Diana W. Bianchi
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View article: The placental effects of trisomy for human chromosome 21 orthologs in four mouse models of Down syndrome
The placental effects of trisomy for human chromosome 21 orthologs in four mouse models of Down syndrome Open
Down syndrome (DS) is caused by trisomy for human chromosome 21 (Hsa21) and is associated with atypical neurodevelopment that begins prenatally. The developing human fetus receives nutritional support and gas exchange from the placenta, an…
View article: Identifying Key Questions and Challenges in Microchimerism Biology
Identifying Key Questions and Challenges in Microchimerism Biology Open
Microchimerism research has recently gained renewed attention despite known existence of these rare cells for decades. Fetal and maternal microchimeric‐derived cells may have functional capabilities, and are increasingly associated with bo…
View article: Comparing the Introduction and Implementation of Noninvasive Prenatal Testing (NIPT) in Japan, the Netherlands, and the United States: An Integrative Review
Comparing the Introduction and Implementation of Noninvasive Prenatal Testing (NIPT) in Japan, the Netherlands, and the United States: An Integrative Review Open
Previous studies suggest that NIPT's implementation differed widely across countries but offer limited insight into what shaped these differences. To address this gap, we conducted an in‐depth analysis of how NIPT was incorporated into pre…
View article: Prenatal cfDNA Sequencing and Incidental Detection of Maternal Cancer
Prenatal cfDNA Sequencing and Incidental Detection of Maternal Cancer Open
In this study, 48.6% of participants who received unusual or nonreportable clinical cfDNA-sequencing results had an occult cancer. Further study of DNA-sequencing patterns that are suggestive of occult cancer during prenatal screening is w…
View article: Analysis of genotype effects and inter-individual variability in iPSC-derived trisomy 21 neural progenitor cells
Analysis of genotype effects and inter-individual variability in iPSC-derived trisomy 21 neural progenitor cells Open
Trisomy of human chromosome 21 (T21) gives rise to Down syndrome (DS), the most frequent live-born autosomal aneuploidy. T21 triggers genome-wide transcriptomic alterations that result in multiple atypical phenotypes with highly variable p…
View article: The HEALthy Brain and Child Development Study (HBCD): NIH collaboration to understand the impacts of prenatal and early life experiences on brain development
The HEALthy Brain and Child Development Study (HBCD): NIH collaboration to understand the impacts of prenatal and early life experiences on brain development Open
The human brain undergoes rapid development during the first years of life. Beginning in utero, a wide array of biological, social, and environmental factors can have lasting impacts on brain structure and function. To understand how prena…
View article: Medical findings and congenital anomalies in <scp>Vermeer's</scp> paintings
Medical findings and congenital anomalies in <span>Vermeer's</span> paintings Open
The 17th century was a time of scientific discovery in Europe. Leading academic centers provided the general population with an opportunity to view anatomic dissections of human bodies. Rather than portray idealized versions of individuals…
View article: Addressing the Public Health Crisis of Maternal Mortality
Addressing the Public Health Crisis of Maternal Mortality Open
This Viewpoint discusses the National Institutes of Health initiative that focuses on research that reduces preventable maternal mortality, decreases severe maternal morbidity, and promotes health equity.
