scholarly journals SPINA BIFIDA;

2016 ◽  
Vol 23 (08) ◽  
pp. 893-901
Author(s):  
Muhammad Arslan Iqbal ◽  
Muhammad Zohaib Chaudhary ◽  
Muhammad Waseem Abbas ◽  
Faiza Maqsood ◽  
Fiza Fatima ◽  
...  

Spina Bifida (SB) is a neural tube defect (NTD) due defect in neural tube,characterized by incomplete closure of spinal column. Occurrence of SB varies in differentcountries. In developed countries, it is about 0.4 per 1000 births, in US 0.7 per 1000 births and inAsia 1.9 per 1000 births. SB mostly occurs during first trimester of pregnancy. Variants of SB areSpina bifida Occulata, Spina bifida Cystica [meningocele and myelomeningocele], Spina bifidaManifesta and Spina bifida Aperta. Among these myelomeningocele is the most common type.Causing agents of SB may be genetic, non-genetic or environmental factors. Non-genetic factorsinvolve anti-convulsant drugs, anti-epileptic drugs, maternal obesity, maternal diabetes andpoor nutritional status (folate and vitamin B12 deficiency). Environmental factors are pesticides,nitrated compounds and air pollution. Common manifestations are brain malformations (ArnoldChiari II malformation and hydrocephalus), spinal cord abnormalities, latex allergy, breathingproblems, urological abnormalities and cardio-metabolic dysfunction. Diagnostic techniquesfor Spina bifida are ultrasound screening, Magnetic Resonance Imagining (MRI), amniocentesisand maternal serum alpha-fetoprotein. To prevent the risk of Spina bifida, it is recommended forthe mother to use 0.4mg of folic acid per day or in mothers affected with multiple pregnanciesrecommended dose of folic acid is 4mg per day.

2021 ◽  
Vol 4 (1) ◽  
pp. 411-417
Author(s):  
Anzhel S ◽  
Kovachev E ◽  
Tonchev AB ◽  
Georgiev B ◽  
Yaneva G ◽  
...  

Spina bifida is a neural tube defect that occurs in about 1 in 1,500 pregnancies. Open spinal defects are associated with paralysis, incontinence and hydrocephalus requiring postnatal shunting of the cerebrospinal fluid. Neural tube defects are preventable through preconceptional folic acid supplementation. Occasionally, the diagnosis is made during routine anomaly scan at 18-20 weeks of gestation, as the earliest signs of the anomaly can be seen at the end of first trimester. The information provided by ultrasound plays a crucial role in patient counseling and pregnancy management. The authors report a case of prenatal diagnosis of spina bifida aperta with focus on detailed ultrasound presentation and difficulties in consulting in relation to the prognosis for the newborns.


2014 ◽  
Vol 37 (3) ◽  
pp. 206-210 ◽  
Author(s):  
Ashley S. Roman ◽  
Simi Gupta ◽  
Nathan S. Fox ◽  
Daniel Saltzman ◽  
Chad K. Klauser ◽  
...  

Introduction: To evaluate whether maternal serum α-fetoprotein (MSAFP) improves the detection rate for open neural tube defects (ONTDs) and ventral wall defects (VWD) in patients undergoing first-trimester and early second-trimester fetal anatomical survey. Material and Methods: A cohort of women undergoing screening between 2005 and 2012 was identified. All patients were offered an ultrasound at between 11 weeks and 13 weeks and 6 days of gestational age for nuchal translucency/fetal anatomy followed by an early second-trimester ultrasound at between 15 weeks and 17 weeks and 6 days of gestational age for fetal anatomy and MSAFP screening. All cases of ONTD and VWD were identified via query of billing and reporting software. Sensitivity and specificity for detection of ONTD/VWD were calculated, and groups were compared using the Fisher exact test, with p < 0.05 as significance. Results: A total of 23,790 women met the criteria for inclusion. Overall, 15 cases of ONTD and 17 cases of VWD were identified; 100% of cases were diagnosed by ultrasound prior to 18 weeks' gestation; none were diagnosed via MSAFP screening (p < 0.001). First-trimester and early second-trimester ultrasound had 100% sensitivity and 100% specificity for diagnosing ONTD/VWD. Discussion: Ultrasound for fetal anatomy during the first and early second trimester detected 100% of ONTD/VWD in our population. MSAFP is not useful as a screening tool for ONTD and VWD in the setting of this ultrasound screening protocol.


