Prenatal ultrasound diagnosis of club foot and counselling

admin · Aug 10, 2005

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Prenatal ultrasound diagnosis of club foot
OUTCOME AND RECOMMENDATIONS FOR COUNSELLING AND FOLLOW-UP
[size=-1]Journal of Bone and Joint Surgery - British Volume, Vol 87-B, Issue 7, 990-993[/size]

Club foot was diagnosed by ultrasonography in 91 feet (52 fetuses) at a mean gestational age of 22.1 weeks (14 to 35.6). Outcome was obtained by chart review in 26 women or telephone interview in 26. Feet were classified as normal, positional deformity, isolated club foot or complex club foot.

At initial diagnosis, 69 feet (40 fetuses) were classified as isolated club foot and 22 feet (12 fetuses) as complex club foot. The diagnosis was changed after follow-up ultrasound scan in 13 fetuses (25%), and the final ultrasound diagnosis was normal in one fetus, isolated club foot in 31 fetuses, and complex club foot in 20 fetuses.

At birth, club foot was found in 79 feet in 43 infants for a positive predictive value of 83%. Accuracy of the specific diagnosis of isolated club foot or complex club foot was lower; 63% at the initial ultrasound scan and 73% at the final scan. The difference in diagnostic accuracy between isolated and complex club foot was not statistically significant. In no case was postnatal complex club foot undiagnosed on fetal ultrasound and all inaccuracies were overdiagnoses. Karyotyping was performed in 25 cases. Abnormalities were noted in three fetuses, all with complex club foot and with additional findings on ultrasound.
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NewsBot · May 22, 2010

Fetal MRI of clubfoot associated with myelomeningocele.
Servaes S, Hernandez A, Gonzalez L, Victoria T, Johnson M, Jaramillo D, Christopher Edgar J, Johnson A.
Pediatr Radiol. 2010 May 20. [Epub ahead of print]

BACKGROUND: The sensitivity and specificity of evaluating clubfoot deformity by MR in high-risk fetuses is currently unknown.

OBJECTIVE: To correlate fetal MRI with US in the assessment of clubfoot and to identify the MRI features most characteristic of clubfoot.

MATERIALS AND METHODS: With IRB approval and informed consent, the presence of fetal clubfoot was prospectively evaluated in mothers referred for MRI for a fetus with myelomeningocele. Two radiologists blind to the US results independently reviewed the MRI for the presence of clubfoot. MRI results were compared with US results obtained the same day and birth outcomes.

RESULTS: Of 20 patients enrolled, there were 13 clubfeet. Interobserver agreement for the presence of clubfoot was 100%. The sensitivity of the MRI exam was 100% and the specificity 85.2%. A dedicated sagittal imaging plane through the ankle region allowed the most confident diagnosis; medial deviation of the foot relative to the leg was seen in all 13 fetuses with clubfoot.

CONCLUSION: The correlation of fetal MRI with US in the evaluation of clubfoot yields a sensitivity of 100% and specificity of 85.2%. The sagittal plane provided the most useful information.
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NewsBot · Oct 16, 2013

Prospective Evaluation of a Prenatal Sonographic Clubfoot Classification System
Glotzbecker M.P. · Estroff J.A. · Curtis T.A. · Kalish L.A. · Spencer S.A. · Parad R.B. · Kasser J.R. · Mahan S.T.
Fetal Diagn Ther (DOI: 10.1159/000354554)

Background: The purpose of this study was to prospectively evaluate our recently described fetal sonographic classification system for prenatal diagnosis of clubfoot.

Methods: Over 18 months, we prospectively enrolled consecutive pregnant patients evaluated for a prenatally diagnosed clubfoot. Prenatal sonographic scores assigned by a radiologist were compared to final clinical diagnosis and severity given by a pediatric orthopedic surgeon. Pearson's χ2 test and logistic regression were used in statistical analyses on the subject level. Generalized estimating equations were used in analyses on the foot level to account for intrasubject correlation.

Results: There were 50 subjects, with 26 unilateral and 24 bilateral clubfeet, according to the prenatal ultrasound (US). A total of 51 (69%) of 74 feet and 36 (72%) of 50 subjects had a postnatal diagnosis of clubfoot. The accuracy of diagnosis in cases of a severe, moderate, and mild US score was 94, 70, and 25%, respectively (p = 0.003 comparing moderate-severe vs. mild). US severity correlated with the Dimeglio classification scoring system (Spearman's correlation 0.30).

