Last Posted: May 08, 2020
- Screening of triploid with low-coverage whole-genome sequencing by a single-nucleotide polymorphism-based test in miscarriage tissue.
Geng Qian et al. Journal of assisted reproduction and genetics 2019 Dec 36(12) 2525-2531
- Genome sequencing and implications for rare disorders.
Posey Jennifer E, et al. Orphanet journal of rare diseases 2019 6 0. (1) 153
- Genetic abnormalities seen on CVS in early pregnancy failure.
Gimovsky Alexis C et al. The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians 2018 Oct 1-191
- Genetic Counseling and Prenatal Diagnosis of Triploidy During the Second Trimester of Pregnancy.
Kolarski Milenko et al. Medical archives (Sarajevo, Bosnia and Herzegovina) 2017 Apr 71(2) 144-147
- Not all chromosome aberrations can be detected by NIPT in women at advanced maternal age: A multicenter retrospective study.
Chen Ying-Ping et al. Clinica chimica acta; international journal of clinical chemistry 2018 Aug 486232-236
- First trimester combined screening for fetal aneuploidies enhanced with additional ultrasound markers: an 8-year prospective study.
Nemescu Dragos et al. Ginekologia polska 2018 89(4) 205-10
- Fetal fraction-based risk algorithm for non-invasive prenatal testing: screening for trisomy 13, 18, and triploidy in women with low cell-free fetal DNA.
McKanna Trudy et al. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2018 Jul
- The clinical utility of genetic testing of tissues from pregnancy losses.
Waterman C A et al. BJOG : an international journal of obstetrics and gynaecology 2018 Jun 125(7) 867-873
- Next generation sequencing for preimplantation genetic screening improves pregnancy outcomes compared with array comparative genomic hybridization in single thawed euploid embryo transfer cycles.
Friedenthal Jenna et al. Fertility and sterility 2018 Mar
- The influence of SNP-based chromosomal microarray and NIPT on the diagnostic yield in 10,000 fetuses with and without fetal ultrasound anomalies.
Srebniak Malgorzata I et al. Human mutation 2017 Apr
- Cell-free DNA Screening in Clinical Practice: Abnormal Autosomal Aneuploidy and Microdeletion Results.
Valderramos Stephanie G et al. American journal of obstetrics and gynecology 2016 Jun
- [Clinical implementation of non-invasive prenatal study for detecting aneuploidies by fetal DNA based on single nucleotide polymorphisms: two years in Mexico].
Sánchez-Usabiaga Rafael A et al. Ginecologi´a y obstetricia de Me´xico 2015 Apr 83(4) 220-31
- Non-Invasive Prenatal Screening for Aneuploidy: Positive Predictive Values Based on Cytogenetic Findings.
Meck Jeanne M et al. Am. J. Obstet. Gynecol. 2015 Apr 3.
Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic discoveries into improved health outcomes related to rare diseases...more
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.