Three-dimensional multiplanar ultrasound in a limb-body wall complex fetus: clinical evidence for counseling

Abstract

A rare dysmorphologic fetal anomaly at the 17th week of gestation was suspected during a second trimester routine scan for fetal and maternal screening data. First findings were significant for a severe abdominal wall defect, limb and foot compromised positions. Fetal biometry was appropriate in biparietal diameter and head circumference measurements; the long upper bones were normal both for length and development. The patient was referred to a prenatal unit to complete the sonographic diagnosis. Two- and three-dimensional sonographic investigations were performed and techniques were complementary for fetal maldevelopment specification. Limb-body wall complex with lumbosacral spine torsion and lower limbs with severely abnormal features were identified. With 2D color Doppler, a heart defect was confirmed and the umbilical cord was missing from the amniotic cavity. An invasive procedure by amniocentesis was made to ascertain alpha-fetoprotein levels and fetal karyotype. Following parental counseling, pregnancy was terminated and feto-pathological examination confirmed the sonographic diagnosis. The 17-week fetus affected by limb-body wall complex is reported herein; 2D and 3D scans of the fetus identified organ displacement due to a combination of very early events.