Conclusion: The fetal sonographic scoring system is predictive of clinical severity after birth, and improves the ability to counsel families with a prenatal diagnosis of clubfoot
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NewsBot · Jan 11, 2014

Prenatal screening for clubfoot: what factors predict prenatal detection?
Susan T. Mahan, Mahsa M. Yazdy, James R. Kasser, Martha M. Werler
Prenatal Diagnosis; Accepted Article

Objective
Routine prenatal ultrasound has often resulted in the early detection of musculoskeletal disorders. The purpose of this study was to determine which socioeconomic factors are associated with prenatal detection of clubfoot.
Methods
The Slone Epidemiology Center at Boston University identified infants in three states (MA, NY, NC) who were reported as having a clubfoot. Mothers of these children were contacted, interviewed, and medical records obtained. Data were analyzed by using logistic regression to estimate odds ratios (ORs) and 95% confidence intervals (CIs).
Results
Overall detection of the clubfoot prenatally was 62.3% (421/676) but this varied considerably by state: 81.1% in Massachusetts (154/190), 58.5% in New York (124/212), and 52.2% in North Carolina (143/274). Multivariate analysis revealed the strongest predictors for prenatal detection were maternal age ≥ 35 years (OR: 3.54), non-Hispanic black race (OR: 0.49), the presence of another birth defect (OR: 2.61), residing in Massachusetts (OR: 2.64) and the presence of a bilateral clubfoot (OR: 1.90).
Conclusions
We found a statistically significantly higher rate of prenatal detection of clubfoot in Massachusetts and lower rate in younger mothers (age < 35) and black mothers, even after adjustment for other sociodemographic variables. This article is protected by copyright. All rights reserved.
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NewsBot · Feb 7, 2015

Clubfoot's prenatal ultrasound diagnosis: Is amniocentesis always warranted? About 124 cases.
Khodja Bach S, Houfflin-Debarge V, Vaast P, Wapler C, Coulon C
Gynecologie, Obstetrique & Fertilite [2015]

OBJECTIVES: Analyze factors leading to isolated clubfoot's occurrence, identify clubfeet associated pathologies, and discuss the opportunity of performing an amniocentesis in cases of isolated clubfoot.

PATIENTS AND METHODS: Between January 2007 and December 2011, all patients diagnosed with clubfoot in our prenatal diagnostic center were retrospectively included. We then defined and analyzed idiopathic or isolated talipses equinovarus (ITEV) and clubfeet associated with others morphologic abnormalities or syndromic talipses equinovarus (STEV).

RESULTS: One hundred and twenty-four clubfeet were analyzed. Forty-seven cases of ITEV, for which 34 caryotypes were performed with a normal result. Risk factors of ITEV in our series were male gender (P=0.0017), a family history of clubfoot (P=0.001) and primiparity (P=0.04). Seventy-seven cases of STEV were diagnosed, 14 of which had chromosomal abnormalities, 18 spina bifida and 10 musculo-skeletal abnormalities. Among the 124 cases of clubfeet, 25 were unilateral and 99 were bilateral. Bilateral talipses equinovarus do not constitute a risk factor of STEV (P=0.8).

DISCUSSION AND CONCLUSION: We did not find any chromosomic abnormalities in cases of ITEV. The results of our study could lead to defer systematic amniocentesis in cases of primiparous women diagnosed with an ITEV, with a familial history of clubfoot and a male fetus. A referent echographist in prenatal diagnosis should still perform a systematic morphologic echography.
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NewsBot · Jul 18, 2015

Prenatal diagnosis of clubfoot: Chromosomal abnormalities associated with fetal defects and outcome in a tertiary center
Benjamin Viaris de le Segno et al
Journal of Clinical Ultrasound; Early View

Purpose
Our aim was to evaluate the rate of occurrence of chromosomal abnormalities, associated findings, and outcome in a series of cases of prenatally diagnosed clubfoot.

Methods
We conducted a retrospective study of all cases of clubfoot diagnosed prenatally in the ultrasound unit of a French tertiary center from January 2004 through December 2011. Clubfoot was scored as complex or isolated depending on the presence or absence of another structural abnormality observed on sonographic examination.

Results
Data from 90 fetuses prenatally diagnosed with clubfoot were included in this study. Thirty-four cases were considered complex (38%) and 56 were considered isolated (62%). A chromosomal abnormality was identified in 10 of 33 of the fetuses with complex clubfoot and in 1 of 45 of those with isolated clubfoot (p < 0.001). Clubfoot was associated with a poor outcome in 5 of 52 cases of isolated clubfoot and in 31 of 34 cases associated with other structural defects (p < 0.001). The deformity was bilateral in 62 cases (69%) and unilateral in 28 (31%). No statistically significantly higher rate of poor outcome was identified when the deformity occurred bilaterally nor was a significantly higher rate of chromosomal abnormality noted in this condition.