Author(s):  
K.K. Otaryan , C.G. Gagaev

The case of prenatal detection of spina bifida at 12+3 weeks of gestation is described. Termination of pregnancy was performed at 13+3 weeks. Post-abortion karyotyping revealed triploidy (69XXX). Diagnostic tools for early detection of neural tube defects in the 1st trimester of gestation and subsequent appropriate management of pregnancy are discussed.


1992 ◽  
Vol 12 (11) ◽  
pp. 893-897 ◽  
Author(s):  
Juliette G. C. Omtzigt ◽  
Frans J. Los ◽  
Adriana M. Hagenaars ◽  
Patricia A. Stewart ◽  
Eva S. Sachs ◽  
...  

PEDIATRICS ◽  
1982 ◽  
Vol 70 (4) ◽  
pp. 648-650
Author(s):  
K. M. Laurence

It is generally agreed that neural tube defects (NTD) have a multifactorial etiology when genetic factors render the developing fetus susceptible to intrauterine environmental factors acting during the fourth week of gestation to interfere with the orderly closure of the neural tube.1 As there is little likelihood that anything can be done about the genetic background, primary prevention would therefore be dependent on eliminating these factors from the environment or avoiding them. My intention here is to enlarge on some aspects of primary prevention of NTD as outlined by Smithells in an earlier issue (Pediatrics 69:498, 1982).2 One environmental factor, poor maternal nutrition and, more particularly, folic acid deficiency seems now to have been identified, but there are almost certainly a number of others.


Author(s):  
Anna Clebone

Myelomeningocele, also known as spina bifida aperta (often shortened to the nonspecific name “spina bifida”) is a congenital disorder of the spine. In infants with a myelomeningocele, the neural tube has not closed, and the vertebral arches have not fused during development, leading to spinal cord and meningeal herniation through the skin. Because of the high potential for injury and infection of the exposed spinal cord, which could lead to lifetime disability, these lesions are typically repaired within 24 to 48 hours after birth. A myelomeningocele occurs before day 28 of human fetal development and is an abnormality in which the posterior neural tube closes incompletely. The outcome is a vertebral column deformity, through which the meningeal-lined sac herniates. After the bony defect is created, the hypothesized mechanism of meningeal herniation is that the pulsations of cerebrospinal fluid act progressively to balloon out the spinal cord. If the sac is filled with spinal nerves or the spinal cord, it is known as a myelomeningocele; if the sac is empty, it is called a meningocele.


Nutrients ◽  
2019 ◽  
Vol 11 (10) ◽  
pp. 2347 ◽  
Author(s):  
Ha ◽  
Zhao ◽  
Binns ◽  
Pham ◽  
Nguyen ◽  
...  

Periconceptional folic acid (FA) supplementation is recommended to prevent neural tube defects (NTDs), but little information is known about its use in Vietnam. It is important that FA supplements start to be taken when planning a pregnancy and continued through the first trimester to prevent NTDs, as the neural tube closes in the first month of pregnancy. However, FA supplementation in Vietnam is usually recommended to commence from the first antenatal visit, which is usually at 16 weeks, and very few women take FA before their first visit. This multicenter study aimed to determine the prevalence of FA supplement use and associated maternal characteristics in Vietnam. FA supplementation was assessed in 2030 singleton pregnant women between 2015 and 2016. In total, 654 (32.2%) women reported taking either supplements containing FA alone or multivitamins containing FA, and 505 (24.9%) reported correctly taking supplements containing FA alone. Women who were aged 30 years or over, had low education levels, had formal employment, and whose current pregnancy was first or unplanned were less likely to supplement with FA. Education programs are needed to encourage FA supplementation when contemplating pregnancy.


