTB gene; in close relative inter-marriages. A diagnosis of ascites, amelia, anencephaly/acrania, and anhydramnios was made, and the prognosis was documented in this report.

Is There a Relationship between COVID-19 Infection and the Occurrence of Anencephaly? Observation of the Maternity of Mohammed the VI University Hospital of Marrakech

Introduction: Morocco has experienced, like the whole world, the COVID-19 pandemic. Until the writing of this article, a subjective observation of the increase in the number of anencephaly has been observed in our facility. And since the teratogenic potential of the SARS Cov 2 virus is not sufficiently documented, we wondered if there would be a relationship between the relatively high number of anencephalic fetuses and COVID-19 infection. Aim: the objective of the study is to look for a possible correlation between the period of conception of these anencephalies and the pandemic. Material and methods: This is a retrospective study (from June 1, 2020 to May 31, 2022 in the Obstetrics Gynecology department, Faculty of Medicine and Pharmacy, CADI AYYAD UNIVERSITY Marrakech Morocco) consisting of the analysis of the number of patients in the target embryonic period (namely the closure of the neural tube: D18 to D30 of embryonic life) compared to the reference curves of the evolution of the SARS Cov2 pandemic. Results: The analysis of the number of patients at the target embryonic phase shows that many of our anencephalons (63%) were conceived during periods of high diffusion of the SARS Cov 2 virus in Morocco. Conclusion: Our study suggests a relationship between the COVID-19 pandemic and the occurrence of anencephaly, we cannot, however, highlight the type of direct or indirect relationship that binds them. Therefore, further studies should be considered to better investigate this relationship.

Neural tube defects and uterus development in human fetuses

One of the most common malformations of the central nervous system is related to embryonic neural tube alterations. We hypothesized that anencephaly affects the development of the uterus during the human second trimester of pregnancy. The objective of this study was to study the biometric parameters of the uterus in fetuses with anencephaly and compare them with normocephalic fetuses at that important. In our study, 34 female fetuses were analyzed, 22 normal and 12 anencephalic, aged between 12 and 22 weeks post-conception (WPC). After dissection of the pelvis and individualization of the genital tract, we evaluated the length and width of the uterus using the Image J software. We compared the means statistically using the Wilcoxon-Mann–Whitney test and performed linear regression. We identify significant differences between the uterus length (mm)/weight (g) × 100 (p = 0.0046) and uterus width (mm)/weight (g) × 100 (p = 0.0013) when we compared the control with the anencephalic group. The linear regression analysis indicated that 80% significance was found in the correlations in normocephalic fetuses (12.9 to 22.6 WPC) and 40% significance in anencephalic fetuses (12.3 to 18.6 WPC). The measurements of the uterus were greater in anencephalic group but there are no difference in the uterine width and length growth curves during the period studied. Further studies are required to support the hypothesis suggesting that anencephaly may affect uterine development during the human fetal period.

Vaginal development during 2nd gestational trimester: translational study in human female fetuses with disorders of the neural tube.

One of the most common malformations of the central nervous system is related to embryonic neural tube alterations. We hypothesized that anencephaly affects the development of the vagina during the human second trimester of pregnancy. Our study compared the biometric parameters of the vagina in human female fetuses with neural tube defects. In our study, 34 female fetuses were analyzed, 22 normal and 12 anencephalic, aged between 12 and 22weeks post conception (WPC). After dissection of the pelvis and individualization of the genital tract, we evaluated the length and width of the vagina using the Image J software. We compared the means statistically using the Wilcoxon-Mann-Whitney test and performed linear regression. We do not identify statistical significance between the groups for the measurements of vaginal length (Control 3.12-18.33mm/mean = 9.08mm/SD + -3.77 vs. Anencephalic 2.91-13.10mm/mean = 7.24mm/SD + -2.28, p = 0.3469) and vaginal width (Control 1.04-4.86mm/mean = 2.71mm/SD +-0.94 vs. Anencephalic 1.35-3.17mm/mean = 2.13mm/SD +-0.65; p = 0.2503). The linear regression analysis indicated that 78.57% significance was found in the correlations in normocephalic fetuses and 57.14% significance in anencephalic fetuses (12.3-18.6 WPC). We do not find differences in the length and width of the vagina in anencephalic fetuses but the vaginal length and width shows a lesser tendency of growth in the anencephalic fetuses during the second trimester suggesting that anencephaly can impact the development of the vagina.

