Mixoploidy: perinatal diagnosis and pregnancy outcome.
Mixoploidy is rare chromosomal disorder characterized by multiple cell lines, usually including triploidy, within tissues. Pregnancy outcome has generally been considered poor with congenital anomalies and developmental delay reported in postnatally diagnosed cases. We report on two cases of abnormal midtrimester ultrasound showing placental abnormalities. Karyotype assessment showed mixoploidy, and both cases had satisfactory pregnancy outcome.
Division of Maternal Fetal Medicine, New York University Medical Center, New York, NY 11366, USA. Ashwin.Jadhav@nyumc.org
Ashwin R
AR
Jadhav
Gary A
GA
Dildy
Michael A
MA
Belfort
Yves
Y
Lacassie
John C
JC
Carey
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology / Q000628:therapy; D000328:Adult; D000782:Aneuploidy; D025063:Chromosome Disorders / Q000175:diagnosis* / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D009928:Organ Specificity; D010922:Placenta Diseases / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D011247:Pregnancy; D011256:Pregnancy Outcome / Q000235:genetics; D011262:Pregnancy Trimester, Second / Q000502:physiology; D011296:Prenatal Diagnosis