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001-es BibID:	BIBFORM074281
Első szerző:	Grendar, Marian
Cím:	Decreasing the no call rate of Non-Invasive Prenatal Testing / Marian Grendar, Dusan Loderer, Iveta Svecova, Zuzana Laucekova, Michaela Hrtankova, Andrea Hornakova, Balint Nagy, Zora Lasabova, Jan Danko
Dátum:	2018
Megjegyzések:	The no call (or failure) rate is an important characteristics of any diagnostic, testing, or screening method. Failures of the read counting approach to Non-Invasive Prenatal Testing (NIPT) are primarily caused by the low fetal fraction. If fetal fraction is below a value, known as the Limit of Detection (LoD), then NIPT cannot determine the aneuploidy status of a fetus. The LoD can be estimated experimentally or by the coverage method. The coverage method implies that the LoD, and hence also the no call rate due to the low fetal fraction, can be made arbitrarily small by increasing the sequencing depth. The no call rate can be made arbitrarily small also by excluding from NIPT the pregnancies suspect of having fetal fraction below the LoD (e.g., due to the low gestational age, high maternal BMI, etc.). These methods of decreasing the no call rate have obvious drawbacks.Explorations of the quantitative foundations of NIPT lead a variant of NIPT that for a fixed sequencing depth attains the no call rate lower than the conventional NIPT and is particularly useful for the subpopulation of pregnancies with the high maternal BMI, and/or low gestational week.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idézhető absztrakt Non-Invasive Prenatal Testing quantitative foundations
Megjelenés:	Biomedical Papers. - 162 : Suppl. 1 (2018), p. S3. -
További szerzők:	Loderer, Dusan Svecova, Iveta Laucekova, Zuzana Hrtankova, Michaela Hornakova, Andrea Nagy Bálint (1956-) (molekuláris genetikus) Lasabova, Zora Danko, Jan
Internet cím:	Intézményi repozitóriumban (DEA) tárolt változat
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