Last Posted: Mar 09, 2017
- Down syndrome and the complexity of genome dosage imbalance.
Antonarakis Stylianos E et al. Nature reviews. Genetics 2017 Mar (3) 147-163
- Key Findings: Frequency of Trisomy Conditions using Birth Defects Tracking Programs in the United States, 2006-2010
- Mosaic trisomy 17 at amniocentesis: Prenatal diagnosis, molecular genetic analysis, and literature review.
Chen Chih-Ping et al. Taiwanese journal of obstetrics & gynecology 2016 Oct (5) 712-717
- Using Patient-Centered Care After a Prenatal Diagnosis of Trisomy 18 or Trisomy 13: A Review.
Haug Shelly et al. JAMA pediatrics 2017 Feb
- Noninvasive Prenatal Screening of Fetal Aneuploidy without Massively Parallel Sequencing.
Xu Chenming et al. Clinical chemistry 2017 Feb
- Noninvasive prenatal testing: more caution in counseling is needed in high risk pregnancies with ultrasound abnormalities.
Oneda Beatrice et al. European journal of obstetrics, gynecology, and reproductive biology 2016 May 20072-5
- The clinical utility of DNA-based screening for fetal aneuploidy by primary obstetrical care providers in the general pregnancy population.
Palomaki Glenn E et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Jan
- Clinical experience from Thailand: noninvasive prenatal testing as screening tests for trisomies 21, 18 and 13 in 4736 pregnancies.
Manotaya S et al. Prenatal diagnosis 2016 Mar 36(3) 224-31
- Patient Perception of Negative Noninvasive Prenatal Testing Results.
Wittman A Theresa et al. AJP reports 2016 Oct 6(4) e391-e406
- Newborn Screening for Severe Primary Immunodeficiency Diseases in Sweden-a 2-Year Pilot TREC and KREC Screening Study.
Barbaro Michela et al. Journal of clinical immunology 2016 Nov
- Clinical evaluation of the IONA test: a non-invasive prenatal screening test for trisomies 21, 18 and 13.
Papageorghiou A T et al. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2016 Feb 47(2) 188-93
- Clinical performance of non-invasive prenatal testing (NIPT) using targeted cell-free DNA analysis in maternal plasma with microarrays or next generation sequencing (NGS) is consistent across multiple controlled clinical studies.
Stokowski Renee et al. Prenatal diagnosis 2015 Dec 35(12) 1243-6
- IONA test for first-trimester detection of trisomies 21, 18 and 13.
Poon L C et al. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2016 Feb 47(2) 184-7
- Trial by Dutch Laboratories for Evaluation of Non-Invasive Prenatal Testing. Part I - Clinical Impact.
Oepkes Dick et al. Prenatal diagnosis 2016 Oct
- Screening for chromosomal abnormalities using combined test in the first trimester of pregnancy.
Park Soo Yeon et al. Obstetrics & gynecology science 2016 Sep 59(5) 357-66
- Survival and Surgical Interventions for Children With Trisomy 13 and 18.
Nelson Katherine E et al. JAMA 2016 Jul 316(4) 420-8