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Specific PHGKB|Reproductive and Child Health PHGKB|PHGKB
Last Posted: May 19, 2022
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Pregnant Latinas’ views of adopting exome sequencing into newborn screening: A qualitative study
H Wang et al, Genetics in Medicine, May 17, 2022

We conducted semistructured interviews with 32 pregnant Latinas who predominately lived in rural areas and had low levels of income and education. An emergent coding approach was used to analyze the qualitative data collected. Our entire sample believed that ES should be offered as a part of newborn screening, which could empower pregnant Latinas to better understand their children’s health and take early treatment actions. Although some participants were concerned about potentially bad ES results and had questions about the accuracy of ES results, nearly all interviewees reported that they would be willing to have their newborns undergo ES. The main reasons given were to be informed of diseases that the baby may have, and the perception that ES is a procedure that involves minimal risk.

Genomic architecture of fetal central nervous system anomalies using whole-genome sequencing
Y Yang et al, NPJ Genomic Medicine, May 13, 2022

162 fetuses with 11 common CNS anomalies were enrolled in this study. Primary diagnosis was achieved in 62 cases, with an overall diagnostic rate of 38.3%. Causative variants included 18 aneuploids, 17 CNVs, three small CNVs, and 24 SNVs. Among the 24 SNVs, 15 were novel mutations not reported previously. Furthermore, 29 key genes of diagnostic variants and critical genes of pathogenic CNVs were identified, including five recurrent genes: i.e., TUBA1A, KAT6B, CC2D2A, PDHA1, and NF1. Diagnostic variants were present in 34 (70.8%) out of 48 fetuses with both CNS and non-CNS malformations, and in 28 (24.6%) out of 114 fetuses with CNS anomalies only.

Clinical evaluation and etiologic diagnosis of hearing loss: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)
MM Li et al, Genetics in Medicine, May 10, 2022

Hearing loss is a common and complex condition that can occur at any age, can be inherited or acquired, and is associated with a remarkably wide array of etiologies. The diverse causes of hearing loss, combined with the highly variable and often overlapping presentations of different forms of hearing loss, challenge the ability of traditional clinical evaluations to arrive at an etiologic diagnosis for many deaf and hard-of-hearing individuals. This clinical practice resource offers information about the frequency, causes, and presentations of hearing loss and suggests approaches to the clinical and genetic evaluation of deaf and hard-of-hearing individuals aimed at identifying an etiologic diagnosis and providing informative and effective patient education and genetic counseling.

Towards Achieving Equity and Innovation in Newborn Screening across Europe
J Sikonja et al, IJNS,May 2022

Although individual rare disorders are uncommon, it is estimated that, together, 6000+ known rare diseases affect more than 30 million people in Europe, and present a substantial public health burden. Together with the psychosocial burden on affected families, rare disorders frequently, if untreated, result in a low quality of life, disability and even premature death. Newborn screening (NBS) has the potential to detect a number of rare conditions in asymptomatic children, providing the possibility of early treatment and a significantly improved long-term outcome. Despite these clear benefits, the availability and conduct of NBS programs varies considerably across Europe and, with the increasing potential of genomic testing, it is likely that these differences may become even more pronounced.

news Latest News and Publications
Congenital muscle dystrophies: Role of singleton whole exome sequencing in countries with limited resources. External Web Site Icon
Masri Amira T et al. Clinical neurology and neurosurgery 2022 217107271
Effectiveness of alternative prenatal genetic counselling methods in a cohort of pregnant women from a low socio-economic population. External Web Site Icon
Battese Ellis Katie et al. The Australian & New Zealand journal of obstetrics & gynaecology 2022
Familial risk for bipolar I disorder is associated with erythrocyte omega-3 polyunsaturated fatty acid deficits in youth with attention-deficit hyperactivity disorder. External Web Site Icon
Mc Namara Robert K et al. Psychiatry research 2022 313114587
GENType: all-in-one preimplantation genetic testing by pedigree haplotyping and copy number profiling suitable for third-party reproduction. External Web Site Icon
De Witte L et al. Human reproduction (Oxford, England) 2022
Importance of Echocardiography and Clinical "Red Flags" in Guiding Genetic Screening for Fabry Disease. External Web Site Icon
Citro Rodolfo et al. Frontiers in cardiovascular medicine 2022 9838200
Mutations in Thalassemia Carrier Couples: The Importance of Prenatal Diagnostic Tests. External Web Site Icon
Kiani Ali Asghar et al. Clinical laboratory 2022 68(5)
Recommendations for next generation sequencing data reanalysis of unsolved cases with suspected Mendelian disorders: A systematic review and meta-analysis. External Web Site Icon
Dai Pei et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022
Testing for rare genetic causes of obesity: findings and experiences from a pediatric weight management program. External Web Site Icon
Roberts Karyn J et al. International journal of obesity (2005) 2022
Ethically robust reproductive genetic carrier screening needs to measure outcomes that matter to patients External Web Site Icon
L Dive et al, EJHG, May 18, 2022
Comparison of predictive models for cumulative live birth rate after treatment with ART. External Web Site Icon
Bardet Léna et al. Reproductive biomedicine online 2022


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