Volume 13, Issue 10 (10-2015)                   IJRM 2015, 13(10): 623-626 | Back to browse issues page

XML Persian Abstract Print

Download citation:
BibTeX | RIS | EndNote | Medlars | ProCite | Reference Manager | RefWorks
Send citation to:

Radoi V E, Bohiltea C L, Bohiltea R E, Albu D N. Cell free fetal DNA testing in maternal blood of Romanian pregnant women. IJRM. 2015; 13 (10) :623-626
URL: http://ijrm.ssu.ac.ir/article-1-596-en.html
1- Department of Medical Genetics, UMF Carol Davila, Romania, Bucharest
2- Department of Medical Genetics, UMF Carol Davila, Romania, Bucharest , gen_og@yahoo.com
3- Department of Maternal and Fetal Medicine, Medlife Romania, Bucharest
Abstract:   (6914 Views)
Background: The discovery of circulating fetal DNA in maternal blood led to the discovery of new strategies to perform noninvasive testing for prenatal diagnosis.
Objective: The purpose of the study was to detect fetal aneuploidy at chromosomes 13, 18, 21, X, and Y by analysis of fetal cell-free DNA from maternal blood, without endangering pregnancy.
Materials and Methods: This retrospective study has been performed in Bucharest at Medlife Maternal and Fetal Medicine Department between 2013-2014. In total  201 women were offered noninvasive prenatal test. Maternal plasma samples were collected from women at greater than 9 weeks of gestation after informed consent and genetics counseling.
Results: From 201 patients; 28 (13.93%) had screening test with high risk for trisomy 21, 116 (57.71%) had advanced maternal age, 1 (0.49%) had second trimester ultrasound markers and the remaining 56 patients (27.86%) performed the test on request. Of those patients, 189 (94.02%) had a “low risk” result (<1/10,000). Of those who had a low risk result, 2 continued on to have amniocentesis with normal results.Five patients (2.48%) received “high risk” results (>99% risk) all for trisomy 21 (T21). T21 was confirmed by amniocentesis in 1 patient and the other 4 patients declined confirmation. The 7 remaining patients (3.48%) had a low fetal fraction of DNA.
Conclusion: It is probably that prenatal diagnosis using fetal DNA in maternal blood would play an increasingly role in the future practice of prenatal testing because of high accuracy.
Keywords: Prenatal, Fetal, DNA
Full-Text [PDF 90 kb]   (393 Downloads) |   |   Full-Text (HTML)  (197 Views)  
Type of Study: Original Article |

1. Alfirevic Z, Mujezinovic F, Sundberg K. Amniocentesis and chorionic villus sampling for prenatal diagnosis. Cochrane Database Syst Rev 2003; 3: CD003252. [DOI:10.1002/14651858.CD003252]
2. Bischoff FZ, Lewis DE, Simpson JL. Cell-free fetal DNA in maternal blood: kinetics, source and structure. Hum Reprod Update 2005; 11: 59-67. [DOI:10.1093/humupd/dmh053]
3. Bianchi DW. Fetal cells in the maternal circulation: feasibility for prenatal diagnosis. Br J Haematol 1999; 105: 574-583. [DOI:10.1046/j.1365-2141.1999.01383.x]
4. Tjoa ML, Cindrova-Davies T, Spasic-Boskovic O, Bianchi DW, Burton GJ. Trophoblastic oxidative stress and the release of cell-free feto-placental DNA. Am J Pathol 2006; 169: 400-404. [DOI:10.2353/ajpath.2006.060161]
5. Stroun M, Maurice P, Vasioukhin V, Lyautey J, Lederrey C, Lefort F, et al. The origin and mechanism of circulating DNA. Ann NY Acad Sci 2000; 906: 161-168. [DOI:10.1111/j.1749-6632.2000.tb06608.x]
6. Saito H, Sekizawa A, Morimoto T, Suzuki M, Yanaihara T. Prenatal DNA diagnosis of a single-gene disorder from maternal plasma. Lancet 2000; 356: 1170. [DOI:10.1016/S0140-6736(00)02767-7]
7. Wataganara T, Chen AY, LeShane ES, Sullivan LM, Borgatta L, Bianchi DW, et al. Cell-free fetal DNA levels in maternal plasma after elective first-trimester termination of pregnancy. Fertil Steril 2004; 81: 638-644. [DOI:10.1016/j.fertnstert.2003.07.028]
8. Bianchi DW, Williams JM, Sullivan LM, Hanson FW, Klinger KW, Shuber AP. PCR quantitation of fetal cells in maternal blood in normal and aneuploid pregnancies. Am J Hum Genet 1997; 61: 822-829. [DOI:10.1086/514885]
9. Bauer M, Hutterer G, Eder M, Majer S, Leshane E, Johnson KL, et al. A prospective analysis of cell-free fetal DNA concentration in maternal plasma as an indicator for adverse pregnancy outcome. Prenat Diagn 2006; 26: 831-836. [DOI:10.1002/pd.1513]
10. Nicolaides, KH. Validation of targeted sequencing of single-nucleotide polymorphism for non-invasive prenatal detection of aneuploidy of chromosomes 13, 18, 21, X and Y. Prenat Diag 2013; 33: 575-579. [DOI:10.1002/pd.4103]
11. Wang Y, Chen Y, Tian F, Zhang J, Song Z, Wu Y, et al. Maternal mosaicism is a significant contributor to discordant sex chromosomal aneuploidies associated with noninvasive prenatal testing. Clinical Chemistry 2014; 60: 251-259. [DOI:10.1373/clinchem.2013.215145]
12. Cheung SW, Patel A,Leung TA. Accurate Description of DNA-Based Noninvasive Prenatal Screening. N Engl J Med 2015; 372: 1675-1677. [DOI:10.1056/NEJMc1412222]
13. Norton ME, Brar H, Weiss J, Karimi A, Laurent LC, Caughey AB, et al. Non-Invasive Chromosomal Evaluation (NICE) study: results of a multicenter, prospective, cohort study for detection of fetal trisomy 18. Am J Obstet Gynecol 2012; 207: 137.e1-8. [DOI:10.1016/j.ajog.2012.05.021]
14. Canick JA, Kloza EM, Lambert-Messerlian GM, Haddow JE, Ehrich M, van den Boom D, et al. DNA sequencing of maternal plasma to identify Down syndrome and other trisomies in multiple gestations. Prenat Diagn 2012; 32: 730-734. [DOI:10.1002/pd.3892]

Send email to the article author

Rights and permissions
Creative Commons License This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.

Designed & Developed by : Yektaweb