Prenatal Determination of the Upper Lesion Level of Spina Bifida with Three-Dimensional Ultrasound

Büyükkurt, Selim; Binokay, Figen; Seydaoğlu, Gülşah; Güleç, Ümran Küçükgöz; Özgünen, Fatma Tuncay; Evrüke, Cüneyt; Demir, Cansun

doi:10.1159/000341568

Cited by 23 publications

(22 citation statements)

References 30 publications

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“…The prevention of NTDs by folic acid has been heralded as a modern public health success 84. Nearly 40 years ago, Smithells and colleagues found that diets and postpartum blood levels of women who had a pregnancy affected by NTD were mildly deficient for selected micronutrients, including folate 85.…”

Section: Diagnosis Screening and Preventionmentioning

confidence: 99%

“…Subsequently, the MRC randomized clinical trial of NTD recurrence 87, a randomised trial of NTD first occurrence 88, and a number of observational epidemiological studies, all provided evidence that folic acid supplements can prevent many NTD-affected pregnancies. Now, ‘high risk’ women, with a previous history of a NTD-affected pregnancy, are recommended to take 4 mg folic acid while planning a pregnancy, whereas those at low risk are advised to take 0.4 mg 84.…”

Section: Diagnosis Screening and Preventionmentioning

confidence: 99%

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Spina bifida

Copp

Adzick

Chitty

et al. 2015

Nat Rev Dis Primers

482

385

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Spina bifida is a birth defect in which the vertebral column is open (bifid), often with spinal cord involvement. Clinically most significant is myelomeningocele (MMC; open spina bifida) in which the spinal neural tube fails to close during embryonic development. The exposed neural tissue degenerates in utero, resulting in neurological deficit that varies with level of the lesion. Occurring in around 1 per 1000 births worldwide, MMC is one of the commonest congenital malformations, yet its causation is largely unknown. The genetic component of MMC is estimated at 60-70% but few genes have yet been identified, despite much information from mouse models. Non-genetic risk factors include reduced folate intake, maternal anticonvulsant therapy, diabetes mellitus and obesity. Primary prevention by peri-conceptional folic acid has been demonstrated in clinical trials, leading to food fortification programmes in many countries. Prenatal diagnosis is by ultrasound enabling termination of pregnancy. Individuals who survive to birth have their lesions closed surgically, with subsequent management of associated defects, including the Chiari II malformation, hydrocephalus, and urological and orthopaedic sequelae. Fetal surgical repair of MMC has been associated with improved early neurological outcome compared with postnatal operation. MMC affects quality of life during childhood, adolescence, and into adulthood, posing a challenge for individuals, families and society as a whole.

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Section: Diagnosis Screening and Preventionmentioning

confidence: 99%

Section: Diagnosis Screening and Preventionmentioning

confidence: 99%

Spina bifida

Copp

Adzick

Chitty

et al. 2015

Nat Rev Dis Primers

482

385

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show abstract

“…The causes of spina bifida are multifactorial, including genetic predisposition, environmental factors and maternal conditions [8]. In the past the diagnosis of open spina bifida was done prenatally by maternal serum alphafetoprotein (AFP) screening [9,10] combined with ultrasound diagnostic criteria [11,12,13,14]. In the last few years antenatal diagnosis is almost exclusively based upon sonographic findings [15].…”

Section: Introductionmentioning

confidence: 99%

Prenatal Diagnosis of Open Spina Bifida in Emilia-Romagna

Ghi

Cocchi²,

Conti³

et al. 2015

Fetal Diagn Ther

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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.

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“…Finally, 2D ultrasound was used initially for all anatomical ultrasounds, with 3D ultrasound as needed. While the benefit of 3D ultrasound has been shown in suspicious cases, this study did not evaluate routine 3D anatomical surveys and we cannot recommend this based on our study [18]. …”

Section: Discussionmentioning

confidence: 97%

Is MSAFP Still a Useful Test for Detecting Open Neural Tube Defects and Ventral Wall Defects in the Era of First-Trimester and Early Second-Trimester Fetal Anatomical Ultrasounds?

Roman

Gupta

Fox³

et al. 2014

Fetal Diagn Ther

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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.

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Prenatal Determination of the Upper Lesion Level of Spina Bifida with Three-Dimensional Ultrasound

Cited by 23 publications

References 30 publications

Spina bifida

Spina bifida

Prenatal Diagnosis of Open Spina Bifida in Emilia-Romagna

Is MSAFP Still a Useful Test for Detecting Open Neural Tube Defects and Ventral Wall Defects in the Era of First-Trimester and Early Second-Trimester Fetal Anatomical Ultrasounds?

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