Demographic factors and associated anomalies in fetuses with neural tube defects

Introduction Neural tube defects (NTDs) are a group of heterogeneous congenital anomalies of the central nervous system (CNS). Acrania is a non-NTD congenital disorder related to the CNS. It can transform into anencephaly through the acrania–exencephaly–anencephaly sequence (AEAS). In AEAS, the cerebral tissue is not protected and is gradually destroyed due to exposure to the harmful effect of amniotic fluid and mechanical injuries. These lead to exencephaly and then into anencephaly. In contrast to primary anencephaly (NTDs), this type of anencephaly authors suggests calling secondary anencephaly. Objective Analysis of the known prenatal ultrasonography (US) signs associated with AEAS. Simultaneously, the authors propose a new sign in the differentiation of acrania from exencephaly and anencephaly, called the “beret” sign. Methods It is a two-centre retrospective observational study. As part of the study, 4060 US scans were analyzed. Results In 10 cases, the absence of calvarium was diagnosed, allowing recognition of either AEAS stages or primary anencephaly. In 5 cases, cerebral structures were enclosed by an inertial rippled thin membrane, with a smooth outer contour. Between the described membrane and the brain structures, a thin anechoic space corresponding to cerebrospinal fluid was observed. This sign was defined as the “beret” sign. In these cases, acrania was diagnosed. In three cases calvarium was missing. The brain structures had an irregular appearance, did not wave and remained motionless. The outer contour was unequal as if divided into lobes. Amniotic fluid was anechoic. Exencephaly was diagnosed in these cases. In two cases calvarium, brain structures, and meninges were missing. The “frog eyes” sign and slightly echogenic amniotic fluid were visible. In this case, anencephaly was diagnosed. Conclusions The “beret” sign seems to be a promising tool in the diagnosis of acrania. Furthermore, echogenicity of amniotic fluid could be useful during differentiation between primary and secondary anencephaly.

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“…Nevertheless, a large percentage of NTDs is still undiagnosed. In Europe, the prevalence of NTDs stands at 2.3 per 1000 births [ 1 ].…”

Section: Introductionmentioning

confidence: 99%

“…In some societies, relationships of relatives are still common. Thus, both the degree and the ways in which this factor influences the genesis of NTDs are still an interesting field for further research [ 1 ].…”

Section: Introductionmentioning

confidence: 99%

The role of the “beret” sign and other markers in ultrasound diagnostic of the acrania–exencephaly–anencephaly sequence stages

Szkodziak

Krzyżanowski

et al. 2020

Arch Gynecol Obstet

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“…6 A demographic study shows advanced maternal age is a most common predisposing factor for anencephaly; odds ratio of 2.043 and confidence interval 0.880 to 4.741 was estimated. 7 Along with advanced maternal age, consanguinity, autumn winter conception, folic acid, and vitamin B12 deficiency, increasing use of anticonvulsant and antipyretic medicines is considered a risk factor.…”

Section: Introductionmentioning

confidence: 99%

Sonographic Transformation of Acrania to Anencephaly

Bacha¹,

Gilani²,

Manzoor³

et al. 2017

Donald School Journal of Ultrasound in Obstetrics and Gynecology

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Objective To ascertain that acrania can lead to anencephaly Materials and methods We commenced a cross-sectional study for a period of 41 months from 2013 to 2017. During routine ultrasound examination, we observed multiple cases of acrania in second trimester and third trimester. We followed 26 cases who failed to terminate their pregnancies and visited for reexamination. Changes in the brain matter, amniotic fluid volume, and echogenicity of the acrania fetuses were recorded and compared with the previous examination. Development of anencephaly was correlated with maternal age and advancement of gestational age. All the patients were examined transabdominally according to the American Institute of Ultrasound in Medicine (AIUM) guidelines for obstetrical ultrasound. Data were collected from the previous report and recent examination, by evaluating data with the help of IBM Statistical Package for the Social Sciences (SPSS) version 24 package, and the results were summarized. Results Pregnant women with diagnosed acrania fetus visited second time with a lapse of more than 4 weeks and were enrolled with mean age 25.73 ± 8.80. We observed 4 (15.4%) acrania patients developed into anencephaly. Development of anencephaly was observed to be correlated with the advancement of gestational age. It was observed that acrania is more common in below 20 and above 30 age groups. Haziness of amniotic fluid is also observed to be related with acrania. Conclusion Anencephaly could be caused by multiple factors but acrania can lead to anencephaly with continuous exposure of brain matter and meninges to mechanical trauma and chemical activities of the amniotic fluid. Clinical significance To test the hypothesis of acrania to anencephaly and make a roadmap for upcoming researches on association of acrania with physical, environmental, and genetical factors. How to cite this article Bacha R, Gilani SA, Manzoor I. Sonographic Transformation of Acrania to Anencephaly. Donald School J Ultrasound Obstet Gynecol 2017;11(3):189-196.

