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 Video

Updated: May 19, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

Sonogenetics in fetal neurology.

Ritsuko K Pooh¹

¹CRIFM Clinical Research Institute of Fetal Medicine PMC, 7-3-7, Uehommachi, Tennoji, Osaka #543-0001, Japan. pooh.ritsuko@ritz-med.com

Seminars in Fetal & Neonatal Medicine

|August 28, 2012

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

Multicenter study of fetal crown-rump length measurement using 3D ultrasound in assisted reproductive technology pregnancies.

Journal of medical ultrasonics (2001)·2026

Same author

First-Trimester Detection of Conotruncal Anomalies Using Transabdominal SlowflowHD: A Case Series and Proof-of-Concept Study.

Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine·2025

Same author

Effect of aspirin on small for gestational age neonates in pregnancies at high-risk for preeclampsia: a secondary analysis of a cluster randomised clinical trial.

The Lancet regional health. Western Pacific·2025

Same author

Impact of Aspirin on Timing of Birth in Pregnancies With Clinical Manifestations of Placental Dysfunction: Evidence From a Multicentre Randomised Clinical Trial.

BJOG : an international journal of obstetrics and gynaecology·2025

Same author

The fetal brain neurosonography in trisomy 21: the seagull sign and thinned subplate.

American journal of obstetrics and gynecology·2025

Same author

Implementation of First-Trimester Screening and Prevention of Preeclampsia: A Stepped Wedge Cluster-Randomized Trial in Asia.

Circulation·2024

Array-comparative genomic hybridization (aCGH) detects copy number variations in fetuses with suspected genetic disorders when standard karyotyping is normal. This advanced fetal imaging technique aids in diagnosing complex genetic conditions, emphasizing the fetus as the primary patient.

Area of Science:

Prenatal Diagnosis
Medical Genetics
Fetal Imaging

Background:

Fetal imaging advancements enable earlier detection of structural abnormalities, shifting diagnoses from the second/third to the first trimester.
Prenatal diagnosis of genetic disorders is often based on fetal imaging findings, but dilemmas arise in cases with normal karyotypes yet suspected genetic issues.
Multiple minor fetal abnormalities detected via sonography can increase parental anxiety and complicate genetic counseling.

Observation:

Array-comparative genomic hybridization (aCGH) offers high-resolution analysis of DNA copy number variations (CNVs).
In seven cases with abnormal fetal brain structures on imaging, aCGH identified abnormal CNVs, while conventional karyotyping results were normal.
This highlights aCGH's utility in detecting submicroscopic genetic alterations not visible with standard karyotyping.

More Related Videos

Neonatal Pial Surface Electroporation

Neonatal Pial Surface Electroporation

Published on: May 7, 2014

Neonatal Subventricular Zone Electroporation

Neonatal Subventricular Zone Electroporation

Published on: February 11, 2013

Related Experiment Videos

Last Updated: May 19, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

Neonatal Pial Surface Electroporation

Neonatal Pial Surface Electroporation

Published on: May 7, 2014

Neonatal Subventricular Zone Electroporation

Neonatal Subventricular Zone Electroporation

Published on: February 11, 2013

Findings:

aCGH successfully identified abnormal copy number variations (CNVs) in fetuses with suspected genetic disorders where conventional karyotyping was inconclusive.
The study demonstrated the effectiveness of aCGH in diagnosing genetic abnormalities suggested by fetal imaging but not revealed by standard genetic tests.
These findings underscore the value of advanced molecular techniques in refining prenatal diagnoses.

Implications:

The integration of 'sonogenetics,' prioritizing the fetus, is crucial in the era of molecular genetics, requiring careful patient selection and counseling.
While non-invasive prenatal testing advances, direct fetal observation remains paramount to avoid misleading diagnoses, reinforcing the 'fetus as a patient' principle.
aCGH represents a significant step forward in diagnosing subtle genetic disorders, improving prenatal care and parental decision-making.