Prenatal diagnosis of isolated bilateral clubfoot: Is amniocentesis indicated?

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.

Exposure to corticosteroids in the first trimester is associated with an increased risk of urogenital congenital anomalies.

STUDY QUESTION: Does maternal exposure to first trimester corticosteroids in IVF/ICSI treatment result in an increased risk of congenital anomalies? SUMMARY ANSWER: Children born with the aid of IVF/ICSI whose mothers were treated with adjuvant corticosteroids during the first trimester had an increased risk of cryptorchidism, hypospadias and talipes. WHAT IS KNOWN ALREADY: Maternal exposure to corticosteroids may increase the risk of congenital anomalies such as cleft palate and neural tube defects. However, the existing studies have conflicting outcomes, are underpowered, and do not study a population undergoing IVF/ICSI, a group known to be at increased risk of abnormalities. STUDY DESIGN, SIZE, DURATION: This retrospective cohort analysis covering Monash IVF fertility clinics in Melbourne, Australia assessed the outcomes of 12 426 live births from both fresh and frozen embryo transfers between 2010 and 2016. PARTICIPANTS/MATERIALS, SETTING, METHODS: There were 618 live births included in our study group of mothers exposed to corticosteroids (oral prednisolone or dexamethasone) during their IVF/ICSI treatment, with the remainder of births not exposed to steroids (control, n = 11 808). The primary outcome measured was the presence of congenital anomalies and secondary outcomes were birth weight and gestation length. Multivariate binary logistic regression was used to assess the independent effects of corticosteroid exposure and the freezing of embryos, with adjustment for maternal age at oocyte retrieval, smoking status, number of cycles taken, BMI, etiology of the infertility and the use of ICSI. Results are presented as incidence rate ratios (IRRs) with 95% CIs. MAIN RESULTS AND THE ROLE OF CHANCE: Amongst 12 426 live births, and 597 birth defects, multivariate logistic regression demonstrated there was an increased incidence in talipes equinovarus (1.33% vs 0.32%, adjusted IRR = 4.30, 95% CI = 1.93, 9.58; P < 0.001), hypospadias (0.66% vs 0.18%, adjusted IRR = 5.90, 95% CI = 2.09, 16.69; P = 0.001) and cryptorchidism (0.83% vs 0.19%, adjusted IRR = 5.53, 95% CI = 1.91, 15.42; P = 0.001) in the offspring of mothers exposed to corticosteroids compared to those who were unexposed. The incidence of neither neural tube defects nor cleft palate were significantly increased in babies exposed to corticosteroids. The sex ratio of infants exposed to corticosteroids during a fresh embryo transfer cycle significantly favored males but reverted to the normal sex ratio in infants conceived in frozen embryo transfer cycles. LIMITATIONS, REASONS FOR CAUTION: This was a retrospective observational cohort study using administrative datasets with the potential for measurement error and unobserved confounding. Missing outcome data were obtained from patients using self-report leading to possible ascertainment bias. Given the rare incidence of some of the anomalies assessed, the study was underpowered to identify differences in abnormality rates for some specific anomalies. WIDER IMPLICATIONS OF THE FINDINGS: The findings of this study, the largest of its kind, suggest that caution should be heeded when prescribing corticosteroids to women undergoing IVF/ICSI, given that this study has now identified three previously unassociated serious neonatal complications (talipes, hypospadias and cryptorchidism), plus a potential alteration in sex ratio. Physicians should be careful in using corticosteroids in the critical first trimester and should counsel patients regarding the potential risks of this treatment. STUDY FUNDING/COMPETING INTEREST(S): There was no funding sought or obtained for this study. K.T., V.T., B.V. and D.Z.-F. are employees or contractors to Monash IVF and hold a minority stock position in Monash IVF. R.J.W. reports no conflict of interest. TRIAL REGISTRATION NUMBER: N/A.

Myelomeningocele sac associated with worse lower-extremity neurological sequelae: evidence for prenatal neural stretch injury?

