A5085158136- Prenatal Screening and Diagnostics
- Fetal and Pediatric Neurological Disorders
- Genomic variations and chromosomal abnormalities
- Pregnancy and preeclampsia studies
- Genetic Syndromes and Imprinting
- Pregnancy and Medication Impact
- Assisted Reproductive Technology and Twin Pregnancy
- Family and Disability Support Research
- Gestational Diabetes Research and Management
- BRCA gene mutations in cancer
- Sexual Differentiation and Disorders
- Cancer Genomics and Diagnostics
- Autoimmune and Inflammatory Disorders Research
- Preterm Birth and Chorioamnionitis
- Reproductive Health and Technologies
- Global Maternal and Child Health
- Genetics and Neurodevelopmental Disorders
- Circadian rhythm and melatonin
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Autism Spectrum Disorder Research
- Family Support in Illness
- Health, Environment, Cognitive Aging
- Molecular Biology Techniques and Applications
- MicroRNA in disease regulation
- Extracellular vesicles in disease
AbbVie (United States)
2022-2024
Woman's Hospital
2023
Myriad Genetics
2018-2020
Myriad (Germany)
2019
Kimball International (United States)
2018
Family and Medical Counseling Service
2004
Massachusetts General Hospital
2003
Boston University
2001
Center for Human Genetics
2001
Objective Performance of noninvasive prenatal screening (NIPS) methodologies when applied to low fetal fraction samples is not well established. The single-nucleotide polymorphism (SNP) method fails below a predetermined threshold, whereas some laboratories employing the whole-genome sequencing (WGS) report aneuploidy calls for all samples. Here, performance two methods was compared determine which approach actually detects more aneuploidies. Methods Computational models were parameterized...
Newborn identical twin boys had thrombocytopenia, leukopenia, and hepatosplenomegaly. Platelet transfusions were ineffective. Screening for infections was negative. Bone marrow aspiration showed a single hemophagocytic histiocyte. Despite medical management, the patients' condition continued to worsen. A diagnostic procedure performed.
ABSTRACT Objective To describe our clinical experience across the entire range of fetal‐fraction (FF) measurements a non‐invasive prenatal screen (NIPS) that uses whole‐ genome sequencing (WGS). Methods We analyzed retrospectively results from 58 105 singleton pregnancies underwent NIPS on customized WGS platform during an 8‐month period and assessed test performance for trisomy 21, 18 13. Pregnancy outcomes were sought all screen‐positive patients 18% screen‐negative patients. As...
Background: Noninvasive prenatal screening (NIPS) utilization has grown dramatically and is increasingly offered to the general population by nongenetic specialists. Web-based technologies telegenetic services offer potential solutions for efficient results delivery genetic counseling. Introduction: All major guidelines recommend patients with both negative positive be counseled. The main objective of this study was quantify patient utilization, motivation posttest counseling, satisfaction a...
Noninvasive prenatal screening (NIPS) of common aneuploidies using cell-free DNA from maternal plasma is part routine care and widely used in both high-risk low-risk patient populations. High specificity needed for clinically acceptable positive predictive values. Maternal copy-number variants (mCNVs) have been reported as a source false-positive aneuploidy results that compromises specificity. We surveyed the mCNV landscape 87,255 patients undergoing NIPS. evaluated previously novel...
Abstract Objective Women with high body mass index (BMI) tend to have reduced fetal fraction (FF) during cell‐free DNA‐based noninvasive prenatal screening (NIPS), causing test failure rates up 24.3% and prompting guidelines that recommend aneuploidy other than NIPS for patients significant obesity. Because alternatives are only preferable if they perform better, we compared the respective sensitivities at different BMI levels of traditional a customized whole‐genome sequencing NIPS. Method...
