Last Posted: Apr 18, 2024
Spotlight
Latest News and Publications
Accepting or declining preconception expanded carrier screening: An exploratory study with 407 couples.
Ariane J A G Van Tongerloo et al. J Genet Couns 2024
Expanding Access to Noninvasive Prenatal Diagnosis for Monogenic Conditions to Consanguineous Families.
Britt Hanson et al. Clin Chem 2024
Prenatal screening after preimplantation genetic testing for aneuploidy: time to evaluate old strategies.
María Gabriela Palacios-Verdú et al. Reprod Biomed Online 2024 48(6) 103761
Medication Usage Record-Based Predictive Modeling of Neurodevelopmental Abnormality in Infants under One Year: A Prospective Birth Cohort Study.
Tianyi Zhou et al. Healthcare (Basel) 2024 12(7)
SARS-CoV-2 with Influenza B Coinfection in a Patient with Sickle Cell HbSC Presenting with Painful Crisis: A Case Report.
Ali Elrazi A, et al. Cureus 2024 0 0. (3) e56102
Clinical application value of pre-pregnancy carrier screening in Chinese Han childbearing population.
Li Tan et al. Mol Genet Genomic Med 2024 12(4) e2425
Cystic Fibrosis Foundation Evidence-Based Guideline for the Management of CRMS/CFSPID.
Deanna M Green et al. Pediatrics 2024
Evaluating thromboprophylaxis in the sickle cell disease population: Navigating the evidence gap.
Jennifer Davila et al. Br J Haematol 2024
Impact of a Genetic Diagnosis for a Child's Autism on Parental Perceptions.
Julia Wynn et al. J Autism Dev Disord 2024
Newborn Screening for Severe T and B Cell Lymphopenia Using TREC/KREC Detection: A Large-Scale Pilot Study of 202,908 Newborns.
Andrey V Marakhonov et al. J Clin Immunol 2024 44(4) 93
Non-invasive prenatal test identifies circulating cell-free DNA chromosomal abnormalities derived from clonal hematopoiesis in aggressive hematological malignancies.
Valentina Giudice et al. Clin Exp Med 2024 24(1) 69
The book is just being written: The enduring journey of parents of children with emerging- ultrarare disorders.
Bethany Stafford-Smith et al. J Genet Couns 2024
A rapid PCR-free next-generation sequencing method for comprehensive diagnosis of chromosome disease syndromes in prenatal samples.
Hong Su et al. Medicine (Baltimore) 2024 103(13) e37610
Current Methods of Newborn Screening Follow-Up for Sickle Cell Disease Are Highly Variable and without Quality Assurance: Results from the ENHANCE Study.
Najibah Galadanci et al. Int J Neonatal Screen 2024 10(1)
Iowa Newborn Screening Program Experience with Hemoglobinopathy Screening over the Last Two Decades and Its Increasing Global Relevance.
Ryan Jilek et al. Int J Neonatal Screen 2024 10(1)
Psychosocial Impact of a True-Positive, False-Positive, or Inconclusive Newborn Bloodspot Screening Result: A Questionnaire Study among Parents.
Lieke M van den Heuvel et al. Int J Neonatal Screen 2024 10(1)
Towards genomic-Newborn Screening: Technical feasibility of Exome Sequencing starting from dried blood spots.
Alessia Mauri et al. Mol Genet Metab Rep 2024 39101074
Ultrasonographic Fetal Nuchal Translucency Measurements and Cytogenetic Outcomes.
Kara Bellai-Dussault et al. JAMA Netw Open 2024 7(3) e243689
Equitable Artificial Intelligence in Obstetrics, Maternal-Fetal Medicine, and Neonatology.
Ryan M McAdams et al. Obstet Gynecol 2024
Parsimonious Waveform-derived Features consisting of Pulse Arrival Time and Heart Rate Variability Predicts the Onset of Septic Shock.
Moamen M Soliman et al. Biomed Signal Process Control 2024 92
Predictive value of ultrasonic artificial intelligence in placental characteristics of early pregnancy for gestational diabetes mellitus.
Huien Zhou et al. Front Endocrinol (Lausanne) 2024 151344666
Preparing for the bedside-optimizing a postpartum depression risk prediction model for clinical implementation in a health system.
Yifan Liu et al. J Am Med Inform Assoc 2024
The Effectiveness of Artificial Intelligence in Assisting Mothers with Assessing Infant Stool Consistency in a Breastfeeding Cohort Study in China.
