AI Article Synopsis
- Triploidy is a genetic anomaly characterized by an extra set of chromosomes (3n = 69), usually resulting in nonviable pregnancies, accounting for about 1% of recognized conceptions and 10% of miscarriages.
- The study presents a case of a triploid miscarriage in a 32-year-old woman, where the fetus had two copies of maternal chromosomes, which is rare since most cases involve two copies from the father.
- The research includes detailed analyses through chromosomal testing and discusses related topics like recurrent miscarriages and the long-term health of the patient.
Article Abstract
Triploidy is a genetic occurrence in which the chromosome count is 3n = 69 with a double (2n) chromosomal contribution to the conceptus from one parent. Such pregnancies are usually nonviable and are estimated to account for approximately 1% of recognized conceptions and 10% of recognized miscarriages. Majority opinion is that fetal losses due to triploidies are caused by the presence of 2 copies of paternal chromosomes. In this study, we present a digynic monoandric triploid miscarriage from a 32-year-old G7P1051 at approximately 13 weeks gestation, in which 2 copies of the maternal chromosomes are present in the fetus. This unusual phenomenon is supported by nonmolar placental histology, chromosomal microarray, and short tandem repeat assays, with the latter 2 being discussed in detail. Furthermore, this study includes discussion of recurrent miscarriage, recurrent triploidy, and long-term clinical follow-up of the patient.
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| http://dx.doi.org/10.1093/labmed/lmad036 | DOI Listing |
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