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Specific PHGKB|Reproductive and Child Health PHGKB|PHGKB
Last Posted: Jun 17, 2021
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Use of Genomics in Newborn Screening Programs: The Promise and Challenges
CDC September 21 webinar

While some have called for newborn screening using whole exome or whole genome sequencing, substantial barriers exist, including cost, privacy, equity in access, and the need for informed consent for sequencing of identifiable individuals. However, these technologies could play a role in testing those who screen positive using initial biochemical screens. Join us as we discuss both current and potential future use of genomics in newborn screening.

Spontaneous preterm birth: the underpinnings in the maternal and fetal genomes
E Bhattacharjee et al, NPJ Genomic Medicine, June 2021

Preterm birth (PTB) is a major cause of neonatal mortality and health complications in infants. Elucidation of its genetic underpinnings can lead to improved understanding of the biological mechanisms and boost the development of methods to predict PTB. Although recent genome-based studies of both mother and fetus have identified several genetic loci which might be implicated in PTB, these results suffer from a lack of consistency across multiple studies and populations.

Gene therapy helps children with immunodeficiency
O'Leary, Nature Medicine, June 10, 2021

Adenosine deaminase (ADA) deficiency is a rare, inherited disorder that leads to potentially life-threatening severe combined immunodeficiency (ADA-SCID). Enzyme-replacement therapy provides only limited benefit and patients ultimately require a stem-cell transplant. A lentivirus-based treatment restores immune function with minimal side effects in children with adenosine deaminase deficiency.

Association of Polygenic Liability for Autism With Face-Sensitive Cortical Responses From Infancy.
Gui Anna et al. JAMA pediatrics 2021 6

The N170 precursor (N290) to faces vs nonfaces is also altered prior to symptom emergence in infants subsequently diagnosed with autism.3 These early differences in brain processing represent a plausible developmental mechanism linking genetic liability and behavioral autism symptoms. We investigated whether N290 latency to faces vs nonfaces is associated with autism polygenic scores and cross-disorder polygenic scores in infants with and without a family history of autism.

news Latest News and Publications
Clinical application of a scale to assess genomic healthcare empowerment (GEmS): Process and illustrative case examples. External Web Site Icon
McConkie-Rosell Allyn et al. Journal of genetic counseling 2021
Clinical Utility of Whole Exome Sequencing and Targeted Panels for the Identification of Inborn Errors of Immunity in a Resource-Constrained Setting. External Web Site Icon
Engelbrecht Clair et al. Frontiers in immunology 2021 12665621
Diverse clinical features and diagnostic delay in monogenic inborn errors of immunity: a call for access to genetic testing. External Web Site Icon
Branch Anna et al. Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology 2021
Follow-up in Patients With Non-invasive Prenatal Screening Failures: A Reflection on the Choice of Further Prenatal Diagnosis. External Web Site Icon
Liu Sha et al. Frontiers in genetics 2021 12666648
Genetic evaluation in children with short stature. External Web Site Icon
Zhou Elaine et al. Current opinion in pediatrics 2021
Genome sequencing in congenital cataracts improves diagnostic yield. External Web Site Icon
Ma Alan et al. Human mutation 2021
Genome-Wide Association Study Identifies Genetic Risk Factors for Spastic Cerebral Palsy. External Web Site Icon
Hale Andrew T et al. Neurosurgery 2021
GenomeDiver: a platform for phenotype-guided medical genomic diagnosis. External Web Site Icon
Pearson Nathaniel M et al. Genetics in medicine : official journal of the American College of Medical Genetics 2021
The Cost-Effectiveness of Congenital Adrenal Hyperplasia Newborn Screening in Brazil: A Comparison Between Screened and Unscreened Cohorts. External Web Site Icon
de Miranda Mirela Costa et al. Frontiers in pediatrics 2021 9659492
Machine Learning Classification of Inflammatory Bowel Disease in Children Based on a Large Real-World Pediatric Cohort CEDATA-GPGE® Registry. External Web Site Icon
Schneider Nicolas et al. Frontiers in medicine 2021 8666190


Disclaimer: Articles listed in the Public Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.