Confined placental mosaicism
, MD, PhD, Federico Badano2
1. Inner Vision Womens Ultrasound, Nashville, TN, US.
2. FB - Diagnóstico por Imágenes, Entre Ríos, Argentina.
A young woman with unremarkable history came to our office for first trimester ultrasound screening.
The result revealed a low risk pregnancy with normal nuchal translucency screening at 13 weeks 6 days of gestational age. During the ultrasound examination we noticed an abnormal placenta, with microcystic changes and we suggested a Fetal DNA. The result was trisomy 13.
We followed up the pregnancy and the fetus did not show any structural abnormality in any ultrasound control.
The baby was born at term and karyotype was normal, but after a few days developed alteration of glucose metabolism, blood preasure and renal failure, and died a month later, still of unknown issue.
Despite the outcome, this case represents a trisomy 13 confined to placenta (confined placenta mosaicism), and illustrates a case of false positive fetal DNA according to reports in the literature.