Jacobsen syndrome detected by noninvasive prenatal testing
Jamie O Lo1, Cori D Feist, Jason Hashima
1Department of Obstetrics and Gynecology, Division of Maternal Fetal Medicine, Oregon Health & Sciences University, and the Department of Perinatology, Kaiser Permanente, Portland, Oregon.
Obstetrics and Gynecology
|January 9, 2015
Summary
Noninvasive prenatal testing (NIPT) can detect rare chromosomal abnormalities like Jacobsen syndrome. This case highlights NIPT
Area of Science:
- Genetics
- Prenatal Diagnostics
Background:
- Noninvasive prenatal testing (NIPT) effectively screens for common fetal chromosomal aneuploidies.
- The detection and validation of rarer chromosomal abnormalities by NIPT remain less understood.
Observation:
- A case of Jacobsen syndrome, characterized by a deletion on chromosome 11q, was identified.
- Detection was achieved via NIPT at 14 weeks gestation.
Findings:
- Jacobsen syndrome was confirmed through neonatal array chromosomal genomic hybridization.
- NIPT demonstrated capability in identifying submicroscopic chromosomal deletions.
Implications:
- NIPT should be considered for fetal anomalies when invasive testing is declined.
- Further studies are needed to define NIPT's screening characteristics for submicroscopic chromosomal abnormalities.
- Confirmation with diagnostic testing is crucial for any additional submicroscopic findings by NIPT.
More Related Videos
Related Concept Videos
01:21Nondisjunction
6.0K
Nondisjunction is the failure of homologous chromosomes or sister chromatids to separate correctly and move to the opposite poles of the cells. This produces daughter cells with abnormal chromosome numbers. Nondisjunction is common during anaphase I or anaphase II of meiosis. Mutations in synaptonemal complex proteins that attach homologous chromosomes increase the chances of nondisjunction in anaphase I of meiosis I. In contrast, mutations in topoisomerases and condensins that hold...
6.0K
01:29Nondisjunction
10.3K
10.3K
01:29Nondisjunction
84.2K
During meiosis, chromosomes occasionally separate improperly. This occurs due to failure of homologous chromosome separation during meiosis I or failed sister chromatid separation during meiosis II. In some species, notably plants, nondisjunction can result in an organism with an entire additional set of chromosomes, which is called polyploidy. In humans, nondisjunction can occur during male or female gametogenesis and the resulting gametes possess one too many or one too few chromosomes.
84.2K
01:23Mitral Stenosis II: Clinical features and Diagnostic Tests
513
Mitral stenosis is a heart condition in which the mitral valve, which allows blood to flow from the left atrium to the left ventricle, becomes narrowed or stenotic. This narrowing hinders blood flow and leads to clinical symptoms requiring specific medical evaluations and management strategies. The following overview outlines the clinical symptoms, assessments, diagnostic findings, prevention methods, and treatments for mitral stenosis.Clinical ManifestationsDyspnea (shortness of breath): This...
513
01:35Pedigree Analysis
91.6K
Overview
91.6K
01:19Autism Spectrum Disorder
2.0K
Autism spectrum disorder (ASD) is a neurodevelopmental condition marked by persistent deficits in social communication and interaction alongside restrictive and repetitive behaviors or interests. ASD is sometimes accompanied by intellectual impairment.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
2.0K