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“…Conversely, younger maternal age at delivery has been positively associated with CHDs, gastroschisis [171,172], and intestinal atresia [125]. Either older or younger maternal age at delivery has been positively associated with NTDs [10,173].…”

Section: Maternal Factorsmentioning

confidence: 99%

“…Other Factors Seasonality at conception: Many birth defects were observed to have a significant seasonal pattern or variation. Spring conception was observed to be significantly positively associated with gastroschisis [190,191], fall and winter conception was positively associated with CP [173], and summer conception was positively associated with NTDs, CHDs, or CLP [191].…”

Section: Maternal Factorsmentioning

confidence: 99%

Associations between cough medications containing dextromethorphan or guaifenesin and major structural birth defects

Cao¹

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Dextromethorphan and guaifenesin are the main active components in over-thecounter cough medications. Prenatal exposure to dextromethorphan has been shown to be teratogenic in animal models. Data from human studies for either dextromethorphan or guaifenesin are limited and inconclusive. We used data from the population-based National Birth Defects Prevention Study (NBDPS) to examine associations between maternal periconceptional (one month before through three months after conception) use of cough medications containing dextromethorphan, with or without guaifenesin, and isolated neural tube defects (NTDs). We also used NBDPS data to explore associations between such exposures and other isolated major birth defects, as well as associations between maternal periconceptional use of cough medications containing guaifenesin alone and isolated major birth defects. Enrolled cases comprised 19,538 live births, still births, and elective terminations with isolated major birth defects, and enrolled controls comprised 10,200 live births without defects delivered from October 1997 through December 2009. Telephone interview reports of pregnancy exposures, including periconceptional use of cough medications, were obtained from mothers of case and control infants. Two approaches were used to build multivariable models: backward model selection and comparing the change in odds ratios (ORs) by adding each covariable individually into the main effect models. Adjusted ORs (aORs) and 95% confidence intervals (CIs) for maternal periconceptional exposure of cough medications containing dextromethorphan, with or without guaifenesin, or guaifenesin alone, respectively, and 22 types of birth defects were estimated using multivariable logistic iv regression analysis. Applying our first multivariable model building approach, we observed that maternal periconceptional use of dextromethorphan, with or without guaifenesin, was marginally significantly associated with an increased risk of all NTDs combined (aOR=1.7, 95%CI=1.0-2.9), or spina bifida alone (aOR=1.9, 95%CI=1.0-3.5). Applying our second model-building approach confirmed the associations with all NTDs combined and spina bifida alone (aOR==1.9, 95% CI=1.2-3.0 and aOR=2.1, 95% CI=1.2-3.8; respectively). For other isolated birth defects, a positive, marginally significant association was observed for maternal periconceptional use of dextromethorphan, with or without guaifenesin, and cleft lip with or without cleft palate (aOR=1.3, 95%CI=1.0-1.7) applying our first model building approach. Our second model-building approach produced significant associations between such exposure and gastroschisis (aOR=1.8, 95%CI=1.2-2.8). With regard to maternal periconceptional use of cough medications containing guaifenesin alone, we observed marginally significant associations with all NTDs combined (aOR=1.9, 95%CI=1.1-3.5), spina bifida alone (aOR=2.3, 95%CI=1.1-4.4), or anorectal atresia (aOR=1.9, 95%CI=1.0-3.6) applying our first model-building approach. Applying our second model-building approach...

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Demographic factors and associated anomalies in fetuses with neural tube defects

Cited by 6 publications

References 17 publications

The role of the “beret” sign and other markers in ultrasound diagnostic of the acrania–exencephaly–anencephaly sequence stages

The role of the “beret” sign and other markers in ultrasound diagnostic of the acrania–exencephaly–anencephaly sequence stages

Sonographic Transformation of Acrania to Anencephaly

Associations between cough medications containing dextromethorphan or guaifenesin and major structural birth defects

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