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Fetal Echocardiography and Pulsed-wave Doppler Ultrasound in a Rabbit Model of Intrauterine Growth Restriction
Published on: June 29, 2013
Prenatal Fetal Growth Restriction and Cardiomyopathy Associated With an Unbalanced der(15)t(7;15): A Case Report
Yoko Nagayasu1, Nagisa Ishikawa1, Seiichiro Nao1
1Department of Obstetrics and Gynecology Osaka Medical and Pharmaceutical University Osaka Japan.
Severe fetal growth restriction and cardiomyopathy can signal chromosomal issues. Genetic testing is crucial for management and family planning, including preimplantation genetic testing for structural rearrangements (PGT-SR).
Area of Science:
- Reproductive genetics
- Fetal medicine
- Clinical genetics
Background:
- Severe fetal growth restriction (FGR) and cardiomyopathy are serious conditions.
- These findings in a fetus may suggest an underlying chromosomal abnormality.
- Accurate diagnosis is vital for appropriate genetic counseling and clinical management.
Purpose of the Study:
- To highlight the association between severe FGR with cardiomyopathy and chromosomal abnormalities.
- To emphasize the importance of genetic evaluation in such cases.
- To discuss reproductive options for affected families.
Main Methods:
- Review of clinical cases and genetic findings.
- Correlation of fetal phenotypes (FGR, cardiomyopathy) with cytogenetic results.
- Discussion of genetic testing modalities.
Main Results:
- Severe FGR combined with cardiomyopathy is a potential indicator of chromosomal anomalies.
- Genetic evaluation provides essential information for prognosis and counseling.
- Preimplantation genetic testing for structural rearrangements (PGT-SR) is a viable option for future pregnancies.
Conclusions:
- Genetic evaluation is indispensable for fetuses presenting with severe FGR and cardiomyopathy.
- Early identification of chromosomal abnormalities guides management and reproductive decisions.
- PGT-SR offers a method for preventing recurrence of chromosomal abnormalities in families with known structural rearrangements.
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