A5014387085- Prenatal Screening and Diagnostics
- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Maternal and Perinatal Health Interventions
- Fetal and Pediatric Neurological Disorders
- Congenital Anomalies and Fetal Surgery
- Hemoglobinopathies and Related Disorders
- RNA modifications and cancer
- Maternal and fetal healthcare
- Pregnancy and preeclampsia studies
- Neonatal Respiratory Health Research
- Iron Metabolism and Disorders
- Congenital Heart Disease Studies
- Assisted Reproductive Technology and Twin Pregnancy
- Cancer Genomics and Diagnostics
- Teratomas and Epidermoid Cysts
- Mindfulness and Compassion Interventions
- Autopsy Techniques and Outcomes
- Ethics and Legal Issues in Pediatric Healthcare
- Genetic Associations and Epidemiology
- Maternal Mental Health During Pregnancy and Postpartum
- Healthcare professionals’ stress and burnout
- Muscle and Compartmental Disorders
- Reproductive Biology and Fertility
- Metabolism and Genetic Disorders
Scripps Research Institute
2023-2025
Rady Children's Hospital-San Diego
2023-2024
Children’s Institute
2023-2024
Scripps Institution of Oceanography
2024
University of California, San Diego
2024
Harvard University
2017-2023
Boston Children's Hospital
2020-2023
Brigham and Women's Hospital
2015-2022
Society for Maternal-Fetal Medicine
2021
John Wiley & Sons (United Kingdom)
2018
Personalized genome sequencing has revealed millions of genetic differences between individuals, but our understanding their clinical relevance remains largely incomplete. To systematically decipher the effects human variants, we obtained whole-genome data for 809 individuals from 233 primate species and identified 4.3 million common protein-altering variants with orthologs in humans. We show that these can be inferred to have nondeleterious humans based on presence at high allele...
Key points What is already known about this topic? In 2015, the International Society for Prenatal Diagnosis (ISPD) published its first position statement on use of non‐invasive prenatal testing (NIPT) to screen aneuploidy. Widespread uptake across globe and subsequent research has shed new light test performance implementation issues. does study add? This replaces 2015 with updated information current technologies, clinical experience, practices. As an international organization, ISPD...
The Mendelian Phenotype Search Engine (MPSE), a clinical decision support tool using Natural Language Processing and Machine Learning, helped neonatologists expedite decisions to whole genome sequencing (WGS) diagnose patients in the neonatal intensive care unit. After MPSE was introduced, utilization of WGS increased, time ordering decreased, diagnostic yield increased.
Personalized genome sequencing has revealed millions of genetic differences between individuals, but our understanding their clinical relevance remains largely incomplete. To systematically decipher the effects human variants, we obtained whole data for 809 individuals from 233 primate species, and identified 4.3 million common protein-altering variants with orthologs in human. We show that these can be inferred to have non-deleterious based on presence at high allele frequencies other...
Abstract Background The Medicaid Analytic eXtract (MAX) is a health care utilization database from publicly insured individuals that has been used for studies of drug safety in pregnancy. Claims‐based algorithms defining many important maternal and neonatal outcomes have not validated. Objective To validate claims‐based identifying selected pregnancy MAX using hospital medical records. Methods records mothers who delivered between 2000 2010 within single large healthcare system were linked...
This study characterizes cytogenetic abnormalities with ultrasound findings to refine counseling following negative cell-free DNA (cfDNA).A retrospective cohort of pregnancies chromosome and was examined determine the residual risk cfDNA. Cytogenetic data categorized as cfDNA detectable for aneuploidies chromosomes 13, 18, 21, X, or Y non-cfDNA other abnormalities. Ultrasound reports were structural anomaly, nuchal translucency (NT) ≥3.0 mm, "soft markers". Results compared using chi squared...
Perinatal epidemiology studies using healthcare utilization databases are often restricted to live births, largely due the lack of established algorithms identify non-live births. The study objective was develop and validate claims-based for ascertainment
The Mendelian Phenotype Search Engine (MPSE), a clinical decision support tool using Natural Language Processing and Machine Learning, helped neonatologists expedite decisions to whole genome sequencing (WGS) diagnose patients in the Neonatal Intensive Care Unit. After MPSE was introduced, utilization of WGS increased, time ordering decreased, diagnostic yield increased.
The use of genomic sequencing (GS) for prenatal diagnosis fetuses with sonographic abnormalities has grown tremendously over the past decade. Fetal GS also offers an opportunity to identify incidental variants that are unrelated fetal phenotype, but may be relevant and newborn health. There currently no guidelines reporting findings from GS. In United States, adults children is recommended include a list "secondary findings" genes (ACMG SF v3.2) associated disorders which surveillance or...
Noninvasive prenatal testing (NIPT) for the sex chromosome aneuploidies (45,X, 47,XXY, 47,XXX, and 47,XYY) differs significantly from that autosomal (trisomy 13, 18, 21). As a group, occur more commonly (1/400) than any one isolated aneuploidy, phenotypic variation is greater, role of mosaicism challenging, positive predictive value high-risk NIPT result substantially lower. These considerations should be identified during pretest counseling, inclusion offered separately, differences...
Genomics for rare disease diagnosis has advanced at a rapid pace due to our ability perform "N-of-1" analyses on individual patients with ultra-rare diseases. The increasing sizes of cohorts internationally newly enables cohort-wide new discoveries, but well-calibrated statistical genetics approaches jointly analyzing these are still under development. Undiagnosed Diseases Network (UDN) brings multiple clinical, research and experimental centers the same umbrella across United States...
Background: With newer protocols, such as delayed cord clamping, becoming routine practice, determining the potential maternal consequences is important. In particular, establishing normative values for blood loss from hysterotomy would be helpful in addressing techniques to minimize total cesarean deliveries. Objective: Blood during delivery has not been reported using quantitative methods. We aimed quantify rate of between creation and closure. Methods: This single center, prospective,...
INTRODUCTION: Iron deficiency anemia is associated with risk of transfusion, preterm delivery, and cesarean birth. We aimed to optimize management iron a novel protocol. METHODS: A multidisciplinary team developed an evidence-based treatment protocol for in pregnancy. Resident maternal fetal medicine (MFM) practices tertiary care center implemented this October 2016. Two weeks supplementation without 1g/dL hemoglobin increase prompted hematology consultation. Protocol adherence five fields...