Birth Defects
What's New
Last Posted: Feb 08, 2024
- The detection efficacy of noninvasive prenatal genetic testing (NIPT) for sex chromosome abnormalities and copy number variation and its differentiation in pregnant women of different ages.
Yimei Li et al. Heliyon 2024 10(2) e24155 - Preimplantation genetic testing in couples with balanced chromosome rearrangement: a four-year period real world retrospective cohort study.
Fan Zhou et al. BMC Pregnancy Childbirth 2024 24(1) 86 - Reducing Time to Diagnosis of Rare Genetic Diseases in a Medically Underserved Hispanic Population- Lessons Learned for Meaningful Engagement.
Blake Vuocolo et al. Res Sq 2024 - The Role of Preprocedure Genetic Counseling in Pregnancies Interrupted for Fetal Abnormalities.
Alex A Francoeur et al. Am J Perinatol 2023 - 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 - 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 - Clinical diagnosis of genetic disorders at both single-nucleotide and chromosomal levels based on BGISEQ-500 platform.
Yanqiu Liu et al. Hum Genome Var 2023 10(1) 15 - Classification of normal and abnormal fetal heart ultrasound images and identification of ventricular septal defects based on deep learning.
Yiru Yang et al. J Perinat Med 2023 - Never "totally prepared": Support groups on helping families prepare for a child with a genetic condition.
Kaitlynn P Craig et al. J Community Genet 2023 4 1-9 - Birth Defects Research and Tracking
CDC, March 2023 - Copy number variants from 4800 exomes contribute to ~7% of genetic diagnoses in movement disorders, muscle disorders and neuropathies
M Pennings et al, EJHG, February 13, 2023 - National Birth Defects Awareness Month: Healthy Communities, Healthy Babies
NBDPN, January 2023 - High molecular diagnostic yields and novel phenotypic expansions involving syndromic anorectal malformations
RB Deloge et al, EJHG, December 6, 2022 - Analysis results of 579 cases of genomic copy number variation sequencing of pregnant women in prenatal diagnosis.
Huang L-L et al. European review for medical and pharmacological sciences 2022 26(20) 7572-7579 - Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy.
Sakamoto Masamune et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022 10 - Investigation of Genetic Causes in Patients with Congenital Heart Disease in Qatar: Findings from the Sidra Cardiac Registry.
Okashah Sarah et al. Genes 2022 13(8)
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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 Public Health Genomics Branch 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:Feb 1, 2024
- Page last updated:May 08, 2024
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