1/9. An unusual case of trisomy and triploidy in a chorion villus biopsy.A case is reported of a 35-year-old woman who underwent a chorion villus biopsy (CVB) at 17 weeks' gestation after intrauterine growth retardation and oligohydramnios were diagnosed by ultrasound scan. Chromosome analysis of the CVB direct preparations showed a 47,XX, 6 karyotype in all cells. The pregnancy was terminated and subsequent analysis of cultured cells from both the CVB and the post-mortem placenta showed three cell lines: 46,XX, 47,XX, 6 and 69,XXX, while fetal skin and muscle were entirely 69,XXX. An explanation is proposed for the origin and distribution of the three cell lines.- - - - - - - - - - ranking = 1keywords = triploidy (Clic here for more details about this article) |
2/9. phenotype II triploid pregnancy and study of the parental origin of the extra set of chromosomes with fluorescence microsatellite analysis: case report.triploidy can reflect diandry (dispermy or diploid sperm) or digyny(diploid ovum). The former is likely to result in the type I phenotype with a partial mole with an appropriate-for-gestational age fetus rarely surviving beyond 20 weeks and a large, cystic placenta. The latter, however, is characterized by a type II phenotype with severe intrauterine growth retardation (IUGR) with longer in utero survival and a small, non-molar placenta. We report on a 22-year-old woman, gravida 2, para1, in the 31st week of gestation who was referred to our prenatal clinic for evaluation of severe IUGR and oligohydramnios. Late cytogenetic karyotyping from cordocentesis revealed a triploidy of 69, XXX. In the 33rd week of gestation, the mother went through spontaneous labor delivering an IUGR 1180 gm fetus and a small, non-molar placenta. The fetus died immediately and was sent for autopsy. In addition to cleft lip and palate, the infant had pulmonary lobation abnormalities. fluorescence microsatellite analysis of fetal and parental samples confirmed that the extra set of chromosomes present in the proband was a result of a maternal meiosis I nondisjunction error. This may help study of genomic imprinting on human development.- - - - - - - - - - ranking = 0.25keywords = triploidy (Clic here for more details about this article) |
3/9. A case of partial mole and atypical type I triploidy associated with severe hellp syndrome at 18 weeks' gestation.Partial mole is a rare complication of pregnancy and 90% of cases are associated with triploidy. hellp syndrome is also a rare and life-threatening condition that occurs after 20 weeks' gestation. We report a case presenting with a combination of severe hellp syndrome, partial mole, triploidy type I and fetal growth restriction at 18 weeks' gestation. Partial mole and any type of triploidy must be considered in cases of hydrocephalus and severe growth restriction in the second trimester of pregnancy. Our case highlights the fact that growth restriction can be associated with type I triploidy and that severe hellp syndrome can develop in such cases even before 20 weeks' gestation.- - - - - - - - - - ranking = 2keywords = triploidy (Clic here for more details about this article) |
4/9. trisomy 16 confined to the placenta.Two cases with trisomy 16 confined to the placenta are presented. prenatal diagnosis was indicated because of fetal growth retardation. In case 1, a phenotypically normal but small-for-date boy was born. In case 2, the fetus turned out to be triploid on cordocentesis. In both instances the trisomy 16 was recovered from the placenta. Recovery indicates that the abnormality was present in the placenta during the time of fetal growth retardation, which supports an aetiological relationship. Strict appliance of the current models cannot readily explain the observed discrepancies. In case 2, a chimeric placenta as a result of a vanishing twin is assumed. Cases of placental trisomy 16 published after 1988 are reviewed. It is concluded that confined placental trisomy 16 can cause intrauterine growth retardation if present in both the direct preparation and the villus culture. The chances of finding a chromosomally abnormal fetus (mosaic trisomy 16, triploidy) after diagnosis of trisomy 16 in chorionic villi are low but warrant further investigations.- - - - - - - - - - ranking = 0.25keywords = triploidy (Clic here for more details about this article) |
