Lessons learned from rapid Exome Sequencing(rES)as a standard diagnostic test in a prenatal setting for fetuses with ultrasound abnormalities

Autor: Corsten-Janssen, N., Bouman, K., Scheper, A. J., Meems-Veldhuis, M. T., Verheij, J. B. G. M., Suijkerbuijk, R., Duin, L. K., Manten, G. T. R., van Langen, I. M., Sikkema-Raddatz, B., Westers, H., van Diemen, C. C.

Publikováno v: European Journal of Human Genetics, 28(SUPPL 1), 169-170. Nature Publishing Group

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=narcis______::ebbdeab637978532d32ccc36ff348df8
https://research.rug.nl/en/publications/321846ab-a45f-4dcd-b179-df98d4506e07

Facial profile markers in second- and third-trimester fetuses with trisomy 18

Autor: Vos, F. I., De Jong-Pleij, E. A P, Bakker, M., Tromp, E., Manten, G. T R, Bilardo, C. M.

Publikováno v: Ultrasound in Obstetrics & Gynecology, 46(1), 66-72. Wiley
Vos, F I, De Jong-Pleij, E A P, Bakker, M, Tromp, E, Manten, G T R & Bilardo, C M 2015, ' Facial profile markers in second-and third-trimester fetuses with trisomy 18 ', Ultrasound in Obstetrics and Gynecology, vol. 46, no. 1, pp. 66-72 . https://doi.org/10.1002/uog.14662
Ultrasound in Obstetrics and Gynecology, 46(1), 66-72. John Wiley and Sons Ltd
Ultrasound in Obstetrics and Gynecology, 46(1), 66. John Wiley and Sons Ltd

Objectives To evaluate nasal bone length (NBL), maxilla-nasion-mandible (MNM) angle, fetal profile (FP) line, prenasal thickness (PT), prenasal thickness to nasal bone length (PT:NBL) ratio and prefrontal space ratio (PFSR) as markers of trisomy 18 i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::a02d1756a16298612bc29f48e76fba82
https://dspace.library.uu.nl/handle/1874/350340

Detection of fetal chromosomal anomalies : Does nuchal translucency measurement have added value in the era of non-invasive prenatal testing?

Autor: Lichtenbelt, K. D., Diemel, B. D M, Koster, M. P H, Manten, G. T R, Siljee, J., Schuring-Blom, G. H., Page-Christiaens, G. C M L

Publikováno v: Prenatal Diagnosis, 35(7), 663. John Wiley and Sons Ltd

OBJECTIVES: The objective of this study is to determine what percentage of fetal chromosomal anomalies remains undetected when first trimester combined testing is replaced by non-invasive prenatal testing for trisomies 13, 18, and 21. We focused on t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::fb3c7c77584fa7ae501297b8f0ab5518
https://dspace.library.uu.nl/handle/1874/331313

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.