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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.
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%).
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).
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.
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.
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%).
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.
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
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Skeletal dysplasias such as Ellis van Creveld syndrome, diastrophic dysplasia, chondrodysplasia punctata, camptomelic dysplasia, atelosteogenesis, and mesomelic dysplasia
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Neuromuscular conditions that include arthrogryposis multiplex congenita, myotonic dystrophy, and spinal muscular atrophy
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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.
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.
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.
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.
Estimates for cases that require postnatal surgical intervention have been reported to range from 12–50%, although surgical treatment has been decreasing with time.
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.
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.
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