Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.16/1724
Título: A 26-Year Experience in Chorionic Villus Sampling Prenatal Genetic Diagnosis
Autor: Jorge, P.
Mota-Freitas, M.
Santos, R.
Silva, M.
Soares, G.
Fortuna, A.
Palavras-chave: chorionic villus sampling
prenatal diagnosis
prenatal referrals
maternal age
fetal loss
chromosomal abnormality/aneuploidy
maternal cell contamination
monogenic disorders
Data: 2014
Editora: MDPI - Open Access Publishing
Citação: J. Clin. Med. 2014, 3, 838-848; doi:10.3390/jcm3030838
Resumo: Abstract: This report describes the trends of chorionic villus sampling (CVS) referred for prenatal genetic diagnosis in the past two and a half decades in a Portuguese Center. Our cohort of 491 CVS was mostly performed by the transcervical method at the 12th gestational week. Data collected within the framework of this study relate to the following: sampling method, referral reason versus abnormality and incidence of procedure-related pregnancy loss, that declined to about 0.5% over the last 15 years. The year 2000 represented a change in referral reasons for chorionic tissue collection, shifting from almost exclusively for cytogenetic testing to an increasing number of molecular tests for monogenic disorders. Herein, success rates as well as cytogenetic and/or molecular DNA results are presented. These latter include not only tests for several monogenic disorders, but also aneuploidy and maternal cell contamination screening. This retrospective analysis reiterates that CVS is a safe and reliable first trimester technique for prenatal diagnosis in high genetic risk pregnancies.
Peer review: yes
URI: http://hdl.handle.net/10400.16/1724
DOI: 10.3390/jcm3030838
ISSN: 2077-0383
Versão do Editor: http://www.mdpi.com/2077-0383/3/3/838
Aparece nas colecções:G - Artigos publicados em revistas não indexadas na Medline
DH - Artigos publicados em revistas não indexadas na Medline
CGMDJM - Artigos publicados em revistas não indexadas na Medline

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