A5005536679- Prenatal Screening and Diagnostics
- Fetal and Pediatric Neurological Disorders
- Assisted Reproductive Technology and Twin Pregnancy
- Congenital heart defects research
- Neurogenetic and Muscular Disorders Research
- Cancer Genomics and Diagnostics
- Congenital Heart Disease Studies
- Genetic Syndromes and Imprinting
- Renal and related cancers
- Pregnancy and preeclampsia studies
- Disability Rights and Representation
- Connective tissue disorders research
- Genomic variations and chromosomal abnormalities
- Nutrition, Genetics, and Disease
- Wnt/β-catenin signaling in development and cancer
- Protease and Inhibitor Mechanisms
- Bone fractures and treatments
- Adolescent and Pediatric Healthcare
- Lung Cancer Treatments and Mutations
- Gestational Trophoblastic Disease Studies
- Genomics and Rare Diseases
- Reproductive Health and Technologies
- Muscle Physiology and Disorders
- Cancer Risks and Factors
- Parvovirus B19 Infection Studies
Natera (United States)
2018-2023
University of Puerto Rico at Carolina
2023
University of North Carolina at Chapel Hill
2023
John Wiley & Sons (United Kingdom)
2019
Hudson Institute
2019
Eastern Virginia Medical School
2015-2017
Collagen prolyl 4-hydroxylases (C-P4Hs) play a central role in the formation and stabilization of triple helical domain collagens. P4HA1 encodes catalytic α(I) subunit main C-P4H isoenzyme (C-P4H-I). We now report human bi-allelic mutations family with congenital-onset disorder connective tissue, manifesting as early-onset joint hypermobility, contractures, muscle weakness bone dysplasia well high myopia, evidence clinical improvement motor function over time surviving patient. Similar to...
To assess the causes of reported discordance between noninvasive prenatal testing (NIPT) and ultrasound or other clinical information.In this retrospective, observational study, all cases in which single-nucleotide polymorphism (SNP)-based NIPT normal sex chromosomes laboratory was notified by patient health care provider observed expected fetal from information were reviewed. When discordances unresolved after internal external clerical data review repeat imaging, additional records,...
To evaluate the incidence and clinical outcomes of cell-free DNA results suspicious for maternal malignancy on prenatal screening with single-nucleotide polymorphism (SNP)-based technology.This retrospective cohort study included data from SNP-based, noninvasive samples a commercial laboratory January 2015 to October 2021. Maternal plasma was screened trisomy 21, 18, 13; monosomy X; triploidy. Cases were considered if bioinformatics visual inspection SNP plot suggestive multiple copy number...
Non-invasive prenatal screening (NIPS) based on the analysis of cell-free DNA in maternal plasma has been shown to have high sensitivity and specificity. We gathered follow-up information for pregnancies women with test-positive NIPS results from 2014-2017 quarterly assessments positive predictive values (PPVs). A non-inferiority a minimum requirement 70%/80% expected performance trisomy 21 18 was used ensure testing met expectations. PPVs were evaluated context changes population receiving...
Twins account for approximately 1 in 30 live births the United States. However, there are limited clinical experience studies published noninvasive prenatal testing (NIPT) detecting aneuploidies twins. This study reports performance of an SNP-based NIPT largest cohort with known outcomes high-risk aneuploidy results.This is a retrospective analysis 18,984 results from commercial single-nucleotide polymorphism (SNP)-based tests performed twins between October 2, 2017 and December 31, 2019....
ABSTRACT Technological advances in prenatal testing are allowing for earlier screening to detect fetal aneuploidies, infection, or abnormalities. Noninvasive tests particular have enabled clinicians screen early pregnancy conditions that severely affect and neonatal outcomes (trisomies 21, 18, 13, among others). Some of these methods rely on cell-free DNA (cfDNA) circulating the maternal blood stream; although cfDNA can be released by placenta, malignancy another cause release cfDNA. The...
Abstract The prenatal genetic counseling process may be influenced by the patient's insurance coverage for both testing and termination. Major commercial providers have different policies. TRICARE is United States Department of Defense health program uniformed service members. provides to approximately 9.4 million beneficiaries, including plans, special programs, prescriptions, dental plans. TRICARE's covered medical expenses are outlined in their policies, those pertaining This qualitative...
INTRODUCTION: To report the influence of gestational age (GA) on patients' decisions to terminate pregnancies affected with Down syndrome (DS). METHODS: A retrospective cohort analysis a prospectively collected database in our region DS from November 2003 thru July 2015 was performed. RESULTS: total 258 were recorded, which 185 diagnosed within GA where pregnancy termination legal and available. Of these, 41 by CVS 11–14 weeks gestation 144 amniocentesis 15–22 GA. patients opting undergo...
INTRODUCTION: Noninvasive prenatal screening (NIPT) is a sensitive screen focusing on common aneuploidies. Products of conception (POC) testing can detect all aneuploidies, uniparental disomy, triploidy and deletions/duplications. METHODS: POC NIPT results for the same pregnancy were reviewed. was performed using Illumina CytoSNP-12b microarrays. For NIPT, cfDNA amplified by massively-multiplexed PCR targeting 13,392 SNPs across chromosomes 13, 18, 21, X Y. RESULTS: Of 25,432 cases, 22,103...