OBJECTIVE: To determine whether the presence of a myelomeningocele (MMC) sac and sac size correlate with compromised lower-extremity function in fetuses with open spinal dysraphism. METHODS: A radiology database search was performed to identify cases of MMC and myeloschisis (MS) diagnosed prenatally in a single center from 2013 to 2017. All cases were evaluated between 18 and 25 weeks. Ultrasound reports were reviewed for talipes and impaired lower-extremity motion. In MMC cases, sac volume was calculated from ultrasound measurements. Magnetic resonance imaging reports were reviewed for hindbrain herniation. The association of presence of a MMC sac and sac size with talipes and impaired lower-extremity motion was assessed. Post-hoc analysis of data from the multicenter Management of Myelomeningocele Study (MOMS) randomized controlled trial was performed to confirm the study findings. RESULTS: In total, 283 MMC and 121 MS cases were identified. MMC was associated with a lower incidence of hindbrain herniation than was MS (80.9% vs 100%; P < 0.001). Compared with MS cases, MMC cases with hindbrain herniation had a higher rate of talipes (28.4% vs 16.5%, P = 0.02) and of talipes or lower-extremity impairment (34.9% vs 19.0%, P = 0.002). Although there was a higher rate of impaired lower-extremity motion alone in MMC cases with hindbrain herniation than in MS cases, the difference was not statistically significant (6.6% vs 2.5%; P = 0.13). Among MMC cases with hindbrain herniation, mean sac volume was higher in those associated with talipes compared with those without talipes (4.7 ± 4.2 vs 3.0 ± 2.6 mL; P = 0.002). Review of the MOMS data demonstrated similar findings; cases with a sac on baseline imaging had a higher incidence of talipes than did those without a sac (28.2% vs 7.5%; P = 0.007). CONCLUSIONS: In fetuses with open spinal dysraphism, the presence of a MMC sac was associated with fetal talipes, and this effect was correlated with sac size. The presence of a larger sac in fetuses with open spinal dysraphism may result in additional injury through mechanical stretching of the nerves, suggesting another acquired mechanism of injury to the exposed spinal tissue. Copyright © 2019 ISUOG. Published by John Wiley & Sons Ltd.

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

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.

A national estimate of the birth prevalence of congenital anomalies in India: systematic review and meta-analysis.

BACKGROUND: A quarter of all global neonatal deaths occur in India. Congenital anomalies constitute the fifth largest cause of neonatal mortality in the country, but national estimates of the prevalence of these conditions are lacking. The objective of the study was to derive an estimate of the birth prevalence of congenital anomalies in India. METHODS: The search was carried out in PubMed and pooled prevalence was estimated using the inverse variance method. A random effects model was used due to high heterogeneity between the studies. Forest plots were generated using the Review Manager software. RESULTS: The PubMed search identified 878 articles from which 52 hospital based and three community based studies were included in the meta-analysis. The pooled prevalence of congenital anomaly affected births was 184.48 per 10,000 births (95% CI 164.74-204.21) among 802,658 births. Anomalies of the musculoskeletal system were highest among live births while the prevalence of central nervous system defects was highest when stillbirths were included in the analysis. Anencephaly and talipes were the most commonly reported anomalies. CONCLUSIONS: Data from this meta-analysis suggests that there may be as many as 472,177 (421,652 to 522,676) congenital anomaly affected births in India each year. Population based studies using standard definitions are needed to validate these estimates. The two most frequently reported anomalies were anencephaly that is potentially preventable through preconception folate supplementation, and talipes which can be corrected using relatively low cost interventions. Studies are needed to determine the impact of congenital anomalies on neonatal mortality in India.

Birth prevalence of congenital talipes equinovarus in low- and middle-income countries: a systematic review and meta-analysis.

