Pre- and postnatal diagnosis of limb anomalies: a series of 107 cases

Abstract

This is a 3-year retrospective study of 107 cases presenting with limb anomalies detected either on prenatal ultrasound scan, or after birth. These limb malformations are developmental anomalies, and can be isolated, syndromic, or associated with multiple malformations. Cases were ascertained through the prenatal diagnosis center, the pediatrics department, and the feto-pathology department. Several criteria were analyzed including sex ratio, prenatal diagnosis, karyotype, termination of pregnancies, clinical or pathological examination, pediatric or surgical and/or genetic assessment, and whether or not a diagnosis was made. Positional deformities and syndactyly were excluded. Limb anomalies were detected prenatally in 45% of the cases, and a diagnosis was made in 78%, including isolated, syndromic, or chromosomal anomalies. Sixty-one per cent of the infants had follow-up, either pediatric, surgical, or genetic. Prenatal multidisciplinary assessment is fundamental to assist with counseling, as is the post-natal follow-up of the infant. The diagnosis, if made, will obviously influence the information that will be given to the parents and the management of the malformation. If the pregnancy is terminated, feto-pathological examination is essential to help make a diagnosis, and guide recurrence risks. We are currently undertaking a prospective study, and we will develop a protocol of investigations in the future, depending on the type of the malformation identified.