Jieshu Wu et al. Nutrients 2024 16(6)
The Importance of Vaccination, Variants and Time Point of SARS-CoV-2 Infection in Pregnancy for Stillbirth and Preterm Birth Risk: An Analysis of the CRONOS Register Study.
Iannaccone Antonella, et al. Journal of clinical medicine 2024 0 0. (6)
A scoping review exploring cure definitions and language for inherited hemoglobinopathies.
Marilyn S Baffoe-Bonnie et al. Genet Med Open 2024 2
An AI-based approach driven by genotypes and phenotypes to uplift the diagnostic yield of genetic diseases.
S Zucca et al. Hum Genet 2024
Human Genetics Society of Australasia Position Statement: Predictive and Presymptomatic Genetic Testing in Adults and Children.
Danya F Vears et al. Twin Res Hum Genet 2024 1-8
Molecular autopsy for fetal structural anomaly: diagnostic and clinical utility of multidisciplinary team approach.
E Wall et al. Ultrasound Obstet Gynecol 2024
Newborn Screening: Current Practice and Our Journey over the Last 60 Years.
Jing Cao et al. J Appl Lab Med 2024
Parent perspectives following newborn screening resulting in diagnoses of fragile X syndrome or fragile X premutation.
Allyson Corbo et al. Res Dev Disabil 2024 148104719
Ready for polygenic risk scores? An analysis of regulation of preimplantation genetic testing in European countries.
M Siermann et al. Hum Reprod 2024
Machine learning-enabled maternal risk assessment for women with pre-eclampsia (the PIERS-ML model): a modelling study.
Tünde Montgomery-Csobán et al. Lancet Digit Health 2024 6(4) e238-e250
Mendelian randomization supports genetic liability to hospitalization for COVID-19 as a risk factor of pre-eclampsia.
Wu Weizhen, et al. Frontiers in cardiovascular medicine 2024 0 0. 1327497
An International Learning Collaborative Phase 2 Trial for Haploidentical Bone Marrow Transplant in Sickle Cell Disease.
Adetola A Kassim et al. Blood 2024
Current state of gene therapy in sickle cell disease.
Mei San Tang et al. Vox Sang 2024
Development of a Low Cost Semiquantitative Polymerase Chain Reaction Assay for Molecular Diagnosis of Williams Syndrome.
Dinali M Ranaweera et al. Clin Lab 2024 70(3)
Experiences and concerns of parents of children with a 16p11.2 deletion or duplication diagnosis: a reflexive thematic analysis.
Charlotte E Butter et al. BMC Psychol 2024 12(1) 137
Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth disease.
Christopher J Record et al. Brain 2024
Artificial intelligence in imaging in the first trimester of pregnancy: a systematic review.
Emma Umans et al. Fetal Diagn Ther 2024
Identifying non-adult attention-deficit/hyperactivity disorder individuals using a stacked machine learning algorithm using administrative data population registers in a universal healthcare system.
David Roche et al. JCPP Adv 2024 4(1) e12193
Spotlight
Assessing the Benefits and Harms Associated with Early Diagnosis from the Perspective of Parents with Multiple Children Diagnosed with Duchenne Muscular Dystrophy
O Battacharria et al, IJNS, April 15, 2024 (Posted Apr 15, 2024 2PM)
From the abstract: " Duchenne muscular dystrophy (DMD) is a rare neuromuscular disorder diagnosed in childhood. Limited newborn screening in the US often delays diagnosis. With multiple FDA-approved therapies, early diagnosis is crucial for timely treatment but may entail other benefits and harms. Using a community-based survey, we explored how parents of siblings with DMD perceived early diagnosis of one child due to a prior child’s diagnosis. We assessed parents’ viewpoints across domains including diagnostic journey, treatment initiatives, service access, preparedness, parenting, emotional impact, and caregiving experience."