OBJECTIVE: Congenital talipes equinovarus (CTEV), or clubfoot, is a structural malformation that develops early in gestation. Birth prevalence of clubfoot is reported to vary both between and within low- and middle-income countries (LMICs), and this information is needed to plan treatment services. This systematic review aimed to understand the birth prevalence of clubfoot in LMIC settings. METHODS: Six databases were searched for studies that reported birth prevalence of clubfoot in LMICs. Results were screened and assessed for eligibility using pre-defined criteria. Data on birth prevalence were extracted and weighted pooled estimates were calculated for different regions. Wilcoxon rank-sum test was used to examine changes in birth prevalence over time. Included studies were appraised for their methodological quality, and a narrative synthesis of findings was conducted. RESULTS: Forty-eight studies provided data from 13 962 989 children in 20 countries over 55 years (1960-2015). The pooled estimate for clubfoot birth prevalence in LMICs within the Africa region is 1.11 (0.96, 1.26); in the Americas 1.74 (1.69, 1.80); in South-East Asia (excluding India) 1.21 (0.73, 1.68); in India 1.19 (0.96, 1.42); in Turkey (Europe region) 2.03 (1.54, 2.53); in Eastern Mediterranean region 1.19 (0.98, 1.40); in West Pacific (excluding China) 0.94 (0.64, 1.24); and in China 0.51 (0.50, 0.53). CONCLUSION: Birth prevalence of clubfoot varies between 0.51 and 2.03/1000 live births in LMICs. A standardised approach to the study of the epidemiology of clubfoot is required to better understand the variations of clubfoot birth prevalence and identify possible risk factors.

[Application of chromosomal microarray analysis for fetuses with talipes equinovarus].

OBJECTIVE: To investigate the application of fetuses with talipes equinovarus(TE)using chromosomal microarray analysis(CMA)technology. METHODS: From May 2012 to June 2015, 54 fetuses were found with TE and with or without other structural anomalies by prenatal ultrasound. Karyotyping was taking for them all, and the fetuses with normal karyotypes took another CMA test. The data were analyzed with CHAS software. Finally all the cases were followed up to know about their pregnancy outcomes. RESULTS: One of the 54 cases was detected with abnormal karyotype which was trisomy 18(2%, 1/54). CMA was undertaken to the remaining fetuses, they were divided into 2 groups, including isolated TE group(n= 38)and complex TE group(n=15). The detection rate of clinical significant copy number variations(CNV)by CMA was 11%(6/53), while isolated and complex TE group were 5%(2/38)and 4/15, respectively(P= 0.047). Of the 53 cases, 51 cases were successfully followed up. Eleven cases were found without TE after birth, and the false positive rate(FPR)of TE was 22%(11/51). CONCLUSIONS: Whole-genome high-resolution CMA increased the detection rate by 11% in fetuses with TE. With the FPR and the detection rate of the clinical significant CNV of 2 groups, whole-genome CMA could be recommended to the fetuses with complex TE group but normal karyotypes. A series of ultrasonic tests should be suggested to the isolate TE group, while with the abnormal ultrasound, fetuses would be suggested to have CMA test for decreasing the rates of invasive prenatal diagnosis and FPR.

Congenital idiopathic talipes equinovarus before and after walking age: observations and strategy of treatment from a series of 88 cases.

BACKGROUND: We reviewed a series of newborns, toddlers and ambulating children affected by idiopathic congenital talipes equinovarus (clubfoot). Taking into account the time of diagnosis, stiffness of the deformity and walking age, nonsurgical or surgical treatment was considered. This study reports clinical outcomes, early complications and relapse at mid-term follow-up. MATERIALS AND METHODS: Fifty-two clubfeet were diagnosed at birth, 12 in non-ambulating children aged between 4 and 12 months and 24 in ambulating children. Feet were classified using the Pirani score. Newborns and toddlers were treated with serial casting (Ponseti); however, toddlers also underwent open Achilles tendon lengthening (2 feet) and posteromedial release (3 feet). In all ambulating children, surgical treatment was always performed: selective medial release combined with cuboid subtraction osteotomy (1 foot), posteromedial release (6 feet), and posteromedial release combined with cuboid subtraction osteotomy (17 feet). RESULTS: The average follow-up was 5 years (1-6 years). In newborns treated with Ponseti, the results were excellent in 42 feet, good in 6, and poor in 4. In non-ambulating children, the results were excellent in 9 feet, and good in 3. In ambulating children, the results were excellent in 5 feet, good in 16, and poor in 3. No major complications were reported. No overcorrections were observed. The need for open surgery was higher in cases of delayed treatment. In cases of relapse, re-casting and/or more extensive surgery was considered. CONCLUSIONS: Early treatment enables a high rate of good correction to be obtained with serial casting and limited surgery. Conversely, if the deformity is observed after walking age surgery should be considered. Serial casting in cases of late observation and relapse have demonstrated encouraging results. LEVEL OF EVIDENCE: IV.

