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[Prenatal diagnosis of partial trisomy 9p]
S Vanderstichele1, J B Savary, P Dufour
1Service de Gynécologie-Obstétrique, Hôpital Jeanne-de-Flandre, Lille.
Summary
Prenatal diagnosis of partial trisomy 9p was achieved via ultrasound. This rare condition, caused by maternal translocation, often leads to termination due to its poor prognosis.
Area of Science:
- Medical Genetics
- Prenatal Diagnosis
- Fetal Ultrasound
Background:
- Trisomy for the distal half of the short arm of chromosome 9 (partial trisomy 9p) is a rare chromosomal abnormality.
- Genetic abnormalities detected prenatally significantly impact pregnancy management and outcomes.
- Accurate and timely diagnosis is crucial for informed decision-making.
Purpose of the Study:
- To report the first known case of prenatal diagnosis of partial trisomy 9p using morphologic ultrasound.
- To investigate the genetic cause of this specific trisomy.
- To discuss the implications for genetic counseling and pregnancy management.
Main Methods:
- Morphologic ultrasound examination for fetal anomaly detection.
- Karyotyping and genetic analysis to determine the chromosomal abnormality.
- Review of existing literature for similar cases.
Main Results:
- Successful prenatal diagnosis of partial trisomy 9p was achieved through ultrasound.
- Genetic investigation revealed the trisomy resulted from a maternal balanced translocation.
- This represents the first reported instance of ultrasound-based prenatal diagnosis for partial trisomy 9p.
Conclusions:
- Morphologic ultrasound can detect partial trisomy 9p.
- Maternal translocation is a significant cause of this condition.
- Given the generally poor prognosis, termination of pregnancy is frequently considered.