View article: Biometric magnetic resonance imaging analysis of fetal brain development in Down syndrome
Biometric magnetic resonance imaging analysis of fetal brain development in Down syndrome Open
Objectives To assess brain development in living fetuses with Down syndrome (DS) by biometric measurements on fetal brain magnetic resonance images (MRI). Methods We scanned 10 MRIs of fetuses with confirmed trisomy 21 at birth and 12 cont…
View article: Patients' perspectives on prenatal screening results that suggest maternal cancer: A qualitative analysis
Patients' perspectives on prenatal screening results that suggest maternal cancer: A qualitative analysis Open
Objective To explore patient perspectives after receiving non‐invasive prenatal testing (NIPT) results that suggest maternal cancer. Methods Individuals who received non‐reportable or discordant NIPT results during pregnancy and enrolled i…
View article: Cover Image, Volume 193, Number 2, June 2023
Cover Image, Volume 193, Number 2, June 2023 Open
Cover legend: Kabuki syndrome across the lifespan Images depicting physical exam features of three adult patients with KMT2D ‐related Kabuki syndrome. For Patients 7 and 8, photographs illustrate the evolution of the facial phenotype over …
View article: Table of Contents, Volume 193, Number 2, June 2023
Table of Contents, Volume 193, Number 2, June 2023 Open
29,231 (US), US$29,231 (Rest of World), €18,860 (Europe), £14,921 (UK).Prices are exclusive of tax.Asia-Paci c GST,
View article: Noninvasive Prenatal Testing Using Circulating DNA and RNA: Advances, Challenges, and Possibilities
Noninvasive Prenatal Testing Using Circulating DNA and RNA: Advances, Challenges, and Possibilities Open
Prenatal screening using sequencing of circulating cell-free DNA has transformed obstetric care over the past decade and significantly reduced the number of invasive diagnostic procedures like amniocentesis for genetic disorders. Nonethele…
View article: Invited Speaker Talks
Invited Speaker Talks Open
Autoimmune oophoritis and reproductive failuresThe immune system plays a critical role in ovarian function.Systemic proinflammatory conditions can affect folliculogenesis.The ovary is a frequent target of autoimmune attacks.The presence of…
View article: Table of Contents, Volume 193, Number 1, March 2023
Table of Contents, Volume 193, Number 1, March 2023 Open
MEDICAL GENETICS is published in 4 issues per year.Ins� tu� onal subscrip� on prices for 2023 are: Print & Online: US$29,231 (US), US$29,231 (Rest of World), €18,860 (Europe), £14,921 (UK).Prices are exclusive of tax.Asia-Paci c GST,
View article: Visual discrimination and inhibitory control deficits in mouse models of Down syndrome: A pilot study using rodent touchscreen technology
Visual discrimination and inhibitory control deficits in mouse models of Down syndrome: A pilot study using rodent touchscreen technology Open
Several non‐verbal cognitive and behavioral tests have been developed to assess learning deficits in humans with Down syndrome (DS). Here we used rodent touchscreen paradigms in adult male mice to investigate visual discrimination (VD) lea…
View article: Table of Contents, Volume 190, Number 4, December 2022
Table of Contents, Volume 190, Number 4, December 2022 Open
MEDICAL GENETICS is published in 4 issues per year.Ins� tu� onal subscrip� on prices for 2022 are: Print & Online: US$29,231 (US), US$29,231 (Rest of World), €18,860 (Europe), £14,921 (UK).Prices are exclusive of tax.Asia-Paci c GST,
View article: The impact of in utero transfusions on perinatal outcomes in patients with alpha thalassemia major: the UCSF registry
The impact of in utero transfusions on perinatal outcomes in patients with alpha thalassemia major: the UCSF registry Open
Alpha thalassemia major (ATM) is a hemoglobinopathy that usually results in perinatal demise if in utero transfusions (IUTs) are not performed. We established an international registry (NCT04872179) to evaluate the impact of IUTs on surviv…
View article: The impact of <i>Mmu</i>17 non-<i>Hsa</i>21 orthologous genes in the Ts65Dn mouse model of Down syndrome: the “gold standard” revisited
The impact of <i>Mmu</i>17 non-<i>Hsa</i>21 orthologous genes in the Ts65Dn mouse model of Down syndrome: the “gold standard” revisited Open
Despite many successful preclinical treatment studies to improve neurocognition in the Ts65Dn mouse model of Down syndrome (DS), translation to humans has failed. This raises critical questions about the appropriateness of the Ts65Dn mouse…
View article: A new ethical framework to determine acceptable risks in fetal therapy trials
A new ethical framework to determine acceptable risks in fetal therapy trials Open
Objective Fetal therapy trials pose complex ethical challenges because risks and benefits to both fetuses and pregnant persons must be considered. Existing regulatory guidance is limited and many proposed ethical frameworks have unnecessar…
View article: A New Ethical Framework for Assessing the Unique Challenges of Fetal Therapy Trials: Response to Commentaries
A New Ethical Framework for Assessing the Unique Challenges of Fetal Therapy Trials: Response to Commentaries Open
This article refers to:A New Ethical Framework for Assessing the Unique Challenges of Fetal Therapy TrialsThe Fetus as a Research SubjectConsidering Reprogenomics in the Ethical Future of Fetal Therapy TrialsConsents (and Contents) Under P…
View article: Physician Bias and Clinical Trial Participation in Underrepresented Populations
Physician Bias and Clinical Trial Participation in Underrepresented Populations Open
From design to dissemination, including diverse populations in clinical research studies enhances the generalizability of scientific outcomes and enhances the capacity of research to affect policy and practice. But diverse inclusion does m…
View article: National Institutes of Health Funding Priorities
National Institutes of Health Funding Priorities Open
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