Toward clinical exomes in diagnostics and management of male infertility
C Lillepea et al, AJHG, April 15, 2024 (Posted Apr 15, 2024 2PM)
From the abstract: "Infertility, affecting ~10% of men, is predominantly caused by primary spermatogenic failure (SPGF). We screened likely pathogenic and pathogenic (LP/P) variants in 638 candidate genes for male infertility in 521 individuals presenting idiopathic SPGF and 323 normozoospermic men in the ESTAND cohort. Molecular diagnosis was reached for 64 men with SPGF (12%), with findings in 39 genes (6%). The yield did not differ significantly between the subgroups with azoospermia (20/185, 11%), oligozoospermia (18/181, 10%), and primary cryptorchidism with SPGF (26/155, 17%). "
Role of next generation sequencing in diagnosis and management of critically ill children with suspected monogenic disorder
S Bahtia et al, EJHG, April 11, 2024 (Posted Apr 12, 2024 9AM)
From the abstract: " Next generation sequencing based diagnosis has emerged as a promising tool for evaluating critically ill neonates and children. However, there is limited data on its utility in developing countries. We assessed its diagnostic rate and clinical impact on management of pediatric patients with a suspected genetic disorder requiring critical care. The study was conducted at a single tertiary hospital in Northern India. We analyzed 70 children with an illness requiring intensive care and obtained a precise molecular diagnosis in 32 of 70 probands (45.3%) using diverse sequencing techniques such as clinical exome, whole exome, and whole genome. A significant change in clinical outcome was observed in 13 of 32 (40.6%) diagnosed probands with a change in medication in 11 subjects and redirection to palliative care in two subjects."
Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial.
Oliver Schwartz et al. JAMA Pediatr 2024 4 (Posted Apr 09, 2024 8AM)
From the abstract: " Is early diagnosis through newborn screening associated with improved outcomes in infants with spinal muscular atrophy compared to those diagnosed after onset of symptoms? In this nonrandomized controlled trial within the SMARTCARE registry, patients identified by newborn screening showed better motor development with disease-modifying treatments than those who were diagnosed after onset of symptoms. These results offer supporting evidence for the benefit of newborn screening for spinal muscular atrophy. "
Latest News and Publications
Ariane J A G Van Tongerloo et al. J Genet Couns 2024
Expanding Access to Noninvasive Prenatal Diagnosis for Monogenic Conditions to Consanguineous Families.
Britt Hanson et al. Clin Chem 2024
Prenatal screening after preimplantation genetic testing for aneuploidy: time to evaluate old strategies.
María Gabriela Palacios-Verdú et al. Reprod Biomed Online 2024 48(6) 103761
Medication Usage Record-Based Predictive Modeling of Neurodevelopmental Abnormality in Infants under One Year: A Prospective Birth Cohort Study.
Tianyi Zhou et al. Healthcare (Basel) 2024 12(7)
SARS-CoV-2 with Influenza B Coinfection in a Patient with Sickle Cell HbSC Presenting with Painful Crisis: A Case Report.
Ali Elrazi A, et al. Cureus 2024 0 0. (3) e56102
Clinical application value of pre-pregnancy carrier screening in Chinese Han childbearing population.
Li Tan et al. Mol Genet Genomic Med 2024 12(4) e2425
Cystic Fibrosis Foundation Evidence-Based Guideline for the Management of CRMS/CFSPID.
Deanna M Green et al. Pediatrics 2024
Evaluating thromboprophylaxis in the sickle cell disease population: Navigating the evidence gap.
Jennifer Davila et al. Br J Haematol 2024
Impact of a Genetic Diagnosis for a Child's Autism on Parental Perceptions.
Julia Wynn et al. J Autism Dev Disord 2024
Newborn Screening for Severe T and B Cell Lymphopenia Using TREC/KREC Detection: A Large-Scale Pilot Study of 202,908 Newborns.
Andrey V Marakhonov et al. J Clin Immunol 2024 44(4) 93
Non-invasive prenatal test identifies circulating cell-free DNA chromosomal abnormalities derived from clonal hematopoiesis in aggressive hematological malignancies.
Valentina Giudice et al. Clin Exp Med 2024 24(1) 69
The book is just being written: The enduring journey of parents of children with emerging- ultrarare disorders.
Bethany Stafford-Smith et al. J Genet Couns 2024
A rapid PCR-free next-generation sequencing method for comprehensive diagnosis of chromosome disease syndromes in prenatal samples.
Hong Su et al. Medicine (Baltimore) 2024 103(13) e37610
Current Methods of Newborn Screening Follow-Up for Sickle Cell Disease Are Highly Variable and without Quality Assurance: Results from the ENHANCE Study.
Najibah Galadanci et al. Int J Neonatal Screen 2024 10(1)
Iowa Newborn Screening Program Experience with Hemoglobinopathy Screening over the Last Two Decades and Its Increasing Global Relevance.
Ryan Jilek et al. Int J Neonatal Screen 2024 10(1)
Psychosocial Impact of a True-Positive, False-Positive, or Inconclusive Newborn Bloodspot Screening Result: A Questionnaire Study among Parents.
