2019
DOI: 10.1002/ccr3.2389
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Detection of SRY‐positive46,XX male syndrome by the analysis of cell‐free fetal DNA via non‐invasive prenatal testing

Abstract: We report a new case of 46,XX male syndrome that was detected following an anomalous result by non‐invasive prenatal testing (NIPT) and a discrepancy between the fetal karyotype and the ultrasonographic investigation. With the increasing use of NIPT, more gender discordances can be identified prenatally and be amenable to early therapy.

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Cited by 5 publications
(4 citation statements)
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“…The software uses a counting‐based algorithm to generate the log-likelihood ratio (LLR) scores for chromosomes 13, 18, and 21, as well as NCV_X and NCV_Y scores for sex classification for each sample. LLR thresholds for calling a sample high or low risk were internally validated, and a decision tree was agreed upon for handling failures [ 21 ]. Samples failed when the sequencing coverage was judged insufficient based on the fetal fraction estimate for the sample, as indicated by the Individualized Fetal Fraction Confidence Test (iFACT), which is a quality control parameter of the VeriSeq TM NIPT Solution v1.…”
Section: Methodsmentioning
confidence: 99%
“…The software uses a counting‐based algorithm to generate the log-likelihood ratio (LLR) scores for chromosomes 13, 18, and 21, as well as NCV_X and NCV_Y scores for sex classification for each sample. LLR thresholds for calling a sample high or low risk were internally validated, and a decision tree was agreed upon for handling failures [ 21 ]. Samples failed when the sequencing coverage was judged insufficient based on the fetal fraction estimate for the sample, as indicated by the Individualized Fetal Fraction Confidence Test (iFACT), which is a quality control parameter of the VeriSeq TM NIPT Solution v1.…”
Section: Methodsmentioning
confidence: 99%
“…In our case the NIPS analysis reported a sex chromosomes aneuploidy detected as XXX genotype. As previously reported [ 24 ], the evaluation of the “raw data” for this sample and the comparison of the NIPT results to all clinical validated Triple X cases ([ 15 ] and unpublished data) allowed us to suspect the presence of more than three X chromosomes. Chromosomal analysis on amniocytes from the amniotic fluid showed the 49,XXXXX karyotype, confirming our suspicion.…”
Section: Discussionmentioning
confidence: 83%
“…The software uses a counting-based algorithm to generate the log-likelihood ratio (LLR) scores for chromosomes 13, 18, and 21, as well as NCV_X and NCV_Y scores for sex classi cation for each sample. LLR thresholds for calling a sample high or low risk were internally validated, and a decision tree was agreed upon for handling failures [21]. Samples failed when the sequencing coverage was judged insu cient based on the foetal fraction estimate for the sample, as indicated by the Individualized Fetal Fraction Con dence Test (iFACT), which is the quality control parameter of the VeriSeq TM NIPT Solution v1.…”
Section: Sample Collection and Processingmentioning
confidence: 99%