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J. Clin. Med. 2014, 3(3), 838-848; doi:10.3390/jcm3030838

A 26-Year Experience in Chorionic Villus Sampling Prenatal Genetic Diagnosis

1
Center of Medical Genetics Doutor Jacinto Magalhães, Oporto Hospital Center, C.H.P., EPE, Praça Pedro Nunes, 88, 4099-028 Porto, Portugal
2
Unit for Multidisciplinary Research in Biomedicine, UMIB, ICBAS-UP, Rua Jorge Viterbo Ferreira 228, 4050-313 Porto, Portugal
These authors contributed equally to this work.
*
Author to whom correspondence should be addressed.
Received: 4 May 2014 / Revised: 20 June 2014 / Accepted: 23 June 2014 / Published: 24 July 2014
(This article belongs to the Special Issue Prenatal Genetic Screening and Diagnosis-Part 2)
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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. View Full-Text
Keywords: chorionic villus sampling; prenatal diagnosis; prenatal referrals; maternal age; fetal loss; chromosomal abnormality/aneuploidy; maternal cell contamination; monogenic disorders chorionic villus sampling; prenatal diagnosis; prenatal referrals; maternal age; fetal loss; chromosomal abnormality/aneuploidy; maternal cell contamination; monogenic disorders
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Jorge, P.; Mota-Freitas, M.M.; Santos, R.; Silva, M.L.; Soares, G.; Fortuna, A.M. A 26-Year Experience in Chorionic Villus Sampling Prenatal Genetic Diagnosis. J. Clin. Med. 2014, 3, 838-848.

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