Prenatal diagnosis of clubfoot: Chromosomal abnormalities associated with fetal defects and outcome in a tertiary center

Segno, Benjamin Viaris de le; Gruchy, Nicolas; Bronfen, C.; Dolley, P.; Leporrier, Nathalie; Créveuil, Christian; Benoist, G.

doi:10.1002/jcu.22275

Cited by 21 publications

(34 citation statements)

References 12 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%

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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“…Furthermore, seven studies (four further) were excluded due to a loss to follow-up of >10%, which might lead to selection bias 6 8 11 13 18–20. Finally therefore, 12 papers2 4 5 7 9 10 12 14–16 23 24 were used in the analyses (table 1; for excluded data see online supplementary appendix). …”

Section: Searchmentioning

confidence: 99%

“…To calculate false positive rate, we excluded four studies not adequately discriminating between positional TEV and structural TEV,2 4 10 15 leaving eight studies,5 7 9 12 14 16 23 24 from which pooled data (283 cases of fetally diagnosed isolated TEV) yield an false positive rate of 18.0% (51/283). Only four studies provided subgroup data for isolated unilateral TEV versus isolated bilateral TEV,7 9 23 24 constituting 52 unilateral and 78 bilateral cases with associated false positive rates of 15.4% (8/52) and 14.1% (11/78), respectively.…”

Section: Commentarymentioning

confidence: 99%

“…Only four studies provided subgroup data for isolated unilateral TEV versus isolated bilateral TEV,7 9 23 24 constituting 52 unilateral and 78 bilateral cases with associated false positive rates of 15.4% (8/52) and 14.1% (11/78), respectively.…”

Section: Commentarymentioning

confidence: 99%

“…To calculate unanticipated associated congenital anomaly rate, we excluded nine studies with a follow-up of <1 year for live births,2 5 7 9 10 12 14 23 24 which might have underrepresented the late postnatal diagnosis of associated congenital anomalies; this left only three studies 4 15 16. The data were pooled, constituting 67 cases of fetally diagnosed isolated TEV, yielding a unanticipated associated congenital anomaly rate of 10.4% (7/67).…”

Section: Commentarymentioning

confidence: 99%

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