Prenatal diagnosis and false negative result for a case of Down Syndrome with normal karyotype
DOI:
https://doi.org/10.18597/rcog.668Keywords:
Prenatal diagnosis, Down syndrome, normal karyotype, false negative result, neonatal leukemiaAbstract
We present the case of a 38 year-old woman attended in our prenatal diagnosis program due to fetal growth retardation, shortening of long bones, polyhydramnios. She underwent transabdominal amniocentesis at 29 weeks of gestation, and cytogenetic study was done, finding a normal karyotype 46, XY. At 32 weeks, a caesarean operation was performed because of acute fetal distress, obtaining a masculine newborn with phenotype features concordant to down syndrome. After the birth we did blood tests and also skin karyotypes (these last ones after his death). The samples were analyzed in our institution and in a reference laboratory. All the studies revealed a normal karyotipe 46, XY. Down syndrome with normal karyotype is an infrequent situation, but it establishes a rare limitation of the prenatal diagnosis.Author Biographies
Luis Arturo Lizcano-Gil
Katya Burgos
Diego Fernando Guarín
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