Prenatal prevalence of skeletal dysplasias and a proposal ultrasonographic diagnosis approach

Abstract

Objective: To determine the prevalence of fetal bone dysplasias diagnosed at the Department of Maternal Fetal Medicine (UNIMEF) of the Instituto Nacional de Perinatologia (INPer); and to describe the most frequent skeletal dysplasias and to propose a diagnostic flow chart.

Materials and methods: This is a case series study including skeletal dysplasias cases from January 1995 until December 2009 at the UNIMEF Statistical analysis was performed using SPSS 12 statistical software.

Results: A total of 81,892 births were registered at the institution during the study period. The prevalence of bone dysplasia was 8.1 per 10,000 births. We used a diagnostic flow chart that was developed at our institution to diagnose skeletal dysplasias. Micromelia (n = 40, 59.7%) and both rhizomelia and mesomelia (n = 17, 25.3%) were highly prevalent. We found other structural anomalies in 40 cases (61.1%), which were associated with different skeletal dysplasias; these other anomalies were mainly congenital heart diseases (12 cases) with a predominance of ventricular septal defects. There was polyhydramnios in 43.2% of cases. The mean of the gestational age at diagnosis was 24.5 weeks (SD 5.66). The karyotype was obtained in 11.9% (8/67) of cases. A total of 7 stillbirths and 11 neonatal deaths were registered, of which only 10 cases received a necropsy. Births occurred in the third trimester for 88% of cases, of which 85% were born via Cesarean section, whereas in the second trimester, the vaginal approach was chosen in 100% of cases.

Conclusions: The prenatal diagnosis of bone dysplasias is challenging due to the late development of the diagnostic features. Nevertheless, using ultrasonography in a systematic approach, in conjunction with a multidisciplinary approach, is a key factor in the diagnosis of this disease during the fetal period.