Diagnostic accuracy of intracranial translucency in detecting spina bifida: a systematic review and meta-analysis

Maruotti, Giuseppe Maria; Saccone, Gabriele; D’Antonio, Francesco; Berghella, Vincenzo; Sarno, Lucio; Morlando, Maddalena; Giudicepietro, Antonia; Martinelli, Pasquale

doi:10.1002/pd.4883

Cited by 41 publications

(23 citation statements)

References 33 publications

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“…In our study, IT measurement < 5th percentile was the poorest‐performing parameter in the detection of open spina bifida identifying just over 50% of the cases, which goes in line with a wide range and variety of published data . Performance of IT has been recently evaluated in a systematic review and meta‐analysis including nine studies, three with prospective and six with retrospective design.…”

Section: Discussionmentioning

confidence: 93%

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Cranial sonographic markers of fetal open spina bifida at 11 to 13 weeks of gestation

Wertaschnigg

Ramkrishna²,

Ganesan³

et al. 2019

Prenatal Diagnosis

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Objectives To compare the sonographic signs of spina bifida obtained on axial and sagittal views of the fetal head between 11 and 13+6 weeks of gestation. Methods This was a retrospective study including 27 cases of spina bifida and 1003 randomly selected controls. Indirect markers of spina bifida were evaluated on stored ultrasound images. Intracranial translucency (IT), ratio between the brainstem and the brainstem–occipital bone distance (BS/BSOB), and maxillo‐occipital (MO) line were assessed on sagittal view, whereas biparietal diameter (BPD), BPD to abdominal circumference ratio (BPD/AC), and aqueduct to occipital bone (aqueduct of Sylvius [AoS]) distance were measured on the axial plane. Reference ranges were developed, and cases of spina bifida were examined in relation to the reference range. Results On the sagittal view, detection rates for IT below the fifth percentile, BS/BSOB above the 95th percentile, and an abnormal MO line were 52.3%, 96.3%, and 96.3%, respectively. On the axial view, detection rates for BPD, BPD/AC, and AoS below the fifth percentile were 66.7%, 70.4%, and 77.8%, respectively. Conclusion The MO line and the BS/BSOB ratio appear to be the best indirect ultrasound markers of spina bifida and can be easily obtained during the routine first‐trimester scan.

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Section: Discussionmentioning

confidence: 93%

“…Nonvisualization of IT (seven studies), IT < 5th percentile (one study) and IT < 1st percentile (one study) were the criteria for suspecting of spina bifida. The overall DR was 53.5% (95% CI, 42.4‐64.3) …”

Section: Discussionmentioning

confidence: 93%

Cranial sonographic markers of fetal open spina bifida at 11 to 13 weeks of gestation

Wertaschnigg

Ramkrishna²,

Ganesan³

et al. 2019

Prenatal Diagnosis

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“…Chaoui et al 1,2 were the first to suggest that assessment of the fourth ventricle, also called intracranial translucency, at the time of the 11-13-week ultrasound scan could be a method of early screening for open spina bifida (OSB). Subsequent studies have confirmed this observation [3][4][5] and have also reported an association between other posterior fossa abnormalities and OSB, including increased diameter of the brainstem (BS) and abnormal BS diameter-to-BS-to-occipital-bone distance (BS/BSOB) ratio [6][7][8] , obliteration of the cisterna magna [9][10][11][12][13][14] , and posterior displacement of the aqueduct of Sylvius 15 . These ultrasound features are almost invariably present in first-trimester fetuses with OSB and are thought to be the result of early backward displacement of the posterior brain as a consequence of chronic leakage of cerebrospinal fluid through the spinal defect and hypotension of the cerebral ventricular system.…”

Section: Introductionmentioning

confidence: 83%

Non‐visualization of choroid plexus of fourth ventricle as first‐trimester predictor of posterior fossa anomalies and chromosomal defects

Martínez-Ten¹,

Illescas²,

Adiego³

et al. 2018

Ultrasound in Obstet & Gyne

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Non-visualization of the CP-4V in the first trimester appears to be a strong marker of posterior fossa anomalies and chromosomal defects. Qualitative evaluation of this anatomic structure is simple, feasible and reproducible, and its routine assessment during the first-trimester scan may facilitate the early detection of CNS anomalies and associated fetal aneuploidy. Copyright © 2017 ISUOG. Published by John Wiley & Sons Ltd.

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“…Evaluation of the 4th ventricle, also referred to as intracranial transparency (IT), and examination of the brain stem can result in early detection of open spina bifida in the first-trimester examination [15,16]. In a meta-analysis including more than 21 000 fetuses, a sensitivity of 53.5 % and a specificity of 99.7 % were calculated [17].…”

Section: Early Diagnosis Of Anomaliesmentioning

confidence: 99%

DEGUM, ÖGUM, SGUM and FMF Germany Recommendations for the Implementation of First-Trimester Screening, Detailed Ultrasound, Cell-Free DNA Screening and Diagnostic Procedures

Kozlowski¹,

Burkhardt

Gembruch³

et al. 2018

Ultraschall in Med

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First-trimester screening between 11 + 0 and 13 + 6 weeks with qualified prenatal counseling, detailed ultrasound, biochemical markers and maternal factors has become the basis for decisions about further examinations. It detects numerous structural and genetic anomalies. The inclusion of uterine artery Doppler and PlGF screens for preeclampsia and fetal growth restriction. Low-dose aspirin significantly reduces the prevalence of severe preterm eclampsia. Cut-off values define groups of high, intermediate and low probability. Prenatal counseling uses detection and false-positive rates to work out the individual need profile and the corresponding decision: no further diagnosis/screening - cell-free DNA screening - diagnostic procedure and genetic analysis. In pre-test counseling it must be recognized that the prevalence of trisomy 21, 18 or 13 is low in younger women, as in submicroscopic anomalies in every maternal age. Even with high specificities, the positive predictive values of screening tests for rare anomalies are low. In the general population trisomies and sex chromosome aneuploidies account for approximately 70 % of anomalies recognizable by conventional genetic analysis. Screen positive results of cfDNA tests have to be proven by diagnostic procedure and genetic diagnosis. In cases of inconclusive results a higher rate of genetic anomalies is detected. Procedure-related fetal loss rates after chorionic biopsy and amniocentesis performed by experts are lower than 1 to 2 in 1000. Counseling should include the possible detection of submicroscopic anomalies by comparative genomic hybridization (array-CGH). At present, existing studies about screening for microdeletions and duplications do not provide reliable data to calculate sensitivities, false-positive rates and positive predictive values.

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Diagnostic accuracy of intracranial translucency in detecting spina bifida: a systematic review and meta-analysis

Cited by 41 publications

References 33 publications

Cranial sonographic markers of fetal open spina bifida at 11 to 13 weeks of gestation

Cranial sonographic markers of fetal open spina bifida at 11 to 13 weeks of gestation

Non‐visualization of choroid plexus of fourth ventricle as first‐trimester predictor of posterior fossa anomalies and chromosomal defects

DEGUM, ÖGUM, SGUM and FMF Germany Recommendations for the Implementation of First-Trimester Screening, Detailed Ultrasound, Cell-Free DNA Screening and Diagnostic Procedures

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