[Four years follow up in congenital talipes equino varus patients managed with Ponseti method]. / Seguimiento por cuatro años de pacientes con pie equinovaro aducto congénito manejados con método Ponseti.

INTRODUCTION: Congenital talipes equino varus (club foot) is a frequent congenital deformity of the foot. The Ponseti method is the gold standard for treatment. It consists of foot manipulation with weekly serial cast, minimally invasive surgery and Dennis-Brown bar up to five years. OBJECTIVE: To describe the follow-up of patients with PEVAC treated using the Ponseti method. MATERIAL AND METHODS: Descriptive, longitudinal study, during 2013-2019, in patients with PEVAC managed with Ponseti method. We included patients with uni- or bilateral club foot, under two years of age, without prior surgery, whose parents signed informed consent. Patients with other malformations were excluded. Serial weekly cast was placed for 4-8 weeks, a tenotomy of the Achilles tendon was performed, and cast for three more weeks; then reverse footwear with Dennis-Brown bar. The revisions were recorded at day zero, at eight weeks and every three months up to five years of age. Correction of deformity and pain on walking was assessed. RESULTS: There were 22 patients; 17 (77.3%) corrected more than 90% of the deformity, with adequate functionality and 86.3% without pain on gait, mean follow-up 3.9 years (1-7 years); six patients relapsed (27.27%) due to poor attachment, one re-treated with cast, and five with anterior tibial transfer, all successfully. CONCLUSIONS: The club foot managed with Ponseti method corrects more than 90% of the deformity and without or minimal pain with good adherence to treatment. We had a 27.27% recurrence in our series.

INTRODUCCIÓN: El pie equinovaro aducto congénito (PEVAC) es una deformidad congénita frecuente del pie. El método Ponseti es el estándar de oro para el tratamiento. Consiste en la manipulación del pie con yesos seriados semanales, una cirugía mínimamente invasiva y barra Dennis-Brown hasta los cinco años. OBJETIVO: Describir el seguimiento de los pacientes con PEVAC tratados mediante método Ponseti. MATERIAL Y MÉTODOS: Estudio descriptivo, longitudinal, durante 2013-2019, en pacientes con PEVAC manejados con método Ponseti. Se incluyeron pacientes con PEVAC uni- o bilateral, menores de dos años, sin cirugía previa, cuyos padres firmaron consentimiento informado. Se excluyeron pacientes con otras malformaciones. Se colocó yeso semanal seriado por cuatro a ocho semanas, se realizó tenotomía del tendón de Aquiles y yeso por tres semanas más; luego calzado de horma inversa con barra Dennis-Brown. Se registraron las revisiones al día cero, a las ocho semanas y cada tres meses hasta los cinco años de edad. Se valoró la corrección de la deformidad y el dolor a la marcha. RESULTADOS: Fueron 22 pacientes; 17 (77.3%) corrigieron más de 90% de la deformidad, con adecuada funcionalidad y 86.3% sin dolor a la marcha, seguimiento medio de 3.9 años (uno a siete años); seis pacientes tuvieron recidiva (27.27%) por mal apego, uno retratado con yesos y cinco con transferencia de tibial anterior, todos con éxito. CONCLUSIONES: El PEVAC manejado con método Ponseti corrige más de 90% de la deformidad y sin o mínimo dolor con buen apego al tratamiento. Tuvimos una recidiva de 27.27% en nuestra serie.

Supramalleolar osteotomy combined with lateral ligament reconstruction and talofibular immobilization for varus ankle osteoarthritis with excessive talar tilt angle.

