Clubfeet and associated abnormalities on fetal magnetic resonance imaging

Nemec, Ursula; Nemec, Stefan F.; Kasprian, Gregor; Brugger, Peter C.; Bettelheim, Dieter; Wadhawan, Isha; Kolb, Alexander; Graham, John M.; Rimoin, David L.; Prayer, Daniela

doi:10.1002/pd.3911

Cited by 21 publications

(28 citation statements)

References 21 publications

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“…However, when analyzing the incidence of abnormal karyotype following either genotypic or phenotypic assessment after birth, the rate of chromosomal anomalies was 2.3% (95% CI 1.2%‐3.6%). More importantly, when only including studies published in the last decade, the incidence of abnormal karyotype was 1.5% (95% CI 0.5%‐3.0%, I 2 0%; 8 studies, 4/339 fetuses) . It was not possible to explore the presence of pathogenic copy number variants, as there was only 1 study in which 2 fetuses were tested for these anomalies using CMA …”

Section: Resultsmentioning

confidence: 99%

Outcome of isolated fetal talipes: A systematic review and meta‐analysis

Mascio

Buca

Khalil

et al. 2019

Acta Obstet Gynecol Scand

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Introduction The aim of this systematic review was to explore the outcome of fetuses with a prenatal diagnosis of isolated talipes. Material and methods Medline, Embase, Cinahl, and Clinicaltrials.gov databases were searched. The outcomes explored were: associated anomalies detected at follow‐up ultrasound examination; fetal magnetic resonance imaging (MRI) and birth; chromosomal abnormalities detected with standard and chromosomal microarray analysis, intrauterine, neonatal, and perinatal death, and termination of pregnancy; rate of surgical and nonsurgical treatment; neurodevelopmental outcome; and false‐positive rate of prenatal diagnosis. Meta‐analyses of proportions were used to combine data. Results Twenty‐five studies (1567 fetuses) were included. Associated anomalies were detected in 7.8% (95% CI 0.1%‐29.3%) of cases at follow‐up ultrasound, and in 4.0% (95% CI 0.1%‐13.2%) of cases, fetal MRI identified anomalies not detected at ultrasound assessment. Similarly, 7.0% (95% CI 3.4%‐11.7%) of cases labeled as isolated talipes on prenatal imaging were found to have associated anomalies at birth. Abnormal karyotype was present in 3.6% (95% CI 1.7%‐6.2%) of fetuses, whereas no anomaly was found at chromosomal microarray analysis, although this outcome was reported by only 1 study. Intrauterine death occurred in 0.99% (95% CI 0.4%‐1.9%) of fetuses, whereas the corresponding figures for neonatal death and termination of pregnancy were 1.5% (95% CI 0.6%‐2.6%) and 2.2% (95% CI 1.2%‐3.4%), respectively. Surgical management of anomalies after birth was found in 41.7% (95% CI 27.0%‐57.2%) of fetuses with isolated talipes, and 54.8% (95% CI 31.5%‐77.0%) had nonsurgical management of the anomalies after birth. Abnormal neurodevelopmental outcome was reported in 7.6% (95% CI 1.0%‐19.4%) of children, although this analysis was affected by the small number of included cases and short time of follow up. Conclusions Isolated talipes detected on prenatal ultrasound carries a generally good prognosis. The incidence of additional abnormalities detected on fetal MRI, aneuploidy, or neurodevelopmental disability is relatively low. However, longitudinal ultrasound assessment during pregnancy and a thorough postnatal evaluation are recommended to rule out associated anomalies that may significantly impact short‐ and long‐term prognosis.

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Section: Resultsmentioning

confidence: 99%

Outcome of isolated fetal talipes: A systematic review and meta‐analysis

Mascio

Buca

Khalil

et al. 2019

Acta Obstet Gynecol Scand

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“…Therefore TAS is considered more suitable after the 16th week of pregnancy. [11][12][13] The limb buds are fi rst seen on TVS ultrasound at about 8th week of gestation and the long bones are visible by the 11th week; 13 when legs and foot sole do not appear perpendicular to each other it can be possible to infer clubfoot diagnosis 18 . The embryonic and foetal foot are reported to develop in two phases, the fi bular (6.5 -7 gestation weeks) and the tibial (8 -9 gestation weeks).…”

