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Chromosome Abnormalities in Human Pregnancy Loss
Published in Carlos Simón, Carmen Rubio, Handbook of Genetic Diagnostic Technologies in Reproductive Medicine, 2022
Unlike most other numerical abnormalities, the parental origin of triploidy has a profound effect on phenotype. Specifically, diandric triploids typically abort between 10 to 20 weeks of gestation, with limited development of fetal structures but good development of the extra-embryonic membranes and villi [67]; indeed, diandric triploids are frequently diagnosed as partial hydatidiform moles histologically based on villus structures and as demonstrated in Figure 28.4c and d (for discussion of moles, see [68]). In contrast, there appear to be two general categories of maternally derived triploids. The more common category aborts very early in pregnancy but a subset of cases is associated with good fetal development and with abortion late in gestation; indeed, the extremely small proportion of cases of triploidy that survive to term are thought to be maternal in origin. Thus, triploidy provides an important example of the existence of imprinted loci, although the phenotypic contribution of the specific loci is not known.
Causes and risk factors
Published in Janetta Bensouilah, Pregnancy Loss, 2021
When an embryo contains an extra set of chromosomes, this is called a triploidy. It may result from the egg being fertilised by more than one sperm; maternal age is not a factor here. Some will miscarry very early, whereas others progress and are accompanied by placental abnormalities and do not survive to birth. A partial hydatidiform mole is an example of a triploidy. It contains an embryo or fetus with three sets of chromosomes.
Paper 4
Published in Amanda Rabone, Benedict Thomson, Nicky Dineen, Vincent Helyar, Aidan Shaw, The Final FRCR, 2020
Amanda Rabone, Benedict Thomson, Nicky Dineen, Vincent Helyar, Aidan Shaw
Monosomy X is Turner syndrome. Chest radiograph may demonstrate thinning of the lateral aspect of the clavicles as well thinned and narrow ribs with pseudo notching. Triploidy is the third commonest fatal chromosomal anomaly, with most associated with spontaneous abortions. Trisomy 13 is Patau syndrome. Most infants do not live more than a few days. Trisomy 18 is Edwards syndrome. The mean infant survival in this condition is 48 days.
Reproductive outcomes in couples with sporadic miscarriage after embryonic chromosomal microarray analysis
Published in Annals of Medicine, 2023
Zhengyi Xia, Ran Zhou, Yiming Li, Lulu Meng, Mingtao Huang, Jianxin Tan, Fengchang Qiao, Hui Zhu, Ping Hu, Qiaoying Zhu, Zhengfeng Xu, Yan Wang
Numerical chromosomal abnormalities were the most frequent abnormal finding, including 542 (48.0%) with aneuploidies and 87 (7.7%) with polyploidies. Among the cases with aneuploidies, 95.4% (517/542) of these cases were identified as single aneuploidies, and multiple aneuploidies composed the remaining 4.6% (25/542). With the exception of chromosomes 1 and 19, single aneuploidies were detected in all chromosomes. Trisomies represented the majority among the cases with single aneuploidies (420/517, 81.2%), and others were monosomies (97/517, 18.8%). With respect to trisomies, trisomy 16 was the most common (142/420, 33.8%), followed by trisomy 22 (64/420, 15.2%) and trisomy 21 (28/420, 6.7%). Monosomies were observed in chromosomes X (95/97, 97.9%), 8 (1/97, 1.0%) and 21 (1/97, 1.0%). Among the cases with polyploidies, 85 (97.7%) were triploidy and two (2.3%) were tetraploidy. In addition, four cases (0.4%) with whole-genome UPD were identified in our cohort.
Thiol/Disulfide Homeostasis in Patients with Molar Pregnancies
Published in Fetal and Pediatric Pathology, 2020
Meryem Kuru Pekcan, Aytekin Tokmak, Nazli Topfedaisi Ozkan, Gulnur Ozaksit, Arzu Kosem, Ozcan Erel, Mutlu Meydanli
PHM and CHM are identified through histopathologic examination of molar tissue, presence or absence of fetal or embryonic tissue, as well as genetic studies. It is well known that all chromosomes in CHM are diploid (46 XX/46 XY) and paternal in origin. Similarly, in PHM, the extra sets of chromosomes are generally paternal in origin and triploidy is present (69XXY/69XYY/69XXX) [2]. Although the genetic basis of the disease is well known, there may be also environmental factors that disturb the oocyte and/or sperm structurally or functionally, such as OS. Perhaps the imbalance between the oxidant/antioxidant defense systems during the pre-pregnancy period may potentiate the development of molar pregnancies by disrupting the physiologic mechanisms that occur during the fertilization and post-fertilization periods.
Is the presence of corpus callosum predictable in the first trimester?
Published in Journal of Obstetrics and Gynaecology, 2018
Hakan Kalaycı, Ebru Tarım, Halis Özdemir, Tayfun Çok, Ayşe Parlakgümüş
This is the first study to include PCA screening as well as MB and F measurements. Pati et al. (2012) visualised PCAs at gestational weeks 12–20 in 71 patients. They measured the length of the PCAs and found a correlation with gestational week. In addition, the presence of the CC was confirmed by ultrasonography after gestational week 22. Díaz-Guerrero et al. (2013) searched 150 patient records for PCAs and detected the PCA path in 97.2% of their patients (144/150), which agreed with our study results (98%). Two of 150 patients had abnormal PCA paths with confirmation of ACC in the second trimester. Two other foetuses had triploidy, and a third had trisomy 13. In contrast, in our study, two patients with normal PCA paths had trisomy 13, and the other had trisomy 21.