Diagnostic accuracy, work-up, and outcomes of pregnancies with clubfoot detected by prenatal sonography

Sharon-Weiner, Maya; Sukenik-Halevy, Rivka; Tepper, R.; Fishman, Ami; Biron‐Shental, Tal; Markovitch, Ofer

doi:10.1002/pd.5077

Cited by 32 publications

(46 citation statements)

References 18 publications

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“…Eleven studies (264 fetuses) explored the prevalence of chromosomal anomalies in fetuses with a prenatal diagnosis of apparently isolated talipes. Overall, abnormal karyotype was present in 3.6% (95% CI 1.7%‐6.2%) of fetuses with isolated clubfeet on ultrasound.…”

Section: Resultsmentioning

confidence: 99%

“…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%

“…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). 14,24,25,[29][30][31]33,37 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. 24 Table S4).…”

Section: Synthesis Of the Resultsmentioning

confidence: 99%

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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%

Section: Resultsmentioning

confidence: 99%

Section: Synthesis Of the Resultsmentioning

confidence: 99%

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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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“…For statistical analysis, we stratified perinatal outcomes by IUFD, TOP, or live birth, and found that younger maternal age was associated with more favorable outcomes; this might be related to the higher rate of more complex syndromes in older women (data not shown) [11]. According to the literature, the mean maternal age of women with a congenital malformation of the fetal limb ranged between 22.1 and 31.5 years [9,10,13,20].…”

Section: Discussionmentioning

confidence: 99%

“…A glance at the currently available literature reveals that researchers have been focusing on the perinatal outcomes associated with clubfeet [11][12][13][14], followed by toe/finger malformations [15], amniotic band syndrome [16], and other various pathologies, including limb reduction defects, arthrogryposis, polydactyly, and abnormal hand position [17]. Some reports have focused on the prenatal diagnostic assessment rather than the obstetric outcomes in this selected patient cohort [18,19].…”

Section: Introductionmentioning

confidence: 99%

Perinatal outcomes of infants with congenital limb malformations: an observational study from a tertiary referral center in Central Europe

Farr

Wachutka

Bettelheim

et al. 2019

Preprint

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Background: Congenital limb malformations are rare, and their perinatal outcomes are not well described. This study analyzed the perinatal outcomes of infants with congenital limb malformations. Methods: All infants with congenital limb malformations who underwent prenatal assessment and delivery at our tertiary referral center from 2004 through 2017 were retrospectively identified. Neonatal outcome parameters were assessed, and the predictors of worse perinatal outcomes were determined. Results: One hundred twenty-four cases of congenital limb malformations were identified, of which 104 (83.9%) were analyzed. The upper limb was affected in 15 patients (14.4%), the lower limb in 49 (47.1%), and both limbs in 40 (38.5%). A fetal syndrome was identified in 66 patients (63.5%); clubfoot and longitudinal reduction defects were the most frequent malformations. In total, 38 patients (36.5%) underwent termination, seven (6.7%) had stillbirth, and 59 (56.7%) had live-born delivery. Rates of preterm delivery and NICU transfer were 42.4% and 25.4%, respectively. Localization of the malformation was a determinant of the perinatal outcome (P = .006) and preterm delivery (P = .046). Conclusions: Congenital limb malformations frequently occur bilaterally and are associated with poor perinatal outcomes, including high rates of stillbirth and preterm delivery. Multidisciplinary care and referral to a perinatal center are warranted.

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Associated anomalies in cases with congenital clubfoot

Stoll¹,

Alembick²,

Dott³

et al. 2020

American J of Med Genetics Pt A

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Congenital clubfoot CTEV is a common congenital anomaly, its etiology is unclear and its pathogenesis is controversial. Cases with CTEV often have other non‐CTEV associated congenital anomalies. The purpose of this study was to assess the prevalence and the types of these associated anomalies in a defined population. The associated anomalies in cases with CTEV were collected in all livebirths, stillbirths, and terminations of pregnancy during 29 years in 387,067 consecutive births in the area covered by our population‐based registry of congenital malformations. Of the 504 cases with CTEV, representing a prevalence of 13.02 per 10,000, 107 (21.2%) had associated anomalies. There were 31 (6.1%) cases with chromosomal abnormalities, and 21 (4.2%) non‐chromosomal recognized dysmorphic conditions including syndromes: 6 arthrogryposis multiplex congenita, 2 22q11.2 microdeletion, and one fetal alcohol syndrome. Fifty‐five (10.9%) of the cases had nonsyndromic multiple congenital anomalies (MCA). Anomalies in the cardiovascular, the central nervous, the urinary, the orofacial, and the musculoskeletal systems were the most common other anomalies in the cases with MCA. The anomalies associated with CTEV could be classified into a recognizable malformation syndrome in 52 of the 107 cases (48.6%) with associated anomalies. This study included special strengths: it is population‐based, each affected child was examined by a geneticist, all elective terminations were ascertained, and the surveillance for anomalies was continued until 2 years of age. In conclusion the overall prevalence of associated anomalies, one of five cases, emphasizes the need for a screening for other anomalies in cases with CTEV.

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Diagnostic accuracy, work-up, and outcomes of pregnancies with clubfoot detected by prenatal sonography

Abstract: Prenatal ultrasound diagnosis of clubfoot is more accurate in singletons with bilateral findings. Bilateral findings do not increase the likelihood of additional anomalies. Karyotyping should be considered even with isolated clubfoot. © 2017 John Wiley & Sons, Ltd.

Cited by 32 publications

References 18 publications

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

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

Perinatal outcomes of infants with congenital limb malformations: an observational study from a tertiary referral center in Central Europe

Associated anomalies in cases with congenital clubfoot

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