RESUMEN
OBJECTIVE: To assess the likelihood of finding an etiopathogenic cause in an ultrasonographic prenatal diagnosis of holoprosencephaly. MATERIALS AND METHODS: From January 1996 to June 2010, 13 883 prenatal diagnoses through chorionic villus sampling or amniocentesis were made. Every fetus with holoprosencephaly at ultrasound was evaluated. Gestational age, additional ultrasound findings, and fetal karyotype were recorded. Molecular diagnosis and parental karyotype were studied, if relevant. RESULTS: Twenty-eight fetuses were diagnosed with holoprosencephaly (0.20%). All cases had additional ultrasound findings (100%). A definitive etiology was found in 23 cases (82.14%): karyotype was abnormal in 19 (67.9%) and normal in 8 (28.5%) cases. In the normal karyotype group, although molecular testing was performed in a few cases, one mutation of gene SIX 3 was diagnosed, one diagnosis of dysgnathia complex was made, and two fetuses presented Smith-Lemli-Opitz syndrome. No etiopathogenic diagnosis was made in five fetuses. CONCLUSIONS: Our results showed that a definitive etiology can be established in most cases of prenatal holoprosencephaly. Chromosomal anomalies were the most frequent finding. However, in euploid fetuses, molecular diagnosis is worthwhile, as different genes with different inheritance patterns may be responsible for this malformation. Thorough evaluation proved beneficial for assessing more accurate prognosis and recurrence risks.
Asunto(s)
Holoprosencefalia/diagnóstico por imagen , Holoprosencefalia/etiología , Ultrasonografía Prenatal , Adulto , Aberraciones Cromosómicas , Estudios de Cohortes , ADN/análisis , Ambiente , Femenino , Asesoramiento Genético , Predisposición Genética a la Enfermedad , Edad Gestacional , Holoprosencefalia/genética , Humanos , Cariotipo , Embarazo , Pronóstico , Recurrencia , Estudios Retrospectivos , Síndrome de Smith-Lemli-Opitz/genéticaRESUMEN
The wide variation in cerebral and facial phenotypes and the recognized etiologic heterogeneity of holoprosencephaly (HPE) contribute to the observed inter-study heterogeneity. High lethality during the early stages of embryonic and fetal development makes HPE detection age dependent. By reviewing 21 HPE epidemiologic articles, the observed prevalence rate differences can be largely explained by the pregnancy outcome status of the studied cohort: livebirth, stillbirth, and terminations of pregnancy (TOPs): lower than 1 per 10,000 when live and still births were included, higher when TOPs were included, and between 40 and 50 per 10,000 in two classical Japanese studies on aborted embryos. The increasing secular trend observed in some studies probably resulted from an increasing use of prenatal sonography. Ethnic variations in birth prevalence rates (BPRs) could occur in HPE, but the available data are not very convincing. Higher BPRs were generally observed in the less favored minorities (Blacks, Hispanics, Pakistanis), suggesting a bias caused by a lower prenatal detection rate of HPE, and consequently less TOPs. Severe ear defects, as well as microstomia, were part of the spectrum of HPE. Non-craniofacial anomalies, more frequently associated with HPE than expected, were genital anomalies (24%), postaxial polydactyly (8%), vertebral defects (5%), limb reduction defects (4%), and transposition of great arteries (4%). The variable female predominance, found in different HPE studies, could also depend on the proportion of early conceptions in each study sample, as males are more likely to be lost through spontaneous abortions.
Asunto(s)
Holoprosencefalia/epidemiología , Holoprosencefalia/etiología , Tasa de Natalidad , Femenino , Holoprosencefalia/etnología , Humanos , Masculino , Embarazo , Prevalencia , Factores de RiesgoRESUMEN
Amplio espectro de anormalidades del desarrollo intracraneano y de la región media de la cara, producido por una división incompleta o inexistente del prosencéfalo (lóbulo frontal del embrión) en los hemisferios cerebrales laterales. Se describen su embriología, incidencia, etiología, formas de presentación, malformaciones asociadas, diagnóstico prenatal, y diagnóstico diferencial.
Asunto(s)
Humanos , Embarazo , Recién Nacido , Femenino , Holoprosencefalia/diagnóstico , Holoprosencefalia/etiología , Holoprosencefalia/clasificación , Enfermedades Fetales/diagnóstico , Anomalías Congénitas , Ultrasonografía PrenatalRESUMEN
Amplio espectro de anormalidades del desarrollo intracraneano y de la región media de la cara, producido por una división incompleta o inexistente del prosencéfalo (lóbulo frontal del embrión) en los hemisferios cerebrales laterales. Se describen su embriología, incidencia, etiología, formas de presentación, malformaciones asociadas, diagnóstico prenatal, y diagnóstico diferencial.
Asunto(s)
Humanos , Embarazo , Recién Nacido , Femenino , Anomalías Congénitas , Enfermedades Fetales/diagnóstico , Holoprosencefalia/clasificación , Holoprosencefalia/diagnóstico , Holoprosencefalia/etiología , Ultrasonografía PrenatalRESUMEN
La holoprosencefalia es un defecto medio del cerebro con amplio espectro malformativo cuya forma extrema es la ciclopia y es el resultado de una falla en la división del prosencefalo, que involucra el desarrollo del cráneo y rostro fetal puede verse en recién nacidos vivos y más frecuente en mortinatos y abortos. Se reporta 2 casos en el Hospital Patrocinio Peñuela Ruiz del Seguro Social. Un lactante menor de 9 meses de edad quién presentó como única manifestación hemiparesia isquierda y al realizar tomografía de cráneo se evidencia holoprosencefalia lobar y preescolar de 4 años y 4 meses quién al momento de nacer presenta perímetro cefalico de 31 cms, pérdida de la relación cráneo facial, fontanela anterior puntiforme, hendidura palpebral oblicua, diámetros craneales a los rayos X inferior al percentil 50, cariotipo. Tomografía revela holoprosencefalia lobar. Actualmente ambos en condiciones estables. A nivel mundial no existe reporte de sobrevida más allá de los 2 años