Jennifer L Czerwinski and Manju Monga
Background: Mosaic triploidy is uncommon in a liveborn. There have been no previous reports of prenatally diagnosed diploid/triploid mosaicism by amniocentesis. We present a case of prenatally diagnosed diploid/triploid mosaicism. Case: A 26 year old G3P1 presented for ultrasound at 21 weeks 5 days following a positive quad screen. Asymmetrical growth restriction, abnormal hand positioning and suspected heart defect were noted. Amniocentesis revealed mosaic triploidy; 69, XXX (10)/46, XX (6). Infant was delivered at 37 weeks by repeat cesarean section. Neonatal cord blood karyotype confirmed mosaic triploidy; 69, XXX (2)/46, XX (18). Conclusion: Prenatal diagnosis and subsequent outcome of a liveborn mosaic diploid/triploid infant has not been previously described. Our case demonstrates that diploid/triploid mosaicism may be diagnosed by amniocentesis and that the pregnancy may be managed to live birth near term.
इस लेख का हिस्सा
English 
Spanish 
Chinese 
Russian 
German 
French 
Japanese 
Portuguese 
Telugu 