Conclusions
Aneuploidy and adverse pregnancy outcomes occur more commonly in prenatally diagnosed cases of complex clubfoot than in those of isolated clubfoot. Fetal karyotyping is required in cases of complex clubfoot, but the need for that procedure in isolated clubfoot remains controversial.
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NewsBot · Sep 17, 2015

Prenatal Brain Imaging in Isolated vs. Complicated Club Foot: A Cohort Study.
Gat I et al
Ultraschall Med. 2015 Sep 11

Purpose: Talipes equinovarus (TEV) is a common birth defect. Differentiation between isolated and complex TEV is fundamental due to its effect on prognosis. Association between TEV and poor neurological outcome is more prominent in complex cases and highlights the significance of brain evaluation. The aim of the current study was to evaluate the contribution of fetal brain MRI to sonographic evaluation.
Materials and Methods: In this retrospective study we evaluated charts of all pregnant patients referred for fetal brain MRI due to fetal TEV between 1/1/2011 and 12/31/14 in a single tertiary referral center. Isolated and complex TEV were differentiated according to associated anomalies. Brain US and MRI results were compared.
Results: 28 pregnant patients were included with an average gestation and parity of 2.5 and 1.5, respectively. Both isolated and complicated TEV groups included 14 fetuses after initial TEV diagnosis on anatomical survey. Brain sonography and MRI were normal among 12/14 patients with isolated TEV while two patients were later diagnosed with mild ventriculomegaly. US brain evaluation has revealed pathologic findings in 4 (28.6 %) cases in the complicated TEV group, while MRI demonstrated abnormal findings in 8 (57.1 %) fetuses with notable severity diversity. In 6 cases, MRI diagnosed additional pathologies which were not demonstrated by US.
Conclusion: Brain fetal MRI is an efficient tool during antenatal evaluation of complicated TEV with a high percentage of additional findings not demonstrated songraphically while its efficacy in isolated cases is in doubt. The current study expands the relevance of fetal brain MRI in cases of non-CNS anomalies.
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NewsBot · Oct 6, 2015

A new sign to differentiate clubfoot from functional malposition: the transverse skin arch fold
J. Develay-Morice, N. Frandji-Barbier, F. Grosjean, G. Haddad, C. Chau, C. D'Ercole and P. Mares
Supplement: Abstracts of the 25th World Congress on Ultrasound in Obstetrics and Gynecology, 11-14 October 2015, Montr?al, Canada

Objectives:
It is sometimes difficult to differentiate real clubfoot from a simple malposition particularly in the third trimester of gestation and much more if there is an oligoamnios. A new reliable sign seems to be able to distinguish them.

Methods:
During a scan of the sole checking an abnormal ankle angulation we were surprised to obtain a very hyperechogenic line perpendicularly to the axis of the sole. This sign due to the increased curve of the sole lead to a transverse fold in the middle of the sole and place the skin perpendicular to ultrasound if the beam arrives in the axis of the foot. Then we looked for this sign prospectively and retrospectively for real clubfoot (50 cases) and suspicion of clubfoot (10 cases).

This simple method consists in the sweep of the sole with US beam in the axis of the sole.

Results:
42 had this hyperechogenic line transverse to the sole and had a real clubfoot. Eight did not have the line but the curve was significantly increased with a fold seen on the internal side of the sole. Ten did not have the line with a normal sole curve and was functional malposition.

We found easier to begin the sweep with a beam under the sole with an angle of about 10? as to be more perpendicular to the skin.

Conclusions:
This study demonstrates the great interest of the transverse skin arch fold in the differentiation between real clubfoot and functional malposition. In our study this sign was present in every proved clubfoot studied, particularly easy to find with the echogenic line in 84% of our cases, quite more subtle in 16% with the fold on the internal side of the sole. We did not find it in functional malposition. So that we did not found any false positive or false negative in our cases.
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NewsBot · Jun 10, 2017

Diagnostic accuracy, work-up and outcomes of pregnancies with clubfoot detected by prenatal sonography
Maya Sharon-Weiner,
Prenatal Diagnosis 31 May 2017

