Implementation and Validation of QF-PCR test for detection of aneuploidies in the clinic of Obstetrics and Gynecology - HC - FMUSP

• Grant number: 12/51806-2
• Support Opportunities: Research Grants - Research in Public Policies for the National Health Care System (PP-SUS)
• Start date: July 01, 2013
• End date: June 30, 2015
• Field of knowledge: Health Sciences - Medicine - Maternal and Child Health
• Agreement: CNPq - PPSUS
• Principal Investigator: Mario Henrique Burlacchini de Carvalho
• Grantee: Mario Henrique Burlacchini de Carvalho
• Host Institution: Faculdade de Medicina (FM). Universidade de São Paulo (USP). São Paulo , SP, Brazil
• City of the host institution: São Paulo

Abstract

The aneuploidies are among the most frequent chromosomal alterations being responsible for most cases of mental retardation, congenital malformations, disorders of sexual development and miscarriages. These changes occur because of errors dividing that result during meiosis in gametes with abnormal number of chromosomes. The trisomy 21 (Down syndrome), the 13 (Patau syndrome), the 18 (Edwards syndrome) and chromosomal abnormalities involving the sex chromosomes as Turner's syndrome and Klinefelter are the aneuploidies most commonly found in the population. Screening and confirmatory diagnosis of fetal chromosomal aneuploidies are routinely offered in the centers of prenatal diagnosis. The screening tests are offered to all pregnant women in order to estimate what are the risks of the fetus has a chromosomal abnormality. The diagnosis is made by karyotype analysis and culture of fetal cells extracted from samples of amniotic fluid or chorionic villi. The microscopic chromosome analysis of cultured cells has been considered a gold standard technique for the diagnosis of chromosomal disorders. However, this technique takes about two weeks to be performed due to the necessity of growing sufficient numbers of cells in culture, and the time spent with the analysis and interpretation of results. In the early '90s, QF-PCR (quantitative fluorescent polymerase chain reaction) has emerged as a method used for biomolecular detection of aneuploidies in order to promote a rapid diagnosis. This test is based upon the visualization and quantification of small repetitive sequences of DNA using fluorescent probes. Studies confirm that QF-PCR is a test of high specificity and sensitivity in detecting numerical chromosomal alterations aggregating the results quickly and inexpensively. (AU)

Scientific publications

(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the authors)

DE MORAES, RENATA WENDEL; BURLACCHINI DE CARVALHO, MARIO HENRIQUE; DE AMORIM-FILHO, ANTONIO GOMES; VIEIRA FRANCISCO, ROSSANA PULCINELI; ROMAO, RENATA MOSCOLINI; LEVI, JOSE EDUARDO; ZUGAIB, MARCELO. Validation of QF-PCR for prenatal diagnoses in a Brazilian population. Clinics, v. 72, n. 7, p. 400-404, JUL 2017. (12/51806-2)