Difficulties and Rights of Women in Pregnancy of Anencephalic Fetuses

Abstract: Despite a series of advances in the establishment of specialized services for women in all regions of the country, many still face great difficulties in accessing abortion services. Even in relation to anencephaly, there are still challenges for the proper structuring of legal abortion services, as it is difficult to identify health professionals available for abortion care permitted by law. This article discusses the issues involved in these cases. It was concluded that, due to the moral and religious stigma, there is a refusal of doctors related to the practice of abortion, despite the existence of Brazilian technical norms that regulate this practice. However, the right to conscientious objection is not necessarily recognized in the absence of another medical professional to assist women when there is a risk of death. Keywords: Anencephaly, Abortion, Women's Rights.

A rare case of fetus in fetu in the sacrococcygeal region: CT and MRI findings

BackgroundFetus in fetu is a rare condition in which a malformed fetus is found in the body of a living twin. The retroperitoneum is the most common location of this condition. However, the sacrococcygeal region is a rare site of the disease. The presence of vertebral bodies and limbs differentiates FIF from teratoma. Imaging modalities are important for diagnosing FIF.Case presentationA 12-months old boy was hospitalized because of a mass in the sacrococcygeal region. CT showed a large, complex mass with bony structure resembling sacrococcygeal bone, hip bone and the femur in the sacrococcygeal region of the boy. The blood supply of the mass was from the aorta of the host. MRI revealed the mass was connected with the dilated sacral canal of the host, which resulted in tethered cord. A preoperative diagnosis of FIF was made and surgery was performed to remove the mass. Surgical removal and subsequent pathological examination revealed the anencephalic fetus had limb buds and a sacrum but no axial skeleton, which supported the diagnosis of FIF. Conclusions CT and MRI played important roles in diagnosing FIF based on the location of the lesion.

An Unusual Monochorionic Pregnancy.

An Unusual Monochorionic Pregnancy.

Imaging findings in Fetus-in-fetu-misdiagnosed commonly as teratoma

Fetus in fetu is a rare condition associated with abnormal embryogenesis in a diamniotic, monochorionic pregnancy, wherein one of the fetus is enclosed within the body of another normally developing fetus. It should be differentiated from a teratoma because of the later’s malignant potential. Here we report a case of 2 months old girl child who presented with complaints of abdominal distension. USG showed a solid cystic retroperitoneal mass resembling an anencephalic fetus. Contrast enhanced Computed tomography (CT) showed similar findings with visualization of bones resembling femur, sacrum and vertebrae. Findings were correlated with MRI and post-op pathology. The preoperative diagnosis of FIF is based on the observation of vertebral column or limbs in a mass on imaging modalities and our case meets the required criteria.

The prevalence and distribution of sternalis muscle: a meta-analysis of published literature of the last two hundredyears.

The sternalis muscle (SM) is an anatomical variant that lies subcutaneously and is superficial to the pectoralis major muscle or sternum. The present meta-analysis was conducted to analyze the prevalence, anatomical features, and variance of the SM in different population. In total, 98 studies were included for this meta-analysis. Eighty-two studies dealt with adult subjects, and sixteen studies with fetuses. The worldwide prevalence of SM was observed to be 6% or 0.06 [0.05-0.7, 95% CI] in 27,470 adults, whereas it was 0.29 [0.20-0.39, 95% CI] in 673 fetuses. In 259 anencephalic fetuses, the prevalence was 44% or 0.44 [0.26-0.63, 95% CI], while the same in 414 fetuses without anencephaly was 16% or 0.16 [0.06-0.27, 95% CI]. The reported prevalence rate in Asian mongoloid population (9.1% = 0.091) was three times that of the Asian Caucasian population (3.33% = 0.0333). The prevalence in European descent was 3.93%. Interestingly, the reported prevalence rates in North and South American populations were 3.44% and 3.66%, almost being equivalent. The cadaveric investigations revealed that the SM had an overall prevalence of 5.96% in adults based on 76 studies, which was higher than other modalities of investigations. The multi-detector computerized tomography (MDCT) had shown the prevalence of approximately 4.33%. The same was reported in surgical studies and mammographic studies as 0.47% and 0.02%, respectively. The SM is not an unusual variant of the chest wall musculature. MDCT could be a new method to precisely demonstrate the morphology, course, and size of the SM in vivo.

