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

Journal of Clinical Medicine

Paula Jorge¹  Maria Manuela Mota-Freitas¹  Rosário Santos¹  Maria Luz Silva¹  Gabriela Soares¹ 

[1] Center of Medical Genetics Doutor Jacinto Magalhães, Oporto Hospital Center, C.H.P., EPE, Praça Pedro Nunes, 88, 4099-028 Porto, Portugal; E-Mails:

关键词: chorionic villus sampling;    prenatal diagnosis;    prenatal referrals;    maternal age;    fetal loss;    chromosomal abnormality/aneuploidy;    maternal cell contamination;    monogenic disorders;   

DOI  :  10.3390/jcm3030838

来源: mdpi

【 摘 要 】

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.

【 授权许可】

CC BY   
© 2014 by the authors; licensee MDPI, Basel, Switzerland.