BACKGROUND: Although supramalleolar osteotomy is the main joint-preserving method for the treatment of varus ankle osteoarthritis, it tends to be ineffective when ankle osteoarthritis presents in combination with an excessive talar tilt angle. The purpose of this study was to present a new surgical technique, supramalleolar osteotomy combined with lateral ligament reconstruction and talofibular immobilization, for the treatment of varus ankle osteoarthritis with an excessive talus tilt angle and to evaluate the clinical and radiological results. METHODS: From January 2013 to October 2016, a total of 17 patients with 17 cases of varus ankle arthritis with excessive talar tilt angles (larger than 7.3°) underwent surgical treatment using our new technique. The American Orthopaedic Foot and Ankle Society (AOFAS) clinical ankle-hindfoot scale and a visual analogue scale (VAS) were used to evaluate ankle function and pain before surgery and at the last follow-up. The medial distal tibial angle (MDTA), anterior distal tibial angle (ADTA), talar tilt angle (TTA), and hindfoot moment arm values (HMAVs) were evaluated on weight-bearing radiographs acquired preoperatively and at the last follow-up. RESULTS: The AOFAS score improved significantly from 45.8 ± 2.1 before surgery to 84.8 ± 1.8 after surgery (p < 0.001), and the VAS score decreased from 4.9 ± 0.4 to 1.1 ± 0.2 (p < 0.001). The MDTA, TTA, and HMAV changed from 80.9° ± 0.4° to 90.1° ± 0.4°, 11.7° ± 0.6° to 1.4° ± 0.3°, and 12.6 mm ± 0.8 mm to 4.2 mm ± 0.6 mm, respectively (each p < 0.001). The ADTA showed no obvious change (p = 0.370). The staging of 11 cases (65%) improved. Intramuscular vein thrombosis of the lower limbs occurred in 1 patient 1 week after surgery, and superficial infection occurred in 1 patient. CONCLUSIONS: Supramalleolar osteotomy combined with lateral ligament reconstruction and talofibular immobilization can correct the load of the weight-bearing ankle and effectively improve the ankle function. As the talar tilt angle can be significantly improved after surgery, this technique can be used for the treatment of varus ankle osteoarthritis with an excessive TTA.

Impact of guidance and telemonitoring on foot flexibility due to postural congenital clubfoot in the first month of life: a longitudinal descriptive study / Impacto da orientação e do telemonitoramento na flexibilidade dos pés devido ao pé torto congênito postural no primeiro mês de vida: um estudo descritivo longitudinal

INTRODUCTION: Early intervention is essential for proper foot growth in postural congenital clubfoot (PCC), but little is known about its contribution to this deformity when subjects are evaluated through telemonitoring. OBJECTIVE: This study aimed to monitor the foot's flexibility of newborns diagnosed with PCC by telemonitoring them during the first months of life. METHODS: A longitudinal descriptive study was carried out with a full-term newborns group diagnosed with PCC in at least one limb, presenting a grade ≥ 0,5 on the Pirani score. Newborns with other malformations were excluded. They were assessed twice: before and 30 days after hospital discharge, and the foot flexibility classification by the Pirani score was provided. The telemonitoring occurred weekly between the assessments, and the parents were encouraged to mobilize their feet and maintain foot position using orthosis or taping. RESULTS: Thirteen newborns (eighteen feet) presenting PCC were included in this study; seven neonates discontinued the study due to absences from pre-scheduled evaluations, and six were telemonitored for 30 days. They were born at 39 weeks (± 1.18) and 3346.54 g (± 306.51). The majority of the newborns were female (69%), one was born vaginally, and eight (61%) had a family history of PCC. Pirani's score ranged from 1 to 3 in the initial assessment. After one month of telemonitoring, three feet progressed to 0, and four feet scored between 0.5 and 1. CONCLUSION: This study shows an important improvement in the foot's flexibility of newborns diagnosed with PCC evaluated through telemonitoring. Telemonitoring may be an additional resource for assisting newborns with PCC.

