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Congenital talipes equinovarus (clubfoot)

      Introduction

      Congenital talipes equinovarus (clubfoot) is one of the most common congenital malformations; it affects 1–3 in 1000 live births and occurs twice as often in male fetuses.
      • Werler M.M.
      • Yazdy M.M.
      • Mitchell A.A.
      • et al.
      Descriptive epidemiology of idiopathic clubfoot.
      ,
      • Sharon-Weiner M.
      • Sukenik-Halevy R.
      • Tepper R.
      • Fishman A.
      • Biron-Shental T.
      • Markovitch O.
      Diagnostic accuracy, work-up, and outcomes of pregnancies with clubfoot detected by prenatal sonography.
      It can be unilateral (30–40%) or bilateral (60–70%) and can be either an isolated malformation (50–70%) or complex and associated with other structural or genetic anomalies (30–50%).
      • Sharon-Weiner M.
      • Sukenik-Halevy R.
      • Tepper R.
      • Fishman A.
      • Biron-Shental T.
      • Markovitch O.
      Diagnostic accuracy, work-up, and outcomes of pregnancies with clubfoot detected by prenatal sonography.
      • Viaris de le Segno B.
      • Gruchy N.
      • Bronfen C.
      • et al.
      Prenatal diagnosis of clubfoot: Chromosomal abnormalities associated with fetal defects and outcome in a tertiary center.
      • Bakalis S.
      • Sairam S.
      • Homfray T.
      • Harrington K.
      • Nicolaides K.
      • Thilaganathan B.
      Outcome of antenatally diagnosed talipes equinovarus in an unselected obstetric population.
      • Canto M.J.
      • Cano S.
      • Palau J.
      • Ojeda F.
      Prenatal diagnosis of clubfoot in low-risk population: associated anomalies and long-term outcome.
      • Offerdal K.
      • Jebens N.
      • Blaas H.G.
      • Eik-Nes S.H.
      Prenatal ultrasound detection of talipes equinovarus in a non-selected population of 49 314 deliveries in Norway.
      • Nemec U.
      • Nemec S.F.
      • Kasprian G.
      • et al.
      Clubfeet and associated abnormalities on fetal magnetic resonance imaging.

      Definition

      Clubfoot is a structural deformity of the foot and ankle with hindfoot equinus (plantar flexion), varus of the heel (inward rotation), supination, and adduction of the forefoot (plantar cavus).
      • Bar-Hava I.
      • Bronshtein M.
      • Orvieto R.
      • Shalev Y.
      • Stal S.
      • Ben-Rafael Z.
      Caution: prenatal clubfoot can be both a transient and a late-onset phenomenon.

      Ultrasound Findings

      A diagnosis of clubfoot can be made as early as 13 weeks of gestation; 85% of diagnoses are made between 13 and 23 weeks of gestation.
      • Sharon-Weiner M.
      • Sukenik-Halevy R.
      • Tepper R.
      • Fishman A.
      • Biron-Shental T.
      • Markovitch O.
      Diagnostic accuracy, work-up, and outcomes of pregnancies with clubfoot detected by prenatal sonography.
      ,
      • Nemec U.
      • Nemec S.F.
      • Kasprian G.
      • et al.
      Clubfeet and associated abnormalities on fetal magnetic resonance imaging.
      ,
      • Keret D.
      • Ezra E.
      • Lokiec F.
      • Hayek S.
      • Segev E.
      • Wientroub S.
      Efficacy of prenatal ultrasonography in confirmed club foot.
      Before 13 weeks of gestation, a transient clubfoot position can be present as part of normal development.
      • Bogers H.
      • Rifouna M.S.
      • Cohen-Overbeek T.E.
      • et al.
      First trimester physiological development of the fetal foot position using three-dimensional ultrasound in virtual reality.
      To diagnose clubfoot, one must visualize both the tibia and fibula in the same plane as the sole of the foot (Figures 1 and 2). Abnormal positioning persists over the duration of the scan.
      • Sharon-Weiner M.
      • Sukenik-Halevy R.
      • Tepper R.
      • Fishman A.
      • Biron-Shental T.
      • Markovitch O.
      Diagnostic accuracy, work-up, and outcomes of pregnancies with clubfoot detected by prenatal sonography.
      ,
      • Benacerraf B.R.
      • Frigoletto F.D.
      Prenatal ultrasound diagnosis of clubfoot.
      It is important to visualize the foot away from the uterine wall to avoid the false appearance of a clubfoot from fetal positioning. In all, 70–75% of isolated cases are confirmed at delivery, with a reported false-positive rate of 10–20%; 5–13% are confirmed as complex postnatally.
      • Sharon-Weiner M.
      • Sukenik-Halevy R.
      • Tepper R.
      • Fishman A.
      • Biron-Shental T.
      • Markovitch O.
      Diagnostic accuracy, work-up, and outcomes of pregnancies with clubfoot detected by prenatal sonography.
      ,
      • Toufaily M.H.
      • Westgate M.N.
      • Holmes L.B.
      Congenital talipes equinovarus: frequency of associated malformations not identified by prenatal ultrasound.
      ,
      • Lauson S.
      • Alvarez C.
      • Patel M.S.
      • Langlois S.
      Outcome of prenatally diagnosed isolated clubfoot.
      Figure thumbnail gr1
      Figure 1Clubfoot
      Coronal view shows the long axis of foot in the same plane as the tibia/fibula.
      SMFM Fetal Anomalies Consult Series #2. Am J Obstet Gynecol 2019.
      Figure thumbnail gr2
      Figure 2View of the foot and leg
      Flat view of the foot is seen in the same plane as the lower leg. The lower leg should not be seen when the bottom of the foot is being viewed.
      SMFM Fetal Anomalies Consult Series #2. Am J Obstet Gynecol 2019.

