Prenatally Diagnosed Fetal Split‐Hand/Foot Malformations Often Accompany a Spectrum of Anomalies

Abstract

The purpose of this series was to identify cases that appeared on sonography to be split-hand/foot malformations (SHFMs) in fetuses and correlate the sonographic findings, including 2-dimensional (2D) and 3-dimensional (3D) sonography, to outcomes. A retrospective review was conducted of sonographic studies from 2002 to 2012 at 2 fetal care centers. Data were collected with respect to the morphologic characteristics of split-hand/foot abnormalities, the utility of 3D sonography, associated anatomic abnormalities, family histories, gestational ages at diagnosis, fetal outcomes, karyotype, and autopsy results. Ten cases were identified with gestational ages ranging from 15 to 29 weeks. Three-dimensional sonography was helpful in defining anatomy in 7 of 9 cases in which it was performed. Bilateral SHFMs were found in 7 cases (3 cases involving both hands and feet, 2 cases isolated to hands, and 2 cases isolated to feet), whereas 3 cases showed unilateral split-hand malformations. Associated anatomic anomalies were present in 6 cases, and 4 of these had recognized syndromes, including 2 with abnormal karyotypes, specifically, del(22q11) and del(7q31). Two cases occurred in the context of a positive family history of SHFM. Three cases were delivered at term, and 7 cases were electively terminated. In conclusion, SHFMs often occur with a broad range of chromosomal abnormalities, single-gene disorders, and other congenital anomalies. Some apparent SHFMs turn out to be other limb anomalies, such as complex syndactyly. Prenatal screening using 2D sonography can identify SHFMs, and 3D sonography often further clarifies them.