Bilimsel Yayınlar


Non-invazif, moleküler genetik, prenatal tanı testleri ile ilgili olarak yabancı dergilerde yayımlanan ve kongrelerde sunulan bilimsel yayınlara aşağıdaki başlıklardan ulaşabilirsiniz.
Konu başlıkları yıllara göre gruplandırmış olup "Full-Text" ve "Review" olan yayınlara ağırlık verilmiştir. Düzenli olarak güncellemeler yapılacaktır. Makalelere ulaşmak için lütfen başlıklar üzerine tıklayınız.

2014

A new era in prenatal care: non-invasive prenatal testing in Switzerland
Manegold-Brauer et al. - A new era in prenatal care: non-invasive prenatal testing in Switzerland; Swiss Med Mkly. 2014; 144:w13915

2013

Non-invasive prenatal testing for fetal aneuploidy: charting the course from clinical validity to clinical utility.

Ultrasound Obstet Gynecol. 2013 Jan; 41(1): 2-6


Cell-free fetal DNA and maternal serum analytes for monitoring embryonic and fetal status

Joe Leigh Simpson, M.D. Fertil Steril. 2013 Mar 15;99(4):1124-34.


Position Statement from the Aneuploidy Screening Committee on Behalf of the Board of the International Society for Prenatal Diagnosis.
April 2013

High-throughput massively parallel sequencing for fetal aneuploidy detection from maternal plasma.
. PLoS One. 2013;8(3):e57381. doi: 10.1371/journal. pone.0057381. Epub 2013 Mar 6.

Trisomy 13 detection in the first trimester of pregnancy using a chromosome-selective cell-free DNA analysis method.
.Ultrasound Obstet Gynecol. 2013;41(1):21-5.

2012

Non-invasive prenatal diagnosis for Down syndrome: the paradigm will shift, but slowly.
Ultrasound in Obstetrics & Gynecology Volume 39, Issue 2, pages 127–130, February 2012.

Committee opinion no. 545: Noninvasive prenatal testing for fetal aneuploidy.
Obstet Gynecol. 2012 Dec; 120(6): 1532-4

DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13, as well as Down syndrome: An international collaborative study.
Genet Med. 2012 Mar;14(3):296-305.

Genome wide fetal aneuploidy detection by sequencing of maternal plasma dna: Diagnostic accuracy in a prospective, blinded, multicenter study.
Obstet Gynecol. 2012 Feb 22.

DNA sequencing of maternal plasma to identify Down syndrome and other trisomies in multiple gestations
Prenat Diagn. 2012 Aug;(32(8):730-734.

Noninvasive chromosomal evaluation (NICE) st esults of a multicenter, prospective, cohort study for detection of fetal trisomy 21 and trisomy 18.
Am J Obstet Gynecol. 2012 Aug;207(2):137.e1-8. doi: 10.1016/j. ajog.2012.05.021.

2011
Prenatal Detection of Down Syndrome using Massively Parallel Sequencing (MPS): a rapid response statement from a committee on behalf of the Board of the International Society for Prenatal Diagnosis (ISPD), 24 October 2011

Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study.
BMJ 2011;342:c7401

A model for a new pyramid of prenatal care based on the 11 to 13 weeks' assessment.
Prenat Diagn 2011; 31: 3–6

Screening for fetal aneuploidies at 11 to 13 weeks.
Prenat Diagn 2011; 31: 7–15.

Practice guidelines for communicating a prenatal or postnatal diagnosis of down syndrome: Recommendations of the National Society of Genetic Counselors.
J Genet Couns. 2011;20(5):432-441.

DNA sequencing of maternal plasma to detect Down syndrome: An international clinical validation study.
Genet Med. 2011 Nov;13(11):913-920.

Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical setting.
Am J Obstet Gynecol. 2011 Mar;204(3):205.

2010
Prenatal diagnosis of Down syndrome: How best to deliver the news.

Am J Med Genet A. 2009;149A(11):2361 2367.

2009
Updated national birth prevalence estimates for selected birth defects in the United States, 2004-2006
.
Birth Defects Res A. 2010; 88:1008-1016.

2007
Screening for fetal chromosomal abnormalities
.
ACOG Practice Bulletin No. 77, January 2007. Obstet Gynecol. 109(1):217-228.

Invasive prenatal testing for aneuploidy.
ACOG Practice Bulletin No. 88, December 2007. Obstet Gynecol. 110(6):1459-1467.


2006
Non-invasive prenatal diagnosis
.
The Obstetrician & Gynaecologist Volume 8, Issue 2, pages 91–95, April 2006

2004
Cell-free fetal DNA in maternal blood: kinetics, source and structure
.
Human Reproduction Update 2004;11:59-67

1999
Rapid Clearance of Fetal DNA from Maternal Plasma.
Am. J. Hum. Genet. 64:218–224, 1999.

1997
Presence of fetal DNA in maternal plasma and serum.
The Lancet, Volume 350, Issue 9076, Pages 485 - 487, 16 August 1997.

1991
Chromosome abnormalities found among 34,910 newborn children: results from a 13-year incidence study in Arhus, Denmark.
Hum. Genet. 1991;87(1):81-83.