title: An Overview on Prenatal Screening for Chromosomal Aberrations.
abstract: This article is a review of current and emerging methods used for prenatal detection of chromosomal aneuploidies. Chromosomal anomalies in the developing fetus can occur in any pregnancy and lead to death prior to or shortly after birth or to costly lifelong disabilities. Early detection of fetal chromosomal aneuploidies, an atypical number of certain chromosomes, can help parents evaluate their pregnancy options. Current diagnostic methods include maternal serum sampling or nuchal translucency testing, which are minimally invasive diagnostics, but lack sensitivity and specificity. The gold standard, karyotyping, requires amniocentesis or chorionic villus sampling, which are highly invasive and can cause abortions. In addition, many of these methods have long turnaround times, which can cause anxiety in mothers. Next-generation sequencing of fetal DNA in maternal blood enables minimally invasive, sensitive, and reasonably rapid analysis of fetal chromosomal anomalies and can be of clinical utility to parents. This review covers traditional methods and next-generation sequencing techniques for diagnosing aneuploidies in terms of clinical utility, technological characteristics, and market potential.
authors.affiliation: Keck Graduate Institute, Claremont, CA, USA.
authors.forename: Lucas
authors.initials: L
authors.lastname: Hixson
authors.affiliation: Keck Graduate Institute, Claremont, CA, USA.
authors.forename: Srishti
authors.initials: S
authors.lastname: Goel
authors.affiliation: Keck Graduate Institute, Claremont, CA, USA.
authors.forename: Paul
authors.initials: P
authors.lastname: Schuber
authors.affiliation: Keck Graduate Institute, Claremont, CA, USA.
authors.forename: Vanessa
authors.initials: V
authors.lastname: Faltas
authors.affiliation: Keck Graduate Institute, Claremont, CA, USA.
authors.forename: Jessica
authors.initials: J
authors.lastname: Lee
authors.affiliation: Keck Graduate Institute, Claremont, CA, USA.
authors.forename: Anjali
authors.initials: A
authors.lastname: Narayakkadan
authors.affiliation: Keck Graduate Institute, Claremont, CA, USA.
authors.forename: Ho
authors.initials: H
authors.lastname: Leung
authors.affiliation: Keck Graduate Institute, Claremont, CA, USA Jim_Osborne@kgi.edu.
authors.forename: Jim
authors.initials: J
authors.lastname: Osborne
mesh_terms: D000782:Aneuploidy; D057205:Automation, Laboratory; D002869:Chromosome Aberrations / Q000196:embryology*; D025063:Chromosome Disorders / Q000097:blood / Q000175:diagnosis* / Q000196:embryology; D004247:DNA / Q000097:blood / Q000737:chemistry; D005260:Female; D005820:Genetic Testing / Q000639:trends; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D007621:Karyotyping / Q000639:trends; D062145:Maternal Serum Screening Tests / Q000009:adverse effects / Q000639:trends; D008431:Maternal-Fetal Exchange; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000009:adverse effects / Q000639:trends; D017422:Sequence Analysis, DNA / Q000639:trends
chemical_list: D004247:DNA
keywords: Down syndrome; aneuploidy; chromosomes; next-generation sequencing; screening; trisomy