      Associated Abnormalities

      Depending on the cause, there are numerous possible associated anomalies. The most frequent anomalies include central nervous system and spinal anomalies (52%), other musculoskeletal anomalies (28%), and thoracic anomalies (12%).
      • Nemec U.
      • Nemec S.F.
      • Kasprian G.
      • et al.
      Clubfeet and associated abnormalities on fetal magnetic resonance imaging.

      Differential Diagnosis

      The differential diagnosis of clubfoot is extensive. Clubfoot can be caused by both extrinsic and intrinsic causes. Extrinsic factors that can affect fetal foot position in utero include oligohydramnios, breech presentation, Müllerian anomalies, multiple gestation, amniotic band sequence, or amniocentesis at <15 weeks of gestation.
      • Werler M.M.
      • Yazdy M.M.
      • Mitchell A.A.
      • et al.
      Descriptive epidemiology of idiopathic clubfoot.
      ,
      • Sharon-Weiner M.
      • Sukenik-Halevy R.
      • Tepper R.
      • Fishman A.
      • Biron-Shental T.
      • Markovitch O.
      Diagnostic accuracy, work-up, and outcomes of pregnancies with clubfoot detected by prenatal sonography.
      ,
      • Benacerraf B.R.
      • Frigoletto F.D.
      Prenatal ultrasound diagnosis of clubfoot.
      ,
      • Lauson S.
      • Alvarez C.
      • Patel M.S.
      • Langlois S.
      Outcome of prenatally diagnosed isolated clubfoot.
      ,
      • Barker S.
      • Chesney D.
      • Miedzybrodzka Z.
      • Maffulli N.
      Genetics and epidemiology of idiopathic congenital talipes equinovarus.
      Intrinsic factors (
      • Bar-Hava I.
      • Bronshtein M.
      • Orvieto R.
      • Shalev Y.
      • Stal S.
      • Ben-Rafael Z.
      Caution: prenatal clubfoot can be both a transient and a late-onset phenomenon.
      ,
      • Lauson S.
      • Alvarez C.
      • Patel M.S.
      • Langlois S.
      Outcome of prenatally diagnosed isolated clubfoot.
      ,
      • Bacino C.A.
      • Hecht J.T.
      Etiopathogenesis of equinovarus foot malformations.
      • Basit S.
      • Khoshhal K.I.
      Genetics of clubfoot; recent progress and future perspectives.
      • Martin S.
      Clubfoot (Talipes equinovarus).
      ) include the following causes:
      • Chromosome abnormalities (30% complex, 2% isolated), including trisomy 18, 13, 21; 4p, 18q, and 22q11.2 deletion syndromes; sex chromosome abnormalities; microdeletions; or duplications
        • Viaris de le Segno B.
        • Gruchy N.
        • Bronfen C.
        • et al.
        Prenatal diagnosis of clubfoot: Chromosomal abnormalities associated with fetal defects and outcome in a tertiary center.
        ,
        • Lauson S.
        • Alvarez C.
        • Patel M.S.
        • Langlois S.
        Outcome of prenatally diagnosed isolated clubfoot.
        ,
        • Shaffer L.G.
        • Rosenfeld J.A.
        • Dabell M.P.
        • et al.
        Detection rates of clinically significant genomic alterations by microarray analysis for specific anomalies detected by ultrasound.
        ,
        • Cheung K.W.
        • Lai C.W.S.
        • Mak C.C.Y.
        • Hui P.W.
        • Chung B.H.Y.
        • Kan A.S.Y.
        A case of prenatal isolated talipes and 22q11.2 deletion syndrome-an important chromosomal disorder missed by noninvasive prenatal screening.
      • Genetic syndromes such as Larsen; Gordon; Pierre-Robin; Pena-Shokeir; Meckel-Gruber; Smith-Lemli-Opitz; Roberts; TARP (Talipes equinovarus, Atrial septal defect, Robin sequence, Persistence of left superior vena cava); and Lambert, among others
      • Skeletal dysplasias such as Ellis van Creveld syndrome, diastrophic dysplasia, chondrodysplasia punctata, camptomelic dysplasia, atelosteogenesis, and mesomelic dysplasia
      • Neuromuscular conditions that include arthrogryposis multiplex congenita, myotonic dystrophy, and spinal muscular atrophy
      • Other neurologic abnormalities such as neural tube defects, holoprosencephaly, and hydranencephaly

