Detecting fetal subchromosomal aberrations by MPS: an unexpected discrepancy between amniocyte DNA and ccffDNA

作者：Buysse Karen; de Ligt Joep; Janssen Irene M; van Bon Bregje W M; Gomes Ingrid; Hehir Kwa Jayne; Eggink Alex J; van Vugt John M G; Vissers Lisenka E L M; van Kessel Ad Geurts; Faas Brigitte H W^*

来源：Prenatal Diagnosis, 2014, 34(4): 402-405.

DOI：10.1002/pd.4312

What's already known about this topic?
Noninvasive prenatal detection of fetal aneuploidies by massively parallel sequencing of circulating cell-free fetal DNA has recently become widely available.
Few studies report the detection of submicroscopic chromosomal aberrations.
What does this study add?
A ~400 kb gain and a ~27 Mb loss were detected on chromosome 13q by genomic microarray analysis of amniocyte DNA. Testing circulating cell-free fetal DNA not only revealed the same loss but also a much larger gain (~12 Mb), indicating discrepancies between DNA of true fetal and placental origin.
The use of a windowed approach is recommended in case of unexpected 'whole chromosome' noninvasive prenatal testing results and/or when fetal anomalies are suggestive for subchromosomal aberrations.

• 出版日期2014-4