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Specific PHGKB|Reproductive and Child Health PHGKB|PHGKB
Last Posted: Mar 30, 2023
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What is Autism Spectrum Disorder?
CDC, 2023

Autism spectrum disorder (ASD) is a developmental disability caused by differences in the brain. Some people with ASD have a known difference, such as a genetic condition. Other causes are not yet known. Scientists believe there are multiple causes of ASD that act together to change the most common ways people develop.

Maternal third dose of BNT162b2 mRNA vaccine and risk of infant COVID-19 hospitalization
M Lipshhuetz et al, Nature Medicine, March 23, 2023

Compared to the second dose, the third dose was associated with reduced infant hospitalization with estimated effectiveness of 53% (95% CI: 36–65%). Greater protection was associated with a shorter interval between vaccination and delivery. A third maternal dose during pregnancy reduced the risk of infant hospitalization for COVID-19 during the first 4?months of life, supporting clinical and public health guidance for maternal booster vaccination to prevent infant COVID-19 hospitalization.

Newborn genome screening in the USA: early steps on a challenging path
B Furlough, Lancet Child & Adol Health, , April 2023

As of March, 2023, the Genomic Uniform-screening Against Rare Diseases In All Newborns (GUARDIAN) study at Columbia University and New York-Presbyterian hospitals in New York, NY, USA, has enrolled more than 1000 of a planned 100?000 babies who will undergo whole-genome sequencing over the next 4 years to detect gene variants associated with 158 rare diseases. It will be the largest US study to date of genome sequencing at birth to detect rare genetic diseases.

Limitations, concerns and potential: attitudes of healthcare professionals toward preimplantation genetic testing using polygenic risk scores
M Siermann et al, EJHG, March 20, 2023

We found that most healthcare professionals were concerned about the prematurity of introducing PGT-P into clinical practice. They had various ethical considerations, such as concerns related to validity and utility of PGT-P, limited embryos and options, and difficulties for prospective parents regarding comprehension and informed decision-making. Positive aspects were also identified, e.g., regarding reproductive autonomy and potential health benefits. Overall, most healthcare professionals considered that clinical implementation of PGT-P is premature.

news Latest News and Publications
Clinical exome sequencing findings in 1589 patients. External Web Site Icon
Ozlem Gorukmez et al. American journal of medical genetics. Part A 2023
Cost-effective genotyping for classical congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) in resource-poor settings: multiplex ligation probe amplification (MLPA) with/without sequential next-generation sequencing (NGS). External Web Site Icon
Ana Monteiro et al. Hormones (Athens, Greece) 2023
Expanding the Australian Newborn Blood Spot Screening Program using genomic sequencing: do we want it and are we ready? External Web Site Icon
Stephanie White et al. European journal of human genetics : EJHG 2023
Implementing a comprehensive newborn monitoring chart: Barriers, enablers, and opportunities. External Web Site Icon
Naomi Muinga et al. PLOS global public health 2023 2(7) e0000624
Individualised human phenotype ontology gene panels improve clinical whole exome and genome sequencing analytical efficacy in a cohort of developmental and epileptic encephalopathies. External Web Site Icon
Olivia J Henry et al. Molecular genetics & genomic medicine 2023 e2167
Investigation of mutational spectrum in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma. External Web Site Icon
Tazeen Zahid et al. Pakistan journal of medical sciences 2023 39(2) 409-416
Limitations, concerns and potential: attitudes of healthcare professionals toward preimplantation genetic testing using polygenic risk scores. External Web Site Icon
Maria Siermann et al. European journal of human genetics : EJHG 2023
Obstetrical, perinatal and genetic outcomes associated with non-reportable prenatal cell free DNA screening results. External Web Site Icon
Mary E Norton et al. American journal of obstetrics and gynecology 2023
Optimising the screening for haemoglobinopathies in pregnancy planning. External Web Site Icon
Robert S Nickel et al. Human fertility (Cambridge, England) 2023 1-6
Parental Attitudes and Ideas Regarding Newborn Screening for Familial Hypercholesterolemia. External Web Site Icon
Katie Tobik et al. Maternal and child health journal 2023


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.