      Genetic Evaluation

      Diagnostic testing (amniocentesis or chorionic villus sampling) with chromosomal microarray analysis (CMA) should be offered when a club foot is detected.
      • Sharon-Weiner M.
      • Sukenik-Halevy R.
      • Tepper R.
      • Fishman A.
      • Biron-Shental T.
      • Markovitch O.
      Diagnostic accuracy, work-up, and outcomes of pregnancies with clubfoot detected by prenatal sonography.
      If ultrasound findings or screening test results are suggestive of a common aneuploidy, it is reasonable initially to perform karyotype analysis or fluorescence in situ hybridization, with reflex to CMA if these test results are normal. If there are additional anomalies, consanguinity, or a family history of a specific condition, gene panel testing or exome sequencing may be useful because CMA does not detect single-gene (Mendelian) disorders. If exome sequencing is pursued, appropriate pretest and posttest genetic counseling by a provider who is experienced in the complexities of genomic sequencing is recommended.
      International Society for Prenatal Diagnosis, Society for Maternal Fetal Medicine, Perinatal Quality Foundation
      Joint Position Statement from the International Society for Prenatal Diagnosis (ISPD), the Society for Maternal Fetal Medicine (SMFM), and the Perinatal Quality Foundation (PQF) on the use of genome-wide sequencing for fetal diagnosis.
      After appropriate counseling, cell-free DNA screening is an option for patients who decline diagnostic evaluation if a common aneuploidy is suspected.

      Pregnancy and Delivery Management

      A detailed ultrasound examination should be performed with attention to other joints to assess for arthrogryposis multiplex congenita. Examination should also include comprehensive imaging of the intracranial structures (eg, a neurosonogram) and the fetal heart. A fetal echocardiogram and fetal magnetic resonance imaging should be considered if cardiac or central nervous system abnormalities or a syndromic cause is suspected. Magnetic resonance imaging has been reported to improve the detection of associated anomalies in complex, but not isolated, cases.
      • Nemec U.
      • Nemec S.F.
      • Kasprian G.
      • et al.
      Clubfeet and associated abnormalities on fetal magnetic resonance imaging.
      Pregnancy termination is an option that should be discussed with all patients in whom a fetal anomaly is detected. Shared patient decision-making requires a thorough evaluation and multidisciplinary counseling regarding prognosis. The specific finding of clubfoot does not generally affect delivery management, although delivery at a tertiary care center with pediatric genetic and orthopedic surgery consultation may be appropriate with additional clinical findings. Management of complex cases depends on the constellation of anomalies. Mode of delivery is based on usual obstetric indications.

      Prognosis

      The prognosis depends on associated conditions but is generally excellent for isolated clubfoot. Perinatal death and neurodevelopmental and musculoskeletal issues are more likely with complex cases.
      • Bakalis S.
      • Sairam S.
      • Homfray T.
      • Harrington K.
      • Nicolaides K.
      • Thilaganathan B.
      Outcome of antenatally diagnosed talipes equinovarus in an unselected obstetric population.
      Families should be referred to pediatric orthopedics for evaluation for postnatal treatment. The current usual approach to therapy is the Ponseti method, which involves foot manipulation, serial casting, bracing, and monitoring for and treatment of relapse if it occurs.
      • Radler C.
      The Ponseti method for the treatment of congenital club foot: review of the current literature and treatment recommendations.
      Estimates for cases that require postnatal surgical intervention have been reported to range from 12–50%, although surgical treatment has been decreasing with time.
      • Sharon-Weiner M.
      • Sukenik-Halevy R.
      • Tepper R.
      • Fishman A.
      • Biron-Shental T.
      • Markovitch O.
      Diagnostic accuracy, work-up, and outcomes of pregnancies with clubfoot detected by prenatal sonography.
      ,
      • Canto M.J.
      • Cano S.
      • Palau J.
      • Ojeda F.
      Prenatal diagnosis of clubfoot in low-risk population: associated anomalies and long-term outcome.
      ,
      • Zionts L.E.
      • Zhao G.
      • Hitchcock K.
      • Maewal J.
      • Ebramzadeh E.
      Has the rate of extensive surgery to treat idiopathic clubfoot declined in the United States?.

      Summary

      Clubfoot is a common congenital malformation of the foot and ankle. It can involve one or both feet and can be an isolated finding or associated with other anomalies. Diagnosis should include a detailed ultrasound examination to look for associated anomalies and genetic counseling and diagnostic testing. Timing and route for labor and delivery are not altered for isolated cases. Prognosis depends on associated conditions and underlying genetic abnormalities, but the majority of cases can be corrected with manipulation and serial casting postnatally.

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        Descriptive epidemiology of idiopathic clubfoot.
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        Diagnostic accuracy, work-up, and outcomes of pregnancies with clubfoot detected by prenatal sonography.
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        Prenatal diagnosis of clubfoot: Chromosomal abnormalities associated with fetal defects and outcome in a tertiary center.
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        • Sairam S.
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        A case of prenatal isolated talipes and 22q11.2 deletion syndrome-an important chromosomal disorder missed by noninvasive prenatal screening.
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