Lieke M van den Heuvel et al. Int J Neonatal Screen 2024 10(1)
Towards genomic-Newborn Screening: Technical feasibility of Exome Sequencing starting from dried blood spots.
Alessia Mauri et al. Mol Genet Metab Rep 2024 39101074
Ultrasonographic Fetal Nuchal Translucency Measurements and Cytogenetic Outcomes.
Kara Bellai-Dussault et al. JAMA Netw Open 2024 7(3) e243689
Equitable Artificial Intelligence in Obstetrics, Maternal-Fetal Medicine, and Neonatology.
Ryan M McAdams et al. Obstet Gynecol 2024
Parsimonious Waveform-derived Features consisting of Pulse Arrival Time and Heart Rate Variability Predicts the Onset of Septic Shock.
Moamen M Soliman et al. Biomed Signal Process Control 2024 92
Predictive value of ultrasonic artificial intelligence in placental characteristics of early pregnancy for gestational diabetes mellitus.
Huien Zhou et al. Front Endocrinol (Lausanne) 2024 151344666
Preparing for the bedside-optimizing a postpartum depression risk prediction model for clinical implementation in a health system.
Yifan Liu et al. J Am Med Inform Assoc 2024
The Effectiveness of Artificial Intelligence in Assisting Mothers with Assessing Infant Stool Consistency in a Breastfeeding Cohort Study in China.
Jieshu Wu et al. Nutrients 2024 16(6)
The Importance of Vaccination, Variants and Time Point of SARS-CoV-2 Infection in Pregnancy for Stillbirth and Preterm Birth Risk: An Analysis of the CRONOS Register Study.
Iannaccone Antonella, et al. Journal of clinical medicine 2024 0 0. (6)
A scoping review exploring cure definitions and language for inherited hemoglobinopathies.
Marilyn S Baffoe-Bonnie et al. Genet Med Open 2024 2
An AI-based approach driven by genotypes and phenotypes to uplift the diagnostic yield of genetic diseases.
S Zucca et al. Hum Genet 2024
Human Genetics Society of Australasia Position Statement: Predictive and Presymptomatic Genetic Testing in Adults and Children.
Danya F Vears et al. Twin Res Hum Genet 2024 1-8
Molecular autopsy for fetal structural anomaly: diagnostic and clinical utility of multidisciplinary team approach.
E Wall et al. Ultrasound Obstet Gynecol 2024
Newborn Screening: Current Practice and Our Journey over the Last 60 Years.
Jing Cao et al. J Appl Lab Med 2024
Parent perspectives following newborn screening resulting in diagnoses of fragile X syndrome or fragile X premutation.
Allyson Corbo et al. Res Dev Disabil 2024 148104719
Ready for polygenic risk scores? An analysis of regulation of preimplantation genetic testing in European countries.
M Siermann et al. Hum Reprod 2024
Machine learning-enabled maternal risk assessment for women with pre-eclampsia (the PIERS-ML model): a modelling study.
Tünde Montgomery-Csobán et al. Lancet Digit Health 2024 6(4) e238-e250
Mendelian randomization supports genetic liability to hospitalization for COVID-19 as a risk factor of pre-eclampsia.
Wu Weizhen, et al. Frontiers in cardiovascular medicine 2024 0 0. 1327497
An International Learning Collaborative Phase 2 Trial for Haploidentical Bone Marrow Transplant in Sickle Cell Disease.
Adetola A Kassim et al. Blood 2024
Current state of gene therapy in sickle cell disease.
Mei San Tang et al. Vox Sang 2024
Development of a Low Cost Semiquantitative Polymerase Chain Reaction Assay for Molecular Diagnosis of Williams Syndrome.
Dinali M Ranaweera et al. Clin Lab 2024 70(3)
Experiences and concerns of parents of children with a 16p11.2 deletion or duplication diagnosis: a reflexive thematic analysis.
Charlotte E Butter et al. BMC Psychol 2024 12(1) 137
Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth disease.
Christopher J Record et al. Brain 2024
Artificial intelligence in imaging in the first trimester of pregnancy: a systematic review.
Emma Umans et al. Fetal Diagn Ther 2024
Identifying non-adult attention-deficit/hyperactivity disorder individuals using a stacked machine learning algorithm using administrative data population registers in a universal healthcare system.
David Roche et al. JCPP Adv 2024 4(1) e12193
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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:Apr 18, 2024
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