Diagnosis and counseling of fetal and neonatal HCMV infection.

Fetal HCMV infection is investigated by amniocentesis when a maternal primary infection is diagnosed or ultrasound (US/MRI) abnormalities are observed. In fetal blood, prognostic markers of symptomatic congenital infection may be evaluated for parental counseling. At birth, viral load measurement in body fluids may correlate with long-term sequelae, but the prognostic accuracy of symptomatic infection increases when maternal, fetal, and neonatal parameters are combined.

Unexpected results in the constitution of small supernumerary marker chromosomes.

Traditional approaches for the classification of Small Supernumerary Marker Chromosomes (sSMC), mostly based on FISH techniques, are time-consuming and not always sufficient to fully understand the true complexity of this class of rearrangements. We describe four supernumerary marker chromosomes that, after array-CGH, were interpreted rather differently in respect to the early classification made by conventional cytogenetics and FISH investigations, reporting two types of complex markers which DNA content was overlooked by conventional approaches: 1. the sSMC contains non-contiguous regions of the same chromosome and, 2. the sSMC, initially interpreted as a supernumerary del(15), turns out to be a derivative 15 to which the portion of another chromosome was attached. All are likely derived from partial trisomy rescue events, bringing further demonstration that germline chromosomal imbalances are submitted to intense reshuffling during the embryogenesis, leading to unexpected complexity and changing the present ideas on the composition of supernumerary marker chromosomes.