Advances in transvaginal and transabdominal sonography allow physicians to diagnose a clubfoot deformity early in gestation. The incidence of this condition is 1.2 per thousand Caucasian births. This information is valuable to parents since 14% of infants with a clubfoot deformity will have other congenital anamalies.1 A multidisciplinary Israeli team met with 12 couples (13 fetuses) that had 9 bilateral and 4 unilateral (total 22) clubfeet diagnosed in utero by transabdominal sonography (1995–1997). The average menstrual age at diagnosis was 23.6 weeks (range, 17–36). The 13 fetuses were followed after birth to determine if a clubfoot was present at birth and to document if any other congenital anomalies were present. The infants were also followed to determine whether the deformity was corrected by serial casting or required surgical correction.
Three of the fetuses (23%) had associated congenital anomalies including and omphalocele, congential scoliosis, cardiac abnormalities, and arthrogryposis multiplex congenita. In 2 of these cases, the parents elected to terminate the pregnancy, and, in the third case, the newborn developed cardiac complications and died at 2 weeks of age. In one case the prenatal diagnosis of a clubfoot deformity was incorrect since the newborn had a normal foot at birth. Fourteen of the 22 clubfeet that were diagnosed by prenatal sonography did not respond to serial casting and required surgical correction.
Prenatal ultrasound is highly sensitive in detecting a clubfoot deformity. Previous investigators have noted an increased incidence of clubfeet in first-born infants and in mothers with oligohydramnios, suggesting that the etiology was secondary to intrauterine crowding.2 In the present study, the amniotic fluid volume and fetal lower extremity motion were normal, suggesting a primary genetic etiology for some clubfoot deformities. These authors believe that the early diagnosis of a clubfoot deformity allows more time for parental counseling by the multidisciplinary team consisting of a perinatologist, a geneticist, a neonatologist, and a pediatric orthopaedist. The possibility of terminating a pregnancy based on these findings raises ethical as well as moral issues. The authors acknowledge that parents do not always follow the advice of the team and refer to a case where a fetus was found to have bilateral clubfeet and the parents elected to terminate the pregnancy despite advice to the contrary.3 Medical ethicists will hopefully help us to resolve some of the difficult questions raised by this new technology.
This study raised far more questions that it answers. The knowledge that ultrasound interpretations are not 100% specific in making this diagnosis, and also that these interpretations may result in a termination of pregnancy that may be unwarranted, raises significant concerns as to the benefits versus the risk of this increasingly available radiologic modality.