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Updated: Jun 26, 2026
07:34
FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
Sonographic findings in trisomy 9.
Wade D Schwendemann1, Stephen A Contag, Joseph R Wax
1Department of Maternal-Fetal Medicine, Mayo Clinic College of Medicine, Rochester, MN 55905, USA. schwendemann.wade@mayo.edu
Summary
Prenatal ultrasound often reveals fetal heart defects and central nervous system malformations in fetuses with trisomy 9. These findings are crucial for genetic counseling due to the condition
Area of Science:
- Medical Genetics
- Prenatal Diagnosis
- Fetal Medicine
Background:
- Trisomy 9 is a rare chromosomal abnormality.
- Prenatal diagnosis of trisomy 9 is challenging.
- Characteristic sonographic markers are needed for early detection.
Purpose of the Study:
- To identify common prenatal sonographic findings in fetuses diagnosed with complete trisomy 9.
- To aid in the recognition of trisomy 9 during routine prenatal screening.
Main Methods:
- Retrospective review of trisomy 9 cases across five institutions over 15 years.
- Analysis of indications for referral and detailed sonographic findings.
- Identification of characteristic fetal structural anomalies.
Main Results:
- Six cases of trisomy 9 were analyzed.
- Common referral reasons included abnormal screening ultrasounds (66%) and advanced maternal age (33%).
- Frequent sonographic anomalies observed were fetal heart defects and central nervous system malformations.
Conclusions:
- Sonographic findings in trisomy 9 resemble those in other autosomal trisomies.
- Trisomy 9 is uniformly lethal and not part of standard prenatal aneuploidy screening.
- Caution is advised in counseling patients with abnormal fetal structures pending karyotype results.
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