ANENCEPHALIC FETUS WITH CRANIOSPINAL RACHISCHISIS – CASE REPORT

Anencephaly, in which a substantial part of the brain, skull, or scalp is missing, is a lethal neural tube defect (NTD) that occurs during the fourth week of pregnancy after failed cranial neuropore closure. One in every 1,000 births is anencephalic, and newborns with this NTD are not viable or treatable. Associated with anencephaly is rachischisis, or severe incomplete neural tube closure and exposure of the spinal cord. Ultrasonography can quickly diagnose anencephaly. Like other NTDs, nutritional and environmental factors both play a role in the development of anencephaly. Here, we report and discuss an unusual case of a 12-week gestation anencephalic fetus with craniospinal rachischisis and its embryological roots.
 In our case, except from the low socio-economic life of the patient, the absence of a predisposing factor that could cause such an anomaly, the abortion being in the first trimester and the occurrence in the first pregnancy of the patient as a result of 5-year infertility made us think that pathology examination of the abortus material is important in complet or incomplete abortions.

Retinae of Anencephalic Fetuses: Quantitative Analysis and Comparison with Fetuses Without any Malformations

AbstractAnencephaly is a common congenital malformation characterised by absence of a major portion of the brain. The sequence of brain degeneration starts around 20 days post fertilization which overlaps with the appearance of optic grooves from the forebrain. A number of ocular malformations associated with anencephaly have been reported. Based on the assumption that eyes, which are derived from the brain, are likely to be abnormal since the organ of origin undergoes degeneration, studies have been carried out on anencephalic retinae. Some of the results have indicated that retinae of anencephalic fetuses are abnormal with absence or diminished presence of ganglion cell layer compared to the fetuses without such a brain malformation. We undertook the present study with an aim to objectively and quantitatively evaluate retinal thickness and numbers of ganglion cell in anencephalic fetuses and fetuses without any malformations. Six anencephalic and six fetuses without malformations were included, all of them from 18 to 21 weeks of gestation. Histopathological evaluation of retinae was done and findings compared. We did not find any atrophy or reduced number of ganglion layer cells in anencephalic fetuses. This evaluation assumes importance since retinae from anencephalic fetuses can be a potential source for retinal tissue or stem cell transplant. Moreover, the contention that normal brain development is essential for retinal development appears to be invalid.

An Analysis of the Controversial Relationship Between Anencephaly, Brain Death, and Organ Donation

Abstract Anencephaly is a congenital defect in which the neural tube fails to fully close during the fourth week of embryonic development (Obeidi, Russell, Higgins, & O'Donoghue, 2010). The Medical Task Force on Anencephaly (1990) defined it as a condition with the following four characteristics: (a) A large portion of the skull is absent, (b) the scalp is absent over the skull defect, (c) the exposed tissue is hemorrhagic and fibrotic, and (d) the cerebral hemispheres are indistinguishable. Approximately one in every 4,647 births is affected by anencephaly, with an estimated 847 anencephalic infants born each year (Centers for Disease Control and Prevention, 2020). It is estimated that around 65% of anencephalic fetuses will die in utero, whereas those that survive to birth typically die within a few hours or days of life (Medical Task Force on Anencephaly, 1990). Anencephalic infants who do survive beyond birth often exhibit irregular breathing, requiring the use of mechanical ventilation to be kept alive. For decades, anencephalic infants have been the topic of a highly controversial and heated debate with regard to their status and potential as organ donors. Currently, anencephalic infants are not used as organ donors because they do not meet the criteria for brain death. To some, this seems like the elimination of a vital pool of organ donors, whereas others view this as preservation of the sanctity and dignity of human life. This highly disputed issue of anencephaly and how it relates to both brain death and organ donation is the topic of this discussion.

