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Prenatal Diagnosis

Overview of attention for book
Cover of 'Prenatal Diagnosis'

Table of Contents

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    Book Overview
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    Chapter 1 Spectral Karyotyping (SKY): Applications in Prenatal Diagnostics
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    Chapter 2 Characterization of Prenatally Assessed De Novo Small Supernumerary Marker Chromosomes by Molecular Cytogenetics
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    Chapter 3 Rapid Prenatal Aneuploidy Screening by Fluorescence In Situ Hybridization (FISH)
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    Chapter 4 Application of Multi-PRINS to Simultaneously Identify Chromosomes 18, X, and Y in Prenatal Diagnosis
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    Chapter 5 Prenatal Diagnosis Using Array CGH
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    Chapter 6 Prenatal Detection of Chromosome Aneuploidy by Quantitative Fluorescence PCR
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    Chapter 7 Real-Time Quantitative PCR for the Detection of Fetal Aneuploidies
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    Chapter 8 MLPA for Prenatal Diagnosis of Commonly Occurring Aneuploidies
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    Chapter 9 MALDI-TOF Mass Spectrometry for Trisomy Detection
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    Chapter 10 Rapid Detection of Fetal Mendelian Disorders: Thalassemia and Sickle Cell Syndromes
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    Chapter 11 Rapid detection of fetal Mendelian disorders: Tay-Sachs disease.
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    Chapter 12 Arrayed Primer Extension Reaction for Genotyping on Oligonucleotide Microarray
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    Chapter 13 A Fast Microelectronic Array for Screening and Prenatal Diagnosis of β-Thalassemia
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    Chapter 14 RHD Genotyping from Maternal Plasma: Guidelines and Technical Challenges
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    Chapter 15 Isolation of Cell-Free DNA from Maternal Plasma Using Manual and Automated Systems
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    Chapter 16 Fetal DNA: Strategies for Optimal Recovery
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    Chapter 17 Quantification of Circulatory Fetal DNA in the Plasma of Pregnant Women
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    Chapter 18 Detection and Quantification of Fetal DNA in Maternal Plasma by Using LightCycler Technology
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    Chapter 19 Size Fractionation of Cell-Free DNA in Maternal Plasma and Its Application in Noninvasive Detection of Fetal Single Gene Point Mutations
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    Chapter 20 MALDI-TOF Mass Spectrometry for Analyzing Cell-Free Fetal DNA in Maternal Plasma
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    Chapter 21 Isolation of Cell-Free RNA from Maternal Plasma
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    Chapter 22 A Microarray Approach for Systematic Identification of Placental-Derived RNA Markers in Maternal Plasma
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    Chapter 23 A Novel Method to Identify Syncytiotrophoblast-Derived RNA Products Representative of Trisomy 21 Placental RNA in Maternal Plasma
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    Chapter 24 Method for Extraction of High-Quantity and -Quality Cell-Free DNA from Amniotic Fluid
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    Chapter 25 Detection of New Screening Markers for Fetal Aneuploidies in Maternal Plasma: A Proteomic Approach
Attention for Chapter 11: Rapid detection of fetal Mendelian disorders: Tay-Sachs disease.
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About this Attention Score

  • Above-average Attention Score compared to outputs of the same age (62nd percentile)
  • High Attention Score compared to outputs of the same age and source (81st percentile)

Mentioned by

1 Wikipedia page


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Chapter title
Rapid detection of fetal Mendelian disorders: Tay-Sachs disease.
Chapter number 11
Book title
Prenatal Diagnosis
Published in
Methods in molecular biology, April 2008
DOI 10.1007/978-1-59745-066-9_11
Pubmed ID
Book ISBNs
978-1-58829-803-4, 978-1-59745-066-9

Esther Guetta, Leah Peleg


Tay-Sachs disease is an autosomal recessive storage disease caused by the impaired activity of the lysosomal enzyme hexosaminidase A. In this fatal disease, the sphingolipid GM2 ganglioside accumulates in the neurons. Due to high carrier rates and the severity of the disease, population screening and prenatal diagnosis of Tay-Sachs disease are routinely carried out in Israel. Laboratory diagnosis of Tay-Sachs is carried out with biochemical and DNA-based methods in peripheral and umbilical cord blood, amniotic fluid, and chorionic villi samples. The assay of hexosaminidase A (Hex A) activity is carried out with synthetic substrates, 4-methylumbelliferyl-6-sulfo-N-acetyl-beta-glucosaminide (4-MUGS) and 4-methylumbelliferil-N-acetyl-beta-glucosamine (4-MUG), and the DNA-based analysis involves testing for the presence of specific known mutations in the alpha-subunit gene of Hex A. Prenatal diagnosis of Tay-Sachs disease is accomplished within 24-48 h from sampling. The preferred strategy is to simultaneously carry out enzymatic analysis in the amniotic fluid supernatant or in chorionic villi and molecular DNA-based testing in an amniotic fluid cell-pellet or in chorionic villi.

Mendeley readers

The data shown below were compiled from readership statistics for 6 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 6 100%

Demographic breakdown

Readers by professional status Count As %
Other 2 33%
Researcher 1 17%
Student > Bachelor 1 17%
Student > Master 1 17%
Unknown 1 17%
Readers by discipline Count As %
Medicine and Dentistry 4 67%
Chemistry 1 17%
Unknown 1 17%

Attention Score in Context

This research output has an Altmetric Attention Score of 3. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 28 April 2008.
All research outputs
of 17,360,236 outputs
Outputs from Methods in molecular biology
of 9,915 outputs
Outputs of similar age
of 297,838 outputs
Outputs of similar age from Methods in molecular biology
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Altmetric has tracked 17,360,236 research outputs across all sources so far. This one is in the 47th percentile – i.e., 47% of other outputs scored the same or lower than it.
So far Altmetric has tracked 9,915 research outputs from this source. They receive a mean Attention Score of 2.7. This one has done well, scoring higher than 78% of its peers.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 297,838 tracked outputs that were published within six weeks on either side of this one in any source. This one has gotten more attention than average, scoring higher than 62% of its contemporaries.
We're also able to compare this research output to 870 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 81% of its contemporaries.