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Genomics|Features|Prenatal Testing

Prenatal Testing

More on Noninvasive Prenatal Testing - July 29, 2015

Use of the combined first-trimester screen in high- and low-risk patient populations after introduction of noninvasive prenatal testing.
Larion S et al. J Ultrasound Med 2015 Aug 34(8) 1423-8

Advantages and disadvantages of different implementation strategies of non-invasive prenatal testing in Down syndrome screening programmes.
Mersy E et al. Public Health Genomics 2015 Jul 18

Technical update: Preimplantation genetic diagnosis and screening.
Dahdouh EM et al. J Obstet Gynaecol Can 2015 May 37(5) 451-63

An economic analysis of cell-free DNA non-invasive prenatal testing in the US general pregnancy population.
Benn P et al. PLoS ONE 2015 10(7) e0132313

MethPed: a DNA methylation classifier tool for the identification of pediatric brain tumor subtypes.
Danielsson A et al. Clin Epigenetics 2015 7(1) 62

A cost-effectiveness analysis of first trimester non-invasive prenatal screening for fetal trisomies in the United States.
Walker BS et al. PLoS ONE 2015 10(7) e0131402

Whole exome and whole genome sequencing in prenatal testing: What's the whole story? By S Klugman et al, GeneWatch, June 2015

What patients are reading about noninvasive prenatal testing: an evaluation of Internet content and implications for patient-centered care.
Mercer MB et al. Prenat. Diagn. 2014 Oct 34(10) 986-93

Cell-free DNA screening for fetal aneuploidy
American College of Obstetricians and Gynecologists, Committee on Genetics, September, 2015

Preconception counseling: do patients learn about genetics from their obstetrician gynecologists?
Mandelberger AH et al. J. Assist. Reprod. Genet. 2015 Jun 9.

Presymptomatic identification of cancers in pregnant women during noninvasive prenatal testing
Armant F et al, JAMA Oncology, June 5, 2015

Detection of fetal copy number variations by noninvasive prenatal testing for common aneuploidies.
Li R et al. Ultrasound Obstet Gynecol 2015 May 29.

Positive predictive value of non-invasive prenatal screening for fetal chromosome disorders using cell-free DNA in maternal serum: independent clinical experience of a tertiary referral center.
Neufeld-Kaiser WA et al. BMC Med 2015 Jun 2. 13(1) 129

cfDNA screening for trisomy 21 tested in unselected pregnancies
Bahcall O, Nature Rev Genetics, May 2015

Detecting trisomy, by Rena Xu, NEJM Blog, Apr 1

Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. Summary and recommendations
Dondorp Wet al. EJHG, April 1, 2015

Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening
Joint Statement from ASHG and ESHG, Eur J Human Genetics, March 19, 2015

Is maternal plasma DNA testing impacting serum-based screening for aneuploidy in the United States?
Palomaki G et al. Genetics in Medicine, April 2, 2015

Cell-free DNA analysis for noninvasive examination of trisomy. 
Norton ME et al. N. Engl. J. Med. 2015 Apr 1.

Copy-number variation and false positive prenatal aneuploidy screening results.
Snyder MW, et al. N Engl J Med. 2015 Apr 1.

Accurate description of DNA-based noninvasive prenatal screening
Cheung SW et al. N Engl J Med. 2015, April 1.

NIPT outperforms standard screening for T21 but false positives call for caution, NEJM studies find, Genome Web, Apr 1 [by free subscription only]

MicroRNAs as potential biomarkers for noninvasive detection of fetal trisomy 21.
Lim JH et al. J. Assist. Reprod. Genet. 2015 Mar 8.

Noninvasive prenatal testing and fetal sonographic screening: roundtable discussion.
Lee W et al. J Ultrasound Med 2015 Mar (3) 363-9

An update on current prenatal testing options: first trimester and noninvasive prenatal testing.
Latendresse G et al. J Midwifery Womens Health 2015 Jan (1) 24-36

Detection of fetal subchromosomal abnormalities by sequencing circulating cell-free DNA from maternal plasma.
Zhao C et al. Clin. Chem. 2015 Feb 20.

