SCE Frequency Measurement Could Be Useful in the Prenatal Diagnosis of Roberts Syndrome

Abstract

In a previously published article (Resta et al., 2006) on Robert's syndrome in prenatal diagnosis, a case of a 36-year-old woman and her 36-year-old, nonconsanguineous husband were presented. Our findings suggest the existence of nonsense mediated decay (NMD) variability which could account for the varying severity reported in carriers of identical mutations. Furthermore, fetal cells were used to evaluate the influence of premature centromere separation (PCS) on the sister chromatid exchange (SCE) and micronucleus (MN) frequency. Given the similar variation observed in the SCE frequencies, dependent on tissue/cell type (amniotic fluid sample, chorionic villus sampling) and duration of in vitro cultures (48 hours or 72 hours), the idea was that this new piece of information could be interesting. It seems that the SCE frequency increased proportionally to the cell cycle increasing (1° < 2° < 3° … n). Obviously, our observations are too scarce to draw conclusions, but further investigation could be useful to corroborate or dispute these results, considering that the two techniques, (MN and SCE), are simple to perform and do not require expensive laboratory equipment.

Expanding the mutation and clinical spectrum of Roberts syndrome

“…However, short limbs and intrauterine growth retardation have been detected in a number of fetuses with skeletal dysplasias (Witters et al ). To confirm the diagnosis of RBS/SC fetus, cytogenetic analysis of amniocytes was applied to detect PCS (Bukvic et al ). In the present study, patient 1 was diagnosed prenatally by 3D‐sonar, where upper and lower limbs reduction defects were detected.…”