Urethral and bladder development during the 2nd gestational trimester applied to the urinary continence mechanism: translational study in human female fetuses with neural tube defects.

We hypothesized that anencephaly impacts female lower urinary tract development during the human fetal period. The aim of the present study is to compare the biometric parameters of the bladder and urethra in female human fetuses with and without neural tube defects. We studied 34 female fetuses (22 normal and 12 anencephalic), aged 12 to 22weeks post-conception (WPC). After pelvic dissection and individualization of the urinary tract structures, we evaluated the bladder and urethra length and width using Image J software. Means were statistically compared using the Wilcoxon-Mann-Whitney test, and linear regression was performed. We identified statistical significance between the groups regarding bladder length [normal: 6.58-19.98mm (mean = 12.13 ± 3.21 SD) vs. anencephalic: 4.59-15.27mm (mean = 8.79 ± 3.31 SD, p = 0.0048] and urethral length [normal: 2.22-7.04mm (mean = 4.24 ± 1.45 SD) vs. anencephalic: 0.81-6.36mm (mean = 3.25 ± 1.71 SD, p = 0.05]. We did not observe significant differences in bladder and urethra width between the two groups. The linear regression analysis indicated that the bladder length in anencephalic fetuses increased faster than in normal fetuses. We observed significant differences in the development of the bladder and urethra in fetuses with anencephaly during the fetal period studied, proving that anencephaly can affect the development of the female fetal lower urinary tract.

A loss-of-function NUAK2 mutation in humans causes anencephaly due to impaired Hippo-YAP signaling.

Failure of neural tube closure during embryonic development can result in anencephaly, one of the most common birth defects in humans. A family with recurrent anencephalic fetuses was investigated to understand its etiology and pathogenesis. Exome sequencing revealed a recessive germline 21-bp in-frame deletion in NUAK2 segregating with the disease. In vitro kinase assays demonstrated that the 7-amino acid truncation in NUAK2, a serine/threonine kinase, completely abrogated its catalytic activity. Patient-derived disease models including neural progenitor cells and cerebral organoids showed that loss of NUAK2 activity led to decreased Hippo signaling via cytoplasmic YAP retention. In neural tube-like structures, endogenous NUAK2 colocalized apically with the actomyosin network, which was disrupted in patient cells, causing impaired nucleokinesis and apical constriction. Our results establish NUAK2 as an indispensable kinase for brain development in humans and suggest that a NUAK2-Hippo signaling axis regulates cytoskeletal processes that govern cell shape during neural tube closure.

Is 'viability' viable? Abortion, conceptual confusion and the law in England and Wales and the United States.

In this paper, I explore how viability, meaning the ability of the fetus to survive post-delivery, features in the law regulating abortion provision in England and Wales and the USA. I demonstrate that viability is formalized differently in the criminal law in England and Wales and the USA, such that it is quantified and defined differently. I consider how the law might be applied to the examples of artificial womb technology and anencephalic fetuses. I conclude that there is incoherence in the meaning of viability and argue that it is thus a conceptually illegitimate basis on which to ground abortion regulation. This is both because of the fluidity of the concept and because how it has been thus far understood in the law is unsupported by medical realities. Furthermore, it has the effect of heavily diluting pregnant people’s rights with overly moralistic limitations on access to healthcare.

