[Non-invasive prenatal diagnosis of the most common aneuploidies with cell-free fetal DNA in maternal serum--preliminary results]. / Nieinwazyjna diagnostyka prenatalna najczestszych aneuploidii na podstawie plodowego DNA we krwi matki --doniesienie wstepne.
Ginekol Pol
; 85(3): 208-13, 2014 Mar.
Article
em Pl
| MEDLINE
| ID: mdl-24783433
ABSTRACT
OBJECTIVES:
The aim of the study was to present initial results of non-invasive prenatal diagnosis of common aneuploidies of chromosomes 21, 18 and 13 based on cell-free fetal DNA in maternal serum in high-risk patients, and to compare the results with routine karyotyping. MATERIAL ANDMETHODS:
Before the invasive procedure, 10 ml of peripheral blood from 10 patients was collected to isolate cell-free fetal DNA and to perform a non-invasive fetal trisomy test (NIFTY provided by Beijing Genomics Institute, BGI, Shenzen, China).RESULTS:
Three out of 10 samples showed an abnormal karyotype in traditional karyotyping. There were 9 conclusive NIFTY results. NIFTY detected 1 out of 2 trisomies 18. The quantity of cell-free fetal DNA in maternal plasma in the second probe with trisomy 18 was unsatisfactory fora conclusive NIFTY result. In 1 case traditional karyotyping revealed mosaicism impossible to detect with NIFTY
Buscar no Google
Base de dados:
MEDLINE
Assunto principal:
Diagnóstico Pré-Natal
/
Cromossomos Humanos Par 13
/
Cromossomos Humanos Par 18
/
Cromossomos Humanos Par 21
/
DNA
/
Aberrações Cromossômicas
/
Sangue Fetal
/
Testes para Triagem do Soro Materno
Tipo de estudo:
Diagnostic_studies
Limite:
Adult
/
Female
/
Humans
/
Pregnancy
Idioma:
Pl
Revista:
Ginekol Pol
Ano de publicação:
2014
Tipo de documento:
Article