Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Basic concepts in biochemical antenatal diagnosis

E E Grebner1

  • 1Division of Medical Genetics, Thomas Jefferson University, Philadelphia, Pennsylvania.

Obstetrics and Gynecology Clinics of North America
|September 1, 1993
PubMed
Summary

Accurate prenatal diagnosis of inherited metabolic disorders requires specialized biochemical tests. Proper sample collection and expert interpretation are crucial to avoid errors and ensure reliable results.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Heterozygosity for Tay-Sachs disease in non-Jewish Americans with ancestry from Ireland or Great Britain.

Journal of medical genetics·1996
Same author

Substitution of alanine543 with a threonine residue at the carboxy terminal end of the beta-chain is associated with thermolabile hexosaminidase B in a Jewish family of Oriental ancestry.

Biochemical and molecular medicine·1995
Same author

Three novel beta-hexosaminidase A mutations in obligate carriers of Tay-Sachs disease.

Human mutation·1994
Same author

Distribution of a pseudodeficiency allele among Tay-Sachs carriers.

American journal of human genetics·1993
Same author

A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: implications for carrier screening.

American journal of human genetics·1992
Same author

An unusual genotype in an Ashkenazi Jewish patient with Tay-Sachs disease.

Human mutation·1992

Area of Science:

  • Biochemistry
  • Medical Genetics
  • Prenatal Diagnostics

Background:

  • Inherited metabolic disorders represent a diverse group of genetic conditions.
  • Accurate diagnosis is essential for timely intervention and management.
  • Prenatal diagnosis offers critical information for family planning and early treatment.

Purpose of the Study:

  • To highlight the complexities and critical factors in biochemical testing for inherited metabolic disorders.
  • To emphasize the importance of expertise and proper procedures in achieving accurate prenatal diagnoses.

Main Methods:

  • Biochemical assays specific to individual inherited metabolic disorders.
  • Analysis of tissue samples for metabolic markers.
  • Expert interpretation of complex biochemical data.

Main Results:

  • Each inherited metabolic disorder necessitates a unique biochemical test.
  • Test interpretation demands significant expertise due to inherent complexities.
  • Improper procedures or inadequate samples can lead to exaggerated pitfalls.

Conclusions:

  • Accurate prenatal diagnosis hinges on reliable assays performed competently.
  • Well-prepared samples are fundamental for successful diagnostic testing.
  • Specialized knowledge and meticulous technique are paramount in biochemical testing for inherited metabolic disorders.

Related Experiment Videos