INTRODUÇÃO: A intervenção precoce é essencial para o correto crescimento do pé torto congênito postural (PTC), mas pouco se sabe sobre sua contribuição para essa deformidade quando os pacientes são avaliados por meio de telemonitoramento. OBJETIVO: Este estudo teve como objetivo acompanhar, por telemonitoramento, a flexibilidade do pé de recém-nascidos com diagnóstico de PTC durante os primeiros meses de vida. MÉTODOS: Foi realizado um estudo descritivo longitudinal com recém-nascidos a termo, diagnosticados com PTC em pelo menos um pé, apresentando escore de Pirani ≥ 0,5. Foram excluídos recém-nascidos com outras malformações. Os recém-nascidos foram avaliados nas primeiras horas de vida e 30 dias após a alta hospitalar. Durante este período os pais foram incentivados a mobilizar os pés diariamente e manter a posição por meio de órtese ou bandagem. O telemonitoramento ocorreu semanalmente, e a flexibilidade dos pés foi classificada pelo escore de Pirani. RESULTADOS: Foram incluídos neste estudo treze recém-nascidos (dezoito pés), sete descontinuaram o estudo por faltas nas tentativas de contato e seis foram telemonitorados por 30 dias. A maioria dos RN era do sexo feminino (69%), nasceram com 39 semanas (± 1,18) e 3.346,54g (± 306,51). Um nasceu de parto normal e oito (61%) tinham histórico familiar de PTC. Inicialmente, a pontuação de Pirani variou de 1 a 3. Após 30 dias de telemonitoramento, três pés evoluíram para 0 e quatro pontuaram entre 0,5 e 1. CONCLUSÃO: Este estudo mostra uma melhora importante na flexibilidade do pé de recém-nascidos com diagnóstico de PTC, avaliados por telemonitoramento. O telemonitoramento pode ser um recurso adicional para assistência ao recém-nascido com PTC.

Diagnóstico prenatal, síndrome Freeman-Sheldon mediante ultrasonido y estudio genético. Reporte de caso / Prenatal diagnosis of Freeman-Sheldon syndrome using ultrasound and genetic testing. Case report

Objetivos: Describir un caso de diagnóstico prenatal de síndrome de Freeman-Sheldon mediante hallazgos ecográficos y secuenciación completa del exoma fetal. Materiales y métodos: Mujer de 33 años, con antecedentes de hipotiroidismo en tratamiento, a quien en semana 19 se realizó ecografía de detalle anatómico, en la cual se observaron deformidades en el feto en más de dos áreas corporales (extremidades superiores e inferiores), sugiriendo el diagnóstico de artrogriposis. Posteriormente, se brindó asesoría genética y se realizó amniocentesis en semana 20 de gestación, con análisis de la hibridación in situ por fluorescencia, seguido de secuenciación completa del exoma fetal. Este último examen permitió identificar una variante patogénica heterocigota en el gen MYH3, la cual se asocia con la artrogriposis distal tipo 2A. Conclusiones: La realización de la secuenciación completa de exoma fetal es un factor clave para identificar la mutación del gen MYH3, y confirma que las deformidades evidenciadas por ultrasonido estaban relacionadas con la artrogriposis distal tipo 2A. Es importante hacer la secuenciación de exoma fetal en fetos que muestren hallazgos de malformaciones articulares en el ultrasonido prenatal.

Objectives: To describe a case of prenatal diagnosis of Freeman-Sheldon syndrome based on ultrasound findings and complete fetal exome sequencing. Materials and methods: A 33-year-old woman currently on treatment for hypothyroidism in whom a 19-week detailed anatomical ultrasound scan showed fetal deformities in more than two body areas (upper and lower limbs), suggesting a diagnosis of arthrogryposis. Genetic counseling was provided and amniocentesis was performed at 20 weeks for fluorescence in situ hybridization (FISH) analysis and complete fetal exome sequencing, with the latter allowing the identification of a heterozygous pathogenic variant of the MYH3 gene which is associated with type 2A distal arthrogryposis. Conclusions: Complete fetal exome sequencing was a key factor in identifying the MYH3 gene mutation and confirmed that the deformities seen on ultrasound were associated with type 2A distal arthrogryposis. It is important to perform complete fetal exome sequencing in cases of joint malformations seen on prenatal ultrasound.

Difficult intubation in a neonate: a diagnostic dilemma.

Difficult intubation in neonates has innumerable aetiologies. It especially poses a formidable challenge to save a newborn baby immediately after birth where antenatal details are unavailable. A late preterm neonate was born limp and apnoeic. Several attempts to intubate the baby were unsuccessful. Possibility of subglottic obstruction was considered. The baby died of severe perinatal asphyxia. Autopsy showed a mass around the airway which turned out to be ectopic thymus on histopathology. Ectopic thymus can present as periglottic mass without externally visible cervical swelling and can cause difficult intubation which may lead to serious adverse outcome including death if not anticipated early and managed accordingly.

The Association of Forefoot Varus Deformity with Patellofemoral Cartilage Damage in Older Adult Cadavers.

