Guzmán-Huerta ME, Morales AS , Benavides-Serralde A, Camargo-Marín L, Velázquez-Torres B, Gallardo-Gaona JM, Acevedo-Gallegos S, Martínez-Juárez A, Ramírez-Calvo JA

Language: English
References: 14
Page: 429-436
PDF size: 478.44 Kb.

ABSTRACT

Objective. To determine the prevalence of fetal bone dysplasias diagnosed at the Department of Maternal Fetal Medicine (UNIMEF) of the Instituto Nacional de Perinatología (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.

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