title: Prenatal diagnosis of clubfoot: Chromosomal abnormalities associated with fetal defects and outcome in a tertiary center.
abstract: OBJECTIVE
  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.
authors.affiliation: CHU de Caen, Département d'Obstétrique, Gynécologie et Médecine de la Reproduction, Caen, 14000, France.|CHU de Caen, Département de Statistiques, Avenue Clémenceau, 14033 Caen Cedex 9, France.
authors.forename: Benjamin
authors.initials: B
authors.lastname: Viaris de le Segno
authors.affiliation: CHU de Caen, Département de Statistiques, Avenue Clémenceau, 14033 Caen Cedex 9, France.|CHU de Caen, Département de Cytogénétique Prénatale, Caen, 14000, France.
authors.forename: Nicolas
authors.initials: N
authors.lastname: Gruchy
authors.affiliation: CHU de Caen, Département d'Orthopédie Pédiatrique, 14033 Caen Cedex 9, France.
authors.forename: Corinne
authors.initials: C
authors.lastname: Bronfen
authors.affiliation: CHU de Caen, Département d'Obstétrique, Gynécologie et Médecine de la Reproduction, Caen, 14000, France.
authors.forename: Patricia
authors.initials: P
authors.lastname: Dolley
authors.affiliation: CHU de Caen, Département de Statistiques, Avenue Clémenceau, 14033 Caen Cedex 9, France.|CHU de Caen, Département de Cytogénétique Prénatale, Caen, 14000, France.
authors.forename: Nathalie
authors.initials: N
authors.lastname: Leporrier
authors.affiliation: CHU de Caen, Département de Statistiques, Avenue Clémenceau, 14033 Caen Cedex 9, France.|Université de Caen Basse-Normandie, Esplanade de la Paix, 14032 Caen Cedex 5, France.
authors.forename: Christian
authors.initials: C
authors.lastname: Creveuil
authors.affiliation: CHU de Caen, Département d'Obstétrique, Gynécologie et Médecine de la Reproduction, Caen, 14000, France.|CHU de Caen, Département de Statistiques, Avenue Clémenceau, 14033 Caen Cedex 9, France.
authors.forename: Guillaume
authors.initials: G
authors.lastname: Benoist
mesh_terms: D000328:Adult; D002869:Chromosome Aberrations; D003025:Clubfoot / Q000150:complications / Q000000981:diagnostic imaging* / Q000235:genetics*; D005260:Female; D006330:Heart Defects, Congenital / Q000150:complications; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012189:Retrospective Studies; D012307:Risk Factors; D055815:Young Adult
keywords: clubfoot; outcome; prenatal diagnosis; talipes equinovarus; ultrasonography