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Origin and clinical relevance of chromosomal aberrations other than the common trisomies.

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eMediNexus    18 November 2017

A recent article published Genetics in Medicine reported on the origin frequency and clinical significance of other chromosome aberrations besides fetal trisomies 21 18 and 13 found in pregnancies at risk for these trisomies. This experiment entailed whole genome shallow massively parallel sequencing and an analysis of all autosomes. It was observed that in 3.1 of cases non invasive prenatal screening NIPS was indicative of trisomy 21 18 or 13 and in 1.6 cases of other chromosome aberrations. Other aberrations were documented to be either fetal n 8201 8201 10 placental n 8201 8201 22 maternal n 8201 8201 1 or unknown n 8201 8201 7 . Whereas one case lacked cytogenetic follow up. While nine of the 10 fetal cases were associated with an abnormal phenotype 13 of the 22 placental aberrations were associated with fetal congenital anomalies and or poor fetal growth which was severe in six cases. Thus it was stated that genome wide NIPS in pregnancies at risk for trisomy 21 18 or 13 reveals a chromosomal aberration other than trisomy 21 18 or 13 in about one third of the abnormal cases. A majority of these cases involve a fetal or placental chromosome aberration with clinical relevance for pregnancy management.

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