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Related Concept Videos

Genetic Screens02:46

Genetic Screens

Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which result in visible changes...
Ultrasonography01:17

Ultrasonography

Ultrasonography is an imaging technique that uses high-frequency sound waves to visualize the body's internal structures. It is a non-invasive and safe procedure that does not involve the use of ionizing radiation, making it widely used in various medical fields. Ultrasonography is used to study heart function, blood flow in the neck or extremities, certain conditions such as gallbladder disease, and fetal growth and development.
During an ultrasonography procedure, a handheld device called a...
Karyotyping01:17

Karyotyping

Describing the number and physical features of chromosomes can reveal abnormalities that underlie genetic diseases. This description is facilitated by special staining techniques that produce a particular banding pattern on each chromosome. State-of-the-art techniques make this approach even more powerful, enabling the detection of individual genes that cause disease.A Simple Chromosome Staining Technique Provides Valuable Scientific InsightSome genetic diseases can be detected by looking at...
Karyotyping01:17

Karyotyping

Describing the number and physical features of chromosomes can reveal abnormalities that underlie genetic diseases. This description is facilitated by special staining techniques that produce a particular banding pattern on each chromosome. State-of-the-art techniques make this approach even more powerful, enabling the detection of individual genes that cause disease.A Simple Chromosome Staining Technique Provides Valuable Scientific InsightSome genetic diseases can be detected by looking at...
Imaging Studies II: Ultrasonography01:24

Imaging Studies II: Ultrasonography

IntroductionUltrasonography, or renal ultrasound, is a noninvasive medical imaging technique that uses high-frequency sound waves to visualize the kidneys, ureters, bladder, and surrounding tissues.Indications for Urinary System UltrasonographyUrinary system ultrasonography is indicated in various clinical scenarios, such as:Kidney Stones (Urolithiasis): To detect and monitor the size and presence of kidney or urinary tract stones.Hydronephrosis: To assess the dilation of the renal pelvis and...
Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...

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Related Experiment Video

Updated: Jun 19, 2026

FISH for Pre-implantation Genetic Diagnosis
07:34

FISH for Pre-implantation Genetic Diagnosis

Published on: February 23, 2011

[The genetic sonogram].

Moshe Ben-Ami1, Jimmy Edward Jadaon

  • 1Department of Obstetrics and Gynecology, Baruch Padeh Medical Center, Poria Hospita, and Bruce Rappaport SchooL of Medicine, Technion, Haifa, Israel. mbenamy@poria.health.gov.il

Harefuah
|October 24, 2009
PubMed
Summary

Mid-trimester genetic sonograms identify soft markers for aneuploidy. Significant markers like nuchal thickness and absence of nasal bone aid risk assessment, reducing unnecessary invasive procedures.

Area of Science:

  • Prenatal Diagnosis
  • Medical Imaging
  • Genetics

Background:

  • Aneuploidies are chromosomal abnormalities often detected during prenatal screening.
  • Mid-trimester sonographic markers have shown associations with fetal aneuploidies.

Purpose of the Study:

  • To describe sonographic markers used in genetic sonograms for aneuploidy detection.
  • To review current literature on the significance of these soft markers.

Main Methods:

  • Review of literature on sonographic markers for aneuploidy.
  • Categorization of markers based on significance (isolated vs. combined findings).

Main Results:

  • Significant soft markers include nuchal thickness, echogenic bowel, shortened limbs, and absent nasal bone.

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Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
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Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Published on: August 17, 2022

Microsatellite DNA Genotyping and Flow Cytometry Ploidy Analyses of Formalin-fixed Paraffin-embedded Hydatidiform Molar Tissues
11:54

Microsatellite DNA Genotyping and Flow Cytometry Ploidy Analyses of Formalin-fixed Paraffin-embedded Hydatidiform Molar Tissues

Published on: October 20, 2019

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Last Updated: Jun 19, 2026

FISH for Pre-implantation Genetic Diagnosis
07:34

FISH for Pre-implantation Genetic Diagnosis

Published on: February 23, 2011

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
09:30

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Published on: August 17, 2022

Microsatellite DNA Genotyping and Flow Cytometry Ploidy Analyses of Formalin-fixed Paraffin-embedded Hydatidiform Molar Tissues
11:54

Microsatellite DNA Genotyping and Flow Cytometry Ploidy Analyses of Formalin-fixed Paraffin-embedded Hydatidiform Molar Tissues

Published on: October 20, 2019

  • Other markers like intracardiac echogenic focus and choroid plexus cyst are significant when combined with biochemical markers or in older patients.
  • Findings reported in small series are not considered significant soft markers.

    • Conclusions:

    • Aneuploidy risk calculation should integrate maternal age, nuchal translucency, biochemical screening, and anomaly scan findings.
    • Recommending invasive karyotyping when risk exceeds 1:380 can decrease unnecessary procedures and abortions while improving detection rates.