PEDIATRICS

Preimplantation Genetic Testing

Jan 5, 2020 by in PEDIATRICS Comments Off on Preimplantation Genetic Testing

Abbreviations aCGH Array comparative genomic hybridization AF Amniotic fluid CRISPR Clustered regularly interspaced short palindromic repeat CVS Chorionic villus sampling FISH Fluorescence in situ hybridization HDR Homology directed repair ICM…

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Fetal Treatment of Genetic Disorders

Jan 5, 2020 by in PEDIATRICS Comments Off on Fetal Treatment of Genetic Disorders

In Utero Stem Cell Transplantation In utero hematopoietic stem cell transplantation (IUHCT) is a promising approach to treat congenital genetic disorders. IUHCT offers multiple therapeutic advantages over postnatal bone marrow…

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Chromosomal Microarray Analysis

Jan 5, 2020 by in PEDIATRICS Comments Off on Chromosomal Microarray Analysis

Introduction For more than half a century, classical cytogenetics was the standard of care in the diagnosis of developmental disabilities and congenital anomalies. More recently, the introduction of microarray technology…

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Prenatal Diagnostic Testing

Jan 5, 2020 by in PEDIATRICS Comments Off on Prenatal Diagnostic Testing

Introduction Testing is available for an ever-increasing number of genetic disorders. Although prenatal testing originally focused primarily on Down syndrome, it is now possible to detect a broad range of…

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Exome and Genome Sequencing

Jan 5, 2020 by in PEDIATRICS Comments Off on Exome and Genome Sequencing

Introduction Current standards for prenatal genetic screening and testing are highly focused on detection of aneuploidies that are compatible with live birth, including trisomy 21, which affects 1:600 newborns overall…

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Genetic Evaluation of Fetal Sonographic Abnormalities

Jan 5, 2020 by in PEDIATRICS Comments Off on Genetic Evaluation of Fetal Sonographic Abnormalities

Introduction Structural malformations, many of which can be diagnosed antenatally, are present in approximately 2%–3% of live births. Fetuses with structural malformations are at increased risk for an underlying genetic…

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Cell-Free DNA Screening

Jan 5, 2020 by in PEDIATRICS Comments Off on Cell-Free DNA Screening

Overview Cell-free DNA (cfDNA) screening has been rapidly introduced into prenatal care since it became clinically available in 2011. cfDNA screening can detect more than 99% of cases of trisomy…

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Molecular Genetics

Jan 5, 2020 by in PEDIATRICS Comments Off on Molecular Genetics

Introduction In 2003, the sequencing of the human genome propelled the field of genetics in two important directions. Firstly, the concept of “genomics” emerged, which includes both the DNA sequence…

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