Prenatal screening for clubfoot: what factors predict prenatal detection?

Mahan, Susan T.; Yazdy, Mahsa M.; Kasser, James R.; Werler, Martha M.

doi:10.1002/pd.4320

Cited by 20 publications

(17 citation statements)

References 16 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Congenital clubfoot develops early in pregnancy and it can be detected by ultrasound from 12 weeks of gestation (Keret et al, ). The overall rate of prenatal detection of congenital clubfoot was reported to be around 60% in three states of the United States in 2006–2011 (Mahan, Yazdy, Kasser, & Werler, ). The prenatal detection rate was higher in cases associated with other anomalies (Mahan et al, ; Offerdal, Jebens, Blaas, & Eik‐Nes, ; Seravalli et al, ).…”

Section: Introductionmentioning

confidence: 99%

Congenital clubfoot in Europe: A population‐based study

Wang¹,

Barišić

Loane³

et al. 2019

American J of Med Genetics Pt A

View full text Add to dashboard Cite

We aimed to assess prevalence, birth outcome, associated anomalies and prenatal diagnosis of congenital clubfoot in Europe using data from the EUROCAT network, and to validate the recording of congenital clubfoot as a major congenital anomaly by EUROCAT registries. Cases of congenital clubfoot were included from 18 EUROCAT registries covering more than 4.8 million births in 1995-2011. Cases without chromosomal anomalies born during 2005-2009, were randomly selected for validation using a questionnaire on diagnostic details and treatment. There was 5,458 congenital clubfoot cases of which 5,056 (93%) were liveborn infants. Total prevalence of congenital clubfoot was 1.13 per 1,000 births (95% CI 1.10-1.16). Prevalence of congenital clubfoot without chromosomal anomaly was 1.08 per 1,000 births (95% CI 1.05-1.11) and prevalence of isolated congenital clubfoot was 0.92 per 1,000 births (95% CI 0.90-0.95), both with decreasing trends over time and large variations in prevalence by registry. The majority of cases were isolated congenital clubfoot (82%) and 11% had associated major congenital anomalies. Prenatal detection rate of isolated congenital clubfoot was 22% and increased over

show abstract

Section: Introductionmentioning

confidence: 99%

Congenital clubfoot in Europe: A population‐based study

Wang¹,

Barišić

Loane³

et al. 2019

American J of Med Genetics Pt A

View full text Add to dashboard Cite

show abstract

“…Previous studies have focused on the use of magnetic resonance after birth to determine the presence of muscle atrophy in clubfoot[17-19]. We first attempted to use ultrasound to prenatally diagnose muscle atrophy.…”

Section: Discussionmentioning

confidence: 99%

TAZ and myostatin involved in muscle atrophy of congenital neurogenic clubfoot

Sun¹,

Yang²,

Xie³

et al. 2019

WJCC

View full text Add to dashboard Cite

BACKGROUND Muscular atrophy is the basic defect of neurogenic clubfoot. Muscle atrophy of clubfoot needs more scientific and reasonable imaging measurement parameters to evaluate. The Hippo pathway and myostatin pathway may be directly correlated in myogenesis. In this study, we will use congenital neurogenic clubfoot muscle atrophy model to verify in vivo . Further, the antagonistic mechanism of TAZ on myostatin was studied in the C2C12 cell differentiation model. AIM To identify muscle atrophy in fetal neurogenic clubfoot by ultrasound imaging and detect the expression of TAZ and myostatin in gastrocnemius muscle. To elucidate the possible mechanisms by which TAZ antagonizes myostatin-induced atrophy in an in vitro cell model. METHODS Muscle atrophy in eight cases of fetal unilateral clubfoot with nervous system abnormalities was identified by 2D and 3D ultrasound. Western blotting and immunostaining were performed to detect expression of myostatin and TAZ. TAZ overexpression in C2C12 myotubes and the expression of associated proteins were analyzed by western blotting. RESULTS The maximum cross-sectional area of the fetal clubfoot on the varus side was reduced compared to the contralateral side. Myostatin was elevated in the atrophied gastrocnemius muscle, while TAZ expression was decreased. They were negatively correlated. TAZ overexpression reversed the diameter reduction of the myotube, downregulated phosphorylated Akt, and increased the expression of forkhead box O4 induced by myostatin. CONCLUSION Ultrasound can detect muscle atrophy of fetal clubfoot. TAZ and myostatin are involved in the pathological process of neurogenic clubfoot muscle atrophy. TAZ antagonizes myostatin-induced myotube atrophy, potentially through regulation of the Akt/forkhead box O4 signaling pathway.

show abstract

“…Even if its diagnosis in utero has been reported as early as 12 weeks of gestation [9], it is more commonly detected at 19-23 weeks, during the routine second-trimester ultrasound. Overall detection of clubfoot prenatally is reported to be around 60% [9,10].…”

Section: Introductionmentioning

confidence: 99%