Early fetal anatomy screening: who, what, when and why?
Van MT et al. Curr. Opin. Obstet. Gynecol. 2015 Apr (2) 143-50

Non-invasive prenatal testing: a review of international implementation and challenges.
Allyse M et al. Int J Womens Health 2015 113-26

Noninvasive prenatal testing using cell-free fetal DNA in maternal plasma.
Dharajiya N et al. Curr Protoc Hum Genet 2015 8.15.1-8.15.20

Expanding the scope of noninvasive prenatal testing: detection of fetal microdeletion syndromes.
Wapner RJ et al. Am. J. Obstet. Gynecol. 2015 Mar (3) 332.e1-9

Test for Down syndrome called 'major advance'
But it won't eliminate need for invasive diagnostics such as amniocentesis, doctors say, WebMD, April 2015

It's complicated - Factors predicting decisional conflict in prenatal diagnostic testing.
Muller C et al. Health Expect 2015 Apr 13.

The clinical utility of a single-nucleotide polymorphism microarray in patients with epilepsy at a tertiary medical center.
Hrabik SA et al. J. Child Neurol. 2015 Apr 10.

Disrupting prenatal care -- a revolution is underway, Medcape, Apr 13 [by free subscription only]

Noninvasive Prenatal Testing and Maternal Cancer - July 15, 2015

Noninvasive prenatal testing and detection of maternal cancer
Romero R et al. JAMA, July 13, 2015

Noninvasive prenatal testing and incidental detection of occult maternal malignancies
Bianchi DW et al. JAMA, July 13, 2015

Discordant noninvasive prenatal testing results in a patient subsequently diagnosed with metastatic disease.
Osborne CM et al. Prenat. Diagn. 2013 Jun (6) 609-11

Coexistence of pregnancy and malignancy.
Pavlidis NA et al. Oncologist 2002 (4) 279-87

Non-invasive detection of genomic imbalances in Hodgkin/Reed-Sternberg cells in early and advanced stage Hodgkin's lymphoma by sequencing of circulating cell-free DNA: a technical proof-of-principle study
Vandenberghe P et al. Lancet Hematology, February, 2015

Presymptomatic identification of cancers in pregnant women during noninvasive prenatal testing 
Amant F et al. JAMA Oncology, June 2015

Noninvasive Prenatal Testing: Using Genomics in Reproductive Health - January 27, 2015

DNA blood test gives women a new option for prenatal screening, National Public Radio, Jan 26, 2015

Education module from the American College of Medical Genetics and Genomics Noninvasive Prenatal Screening (NIPS)

Noninvasive prenatal cell-free fetal DNA-based screening for aneuploidies other than trisomy 21,    [PDF 819.23 KB] TEC Assessment, BlueCross Blue Shield, Dec 2014

American College of Medical Genetics statement on noninvasive prenatal screening for fetal aneuploidy, 
Gregg AR, et al. Genet Med. 2013 May;15(5):395-8.  

National Society for Genetic Counselors statement on noninvasive prenatal testing/noninvasive prenatal diagnosis (2012)

Noninvasive prenatal testing for fetal aneuploidy:  Opinion from the American College of Obstetrics and Gynecology, Society for Maternal Fetal Medicine (2012)

Non-invasive prenatal testing (NIPT) factsheet,  from the National Coalition for Healthcare Professional Education in Genetics

Recent advances of genomic testing in perinatal medicine.
Peters DG, et al. Semin Perinatol. 2014 Nov 28.

Introducing the non-invasive prenatal test for trisomy 21 in Belgium: a cost-consequences analysis. 
Neyt M, et al.  BMJ Open. 2014 Nov 7;4(11):e005922

An easy test but a hard decision: ethical issues concerning non-invasive prenatal testing for autosomal recessive disorders. 
Skirton H, et al.  Eur J Hum Genet. 2014 Nov 5.