Array technology, here termed molecular karyotyping, is an attractive alternative to conventional karyotyping for prenatal diagnosis given the increase in resolution as well as faster report times. We review the benefits and limitations of this technique for the detection of pathogenic genomic imbalances, address the challenges raised in the interpretation of copy number variations, discuss practical considerations for the routine implementation of molecular karyotyping in prenatal diagnosis, and identify areas where more research is desired to enable large scale introduction of the technique(s).
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.siny.2010.12.001 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Haplotype-Resolved Genotyping and Association Analysis of 1,020 β-Thalassemia Patients by Targeted Long-Read Sequencing.
Adv Sci (Weinh)
December 2024
Innovation Center for Diagnostics and Treatment of Thalassemia, Nanfang Hospital, Southern Medical University, Guangzhou, Guangdong, 510515, China.
Despite the well-documented mutation spectra of β-thalassemia, the genetic variants and haplotypes of globin gene clusters modulating its clinical heterogeneity remain incompletely illustrated. Here, a targeted long-read sequencing (T-LRS) is demonstrated to capture 20 genes/loci in 1,020 β-thalassemia patients. This panel permits not only identification of thalassemia mutations at 100% of sensitivity and specificity, but also detection of rare structural variants (SVs) and single nucleotide variants (SNVs) in modifier genes/loci.
View Article and Find Full Text PDFCurrent and Emerging Techniques for Diagnosis of Toxoplasmosis in Pregnancy: A Narrative Review.
Iran J Parasitol
January 2024
Center for Research of Endemic Parasites of Iran, Tehran University of Medical Sciences, Tehran, Iran.
is an intracellular parasite capable of crossing the placenta in pregnancy and infecting the developing fetus, leading to various congenital anomalies and even abortion. Acute infection is responsible for almost all cases of congenital toxoplasmosis in immunocompetent pregnant women. Prenatal screening for acute toxoplasmosis primarily involves maternal serology and fetal ultrasound imaging.
View Article and Find Full Text PDFEpidemiologic Characterization and Risk Factors for Congenital Syphilis in Northeast Mexico: A Case-control Study 2016-2024.
Pediatr Infect Dis J
October 2024
Department of Epidemiology and Surveillance, Hospital Christus Muguerza Alta Especialidad, Monterrey, México.
Background: Congenital syphilis (CS) is an infectious disease caused by Treponema pallidum, which is transmitted through the placenta during pregnancy. Since 2001, a notable and consistent rise in the prevalence of CS cases has been observed, especially in low- and middle-income countries. Currently, information regarding the risk factors for this phenomenon has been scarcely addressed.
View Article and Find Full Text PDFAntenatal detection of pediatric surgical congenital abnormalities and its effect on maternal anxiety: a multicentre prospective study in a middle-income country.
Pediatr Surg Int
December 2024
Division of Paediatric & Neonatal Surgery, Department of Surgery, Faculty of Medicine, University of Malaya, 50603, Kuala Lumpur, Malaysia.
Background: In middle-income countries, healthcare systems face unique challenges in ensuring timely antenatal detection of congenital abnormalities that require pediatric surgical intervention. Early detection can significantly improve outcomes, yet resource constraints often limit access to diagnostic technologies. This study evaluates the antenatal detection rate of congenital abnormalities referred to pediatric surgical services in three Malaysian tertiary centers and examines its effect on maternal anxiety.
View Article and Find Full Text PDFCholesterol mediates the potential adverse influence of graphene quantum dots on placental lipid membrane model.
Sci Rep
December 2024
College of Physical Science and Technology, Yangzhou University, Yangzhou, 225009, Jiangsu, China.
Nanomaterial-biomembrane interactions constitute a critical biological process in assessing the toxicity of such materials in theoretical studies. However, many investigations simplify these interactions by using membrane models containing only one or a few lipid types, deviating significantly from the complexity of real membrane compositions. In particular, cholesterol, a ubiquitous lipid essential for regulating membrane fluidity and closely linked to various diseases, is often overlooked.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!