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Specific PHGKB|Reproductive and Child Health PHGKB|PHGKB
Last Posted: Apr 08, 2021
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Preferences and values for rapid genomic testing in critically ill infants and children: a discrete choice experiment
I Goranitis et al, EJHG, April 2, 2021

The public (n?=?522) and families with lived experiences (n?=?25) demonstrated strong preferences for higher diagnostic yield and clinical utility, faster result turnaround times, and lower cost. Society on average would be willing to pay an additional AU$9510 (US$6657) for rapid (2 weeks results turnaround time) and AU$11,000 (US$7700) for ultra-rapid genomic testing (2 days turnaround time) relative to standard diagnostic care.

New ASD prevalence numbers show gaps are closing, but more work is needed
CDC, April, 2021

Recent findings from the ADDM Network show that an estimated 1 in 54 8-year-old children were identified with ASD in 2016, based on tracking in 11 communities across the United States. For the first time, ADDM Network data found no overall difference in the number of black children identified with ASD compared to white children.

Utility of noninvasive genome-wide screening: a prospective cohort of obstetric patients undergoing diagnostic testing.
Guseh Stephanie et al. Genetics in medicine : official journal of the American College of Medical Genetics 2021 3

While NIPS is an excellent screening test for common aneuploidies, genome-wide NIPS misses clinically significant findings detected on routine diagnostic testing. False positive and false negative cases highlight the importance of pretest counseling regarding NIPS limitations, especially in the setting of fetal anomalies.

Actionability of commercial laboratory sequencing panels for newborn screening and the importance of transparency for parental decision-making.
DeCristo Daniela M et al. Genome medicine 2021 3 (1) 50

Commercial neonatal genomic screening panels have heterogeneous content and may contain some conditions with lower actionability than would be expected for public health newborn screening; conversely, some conditions with higher actionability may be omitted from these panels. The lack of transparency about how conditions are selected suggests a need for greater detail about panel content in order for parents to make informed decisions.

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Data Brief: Medicaid Coverage Patterns for People with Sickle Cell Disease in California and Georgia, 2014-2016

Higher Rates of Bleeding and Use of Treatment Products Found Among Young Boys Compared to Girls with von Willebrand Disease

Non-Invasive Prenatal Fetal Blood Group Genotype and Its Application in the Management of Hemolytic Disease of Fetus and Newborn: Systematic Review and Meta-Analysis. External Web Site Icon
Alshehri Abdulrahman Ali et al. Transfusion medicine reviews 2021
Non-invasive prenatal screening for fetal sex chromosome aneuploidies. External Web Site Icon
Deng Cechuan et al. Expert review of molecular diagnostics 2021
Performance of cell-free DNA sequencing-based non-invasive prenatal testing: experience on 36,456 singleton and multiple pregnancies. External Web Site Icon
La Verde Marco et al. BMC medical genomics 2021 14(1) 93
Spinal Muscular Atrophy: Inheritance, Screening, and Counseling for the Obstetric Provider. External Web Site Icon
Hopkins Maeve K et al. Obstetrical & gynecological survey 2021 76(3) 166-169
Artificial Intelligence to Assist in Exclusion of Coronary Atherosclerosis During CCTA Evaluation of Chest Pain in the Emergency Department: Preparing an Application for Real-world Use. External Web Site Icon
White Richard D et al. Journal of digital imaging 2021
Identification of variation in nutritional practice in neonatal units in England and association with clinical outcomes using agnostic machine learning. External Web Site Icon
Greenbury Sam F et al. Scientific reports 2021 11(1) 7178
The prediction of preeclampsia: the way forward. External Web Site Icon
Myatt Leslie et al. American journal of obstetrics and gynecology 2021
A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex External Web Site Icon
D Antaki et al, MEDRXIV, April 4, 2021


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