A5038074846- Prenatal Screening and Diagnostics
- Diabetes Management and Research
- Fetal and Pediatric Neurological Disorders
- Diabetes Treatment and Management
- Genomic variations and chromosomal abnormalities
- Pregnancy and preeclampsia studies
- Congenital heart defects research
- Cancer Genomics and Diagnostics
- Assisted Reproductive Technology and Twin Pregnancy
- Metabolism, Diabetes, and Cancer
- Pancreatic function and diabetes
- Cystic Fibrosis Research Advances
- Congenital Heart Disease Studies
- Birth, Development, and Health
- Parvovirus B19 Infection Studies
- Colorectal Cancer Screening and Detection
- Malaria Research and Control
- Pharmacology and Obesity Treatment
- Diabetes and associated disorders
- Animal Nutrition and Physiology
- Diabetes Management and Education
- Renal and related cancers
- Gout, Hyperuricemia, Uric Acid
- Neurological Complications and Syndromes
- Advanced Glycation End Products research
National Institute of Diabetes and Digestive and Kidney Diseases
2024
Massachusetts General Hospital
2021-2024
Michigan Medicine
2024
Milken Institute
2024
George Washington University
2024
University of Puget Sound
2024
University of Washington
2024
Group for the Analysis of Development
2023
Natera (United States)
2017-2023
University of Alberta
2019-2023
Single-nucleotide polymorphism (SNP)-based non-invasive prenatal testing (NIPT) can currently predict a subset of submicroscopic abnormalities associated with severe clinical manifestations. We retrospectively analyzed the performance SNP-based NIPT in 80 449 referrals for 22q11.2 deletion syndrome and 42 326 1p36, cri-du-chat, Prader-Willi, Angelman microdeletion syndromes over 1-year period, compared original screening protocol revision that reflexively sequenced high-risk calls at higher...
BackgroundHistorically, prenatal screening has focused primarily on the detection of fetal aneuploidies. Cell-free DNA now enables noninvasive for subchromosomal copy number variants, including 22q11.2 deletion syndrome (or DiGeorge syndrome), which is most common microdeletion and a leading cause congenital heart defects neurodevelopmental delay. Although smaller studies have demonstrated feasibility syndrome, large cohort with confirmatory postnatal testing to assess test performance not...
Cell-free DNA noninvasive prenatal screening for trisomies 21, 18, and 13 has been rapidly adopted into clinical practice. However, previous studies are limited by a lack of follow-up genetic testing to confirm the outcomes accurately assess test performance, particularly in women at low risk aneuploidy.To measure compare performance cell-free between high aneuploidy large, prospective cohort with confirmation results STUDY DESIGN: This was multicenter observational study 21 centers 6...
Noninvasive prenatal testing (NIPT) sometimes fails to provide a test result, usually as result of low cell-free DNA fetal fraction. We investigated how initial fraction, maternal weight, gestational age, and time between blood sampling contribute obtaining an informative when redraw is performed.We performed retrospective data review NIPT samples received January October 2016 by commercial laboratory, where the draw did not yield second sample was drawn 5 28 days after sampling. included...
We analyzed maternal plasma cell-free DNA samples from twin pregnancies in a prospective blinded study to validate single-nucleotide polymorphism (SNP)-based non-invasive prenatal test (NIPT) for zygosity, fetal sex, and aneuploidy. Zygosity was evaluated by looking either one or two genome complements, sex evaluating Y-chromosome loci, aneuploidy assessed through SNP ratios. correctly predicted 100% of cases (93/93; 95% confidence interval (CI) 96.1%–100%). Individual both twins also called...
Abstract Objectives The performance of noninvasive prenatal screening (NIPS) for fetal aneuploidy in twin pregnancies is dependent on the amount placentally derived cell‐free DNA, “fetal fraction (FF),” present maternal plasma. We report FF values monozygotic (MZ) and dizygotic (DZ) pregnancies. Methods reviewed at 10 to 20 completed weeks gestational age based single‐nucleotide polymorphism (SNP)‐based NIPS where zygosity was routinely established cohort included 121 446 (96.3%) singleton,...
To identify pregnancies at increased risk for trisomy 13, 18 or triploidy attributable to low fetal fraction (FF).A FF-based (FFBR) model was built using data from more than 165 000 singleton referred single-nucleotide polymorphism (SNP)-based non-invasive prenatal testing (NIPT). Based on maternal weight and gestational age (GA), FF distributions normal, triploid were constructed used adjust prior risks these abnormalities. A cut-off of ≥ 1% chosen define high (high FFBR score). The...
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,...
