Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Search research articles

Related Experiment Videos

Techniques in current use in prenatal diagnosis

L S Chitty¹, M Bobrow

¹Guy's Hospital.

International Journal of Technology Assessment in Health Care

|January 1, 1994

Summary

This summary is machine-generated.

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

The incremental yield of prenatal exome sequencing over chromosome microarray for congenital heart abnormalities: A systematic review and meta-analysis.

Prenatal diagnosis·2024

Same author

Fetal exome sequencing for isolated increased nuchal translucency: should we be doing it?

BJOG : an international journal of obstetrics and gynaecology·2021

Same author

Fetal hydrops and the Incremental yield of Next-generation sequencing over standard prenatal Diagnostic testing (FIND) study: prospective cohort study and meta-analysis.

Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology·2021

Same author

Evidence to Support the Clinical Utility of Prenatal Exome Sequencing in Evaluation of the Fetus with Congenital Anomalies: Scientific Impact Paper No. 64 [February] 2021.

BJOG : an international journal of obstetrics and gynaecology·2021

Same author

Non-invasive prenatal diagnosis and screening for monogenic disorders.

European journal of obstetrics, gynecology, and reproductive biology·2020

Same author

COngenital heart disease and the Diagnostic yield with Exome sequencing (CODE) study: prospective cohort study and systematic review.

Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology·2020

Prenatal diagnosis is widely available, enabling early detection of genetic disorders during pregnancy. Advanced techniques also allow for carrier identification before conception.

Area of Science:

Obstetrics and Gynecology
Medical Genetics
Reproductive Medicine

Background:

Prenatal diagnosis is a standard offering for most pregnancies in Europe and the US.
Technological advancements have expanded the scope of detectable conditions.
Genetic carrier screening is increasingly available prior to pregnancy.

Purpose of the Study:

To review current obstetric and laboratory techniques for prenatal screening.
To discuss the prenatal diagnosis of genetic disorders.
To highlight advancements in reproductive genetic testing.

Main Methods:

Review of current obstetric screening protocols.
Analysis of laboratory diagnostic techniques for genetic disorders.
Discussion of pre-conception carrier screening methods.

Related Experiment Videos

Main Results:

A broad range of genetic conditions can now be diagnosed prenatally.
Identification of gene carriers before pregnancy is becoming feasible.
Current techniques offer comprehensive prenatal genetic evaluation.

Conclusions:

Prenatal diagnosis and screening are integral components of modern obstetric care.
Technological progress continues to enhance the capabilities of prenatal genetic testing.
Early identification of genetic conditions improves reproductive decision-making.