Last Posted: Nov 03, 2020
- [Confirmation and analysis of 2 398 positive results of cell-free fetal DNA].
Zhao J H et al. Zhonghua fu chan ke za zhi 2020 Oct 55(10) 679-684
- [Clinical significance of non-invasive prenatal testing in preventing birth defects].
Zhang Weihua et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020 Oct 37(10) 1061-1064
- Cytogenomic results following high-chance non-invasive prenatal testing: a UK national audit.
Togneri Fiona S et al. Genetics research 2020 Sep 102e7
- Noninvasive prenatal testing for chromosome aneuploidies and subchromosomal microdeletions/microduplications in a cohort of 42,910 single pregnancies with different clinical features.
Chen Yibo et al. Human genomics 2019 13(1) 60
- Application of Non-Invasive Prenatal Tests in Serological Preclinical Screening for Women with Critical-Risk and Low-Risk Pregnancies but Abnormal Multiple of the Median Values.
Yin Lianli et al. Clinical laboratory 2020 Jul 66(7)
- Clinical validation of a novel automated cell-free DNA screening assay for trisomies 21, 13, and 18 in maternal plasma.
Ericsson Olle et al. Prenatal diagnosis 2019 39(11) 1011-1015
- Cell-free DNA screening for aneuploidies in 7113 pregnancies: single Italian centre study.
Mesoraca Alvaro et al. Genetics research 2020 Jun 102e5
- Adherence of cell-free DNA noninvasive prenatal screens to ACMG recommendations.
Skotko Brian G et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 21(10) 2285-2292
- Comparing prenatal screening experiences of Icelandic women who received false-positive and true-negative first-trimester combined screening results in Iceland in 2012-2016.
Thorolfsdottir Eirny et al. Journal of genetic counseling 2020 Mar
- Clinical application of a contingent screening strategy for trisomies with cell-free DNA: a pilot study.
Sánchez-Durán María Ángeles et al. BMC pregnancy and childbirth 2019 Aug 19(1) 274
- Performance of semiconductor sequencing platform for non-invasive prenatal genetic screening for fetal aneuploidy: results from a multicenter prospective cohort study in a clinical setting.
El Khattabi L Allach et al. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2019 Aug 54(2) 246-254
- [Noninvasive prenatal genetic testing in 6804 pregnant women aged less than 35 years with positive results in serum screening].
Yang Xingkun et al. Nan fang yi ke da xue xue bao = Journal of Southern Medical University 2019 Nov 39(11) 1350-1356
- Implementation of cell-free DNA-based non-invasive prenatal testing in a National Health Service Regional Genetics Laboratory.
Togneri Fiona S et al. Genetics research 2019 Dec 101e11
- The role of ultrasound in women with a positive NIPT result for trisomy 18 and 13.
Zhen Li et al. Taiwanese journal of obstetrics & gynecology 2019 Nov 58(6) 798-800
- [The value of non-invasive prenatal testing for the identification of fetal chromosome aneuploidies].
Zhou Ying et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2019 Nov 36(11) 1094-1096
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.