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Article
Oncologists must act to manage cancer detected through prenatal screening
The ability of prenatal cell-free DNA sequencing to incidentally detect occult maternal malignancies was first documented over a decade ago, yet coordinated follow-up of pregnant people who receive these resul...
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Article
The All of Us Research Program is an opportunity to enhance the diversity of US biomedical research
The All of Us Research Program has prioritized the enrollment of people from backgrounds that are historically under-represented in medical research to bring precision medicine to the full diversity of the US ...
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Chapter
Maternal Secondary Genomic Findings Detected by Fetal Genetic Testing
Prenatal sequencing to noninvasively screen for fetal aneuploidies is performed on a mixed DNA sample containing maternal and placental DNA fragments. Therefore, genomic abnormalities originating in the matern...
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Article
Down syndrome
Trisomy 21, the presence of a supernumerary chromosome 21, results in a collection of clinical features commonly known as Down syndrome (DS). DS is among the most genetically complex of the conditions that are...
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Article
The power of human touch in the era of artificial intelligence
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Article
Open AccessAn Integrated Human/Murine Transcriptome and Pathway Approach To Identify Prenatal Treatments For Down Syndrome
Anatomical and functional brain abnormalities begin during fetal life in Down syndrome (DS). We hypothesize that novel prenatal treatments can be identified by targeting signaling pathways that are consistentl...
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Article
Open AccessGene expression in term placentas is regulated more by spinal or epidural anesthesia than by late-onset preeclampsia or gestational diabetes mellitus
Pre-eclampsia (PE) and gestational diabetes mellitus (GDM) are common complications of pregnancy, but the mechanisms underlying these disorders remain unclear. The aim was to identify the extent of altered gen...
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Article
Pregnancy: Prepare for unexpected prenatal test results
Women are learning about their own health problems through fetal screening. Revise consent forms and raise awareness, urges Diana W. Bianchi.
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Article
Amniotic fluid RNA gene expression profiling provides insights into the phenotype of Turner syndrome
Turner syndrome is a sex chromosome aneuploidy with characteristic malformations. Amniotic fluid, a complex biological material, could contribute to the understanding of Turner syndrome pathogenesis. In this p...
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Article
Open AccessDFLAT: functional annotation for human development
Recent increases in genomic studies of the develo** human fetus and neonate have led to a need for widespread characterization of the functional roles of genes at different developmental stages. The Gene Ont...
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Chapter and Conference Paper
CSAX: Characterizing Systematic Anomalies in eXpression Data
Methods for translating gene expression signatures into clinically relevant information have typically relied upon having many samples from patients with similar molecular phenotypes. Here, we address the ques...
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Article
Novel neurodevelopmental information revealed in amniotic fluid supernatant transcripts from fetuses with trisomies 18 and 21
Trisomies 18 and 21 are the two most common live born autosomal aneuploidies in humans. While the anatomic abnormalities in affected fetuses are well documented, the dysregulated biological pathways associated...
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Article
Fetal genes in mother's blood
The genome sequence of a fetus can be inferred from the relative numbers of variants of DNA sequences in a pregnant woman's blood. This advance in non-invasive diagnostics comes with some ramifications. See Artic...
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Article
From prenatal genomic diagnosis to fetal personalized medicine: progress and challenges
Genomic technologies are being rapidly applied to the area of prenatal diagnosis, and many genomic prenatal tests have already been transitioned to the clinic. Diana Bianchi reviews these advances in prentatal...
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Article
Open AccessIncreased incidence of pregnancy complications in women who later develop scleroderma: a case control study
Studies have shown that fetal progenitor cells persist in maternal blood or bone marrow for more than 30 years after delivery. Increased trafficking of fetal cells occurs during pregnancy complications, such a...
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Article
Transcriptomic analysis of cell-free fetal RNA suggests a specific molecular phenotype in trisomy 18
Trisomy 18 is a common human aneuploidy that is associated with significant perinatal mortality. Unlike the well-characterized “critical region” in trisomy 21 (21q22), there is no corresponding region on chrom...
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Chapter and Conference Paper
A “Fluid-Agnostic” Approach to Analysis of Fetal and Neonatal Developmental Gene Expression
To date, most research on fetal nucleic acid trafficking in the maternal circulation has largely concentrated on noninvasive prenatal diagnosis of trisomy 21 and single gene disorders using circulating cell-fr...
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Article
Microchimerism in Endocrine Pathology
Chimerism in an individual refers to the coexistence of cells arising from two distinct organisms. It can arise iatrogenically via transplant or blood transfusion, and physiologically via twin to twin transfer, o...
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Protocol
Method for Extraction of High-Quantity and -Quality Cell-Free DNA from Amniotic Fluid
Circulating cell-free fetal deoxyribonucleic acids (cffDNAs) are promising biomarkers with various potential clinical applications. Second and third trimester amniotic fluid (AF) is a rich source of cffDNAs. F...
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Article
Maternal serum cell-free fetal DNA levels are increased in cases of trisomy 13 but not trisomy 18
Cell-free fetal DNA in the maternal circulation is a potential noninvasive marker for fetal aneuploidies. In previous studies with Y DNA as a fetal-specific marker, levels of circulating fetal DNA were shown ...