Rett syndrome is an X-linked dominant neurodevelopmental disorder caused by mutations in the MECP2 gene. Mutations have been demonstrated more than 80% of females with typical features syndrome. We identified gene and documented clinical manifestations 65 patients to characterize genotype-phenotype spectrum. Bidirectional sequencing entire coding region was performed. diagnosed mutations. Of these, 15 had reported previously 13 are novel. Two multiple deletions within Eight common were found...
Abstract The Genetic Counselor SARS‐CoV‐2 Impact Survey (GCSIS) describes the impact of pandemic on genetic counselors and counseling services. With this information, National Society Counselors (NSGC) can better: (1) support advocacy access efforts for services at both federal‐ state‐level; (2) promote effective billing reimbursement provided via telemedicine; (3) make decisions about how to best counselors. survey was hosted a novel data collection analysis platform from LunaDNA open all (...
Abstract Background: Behavior change and medication adherence represent potential barriers to optimal prevention of pregnancy complications including preeclampsia. We sought evaluate baseline sentiments on care amenability, how these measures would be impacted by early predictive testing for Methods: developed a digital survey query participants’ care, knowledge about complications, views hypothetical test predict The was administered online pregnant recently-delivered individuals in the...
Abstract Background Behavior change and medication adherence represent potential barriers to optimal prevention of pregnancy complications including preeclampsia. We sought evaluate baseline sentiments on care amenability, how these measures would be impacted by early predictive testing for Methods developed a digital survey query participants’ care, knowledge about complications, views hypothetical test predict The was administered online pregnant recently-delivered individuals in the...
Background: As noninvasive prenatal screening usage grows in the general obstetrics setting, proper patient education on screen’s benefits and limitations is needed. Objective: Describe use of a technology platform designed for large-scale dissemination information results. Study Design: The functioned as follows: Patients were emailed link to an general-education video upon laboratory receipt test requisition. Providers then notified availability patients’ If results...
Purpose/Aim Examine how well noninvasive prenatal screening (NIPS) performs in women across body mass index (BMI) classes. Hypothesis NIPS via whole genome sequencing better serves all women, regardless of BMI, compared with traditional maternal serum screening. Significance/Background Noninvasive Prenatal Screening (NIPS), increasingly offered as a first‐line aneuploidy screen, has superior performance (MSS). Fetal fraction (FF) is one the many factors that influence NIPS. Low FF associated...
Abstract Objective Performance of noninvasive prenatal screening (NIPS) methodologies when applied to low fetal fraction samples is not well established. The single-nucleotide polymorphism (SNP) method fails below a predetermined threshold, whereas some laboratories employing the whole-genome sequencing (WGS) report aneuploidy calls for all samples. Here, performance two methods was compared determine which approach actually detects more aneuploidies. Methods Computational models were...
INTRODUCTION: The same factors contributing to disproportionately worse health outcomes are also barriers inclusion in research for Black, Hispanic, and Indigenous patients. In this subanalysis of a large, multisite prospective cohort study maternal plasma mRNA signatures adverse pregnancy (APOs), we sought determine whether equitable representation was aided by the large community hospital as an enrollment site. METHODS: Pregnant persons between 18 45 year old with singleton eligible enroll...
Abstract Background: Behavior change and medication adherence represent potential barriers to optimal prevention of pregnancy complications including preeclampsia. We sought evaluate baseline sentiments on care amenability, how these measures would be impacted by early predictive testing for Methods: developed a digital survey query participants’ care, knowledge about complications, views hypothetical test predict The was administered online pregnant recently-delivered individuals in the...
Fetal fraction (FF) is one of the many factors that influence performance non-invasive prenatal screening (NIPS). Low FF associated with early gestational age, a compromised placenta (eg. from triploidy and certain aneuploidies), high body mass index (BMI). By far, most common these BMI: patients BMI (>29.9) constitute ∼25% US pregnancies ∼20% UK pregnancies. The recent American College Genetics Genomics statement recommends “offering aneuploidy other than NIPS in cases significant obesity.”...