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    ABSTRACT: To analyze the results of prenatal findings and the outcome of triploidy and to organize an efficient approach to prenatal diagnosis during the second trimester. We reviewed 70 cases of triploidy presenting between 13 and 29 weeks' gestation over a 10-year period. Each fetus had at least one measurement below the normal range, and 50 cases (71.4%) presented with asymmetrical growth restriction and normal placental appearance. All cases of triploidy associated with partial mole were diagnosed before 25 weeks. Structural fetal defects were observed antenatally in 65 (92.9%) cases. The most common defects were abnormalities of the hands (52.3%), bilateral cerebral ventriculomegaly (36.9%), heart anomalies (33.8%), and micrognathia (26.2%). The most frequent combination of abnormalities was malformation of the hands and ventriculomegaly. Decreased red blood cell counts and high mean cell volume were found in the 50 cases tested. Vaginal bleeding in the first or second trimester was the most common maternal symptom reported. The major features that should alert the sonographer to the possible diagnosis of triploidy are partial molar changes or severe asymmetrical fetal growth restriction in the presence of an apparently normal placenta.
    Obstetrics and Gynecology 01/1997; 88(6):983-9. · 4.80 Impact Factor
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    ABSTRACT: Triploidy is a common finding both in early spontaneous abortions and in the fetal period. Previous studies suggested that the majority of triploidy was the result of diandry, specifically dispermy. Molecular determination of parental origin in fetal triploids has shown that digyny accounts for the majority of triploids in the fetal period. The aim of this study was to determine the meiotic level at which the error leading to digynic triploidy occurs and to extend the molecular analysis of parental origin of triploidy into the embryonic period. Maternal age of digynic triploids was compared with that of the diandric cases. Using polymorphic pericentromeric markers, we have shown that the majority of digynic triploidy is the result of errors in the second meiotic division. Digyny accounted for the majority of triploids, even in the nonfetal cases. Diandry predominated in a subset of the non-fetal cases in which embryos were not present and in which the placental findings of partial hydatidiform mole (PHM) were encountered. Maternal age differed between the digynic and diandric groups only for the non-fetal cases; this was attributed to differences in ascertainment.
    Clinical Genetics 10/2000; 58(3):192-200. · 3.94 Impact Factor
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    ABSTRACT: In 25 cases of triploidy at 10-14 weeks of gestation, compared with 947 controls, the median multiple of the median (MoM) fetal nuchal translucency (NT) thickness was significantly increased (1.89 MoM), and maternal serum total and free beta-human chorionic gonadotrophin (hCG) were increased (3.13 MoM and 4.59 MoM respectively), alpha fetoprotein (AFP) was increased (2.14 MoM), and pregnancy associated plasma protein A (PAPP-A) was decreased (0.12 MoM). There are two types of triploidy. In type I, where the additional chromosome set is of paternal origin, the placenta is partially molar and the fetus is relatively well-grown. Type II, where the extra chromosome set is of maternal origin, is characterized by a small normal looking placenta and severe asymmetrical fetal growth restriction. In type I triploidy there was increased fetal NT (2.76 MoM), maternal serum total hCG (4.91 MoM), free beta-hCG (8.04 MoM), and AFP (3.22 MoM), and mildly decreased PAPP-A (0.75 MoM). In type II triploidy fetal NT was not increased (0.88 MoM), and there was a decrease in maternal serum total hCG (0.16 MoM), free beta-hCG (0.18 MoM), PAPP-A (0.06 MoM) and AFP (0.77 MoM). We conclude that a large proportion of triploidy cases of both phenotypes could be identified in the first trimester using NT, maternal serum free beta-hCG and PAPP-A with a combination of trisomy 21 risk and an atypicality approach.
    Prenatal Diagnosis 07/2000; 20(6):495-9. · 2.68 Impact Factor

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