Prenatal diagnosis of a fetus with distal 10q trisomy

✍ Scribed by Chih-Ping Chen; Jin-Chung Shih; Chen-Chi Lee; Li-Feng Chen; Wayseen Wang; Tao-Yeuan Wang

• Publisher: John Wiley and Sons
• Year: 1999
• Tongue: English
• Weight: 143 KB
• Volume: 19
• Category: Article
• ISSN: 0197-3851
• DOI: 10.1002/(sici)1097-0223(199909)19:9<876::aid-pd651>3.0.co;2-8

✦ Synopsis

Distal 10q trisomy is a well-defined but rare syndrome. Most cases are diagnosed in infancy or in childhood and rarely include prenatal findings. We present a case of fetal distal 10q trisomy with abnormal prenatal sonographic findings. A 19-year-old primigravida was referred for genetic counselling at 18 gestational weeks because her husband had a familial history of congenital anomalies. Genetic amniocentesis was thus performed and showed fetal distal 10q trisomy (10q24.1<qter), 46,XX,der(22)t(10;22)(q24.1;p11.2)pat, resulting from paternal t(10;22) reciprocal translocation. Level II ultrasonograms further demonstrated bilateral hydronephrosis, ventricular septal defect and facial dysmorphism ascertained by three-dimensional ultrasound. The pregnancy was terminated at 22 gestational weeks. Post-mortem autopsy confirmed the sonographic findings. We suggest that abnormal prenatal sonographic findings such as cardio-vascular, renal and facial malformations should alert cytogeneticists to search for subtle chromosomal abnormalities.