Forefoot alignment may contribute to patellofemoral joint (PFJ) osteoarthritis (OA) via its influence on the closed chain kinematics of the lower limb. The purpose of this cadaveric study was to investigate the relationship between forefoot varus and ipsilateral cartilage damage in the medial and lateral PFJ. Forefoot alignment measurements were obtained from the feet of 25 cadavers (n = 50). Cartilage damage in the medial and lateral PFJ of each knee was scored using the Outerbridge scale. The relative odds of medial and lateral PFJ cartilage damage in limbs with forefoot varus and valgus were determined using logistic regression. The relationship between increasing varus alignment and increasing odds of medial and lateral PFJ cartilage damage was assessed. Of the 51% of limbs with forefoot varus, 91.3% had medial, and 78.3% had lateral PFJ cartilage damage, compared with 54.6% and 68.2% of those with forefoot valgus. The former also had 3.0 times (95% CI 1.2, 7.7) the odds of medial PFJ damage; no association was found with lateral damage (OR 1.4, 95% CI 0.7, 3.0). Feet in the highest tertile of varus alignment had 3.9 times (95% CI 10, 15.3, P = 0.058) the odds of medial PFJ damage as those in the lowest tertile. The results of this study suggest a relationship between forefoot varus and medial PFJ cartilage damage in older adults. As forefoot varus may be modified with foot orthoses, these findings indicate a potential role for orthoses in the treatment of medial PFJ OA. Anat Rec, 300:1032-1038, 2017. © 2016 Wiley Periodicals, Inc.

The hybrid method for the treatment of congenital talipes equinovarus: preliminary results on 92 consecutive feet.

Over the past 4 years, our pediatric orthopedic unit has developed a new hybrid protocol combining the advantages of Ponseti's method and the French functional physiotherapy method. Sixty-one patients (92 feet) completed treatment. Clubfoot was unilateral in 30 (49.2%) patients and bilateral in 31 (50.8%) patients. The mean Dimeglio score at the start of treatment was 13.5/20 (range: 6/20-19/20). All patients had clinical and radiographic follow-up for at least 2 years (range: 2-4 years). If orthopedic treatment was ineffective and feet showed no improvement, further surgery was performed. Posterior release was performed in eight (8.7%) feet. Clinical evaluation at the last follow-up found a mean dorsal flexion of 20°±5° (range: 5°-35°). The hybrid method is a combination approach applying the strengths of Ponseti's method, that is, serial casting, and the French physiotherapy method, that is, manipulations and radiographs, to achieve long-term correction with a foot that is fully functional and pain free.

Association between a Maternal History of Miscarriages and Birth Defects.

BACKGROUND: Some studies, mainly in the older literature, observed a significant association between miscarriages and birth defects (BDs) occurring in the same sibship. However, few studies examined the BD/miscarriage relationship in depth. In addition nothing has been added to the underlying mechanisms possibly linking both events. The purpose of this work was to identify specific BDs associated with maternal miscarriages. In particular, it examined whether the risk depended on the number of losses, and to suggest the existence of specific factors for each BD/miscarriage association observed. METHODS: The study relied on the Latin American Collaborative Study on Congenital Malformations (ECLAMC) database registries including 26,906 live and stillborn infants with one of 19 selected isolated BDs and 93,853 normal controls. Infants born to primigravid mothers were excluded from the present study. Demographic and reproductive variables were compared between control mothers With and Without previous miscarriages. The number, frequency, and distribution of miscarriages were observed for each BD and controls. A conditional logistic regression was applied to evaluate the miscarriage risk for each BD. RESULTS: Control mothers with previous miscarriages were older, had had more pregnancies, and were less educated. Three risk patterns of miscarriages were observed: a very high risk of miscarriages associated with gastroschisis, omphalocele, and talipes; only one miscarriage associated with spina bifida, and two or more miscarriages associated with hypospadias. CONCLUSION: These three patterns suggest that different factors underly each BD/miscarriage association: infertility for hypospadias, vascular disruption for gastroschisis and talipes, while for spina bifida, the much debated trophoblastic cell residue theory could not be discarded. Birth Defects Research 109:254-261, 2017. © 2017 Wiley Periodicals, Inc.

