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Insights into non-informative results from non-invasive prenatal screening through gestational age, maternal BMI, and age analyses.
Gazdarica, Juraj; Forgacova, Natalia; Sladecek, Tomas; Kucharik, Marcel; Budis, Jaroslav; Hyblova, Michaela; Sekelska, Martina; Gnip, Andrej; Minarik, Gabriel; Szemes, Tomas.
Afiliación
  • Gazdarica J; Faculty of Natural Sciences, Comenius University, Bratislava, Slovakia.
  • Forgacova N; Geneton Ltd., Bratislava, Slovakia.
  • Sladecek T; Slovak Centre of Scientific and Technical Information, Bratislava, Slovakia.
  • Kucharik M; Faculty of Natural Sciences, Comenius University, Bratislava, Slovakia.
  • Budis J; Comenius University Science Park, Bratislava, Slovakia.
  • Hyblova M; Institute of Clinical and Translational Research, Biomedical Research Center, Slovak Academy of Sciences, Bratislava, Slovakia.
  • Sekelska M; Geneton Ltd., Bratislava, Slovakia.
  • Gnip A; Comenius University Science Park, Bratislava, Slovakia.
  • Minarik G; Geneton Ltd., Bratislava, Slovakia.
  • Szemes T; Comenius University Science Park, Bratislava, Slovakia.
PLoS One ; 19(3): e0280858, 2024.
Article en En | MEDLINE | ID: mdl-38452118
ABSTRACT
The discovery of cell-free fetal DNA fragments in the maternal plasma initiated a novel testing method in prenatal care, called non-invasive prenatal screening (NIPS). One of the limitations of NIPS is the necessity for a sufficient proportion of fetal fragments in the analyzed circulating DNA mixture (fetal fraction), otherwise, the sample is uninterpretable. We present the effect of gestational age, maternal body mass index (BMI), and maternal age on the fetal fraction (FF) of the sample. We retrospectively analyzed data from 5543 pregnant women with a single male fetus who underwent NIPS from which 189 samples received a repeat testing due to an insufficient FF. We showed the relationship between the failure rate of the samples after the repeated analysis, the FF, and the gestational age at the first sampling. Next, we found that different maternal BMI categories affect the FF and thus the chance of an informative redraw. A better understanding of the factors affecting the FF will reduce the number of non-informative calls from repeated analyzes. In this study, we provide helpful information to clinicians on how to approach non-informative analyses.
Asunto(s)

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Feto / Ácidos Nucleicos Libres de Células Límite: Female / Humans / Male / Pregnancy Idioma: En Revista: PLoS One Asunto de la revista: CIENCIA / MEDICINA Año: 2024 Tipo del documento: Article País de afiliación: Eslovaquia Pais de publicación: Estados Unidos

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Feto / Ácidos Nucleicos Libres de Células Límite: Female / Humans / Male / Pregnancy Idioma: En Revista: PLoS One Asunto de la revista: CIENCIA / MEDICINA Año: 2024 Tipo del documento: Article País de afiliación: Eslovaquia Pais de publicación: Estados Unidos