[Analysis of two false positive cases from noninvasive prenatal testing].

• DOI: 10.3760/cma.j.issn.1003-9406.2014.06.022
• Publication Date: 2014-12-01
• Authors: Xuejiao Chen; Meizhen Dai; Weiwu Shi; Yingqiu Pan; Weiguo Zhang; Yang Zhang; WU Zhi-qiang
• Keywords: Trisomy; Massive parallel sequencing

To track and analyze two false positive cases from non-invasive prenatal testing for potential fetal aneuploidy.The cases, respectively reported to have XO (+++) T18 (1/20) XO(+), were analyzed with conventional karyotyping, fluorescence in situ hybridization (FISH) massively parallel genomic sequencing (MPS).The first fetus, who was suspected XO(+++), verified super female syndrome (47,XXX/46,XX) due confined placental mosaicism by karyotyping of amniotic fluid cells, FISH analysis placenta (MPS) tissue. The second trisomy 18 Turner MPS analyses umbilical cord blood cells. And the karyotype 45,X[48]/46, X, der(X) del(X) (p11.21) (q13.3)[62].Non-invasive carries a risk diagnosis sex chromosome 18. Combined cytogenetic molecular techniques are required ensure an accurate diagnosis.