Birth Defects
What's New
Last Posted: Oct 05, 2023
- Clinical Genetics Assessment Triangle (CGAT): A simple tool to identify patients with genetic conditions.
David Ferri-Rufete et al. Eur J Med Genet 2023 104858 - Neighborhood Deprivation and Neural Tube Defects.
Shannon Pruitt Evans et al. Epidemiology 2023 34(6) 774-785 - A machine learning model for predicting congenital heart defects from administrative data.
Haoming Shi et al. Birth Defects Res 2023 - Structured Framework for Multidisciplinary Parent Counseling and Medical Interventions for Fetuses and Infants with Trisomy 13 or Trisomy 18.
Amanda J H Kim et al. Am J Perinatol 2023 - Prenatal diagnosis and early childhood outcome of fetuses with extremely large nuchal translucency.
Hang Zhou et al. Mol Cytogenet 2023 16(1) 22 - The effect of resolution level and targeted design in the diagnostic performance of prenatal chromosomal microarray analysis.
Elena Papageorgiou et al. Fetal Diagn Ther 2023 - Beyond the exome: What's next in diagnostic testing for Mendelian conditions.
Monica H Wojcik et al. Am J Hum Genet 2023 8 (8) 1229-1248 - Whole exome sequencing reveal 83 novel Mendelian disorders carrier P/LP variants in Chinese adult patients.
Li Zhang et al. J Hum Genet 2023 - Challenges in the clinical understanding of genetic testing in birth defects and pediatric diseases.
Tina O Findley et al. Transl Pediatr 2023 12(5) 1028-1040 - Association of deep phenotyping with diagnostic yield of prenatal exome sequencing for fetal brain abnormalities
KA Drexler et al, Genet in Med June 13, 2023
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About RCH PHGKB
Reproductive and Child Health PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other materials that address the translation of genomic and other precision health discoveries into improved health care and prevention related to reproductive and child Health...more
Content Summary
Common RCH Related Topics
- Attention Deficit/Hyperactivity Disorder
- Autism
- Birth Defects
- Carrier Testing
- Cerebral Palsy
- Congenital heart defects
- Pregnancy loss
- Developmental Disabilities
- Gestational Diabetes
- Hearing loss
- Neural tube defects
- Infant Mortality
- Infertility
- Learning disability
- Newborn Screening
- Preeclampsia
- Prematurity
- Prenatal Testing
- Stillbirth
- Sudden Infant Death Syndrome
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.
- Page last reviewed:Oct 1, 2023
- Page last updated:Nov 29, 2023
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