Abstract Context The clinical utility and implications of continuous glucose monitoring (CGM) in cystic fibrosis (CF) are unclear. Objective We examined the correlation between CGM measures outcomes adults with CF, investigated relationship hemoglobin A1c (HbA1c) CGM-derived average (AG), explored that distinguish fibrosis–related diabetes (CFRD) from normal abnormal tolerance. Methods This prospective observational study included 77 CF who had HbA1c measured at 2 to 3 time points months...
The phenotypic variability of non-syndromic cleft lip (CL) is broad. We demonstrate that the prevalence orbicularis oris (OO) muscle anomalies, detectable only by ultrasound, higher in first-degree relatives individuals with overt CL than general population. These findings suggest occult OO defects may be part spectrum phenotype, offspring such are at an increased risk to develop CL, and ultrasound a useful tool future population studies designed identify susceptibility genes.
Abstract Objective To report ultrasound and magnetic resonance imaging (MRI) findings in a fetus with intracranial hemorrhage porencephaly, presumed secondary to intrauterine cytomegalovirus (CMV) infection. Methods A 20‐year‐old, G2, P1 woman presented at 28.6 weeks' gestation after examination demonstrated apparently isolated fetal ascites. Evaluation included maternal serology, amniocentesis, repeated examinations. Fetal MRI evaluation was also performed. The infant born 35 gestational...
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...
During Plasmodium falciparum infection in pregnancy, VAR2CSA is expressed on the surface of infected erythrocytes (IEs) and mediates their sequestration placenta. As a result, antibodies to are largely restricted women who were during pregnancy. However, we discovered that can also be elicited by P. vivax Duffy binding protein (PvDBP). We proposed with non-pregnant individuals generate cross-react VAR2CSA. To better understand specificity these antibodies, took advantage mouse monoclonal...
Infection with dengue virus (DENV) is widespread across tropical regions and can result in severe disease. Early diagnosis important both for patient management to differentiate infections that present similar symptoms, such as malaria, chikungunya, Zika. Rapid diagnostic tests are used presently point-of-care detection of DENV antigens lack the sensitivity molecular diagnostics detect viral RNA. However, no test available use field settings. In this study, we developed validated a reverse...
Introductions Cystic fibrosis-related diabetes (CFRD) is associated with pulmonary decline, compromised nutritional status, and earlier mortality. Onset often insidious, so screening for early detection of glycemic abnormalities important. Continuous glucose monitoring (CGM) has been validated in people CF shown to detect variability otherwise missed on 2-hour oral tolerance testing (OGTT). We previously reported that CGM measures hyperglycemia are superior hemoglobin A1c (HbA1c)...
Background: About 50% of colorectal carcinomas and adenomas display K- ras mutations, which have also been described in stool or colonic lavage fluid. Moreover, the presence mutations plasma samples originating from patients with cancer has reported recently. Methods: DNA was extracted sera 16 carcinomas, 6 large adenomas, 3 Crohn disease 4 ulcerative colitis. Sera 20 healthy blood donors served as negative controls. at first second position codon 12 were detected by an enriched RFLP-PCR...
Abstract In type 2 diabetes, hyperuricemia is associated with cardiovascular disease (CVD) and the metabolic syndrome (MetS), but associations in 1 diabetes (T1D) have not been well-defined. This study examined relationships between serum urate (SU) concentrations, clinical biochemical factors, subsequent events a well-characterized cohort of adults T1D. 973 participants T1D Diabetes Control Complications Trial/Epidemiology Interventions Study (DCCT/EDIC), were defined SU, measured once...
Abstract Objective Prenatal chorionicity assessment relies on ultrasound, which can be confounded by many factors. Noninvasive of zygosity is possible using single nucleotide polymorphism (SNP)‐based cell‐free DNA testing. Our objective was to determine the relationship between provider‐reported and SNP‐cfDNA assignment twin zygosity. Methods All pregnancy blood samples received a reference laboratory September 27, 2017 8, 2021 were included. Chorionicity requested requisition, recorded as;...
Levels of 140La in both the yolk materials and livers producing Japanese quail reached plateau values by one day. The 47Ca levels but not liver. Starch gel electrophoresis 140La-labeled resulted only 5.2% moving with livetins. Centrifugal fractionation showed that, for labeled vitro 140La, 51.1% label was present lipovitellin fraction 41.2% phosvitin fraction. For vitro, results were lipovitellin, 15.3%; phosvitin, 63.2%. From these observations a view origin association growing oocytes...
Abstract Some women undergoing noninvasive prenatal testing (NIPT) do not receive an informative result due to low fetal fraction (FF). A proportion of these are at increased risk for trisomy 13, 18, or triploidy, while others have no change from their prior risk. Women with initial uninformative NIPT need be counseled about any such in abnormality and also the probability that a redraw will informative. To help decision making, we reviewed dataset single nucleotide polymorphism‐based...