Correlation between ultrasound diagnosis and autopsy findings of fetal malformations: about 31 cases

Hamdi, Abdelaziz; Cherni, Abdallah; Gharsa, A; Chajia, A; Chelli, D.

doi:10.1055/s-0036-1583821

Cited by 2 publications

(5 citation statements)

References 0 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…But the appearance of autopsy can verify the lethal manifestation of prenatal ultrasound. A further search of previous literature revealed that prenatal ultrasound and autopsy findings showed complete agreement in 40%–92% cases, and fetal autopsy often detected anomalies that are detectable by ultrasound 46–50 . After combining postmortem and radiological evaluations, the diagnostic yield of SD increased from 40% to 74.5% 40 .…”

Section: Discussionmentioning

confidence: 94%

“…A further search of previous literature revealed that prenatal ultrasound and autopsy findings showed complete agreement in 40%-92% cases, and fetal autopsy often detected anomalies that are detectable by ultrasound. [46][47][48][49][50] After combining postmortem and radiological evaluations, the diagnostic yield of SD increased from 40% to 74.5%. 40 What's more, postmortem examination is important for diagnosis and also to facilitate correct subtyping.…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Prenatal ultrasound findings and prenatal diagnosis of fetal skeletal dysplasia

Li,

Jin,

Liu

et al. 2024

J of Clinical Ultrasound

View full text Add to dashboard Cite

ObjectiveTo analyze the value of prenatal ultrasound and molecular testing in diagnosing fetal skeletal dysplasia (SD).MethodsClinical data, prenatal ultrasound data, and molecular results of pregnant women with fetal SD were collected in the ultrasound department of our clinic from May 2019 to December 2021.ResultsA total of 40 pregnant women with fetal SD were included, with 82.5% exhibiting short limb deformity, followed by 25.0% with central nervous system malformations, 17.50% with facial malformations, 15% with cardiac malformations, and 12.5% with urinary system malformations. The genetic testing positive rate was 70.0% (28/40), with 92.8% (26/28) being single‐gene disorders due to mutations in FGFR3, COL1A1, COL1A2, EVC2, FLNB, LBR, and TRPV4 genes. The most common SD subtypes were osteogenesis imperfecta (OI), thanatophoric dysplasia (TD), and achondroplasia (ACH). The gestational age (GA) at initial diagnosis for TD, OI, and ACH was 16.6, 20.9, and 28.3 weeks, respectively (p < 0.05), with no significant difference in femoral shortening between the three groups (p > 0.05). Of the OI cases, 5 out of 12 had a family history.ConclusionShort limb deformity is the most prevalent phenotype of SD. When fetal SD is suspected, detailed ultrasound screening should be conducted, combined with GA at initial diagnosis, family history, and molecular evidence, to facilitate more accurate diagnosis and enhance prenatal counseling and perinatal management.

show abstract

Section: Discussionmentioning

confidence: 94%

Section: Discussionmentioning

confidence: 99%

Prenatal ultrasound findings and prenatal diagnosis of fetal skeletal dysplasia

Li,

Jin,

Liu

et al. 2024

J of Clinical Ultrasound

View full text Add to dashboard Cite

show abstract

“…Out of 62 articles, eight (13%) articles had a low risk of bias,182–189 45 (72%) articles had some concerns,185 190–234 and nine (15%) articles had a high risk of bias235–243 (figure 2).…”

Section: Resultsmentioning

confidence: 99%

“…In a loss in utero population, results are conflicting with four studies in favour of ultrasound, one borderline favourable and two suggesting a large proportion of partial agreements making ultrasound unfavourable 215 220 228 230 233 243. Another found favour for ultrasound in cases of CNS anomalies but not for somatic tissue anomalies 229…”

Section: Resultsmentioning

confidence: 99%

“…For antenatal ultrasound, the majority of studies had some concerns around the risk of bias,205 208 215 220 228–230 233 while one was at high risk (online supplemental figure 1A). 243 Struksnaes et al contributed highly to the favourability of antenatal ultrasound in a loss in utero population but had a high risk of bias due to conduct of the reference standard in domain 3 of the QUADAS-2 assessment.…”

Section: Resultsmentioning

confidence: 99%

See 1 more Smart Citation

Are non-invasive or minimally invasive autopsy techniques for detecting cause of death in prenates, neonates and infants accurate? A systematic review of diagnostic test accuracy

et al. 2023

View full text Add to dashboard Cite

ObjectivesTo assess the diagnostic accuracy of non-invasive or minimally invasive autopsy techniques in deaths under 1 year of age.DesignThis is a systematic review of diagnostic test accuracy. The protocol is registered on PROSPERO.ParticipantsDeaths from conception to one adjusted year of age.Search methodsMEDLINE (Ovid), EMBASE (Ovid), CINAHL (EBSCO), the Cochrane Library, Scopus and grey literature sources were searched from inception to November 2021.Diagnostic testsNon-invasive or minimally invasive diagnostic tests as an alternative to traditional autopsy.Data collection and analysisStudies were included if participants were under one adjusted year of age, with index tests conducted prior to the reference standard.Data were extracted from eligible studies using piloted forms. Risk of bias was assessed using Quality Assessment of Diagnostic Accuracy Studies-2. A narrative synthesis was conducted following the Synthesis without Meta-Analysis guidelines. Vote counting was used to assess the direction of effect.Main outcome measuresDirection of effect was expressed as percentage of patients per study.FindingsWe included 54 direct evidence studies (68 articles/trials), encompassing 3268 cases and eight index tests. The direction of effect was positive for postmortem ultrasound and antenatal echography, although with varying levels of success. Conversely, the direction of effect was against virtual autopsy. For the remaining tests, the direction of effect was inconclusive.A further 134 indirect evidence studies (135 articles/trials) were included, encompassing 6242 perinatal cases. The addition of these results had minimal impact on the direct findings yet did reveal other techniques, which may be favourable alternatives to autopsy.Seven trial registrations were included but yielded no results.ConclusionsCurrent evidence is insufficient to make firm conclusions about the generalised use of non-invasive or minimally invasive autopsy techniques in relation to all perinatal population groups.PROSPERO registration numberCRD42021223254.

show abstract

Correlation between ultrasound diagnosis and autopsy findings of fetal malformations: about 31 cases

Cited by 2 publications

References 0 publications

Prenatal ultrasound findings and prenatal diagnosis of fetal skeletal dysplasia

Prenatal ultrasound findings and prenatal diagnosis of fetal skeletal dysplasia

Are non-invasive or minimally invasive autopsy techniques for detecting cause of death in prenates, neonates and infants accurate? A systematic review of diagnostic test accuracy

Contact Info

Product

Resources

About