Accuracy of qualitative and quantitative cranial ultrasonographic markers in first‐trimester screening for open spina bifida and other posterior brain defects: a systematic review and meta‐analysis

Macé, Pierre; Mancini, Julien; Gorincour, G.; Quarello, E.

doi:10.1111/1471-0528.16530

Cited by 8 publications

(4 citation statements)

References 54 publications

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“…The present p.Lys56Serfs*6 variant is reported in 16 heterozygous carriers in the GnomAD database. A review of prenatal ultrasounds does not reveal any early onset signs suggesting a Joubert syndrome, such as enlargement of the fourth ventricle and cisterna magna and non‐visualization of the choroid plexus 6 . Based on the application of ACMG criteria, the CSPP1 truncating variant is a likely pathogenic/pathogenic variant; however, its relevance to the fetus's phenotype is uncertain.…”

Section: Discussionmentioning

confidence: 99%

Early prenatal diagnosis of causative homozygous variants in ASCC1 in a fetus with cystic hygroma and additional homozygous variants of unknown significance associated with a neurological phenotype not visible in early gestation: Dual diagnosis or not?

Favier,

Delanne,

Gorincour

et al. 2024

Prenatal Diagnosis

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A consanguineous couple was referred at 10 weeks of gestation (WG) for prenatal genetic investigations due to isolated cystic hygroma. Prenatal trio exome sequencing identified causative homozygous truncating variants in ASCC1 previously implicated in spinal muscular atrophy with congenital bone fractures. Prenatal manifestations in ASCC1 can usually include hydramnios, fetal hypo‐/akinesia, arthrogryposis, contractures and limb deformities, hydrops fetalis and cystic hygroma. An additional truncating variant was identified in CSPP1 associated with Joubert syndrome. Presentations in CSPP1 include cerebellar and brainstem malformations with vermis hypoplasia and molar tooth sign, difficult to visualize in early gestation. A second pregnancy was marked by the recurrence of isolated increased nuchal translucency at 10 + 2 WG. Sanger prenatal diagnosis targeted on ASCC1 and CSPP1 variants showed the presence of the homozygous familial ASCC1 variant. In this case, prenatal exome sequencing analysis is subject to a partial ASCC1 phenotype and an undetectable CSPP1 phenotype at 10 weeks of gestation. As CSPP1 contribution is unclear or speculative to a potentially later in pregnancy or postnatal phenotype, it is mentioned as a variant of uncertain significance. The detection of pathogenic or likely pathogenic variants involved in severe disorders but without phenotype‐genotype correlation because the pregnancy is in the early stages or due to prenatally undetectable phenotypes, will encourage the clinical community to define future practices in molecular prenatal reporting.

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Section: Discussionmentioning

confidence: 99%

Early prenatal diagnosis of causative homozygous variants in ASCC1 in a fetus with cystic hygroma and additional homozygous variants of unknown significance associated with a neurological phenotype not visible in early gestation: Dual diagnosis or not?

Favier,

Delanne,

Gorincour

et al. 2024

Prenatal Diagnosis

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“…The metaanalysis by Rasmussenet al 16 reported that maternal obesity is associated with an increased risk of an NTD-affected pregnancy. A more recent meta-analysis by Zhang et al 17 suggested that maternal periconceptional obesity may be associated with an increased risk for spina bifida. Maternal underweight may be associated with increased risk for anencephaly.…”

Section: Discussionmentioning

confidence: 99%

Comparative study between 1st and 2nd trimester screening for neural tube defects using US markers and maternal serum alpha fetoportein

Ahmed

Sabry

El-Azeem³

2022

ijhs

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Background; Neural tube defects, the commonest central nervous system congenital anomalies, are a heterogeneous group of malformations resulting from failure of normal neural tube closure. Aim and objectives; to assess the potential value of combined maternal serum alpha-fetoprotein and ultrasound markers at 11-13weeks of gestation in early screening for fetal neural tube defects in comparison to the standard second trimester screening of neural tube defects. Subjects and methods; This prospective study will be conducted at the Prenatal Diagnosis and Fetal Medicine Department – National Research Centre and Obstetrics and Gynecology Department in Kasr Al Ainy Teaching Hospital. Result; Number of patients with MSAFP ≥ 2.0 MoM in the study population was 50 (25%). Number of patients with MSAFP < 2.0 MoM in the study population was 150 (75%). Conclusion; Combined maternal serum alpha-fetoprotein and ultrasound markers at 11-13 weeks of gestation can be used as early screening for fetal neural tube defects as well as the standard second trimester screening of neural tube defects, the second trimester ultrasound is more sensitive than that of the first trimester for the diagnoses of neural tube defects.