2001 ◽  
Vol 9 (6) ◽  
pp. 404-408 ◽  
Author(s):  
Marko Niemimaa ◽  
Mikko Suonpää ◽  
Antti Perheentupa ◽  
Maija Seppälä ◽  
Seppo Heinonen ◽  
...  

2021 ◽  
pp. 50-53
Author(s):  
A. Yu. Romanov ◽  
N. V. Dolgushina

Folic acid (vitamin B9) is a water-soluble vitamin, essential for the growth and development of the blood and immune systems. Its deficiency is a significant risk factor for fetal neural tube defects. The widespread implementation of drugs and food supplements containing folic acid in preparation for pregnancy and in its first trimester has significantly reduced the incidence of fetal neural tube defects.According to current recommendations, taking 0.4 mg of folic acid per day is indicated within 6 months before conception and in the first trimester of pregnancy. Taking folic acid at a dosage of 4 mg is indicated for patients with a history of a fetal neural tube defect.There are also other risk factors for developing fetal neural tube defects. These include family history, obesity, malabsorption syndrome, folate cycle gene polymorphisms, smoking, drug use, diabetes mellitus (pre-gestational), and other chronic diseases. Determination of the required dosage of folic acid in these categories of patients still requires discussion and clinical trials. Also, folic acid intake is associated with a decreased risk of esophageal atresia, conotruncal heart disease, cleft palate, urinary tract malformations, and omphalocele, reduces the incidence of some behavioral anomalies, in particular, hyperactivity, the need for planning a pregnancy.


Author(s):  
Qianqian Zhang ◽  
Chen Zhang ◽  
Yi Wang ◽  
Jiuru Zhao ◽  
Haiyuan Li ◽  
...  

Abstract Purpose To evaluate the effects of the association between first trimester vitamin D (VitD) concentrations and increased prepregnancy body mass index (BMI) on early fetal growth restriction (FGR). Methods This retrospective cohort study included 15,651 women with singleton pregnancy who delivered at the International Peace Maternity and Child Health Hospital between January 2015 and November 2016. Women were classified in two groups based on their serum 25(OH)D vitamin levels status: VitD sufficient (SUFF) group and VitD insufficient or deficient (INSUFF/DEF). The cut-off point for vit D concentration was 50.00 nmol/L. Comparisons were made between women with normal prepregnancy body weight (BMI 18.5–23.9 kg/m2) and overweight and obese (OWO) women (BMI > 24.0 kg/m2). Early FGR was defined as first-trimester gestational age-adjusted crown-rump length (CRL) in the lowest 20th centile of the population. Multivariate logistic regression was used to evaluate the association between maternal serum 25(OH)D levels and prepregnancy BMI with first trimester CRL and early FGR. Results In VitD INSUFF/DEF group, the first trimester CRL was decreased (P = 0.005), and the risk of early FGR was increased by 13% (95% CI 1.04–1.24, P = 0.004) compared to the VitD SUFF group. In OWO group, the first trimester CRL was also significantly decreased (P < 0.0001), and the risk of early FGR was significantly increased by 58% (95% CI 1.40–1.78, P < 0.001) compared with normal weight group. Furthermore, there was a significant combined effect of maternal VitD concentrations and OWO on CRL (P for interaction = 0.02) and the risk of early FGR (P for interaction = 0.07). Conclusion Sufficient first trimester serum 25(OH)D concentration was a protective factor for early fetal growth, especially among OWO mothers. Chinese Clinical Trial Registry (Registration number: ChiCTR1900027447 with date of registration on November 13, 2019-retrospectively registered).


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