Objective
To assess diagnostic accuracy, related findings and outcomes of fetuses with clubfoot.
Methods
Sonographic characteristics, pregnancy work-up and postnatal outcomes were evaluated in 109 fetuses with clubfoot.
Results
Among 40,320 prenatal ultrasound anomaly scans, clubfoot was diagnosed in 150 (0.37%). Analysis included 108 pregnancies (72%) with 109 fetuses. Bilateral clubfoot was diagnosed in 51/109(46.7%) fetuses and unilateral in 58/109(53.2%). Clubfoot was diagnosed as an isolated anomaly in 76/109(69.7%) and complex in 33/109(30.2%). Amniocentesis or chorionic villus sampling in 48/109(44%) yielded 6(12.5%) with abnormalities (5.5% of the entire cohort). Diagnosis was confirmed in 65/91(71.4%) live born infants. In singletons, 7/63(11.1%) cases considered isolated on ultrasound had additional anomalies postpartum, and 8/14(57.1%) complex cases were verified after birth. Sonographic diagnosis of clubfoot was verified postpartum in more singletons than twins (p=0.05). Bilateral clubfoot was verified postpartum more often than unilateral (29/33 (87.9%) vs. 29/44 (65.9%), respectively; p=0.03). Bilateral clubfoot resulted in additional prenatal testing without increased likelihood of finding additional anomalies and was associated with more surgical interventions postnatally.
Conclusions
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.
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NewsBot · Dec 30, 2021

Prenatal Diagnosis of Clubfoot: Where Are We Now?
Systematic Review and Meta-Analysis
Laura Ruzzini et al
Diagnostics 2021, 11, 2235.

The primary methods for prenatal diagnosis of Clubfoot are ultrasound (US) and magnetic
resonance imaging (MRI). An ultrasound is performed between the 1st trimester and the 28th week
of pregnancy and it is reported to be used as a diagnostic method alone or in combination with MRI.
So far, an international consensus on the most effective screening method has not been reached. This
systematic review and meta-analysis were performed to establish the most effective and reliable
exam for prenatal diagnosis of Clubfoot. The literature search was conducted using a PIOSapproach from May 2021 to June 2021. Studies reporting cases of prenatal diagnosis of Clubfoot
made through US and MRI conducted from January 2010 to June 2021 were included in the study
and reviewed by 2 authors. The 23 selected studies included 2318 patients. A total of 11 of the studies
included details on the accuracy, while the rest were used to obtain information about the primary
methodology utilized. In all the selected studies, US was used as the primary diagnostic instrument.
Thirteen of the studies used the US exclusively, while three used MRI in addition to US and seven
performed karyotyping after US diagnosis. The US has been shown to be the instrument of choice
for the prenatal diagnosis of Clubfoot. International guidelines for an ultrasonography classification
of congenital clubfoot are required to reduce the inter-variability accuracy of this procedure.
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NewsBot · Mar 4, 2024

Prenatal diagnosis of isolated bilateral clubfoot: Is
amniocentesis indicated?
Edouard Leyne et al
Source

Introduction: The aim of this study is to evaluate the benefit of cytogenetic testing by
amniocentesis after an ultrasound diagnosis of isolated bilateral talipes equinovarus.
Material and methods: This multicenter observational retrospective study includes
all prenatally diagnosed cases of isolated bilateral talipes equinovarus in five fetal
medicine centers from 2012 through 2021. Ultrasound data, amniocentesis results,
biochemical analyses of amniotic fluid and parental blood samples to test neuromuscular diseases, pregnancy outcomes, and postnatal outcomes were collected for each
patient.
Results: In all, 214 fetuses with isolated bilateral talipes equinovarus were analyzed.
A first-degree family history of talipes equinovarus existed in 9.8% (21/214) of our
cohort. Amniocentesis was proposed to 86.0% (184/214) and performed in 70.1%
(129/184) of cases. Of the 184 karyotypes performed, two (1.6%) were abnormal (one
trisomy 21 and one triple X syndrome). Of the 103 microarrays performed, two (1.9%)
revealed a pathogenic copy number variation (one with a de novo 18p deletion and
one with a de novo 22q11.2 deletion) (DiGeorge syndrome). Neuromuscular diseases
(spinal muscular amyotrophy, myasthenia gravis, and Steinert disease) were tested
for in 56 fetuses (27.6%); all were negative. Overall, 97.6% (165/169) of fetuses were
live-born, and the diagnosis of isolated bilateral talipes equinovarus was confirmed for
98.6% (139/141). Three medical terminations of pregnancy were performed (for the
fetuses diagnosed with Down syndrome, DiGeorge syndrome, and the 18p deletion).
Telephone calls (at a mean follow-up age of 4.5 years) were made to all parents to collect medium-term and long-term follow-up information, and 70 (33.0%) families were
successfully contacted. Two reported a rare genetic disease diagnosed postnatally
(one primary microcephaly and one infantile glycine encephalopathy). Parents did not
report any noticeably abnormal psychomotor development among the other children
during this data collection.
Conclusions: Despite the low rate of pathogenic chromosomal abnormalities diagnosed prenatally after this ultrasound diagnosis, the risk of chromosomal aberration
exceeds the risks of amniocentesis. These data may be helpful in prenatal counseling
situations
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