PubMed Health⌕ Search
Home/Archive/PubMed

PubMed · 9718659

Screening for chromosomal abnormality.

P A Dubbins
View original source ↗Export metadata ↓

Abstract

Screening for fetal abnormalities has become one of the most high profile health care issues of modern times. This issue is predicated on major advances in health care technology that permit wider detection of fetal anomalies, including the development of more advanced biochemical markers and improvements in ultrasound imaging. The effectiveness of these screening methods and their rational application is a point of great controversy, and is the cause of considerable unease in clinical obstetrical practice. This article reviews the general concepts of fetal screening for fetal chromosome abnormalities and then focuses on certain aspects of ultrasound screening that are particularly controversial. The scientific basis for each ultrasound finding (e.g., nuchal translucency) is reviewed, as well as the frequently divergent clinical experience with the finding. Finally, a plea is made for the development of a more scientific database for fetal ultrasound screening, and the setting of fetal screening guidelines for practicing physicians based on diagnostic accuracy and cost-effectiveness.

Explore related subjects

AneuploidyChromosome AberrationsChromosome DisordersCongenital AbnormalitiesFemaleFetal DiseasesHumansPregnancyUltrasonography, PrenatalJournal ArticleReview

Keep this discovery

Explore connections, maps & timelines

BibTeXRIS

P A Dubbins. 1998. Screening for chromosomal abnormality.. https://doi.org/10.1016/s0887-2171(98)90088-9

Cite the original work for its findings. Save a collection to share your selection of sources.

KEEP EXPLORING

Related citations

PubMed2026

Maternal age as a driver of genome instability: mechanisms linking aneuploidy, mutagenesis and mitochondrial dysfunction.

Advanced maternal age is a well-established risk factor for adverse reproductive outcomes due to increased rates of aneuploidy. However, emerging evidence indicates that the genetic consequences of maternal aging extend well beyond chromosome mis-segregation. Aging oocytes acquire a broad spectrum of genetic abnormalities, including maternally derived nuclear de novo mutations (DNMs) and mitochondrial DNA mutations, together with epigenetic dysregulation of DNA methylation and post-translational modification levels. These changes reflect the unique biology of the female germline in which oocytes remain arrested in meiotic prophase I for decades. Age-related deterioration of key processes, such as erosion of cohesion complexes, altered meiotic recombination, and weakened spindle assembly checkpoint surveillance collectively destabilize meiotic chromosome architecture, directly driving chromosome mis-segregation. At the same time, accumulation of endogenous DNA damage and declining DNA damage and repair processes increase the chances of transmitting lesions that can be converted into sequence-level mutations during the earliest embryonic divisions, when genome maintenance relies exclusively on maternal factors. High-resolution sequencing studies further demonstrate that maternal aging is associated with increased DNMs burden in both nuclear and mitochondrial DNA. Together, these findings support a model in which maternal aging is a driver of genome-wide instability that links aneuploidy and mutagenesis through shared defects in meiotic surveillance, declining DNA repair efficiency, and mitochondrial function. This framework positions delayed childbearing as a multifaceted genetic risk factor that extend beyond aneuploidy to include mutations and other genomic alterations that can impact intergenerational genetic risk.

Aneuploidy↗
PubMed2025

Modeling and targeting general and chromosome-specific aneuploidy in cancer.

Throughout the last century, aneuploidy has been cemented as a hallmark of cancer. Although the association of aneuploidy with tumorigenesis has been well established, the role of these genetic imbalances in tumor formation has only recently begun to be elucidated. Advancements in genomics have revealed the complexity and context dependence of the effect of aneuploidy on cancer growth, while developments in genetic editing have allowed for proper modeling of specific aneuploidies. In this review, we discuss the key factors to consider when studying the role of aneuploidy in cancer and the tools that are available to do so. We then highlight recent studies that establish phenotypic contributions of aneuploidy to tumorigenicity. In particular, we highlight how general aneuploidy and chromosomal instability affect the tumor microenvironment and how specific chromosomal alterations, including the loss of chromosome 9p and the gain of chromosomes 8q and 1q, influence tumor behavior and therapeutic responses. Finally, we emphasize the potential of targeting aneuploidy-induced vulnerabilities to improve cancer treatment outcomes.

Aneuploidy↗