Are anogenital distance and external female genitalia development changed in neural tube defects? Study in human fetuses

Anogenital distance (AGD), the distance from the anus to the genitals, is a marker of normal genital development. AGD and other biometric parameters of external female genitalia are important as ultrasonographic markers that can determine fetal gender in the first trimester. Neural tube defects are one of the commonest congenital malformations of the central nervous system, with anencephaly being the most severe defect. Female genitalia development and their association with anencephaly have not been previously described. The aim of this study was to compare the biometric parameters of external female genitalia in fetuses with anencephaly and compare it to the parameters of normocephalic fetuses at different gestational ages. We studied 34 female fetuses, 22 normocephalic and 12 anencephalic, aged between 12 and 22 weeks post-conception. The fetuses were placed in the classic lithotomy position and before the fetal dissection, the external female genitalia were photographed with a digital camera. Biometric parameters were recorded and measurements were performed using the Image J software, version 1.46r. Clitoral length and width, clitoris to anus distance, vaginal opening length and width, vaginal opening to labia majora distance, and AGD were measured (Figure). For statistical analysis, the Wilcoxon-Mann-Whitney test was used (p<0.05). We observed a significant difference between some measurements of the groups: the vaginal opening width was significantly greater in anencephalic fetuses and the vaginal opening length, clitoris to anus distance and vaginal opening to labia majora distance were significantly greater in normocephalic fetuses. For the clitoris length and width, we did not find statistical differences. We also did not find statistical significance in AGD between groups (normocephalic 2.32mm [2.46-6.42/SD=2.17] vs. anencephalic 3.93mm [1.15-6.65/SD=1.93]; p=0.499). The linear regression analysis indicated that AGD increased more with age in anencephalic than in the normocephalic group, but without significant differences (r2=0.01677; p<0.318). This article is the first to report the female external genitalia parameters in fetuses with anencephaly. In our study we observed some alterations in biometry of the external genitalia in anencephalic fetuses, with a pattern of morphological reduction in this group. The vaginal opening length, clitoris to anus distance and vaginal opening to labia majora distance were significantly lower in anencephalic fetuses but we did not find statistical significance in clitoris measurements and AGD. Anencephalic fetuses had some alterations in external genitalia development, but the anogenital distances did vary significantly between the groups.

On the way to interrupting the gestation or not: experiences of pregnant women with anencephalic fetuses.

Anencephaly is a malformation characterized by the total or partial absence of the brain, and Brazil records the fourth largest number of births of anencephalic fetuses in the world. Fetal anencephaly is associated with a more significant number of maternal complications. As of 2012, women with anencephalic gestation were empowered with the right to carry the pregnancy to term or terminate it, if they so desired, without any judicial authorization. Objectives: to understand the experiences of women with fetal anencephaly and to identify the determinant factors for interrupting the gestation or not. This is a qualitative study using the Life Narratives method with 12 women over 18 years old diagnosed with an anencephalic fetus, who interrupted gestation or delivery in a public maternity hospital in Rio de Janeiro. Data were collected between June and November 2016, and the process was finalized when the narrative patterns reached progressive saturation from the recurrences. The statements that emerged following floating and in-depth reading were articulated in Narrative Nuclei, and data comparative and comprehensive analysis was performed. The reports brought to light the intense experiences of these women, as well as the weaknesses existing concerning care and the pregnancy termination issue.

Anencephalic fetus with craniospinal rachischisis - Case report

Anencephalic fetus with craniospinal rachischisis - Case report - IJASHNB- Print ISSN No: - 2581-5210 Online ISSN No:- 2581-5229 Article DOI No:- 10.18231/j.ijashnb.2019.032, IP Indian Journal of Anatomy and Surgery of Head, Neck and Brain-IP Indian J Anat Surg Head Neck Brain

COMPARATIVE MICROANATOMY OF ORGANS OF ANENCEPHALIC &amp; NORMAL FETUSES OF DIFFERENT GESTATIONAL AGE GROUPS

23Dec 2019 COMPARATIVE MICROANATOMY OF ORGANS OF ANENCEPHALIC & NORMAL FETUSES OF DIFFERENT GESTATIONAL AGE GROUPS Shilpa K , Sumathi Shekar and Priya Ranganath Assistant professor, Department of anatomy & neuroscience, Trinity school of medicine, Trinity medical science university, Ratho mill, St Vincent & Grenadies, West Indies Associate Professor, Department of anatomy, Bangalore medical college & research institute, Fort, Bangalore 56002, Karnataka Professor & head, Department of anatomy, Bangalore medical college & research institute, Fort, Bangalore 56002, Karnataka