Fibula extension and correction of foot and ankle deformity to rectify post-osteomyelitis talipes equinovarus in a young adult: a case report and literature review.

OBJECTIVE: Talipes equinovarus is traditionally viewed in the literature as a congenital disease. CASE REPORT: We present here a case of the acquired talipes equinovarus (clubfoot) in a young adult patient that has developed the following osteomyelitis. RESULTS: We have successfully corrected this condition by fibula extension and correction of foot and ankle deformity, using external fixation device. The treatment period has extended over three years and involved two operations. CONCLUSIONS: This case report will increase awareness of adult orthopedists on acquired talipes equinovarus and propose orthopedic reconstructive strategies to rectify this condition.

Tratamiento del pie zambo congénito a lo largo de la historia / Congenital clubfoot treatment throughout history

El tratamiento del pie zambo congénito ha evolucionado a lo largo de la historia. Desde la Antigüedad hasta finales de la Edad Media se utilizaron las manipulaciones e inmovilizaciones seriadas. Del Renacimiento al siglo XVII se crearon las primeras ortesis. En el siglo XVIII comenzó el uso de moldes de yeso y se desarrollaron ortesis y calzados complejos. El período del siglo XIX hasta la tercera década del XX, se caracterizó por la práctica de las tenotomías, siendo la cirugía el principal enfoque terapéutico. En el siglo XX, Joseph Kite e Ignacio Ponseti describieron su eficaz método no quirúrgico, lo que produjo el regreso a las manipulaciones e inmovilizaciones seriadas frente a la cirugía agresiva. Cuando se revisa la historia del tratamiento del pie zambo, sorprende ver que los médicos tratantes cometían los mismos errores una y otra vez, porque ignoraban constantemente lo que ya habían aprendido de sus antecesores y, en su lugar, a menudo se veían confundidos por las nuevas informaciones o tendencias. En el siglo XXI, los avances en biología celular, genética molecular, diagnóstico por la imagen, biomecánica y biomateriales hacen prever que se puedan diseñar tratamientos personalizados para los pacientes con pie zambo(AU)

Congenital clubfoot treatment has evolved throughout history. Serial manipulations and immobilizations were used from antiquity to the end of the Middle Ages. From the Renaissance to the 17th century the first orthotics were created. In the 18th century, the use of plaster casts began and complex orthotics and footwear developed. The period from 19th century until the third decade of the 20th century was characterized by the practice of tenotomies, with surgery being the main therapeutic approach. In the 20th century, Joseph Kite and Ignacio Ponseti described their effective non-surgical method, which led to the return to serial manipulations and immobilizations in the face of aggressive surgery. When reviewing the history of clubfoot treatment, it is surprising to see that the treating doctors made the same mistakes over and over again because they constantly ignored what they had already learned from their predecessors and, instead, were often confused by the new ones information or trends. In the 21st century, advances in cell biology, molecular genetics, diagnostic imaging, biomechanics and biomaterials suggest that personalized treatments can be designed for patients with clubfoot(AU)

Congenital Clubfoot - Is the Ponseti Method the Definitive Solution? / Pé torto congênito - O método Ponseti é a solução definitiva?

Abstract Congenital clubfoot is one of the most common deformities at birth. The inadequacy or absence of treatment causes serious limitations for people with this condition. The initial treatment using the Ponseti method ensures functional results superior to other treatment modalities previously proposed. However, recurrences and neglected feet are still a challenge today. An understanding of the pathophysiology of the disease, as well as of the anatomy and local biomechanics and a thorough clinical and radiological evaluation of patients are essential to understanding the limits of the method and choosing the best treatment.

Resumo O pé torto congênito é uma das deformidades mais comuns ao nascimento. A inadequação ou ausência do tratamento provoca sérias limitações aos portadores desta condição. O tratamento inicial pelo método Ponseti garante resultados funcionais superiores a outras modalidades de tratamento propostas anteriormente, porém as recidivas e os pés negligenciados ainda são um desafio na atualidade. O entendimento da fisiopatologia da doença, da anatomia e biomecânica local e uma minuciosa avaliação clínica e radiológica dos pacientes são imprescindíveis para entendermos o limite do método e escolhermos o melhor tratamento.