Prenatal Diagnosis of Open Spina Bifida in Emilia-Romagna

2015 ◽  
Vol 37 (4) ◽  
pp. 301-304 ◽  
Author(s):  
Tullio Ghi ◽  
Guido Cocchi ◽  
Letizia Conti ◽  
Giuseppina Pacella ◽  
Aly Youssef ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
General Population ◽  
Spina Bifida ◽  
Great Proportion ◽  
Pregnancy Outcome ◽  
Northern Italy ◽  
Study Group ◽  
Wide Region ◽  
Emilia Romagna Region ◽  
Open Spina Bifida

Objective: To report recent data on the epidemiology of pregnancies affected by open spina bifida in the Emilia-Romagna region of Italy. Methods: All cases of open spina bifida diagnosed in the Emilia-Romagna region between 2001 and 2011 and reported to the IMER regional registry were included in the study group. The pregnancy outcome was retrospectively assessed. Results: In the study period out of 390,978 babies born in Emilia-Romagna 126 cases of open spina bifida were reported to the IMER registry, resulting in a global prevalence of 3.2 per 10,000 births. Prenatal diagnosis was achieved in the vast majority of these cases (105/126; 83.3%) and in a great proportion of those women (85/105; 80.9%) who opted for termination of pregnancy. Conclusions: In a wide region of northern Italy where ultrasound anomaly scan is routinely offered to the general population, the vast majority of cases of open spina bifida are diagnosed antenatally and terminated electively.

Impact of introduction of mid-trimester scan on pregnancy outcome of open spina bifida in The Netherlands

2014 ◽  
Vol 43 (5) ◽  
pp. 553-556 ◽  
Author(s):  
J. H. Fleurke-Rozema ◽  
T. A. Vogel ◽  
B. J. Voskamp ◽  
E. Pajkrt ◽  
P. P. van den Berg ◽  
...  
Keyword(s):  
Spina Bifida ◽  
The Netherlands ◽  
Pregnancy Outcome ◽  
Open Spina Bifida

Prenatal diagnosis of open spina bifida by MRI and ultrasonography

1993 ◽  
Vol 15 (1) ◽  
pp. 75-78 ◽  
Author(s):  
Toshinori Nakahara ◽  
Tohru Uozumi ◽  
Shuji Monden ◽  
Zainal Muttaqin ◽  
Kaoru Kurisu ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Spina Bifida ◽  
Open Spina Bifida

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 Neurone Specific Enolase in Amniotic Fluid: A Potential Marker of Anencephaly

1988 ◽  
Vol 25 (1) ◽  
pp. 85-88 ◽  
Author(s):  
K Spencer ◽  
P Carpenter
Keyword(s):  
Prenatal Diagnosis ◽  
Spina Bifida ◽  
Amniotic Fluid ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Normal Values ◽  
Potential Marker ◽  
Neuronal Proteins ◽  
Non Gaussian ◽  
Open Spina Bifida

Normal values for neurone specific enolase in amniotic fluid have been found to follow a non gaussian distribution with a 1–99 centile range of 1·10–4·32 μg/L. Neurone specific enolase levels have been shown to be raised in the amniotic fluid of pregnancies complicated by anencephaly, although not those complicated by open spina bifida. Neurone specific enolase measured by radioimmunoassay is capable of totally discriminating between normal pregnancies and those complicated by anencephaly. The study demonstrates the possible value of investigating other neuronal proteins which may find value as adjuncts to amniotic fluid Alpha fetoprotein levels in the prenatal diagnosis of Neural Tube Defects.

Prevalence of Reading Difficulties in 9- to 10-Year Old Children in Sweden Born With Cleft Palate

2021 ◽  
pp. 105566562110132
Author(s):  
Justin Parry Weinfeld ◽  
Jakob Åsberg Johnels ◽  
Christina Persson
Keyword(s):  
General Population ◽  
Cleft Palate ◽  
Cleft Lip ◽  
Reading Difficulties ◽  
Learning Problems ◽  
Study Group ◽  
Cross Sectional ◽  
Parental Questionnaire ◽  
Background Data ◽  
Cross Sectional Design

Objective: To investigate the prevalence of reading difficulties in children born with cleft palate at ages 9 and 10 in Sweden. Design: Using a cross-sectional design, a parental questionnaire assessing dyslexia-like reading difficulties (Short Dyslexia Scale, SDS) was administered together with separate questions regarding background data. Participants: Families with a child born with overt cleft palate with or without cleft lip in 4 regions of Sweden. A total of 245 families were approached of which 138 families responded. Data from 136 (56%) were complete with information on cleft type and could be analyzed. Results: Twenty-two percent (95% CI, 15-30) of the whole study group displayed risk for dyslexic reading difficulties on the SDS corresponding to the 7th to 10th percentiles in the population. Children with cleft palate only had a significantly higher prevalence of reading difficulties (37%) compared to children with unilateral cleft palate (19%) and bilateral cleft palate (10%). The frequency of reading difficulties in participants with comorbidity was 32%. Among a subgroup with reported comorbidity in areas of attention, language, and learning problems, there was a 2.5 times higher risk of reading disability compared to participants without this reported comorbidity. Conclusion: The prevalence of reading difficulties in the cleft palate population was higher than in the general population. Results showed that co-occurring difficulties were common in the cleft group and that reading difficulties often appear together with other, co-occurring neurodevelopmental difficulties.

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
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