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“…These anomalies have traditionally been considered challenging to diagnose early in gestation, and it should be acknowledged that the use of a detailed first-trimester protocol to improve detection requires a high level of sonographer skill, the availability of high-resolution ultrasound equipment and appropriate allocation of time. Certainly, the role of sonographic markers in helping to identify at-risk fetuses should be acknowledged and merits further work, for example supporting the detailed examination of the posterior fossa for spina bifida 38 and the evaluation of multiple views of the fetal face for facial clefts. Most studies (n = 39) used a combination of TAS and TVS, making a meaningful comparison against those using only TAS (n = 9) difficult (Table S4).…”

Section: Factors Impacting Screening Performancementioning

confidence: 99%

Detection of non‐cardiac fetal abnormalities on ultrasound at 11–14 weeks: systematic review and meta‐analysis

Karim,

Di Mascio,

Roberts

et al. 2024

Ultrasound in Obstet & Gyne

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ObjectivesTo assess diagnostic accuracy of 2D ultrasound at 11‐14 weeks gestation as a screening test for individual fetal anomalies and identify screening factors impacting detection.MethodsSystematic review and meta‐analysis, developed and registered with PROSPERO (CRD42018111781). MEDLINE, EMBASE, Web of Science Core Collection and The Cochrane Library) were searched for studies evaluating the diagnostic accuracy of screening for 16 pre‐specified, non‐cardiac, congenital anomalies considered to be of interest to the early anomaly scan. We included prospective and retrospective studies from any healthcare setting and low risk, mixed risk and unselected populations. The reference standard was the detection of an anomaly on postnatal or post‐mortem examination. Data were extracted to populate 2 x 2 tables and meta‐analysis (random‐effects model) undertaken to determine the diagnostic accuracy of screening for the pre‐specified anomalies (individually and as a composite). Secondary analyses were performed to determine the impact of (1) imaging protocol (2) ultrasound modality (3) publication year and (4) index of sonographer suspicion at time of scan. Post‐hoc secondary analysis was conducted to assess performance for studies from 2010. Risk of bias and quality assessment was undertaken for included studies using the Quality Assessment of Diagnostic Accuracy Studies (QUADAS‐2).ResultsFrom 5684 citations, 202 papers were identified as eligible and reviewed, resulting in the inclusion of 526,322 fetuses (52 studies) of which 2,399 were affected by one or more of the 16 anomalies. Individual anomalies were not equally amenable to detection on first trimester ultrasound ranging from high (>80%) detection rates for severe conditions including acrania (98%), gastroschisis (96%) and exomphalos (95%) and holoprosencephaly (88%); they were lower for open spina bifida (69%), lower urinary tract obstruction (66%) lethal skeletal dysplasias (57%) and limb reduction defects (50%) and below 50% for facial clefts (43%), polydactyly (40%) and congenital diaphragmatic hernia (38). Conditions with low (<30%) detection rates included bilateral renal agenesis (25%), closed spina bifida (21%), isolated cleft lip only (14%) and talipes (11%). Specificity was >99% for all anomalies. Secondary analysis showed improvement of detection with publication year, and that the use of imaging protocols had a statistically significant impact on screening performance (p<0.0001).ConclusionsAccurate detection of congenital anomalies using first trimester ultrasound is feasible. In this study we have determined screening characteristics for individual anomalies and have shown that detection rates and false positive rates are dependent on the type of anomaly. The use of a standardised protocol allows diagnostic performance to be maximised, and this particularly enhances screening performance for the detection of spina bifida, facial clefts and limb reduction defects. Highlighting the types of anomalies amenable to diagnosis and determining favourable screening test factors can support the development of first‐trimester anomaly screening programs.This article is protected by copyright. All rights reserved.

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Accuracy of qualitative and quantitative cranial ultrasonographic markers in first‐trimester screening for open spina bifida and other posterior brain defects: a systematic review and meta‐analysis

Cited by 8 publications

References 54 publications

Early prenatal diagnosis of causative homozygous variants in ASCC1 in a fetus with cystic hygroma and additional homozygous variants of unknown significance associated with a neurological phenotype not visible in early gestation: Dual diagnosis or not?

Early prenatal diagnosis of causative homozygous variants in ASCC1 in a fetus with cystic hygroma and additional homozygous variants of unknown significance associated with a neurological phenotype not visible in early gestation: Dual diagnosis or not?

Comparative study between 1st and 2nd trimester screening for neural tube defects using US markers and maternal serum alpha fetoportein

Detection of non‐cardiac fetal abnormalities on ultrasound at 11–14 weeks: systematic review and meta‐analysis

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