Section: Discussionmentioning

confidence: 99%

“…17 Ultrasound has become a routine procedure during pregnancy and it can be performed by transabdominal (TAS) or transvaginal (TVS) approach. 13 In the early stages of gestation, TVS examination provides better image resolution and this can also allow us to fi nd musculoskeletal abnormalities earlier than 14th to 16th week of pregnancy. However, with the progress of pregnancy, TVS becomes less useful because of the foetus displacement away from the vaginal canal.…”

Section: Discussionmentioning

confidence: 99%

“…However, it is still unclear what effect MRI has on the developing foetus; for this reason, some authors argue that offering MRI as routine examination is not justifi ed. 13,30 Although idiopathic in the majority of cases, clubfoot could be sometimes associated with chromosomal abnormalities, genetic syndromes or other deformities. Historically, a sonographic diagnosis of clubfoot was considered an indication for amniocentesis, though recent studies have suggested karyotyping only if associated anomalies on the sonographic survey are presents.…”

Section: Discussionmentioning

confidence: 99%

“…11 There are some studies on magnetic resonance imaging used for prenatal diagnosis of clubfoot 12 , however, MRI effects on the developing fetus are not clear, hence routine MRI is probably not justifi ed, especially in case of isolated clubfoot. 13 Today it is unclear whether it is necessary to perform further diagnostic tests, such as amniocentesis or chorionic villus sampling (CVS). Considering the important role of prenatal diagnostic testing of clubfoot, we performed a review of the recent available literature on prenatal diagnosis of clubfoot.…”

Section: Introductionmentioning

confidence: 99%

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Prenatal Diagnosis of Clubfoot: A Review of Current Available Methodology

et al. 2017

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Background: Clubfoot is one of the most common congenital limb deformities. Prenatal diagnosis of the condition is essential as it can help treat the malformation as early as possible. We reviewed the recent available literature concerning the current methods for prenatal diagnosis of clubfoot. Methods:The following databases were searched from 1966 to 2015: PubMed, OVID, Cochrane, CINAHL, Google scholar and Embase. Results: Out of a total number of 197 retrieved articles, after abstract or title page evaluation, 158 articles not matching the inclusion criteria were excluded. The full text versions of the remaining 39 articles were obtained, and their reference lists screened, with the addition of another 5 full-text articles. Conclusions: Currently, ultrasonography is considered the most reliable method of prenatal diagnosis of clubfoot. Ultrasonographic diagnosis of clubfoot appears more likely between the 18th and the 24th week of pregnancy. Alternative imaging is not indicated. There is no agreement whether to propose foetal karyotyping when isolated clubfoot is diagnosed by prenatal ultrasonography. Early detection of clubfoot should prompt a careful surveillance during pregnancy in order to detect any possible additional abnormalities and, if any of these are detected, invasive testing should be off ered.

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Prenatal isolated clubfoot increases the risk for clinically significant exome sequencing results

Liu

Zhang

et al. 2022

Prenatal Diagnosis

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Objective To examine the diagnostic yield of exome sequencing (ES) in singleton pregnancies with isolated fetal clubfoot. Methods Clinical data from singleton pregnancies with a sonographic diagnosis of isolated clubfoot and ES results between 2018 and 2021 were retrospectively obtained from a single referral medical center. The recorded data include maternal age, gestational age at sonographic diagnosis, the indication for genetic testing, ES results, and pregnancy outcomes. Results During the study period, 38 fetuses were prenatally diagnosed with isolated clubfoot by ultrasound and underwent ES after the copy number variant analysis was non‐diagnostic. Through the trio‐ES analysis, pathogenic or likely pathogenic variants were detected in 4 of 38 (10.5%) with the following genes: BRPF1, ANKRD17, FLNA, and KIF1A. All are de novo with three of autosomal dominant inheritance and one of X‐linked recessive inheritance. Conclusion Sonographic diagnosis of clubfoot, even isolated, increases the risk for monogenic syndromes. Exome sequencing should be an option for genetic investigation for such pregnancies.

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Clubfeet and associated abnormalities on fetal magnetic resonance imaging

Abstract: Fetal MRI enables differentiation between isolated and complex TEV. Isolated TEV on ultrasound may not be an MRI indication, whereas MRI may be useful in cases of complex TEV.

Cited by 21 publications

References 21 publications

Outcome of isolated fetal talipes: A systematic review and meta‐analysis

Outcome of isolated fetal talipes: A systematic review and meta‐analysis

Prenatal Diagnosis of Clubfoot: A Review of Current Available Methodology

Prenatal isolated clubfoot increases the risk for clinically significant exome sequencing results

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