Journal
SAGE OPEN MEDICAL CASE REPORTS
Volume 9, Issue -, Pages -Publisher
SAGE PUBLICATIONS INC
DOI: 10.1177/2050313X21991000
Keywords
Cystic hygroma; prenatal diagnosis; partial trisomy 22
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Funding
- Ratchadaphiseksomphot Endowment Fund, Chulalongkorn University
- Placental Related Diseases Research Unit, Chulalongkorn University
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Partial trisomy 22 is a rare condition that is often associated with structural abnormalities, which can be confirmed through prenatal genetic diagnosis. It is recommended that pregnant women with fetal anomalies undergo prenatal genetic testing to determine the presence of partial trisomy 22 or other rare chromosomal abnormalities.
Partial trisomy 22 is a rare condition that is found in live birth. In most cases, diagnosis of partial trisomy 22 was made after birth. Herein, we report a prenatal diagnosis of fetal partial trisomy 22 in a 28-year-old pregnant woman presented with fetal cystic hygroma. Structural abnormalities were detected at 16 weeks of gestation: left cleft lip and ventricular septal defect. The G-banding karyotype analysis and fluorescence in situ hybridization showed partial trisomy 22. It is recommended that pregnant women with fetal anomalies should have prenatal genetic diagnosis to ascertain whether the fetus has partial trisomy 22 or other rare chromosomal abnormalities.
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