Prenatal diagnosis of spina bifida aperta after first-trimester valproate exposure

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 ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Spina Bifida ◽  
First Trimester ◽  
Spina Bifida Aperta

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 ◽  
...  
Keyword(s):  
Folic Acid ◽  
Environmental Factors ◽  
Spina Bifida ◽  
Neural Tube ◽  
Maternal Obesity ◽  
First Trimester ◽  
Developed Countries ◽  
Maternal Serum ◽  
Ultrasound Screening ◽  
Spina Bifida Aperta

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.

Prenatal diagnosis of rare form of chromosomal abnormality: double trisomy 48,XXX,+18 in the first trimester in association with spina bifida

2020 ◽  
Author(s):  
K.K. Otaryan , M.A. Kolyshkina , Y.B. Aninyan et all
Keyword(s):  
Prenatal Diagnosis ◽  
Spina Bifida ◽  
Neural Tube ◽  
Neural Tube Defect ◽  
Chromosomal Abnormality ◽  
First Trimester ◽  
Termination Of Pregnancy ◽  
Rare Form ◽  
Double Trisomy ◽  
Chorion Villus

The case of prenatal diagnosis of neural tube defect at 11+5 weeks of gestation is presented. Chorion villus sampling performed. Karyotyping revealed double trisomy (48,XXX,+18). Termination of pregnancy was performed at 13 weeks of gestation.

Prenatal Diagnosis and Patient Preferences in Patients with Neural Tube Defects around the Advent of Fetal Surgery in Belgium and Holland

2014 ◽  
Vol 37 (3) ◽  
pp. 226-234 ◽  
Author(s):  
Céline Ovaere ◽  
Alex Eggink ◽  
Jute Richter ◽  
Titia E. Cohen-Overbeek ◽  
Frank Van Calenbergh ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Spina Bifida ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Fetal Surgery ◽  
Training Material ◽  
Spinal Lesions ◽  
Spina Bifida Aperta ◽  
Prenatal Management ◽  
Open Spina Bifida

Introduction: We review the characteristics and prenatal choices of patients recently evaluated for neural tube defects (NTD) at two tertiary units. The prenatal diagnosis of NTD allows parents to consider all prenatal options. In selected cases of spina bifida aperta this also includes fetal surgery, which we started offering after combined ‘in-house' and ‘exported' training. Material and Methods: This is a retrospective review of prospectively collected data on NTD diagnosed over the last 8 years and recent fetal surgery referrals. Results: A total of 167 patients were referred for assessment at a median of 19 weeks. Cranial lesions were diagnosed significantly earlier than spinal lesions. Of the open spinal lesions, 77% were isolated. Of these, 22% were managed expectantly and 1 (1%) had fetal surgery. There was no correlation between parental decisions on prenatal management with disease-specific severity markers. We had 14 fetal surgery referrals, all but 1 from beyond our typical referral area; 6 of the assessed patients were operated on, 4 were expectantly managed and 4 requested termination of pregnancy (TOP). These pregnancy outcomes were in the expected range. Discussion: Open spina bifida is mainly diagnosed in the second trimester and 76% of subjects request TOP, irrespective of the severity indicators. The number of local patients considering fetal surgery is low.

scholarly journals Ultrasound and magnetic resonance imaging in the prenatal diagnosis of open spina bifida

2018 ◽  
Vol 20 (2) ◽  
pp. 221 ◽  
Author(s):  
Romeo Micu ◽  
Anca Lucia Chicea ◽  
Dan Georgian Bratu ◽  
Paula Nita ◽  
Georgiana Nemeti ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Prenatal Diagnosis ◽  
Magnetic Resonance ◽  
Spina Bifida ◽  
Three Dimensional ◽  
Specific Information ◽  
Resonance Imaging ◽  
Imaging Tool ◽  
Spina Bifida Aperta ◽  
Open Spina Bifida

Open spina bifida, also known as spina bifida aperta is a neural tube defect involving the lack of closure of vertebral arches and associated meninges and/or spinal cord abnormalities.Ultrasound examination is the gold standard for the diagnosis of spina bifida aperta. It represents the main imaging tool used to ascertain this diagnosis early in gestation. Three-dimensional ultrasound is necessary to detect the level and the size of the defect. Magnetic resonance imaging (MRI) represents a more sensitive tool, giving specific information of the defect and associated anomalies, playing an important role in ruling out differential diagnosis. Due to the advent of MRI use, it is possible today to achieve in utero treatment of fetuses with this pathology. The aim of the current review is to provide an update of literature regarding the role of ultrasound and MRI in the prenatal diagnosis of spina bifida aperta.

scholarly journals Open Neural Tube Defects: A Case Presentation of 30-year-old Secundigravida with Spina Bifida of the Fetus

2021 ◽  
Vol 4 (1) ◽  
pp. 411-417
Author(s):  
Anzhel S ◽  
Kovachev E ◽  
Tonchev AB ◽  
Georgiev B ◽  
Yaneva G ◽  
...  
Keyword(s):  
Cerebrospinal Fluid ◽  
Folic Acid ◽  
Spina Bifida ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
First Trimester ◽  
Folic Acid Supplementation ◽  
Patient Counseling ◽  
Case Presentation ◽  
Spina Bifida Aperta

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.

Detection of spina bifida in the first trimester of gestation in association with triploidy

2017 ◽  
Author(s):  
K.K. Otaryan , C.G. Gagaev
Keyword(s):  
Spina Bifida ◽  
Early Detection ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
First Trimester ◽  
Termination Of Pregnancy ◽  
Diagnostic Tools ◽  
Prenatal Detection ◽  
Post Abortion

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.

Prenatal Diagnosis of Double Trisomy 48,XXX,+18 in the First Trimester

2005 ◽  
Vol 24 (5) ◽  
pp. 717-719 ◽  
Author(s):  
Victor Dezerega ◽  
Cecilia Be ◽  
Amy E. Wong ◽  
Rafael Silva ◽  
Waldo Sepulveda
Keyword(s):  
Prenatal Diagnosis ◽  
First Trimester ◽  
Double Trisomy
Sign in / Sign up

Export Citation Format

Share Document