Prevalence: 1:10,000 live births Etiology: Autosomal trisomy (47, +13)
Pathogenesis: The pathogenesis is unknown.
Differential diagnosis:
-
Other chromosomic anomalies (trisomy 18 and 21)
-
Non-related chromosomic alterations renal dysplasia
-
Smith-Lemli-Opitz syndrome
Associated anomalies: capillary hemangioma, pseudostrabismus, cutis aplasia, ductal arterial permeability, microphthalmia, etc.
Prognosis: Most fetuses die while in-utero or during childhood. If they survive, these children may have severe development anomalies.
Recurrence risk: The recurrence risk varies according to the chromosomic defect and the maternal age. For trisomy 13, the risk of recurrence of trisomy 13 or any other clinically viable trisomy (trisomy 18 or 21) is of about 0.5% over the inherent risk to the maternal age.
Management: If trisomy 13 is diagnosed, the parents should be counseled about the poor prognosis. The interruption of the pregnancy may be offered. At birth the newborn with trisomy 13 are very irritable and generally present with hypotonia, hypertonia or myoclonia. Surgical procedures are usually delayed until the infant is several months old due to high perinatal mortality. Older children often develop scoliosis, visual alterations because of lack of retina development, and severe neurological and physical defects.
Prevalence: 1:10,000 live births Etiology: Autosomal trisomy (47, +13)
Pathogenesis: The pathogenesis is unknown.
Differential diagnosis:
-
Other chromosomic anomalies (trisomy 18 and 21)
-
Non-related chromosomic alterations renal dysplasia
-
Smith-Lemli-Opitz syndrome
Associated anomalies: capillary hemangioma, pseudostrabismus, cutis aplasia, ductal arterial permeability, microphthalmia, etc.
Prognosis: Most fetuses die while in-utero or during childhood. If they survive, these children may have severe development anomalies.
Recurrence risk: The recurrence risk varies according to the chromosomic defect and the maternal age. For trisomy 13, the risk of recurrence of trisomy 13 or any other clinically viable trisomy (trisomy 18 or 21) is of about 0.5% over the inherent risk to the maternal age.
Management: If trisomy 13 is diagnosed, the parents should be counseled about the poor prognosis. The interruption of the pregnancy may be offered. At birth the newborn with trisomy 13 are very irritable and generally present with hypotonia, hypertonia or myoclonia. Surgical procedures are usually delayed until the infant is several months old due to high perinatal mortality. Older children often develop scoliosis, visual alterations because of lack of retina development, and severe neurological and physical defects.