Abnormal non-invasive prenatal test results concordant with karyotype of cytotrophoblast but not reflecting abnormal fetal karyotype

摘要: We present a unique case in which non-invasive and invasive prenatal diagnoses showed abnormal, but discordant, results. A patient with abnormal test (NIPT) results, indicating 99% risk for monosomy X, was referred to our center genetic counseling confirmatory studies. Cytogenetic analysis of uncultured mesenchymal core chorionic villi (CV) revealed mosaic male karyotype consisting two cell lines: one X the other an isodicentric chromosome Y. Array trophoblast confirmed NIPT Based on CV opted termination pregnancy. After extensive by clinical geneticist about possible outcomes gynecologist second-trimester abortion procedure, agreed undergo early amniocentesis. Amniocentesis that fetus had Y, single nucleotide polymorphism (SNP) array profile suggested absence line. The infant expected be infertile. finally decided continue Our confirms results are comparable those short-term cultured investigating cytotrophoblast. not aware reveal placental karyotype, sometimes may different from fetal karyotype. Pretest providing figures false-positive false-negative great importance order discourage women terminating pregnancies based alone. Copyright © 2014 ISUOG. Published John Wiley & Sons Ltd.