Expanding the indications for cell-free DNA in the maternal circulation: clinical considerations and implications

Autor: Di Renzo, Gian Carlo, Bartha, José Luis, Bilardo, Catia M.

Publikováno v: In American Journal of Obstetrics and Gynecology June 2019 220(6):537-542

Antenatal Workup of Early Megacystis and Selection of Candidates for Fetal Therapy.

Autor: Fontanella, Federica, Duin, Leonie, Adama van Scheltema, Phebe N., Cohen-Overbeek, Titia E., Pajkrt, Eva, Bekker, Mireille, Willekes, Christine, Bax, Caroline J., Oepkes, Dick, Bilardo, Catia M., Adama van Scheltema, Phebe N, Cohen-Overbeek, Titia E, Bax, Caroline J, Bilardo, Catia M

Publikováno v: Fetal Diagnosis & Therapy; Mar2019, Vol. 45 Issue 3, p155-161, 7p

Trial by Dutch Laboratories for Evaluation of Non-Invasive Prenatal Testing. Part I - Clinical Impact

Autor: Oepkes, Dick, Page-Christiaens, Lieve C, Bax, Caroline J, Bekker, Mireille N, Bilardo, Catia M, Boon, Elles M J, Schuring-Blom, G Heleen, Coumans, Audrey B C, Faas, Brigitte H, Galjaard, Robert-Jan H, Go, Attie T, Henneman, Lidewij, Macville, Merryn V E, Pajkrt, Eva, Suijkerbuijk, Ron F, Huijsdens-vanAmsterdam, Karin, Van Opstal, Diane, Verweij, E J Joanne, Weiss, Marjan M, Sistermans, Erik A, Dutch NIPT Consortium

OBJECTIVE: To evaluate the clinical impact of nationwide implementation of genome-wide Non-Invasive Prenatal Testing (NIPT) in pregnancies at increased risk for fetal trisomies 21, 18 and 13. METHOD: Women with elevated risk based on first trimester

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_____10691::95427f66c87cefd9da8bfddb290f4db6
https://dspace.library.uu.nl/handle/1874/343382

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Cardiovascular disorders among persons with down syndrome

Autor: Vis, Jeroen C., van Engelen, Klaartje, Bouma, Berto J., Bilardo, Catia M., Blom, Nico A., Mulder, Barbara J M

Publikováno v: Vis, J C, van Engelen, K, Bouma, B J, Bilardo, C M, Blom, N A & Mulder, B J M 2010, ' Cardiovascular disorders among persons with down syndrome ', International Review of Research in Mental Retardation, vol. 39, no. C, pp. 165-194 . https://doi.org/10.1016/S0074-7750(10)39006-9
INTERNATIONAL REVIEW OF RESEARCH IN MENTAL RETARDATION, 39, 165-194. Academic Press Inc.
International Review of Research in Mental Retardation, 39(C), 165-194. Academic Press Inc.

Down syndrome is the most common chromosomal abnormality among liveborn infants and is the most frequent chromosomal cause of intellectual disability (Frid, Drott, Lundell, Rasmussen, & Anneren, 1999). It is a multisystem disorder, characterized by v

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::963f5fe3014d52b60f5671be4d65e5a3
https://research.vumc.nl/en/publications/fb53e36e-8200-41f8-b44f-d665758f7cae