5/9. triploidy in a growth discordant twin pregnancy after intracytoplasmic sperm injection treatment. Case report.OBJECTIVE: We report on a case of a triploidy in one fetus of a twin pregnancy who presented with the findings of growth discordance. methods: Three weeks' difference between fetuses in ultrasonographic measurements in the first trimester was observed in a twin pregnancy following intracytoplasmic sperm injection (ICSI) treatment for male infertility. Hydrocephaly developed in the growth-discordant fetus subsequently. amniocentesis for both fetuses and selective feticide for the abnormal one was performed at 19 weeks' gestation through a single insertion. Fetal karyotype of the abnormal one was 69,XXX and the healthy one was 46,XX. CONCLUSION: Early developed growth discordance in a twin pregnancy may be a sign of chromosomal abnormality such as triploidy. Those cases should be karyotyped without delay to decrease preterm delivery risk of possible selective feticide.- - - - - - - - - - ranking = 0.5keywords = triploidy (Clic here for more details about this article) |
6/9. 69,XXX karyotype in a malformed liveborn female. Maternal origin of triploidy.A liveborn female with a 69,XXX karyotype and clinical features of triploidy syndrome is reported. Main phenotypical features are: intrauterine growth retardation, hypotonicity, micrognathism, low-set ears, ocular anomalies, syndactyly and atrophy of the cerebral cortex and corpus callosum. Study of chromosomal heteromorphisms revealed that triploidy might have arisen through fertilization of a diploid ovum by a haploid sperm (diginy).- - - - - - - - - - ranking = 1.5keywords = triploidy (Clic here for more details about this article) |
7/9. Antenatal ultrasound findings in fetal triploidy syndrome.Although commonly encountered in spontaneous abortions, triploidy is rarely seen in fetuses surviving beyond mid-pregnancy. Mid-trimester sonographic findings in three triploid fetuses are described and compared with those reported in six prior cases. While sonographic characteristics are variable, common features include: 1) second trimester-onset fetal growth retardation with a reduced growth potential pattern of anthropometric growth, 2) body asymmetry with relative macrocephaly and an elevated head:abdominal circumference ratio, 3) hydrocephalus, 4) oligohydramnios, and 5) an abnormally large and/or hydropic placenta (in cases of paternal origin). Genetic amniocentesis and amniotic fluid chromosome studies should be performed when ultrasound findings suggestive of fetal triploidy are identified.- - - - - - - - - - ranking = 1.5keywords = triploidy (Clic here for more details about this article) |
8/9. fluorescence in situ hybridisation on formalin fixed fetal tissue in the diagnosis of chromosomal syndromes.Two cases of stillborn children with multiple congenital anomalies are presented. No routine karyotyping was performed. After dysmorphologic evaluation a tentative diagnosis of trisomy 18 and triploidy, respectively, could be made. fluorescence in situ hybridisation with several chromosome specific probes on formalin fixed paraffin embedded tissue confirmed the suspected diagnosis in both cases. In view of the important consequences for the parents (relatively low recurrence risk, availability of prenatal diagnosis in subsequent pregnancies) fluorescence in situ hybridisation for the common chromosomal aneuploidies should be performed in selected cases of stillborn fetuses with multiple congenital malformations.- - - - - - - - - - ranking = 0.25keywords = triploidy (Clic here for more details about this article) |
9/9. A non-trophoblastic tumor co-existing with a triploid fetus.Non-trophoblastic neoplasms are the most frequent, benign tumors of the placenta, occurring in approximately 1% of all placentas examined. A case is described of a 24-year-old woman who presented with severe, early-onset pre-eclampsia, high human chorionic gonadotropin (hCG) levels, and a triploid fetus and who was found to have a small choriohemangioma. The woman, gravida 2 para 1, was referred to our hospital for perinatal evaluation. The fetus, gestational age 18 weeks 3 days, had fetal growth restriction with multiple congenital anomalies. The fetal karyotype was 69,XXY. Compared with the normal range for this gestational age, the beta-hCG level was significantly elevated (1,054,000 mIU/ml) as was the maternal serum alpha-feto-protein measurement (539.1 ng/ml). Sonographically, the placenta appeared hydropic, irregularly shaped, and gelatinous. A suction dilatation and evacuation under sonographic guidance was performed. Histological examination of placental tissue revealed hydropic degeneration of the chorionic villi. The specific histological features of a partial molar pregnancy were not present. However, there were changes consistent with a choriohemangioma. Flow cytometric dna analysis performed on formalin-fixed, paraffin-embedded tissue blocks of placenta showed triploidy. Immunohistochemical staining with human placental alkaline phosphatase was consistent with a hydropic degeneration pattern. We conclude, first, that triploidy does not always imply the presence of a partial mole. Second, the dictum, that pre-eclampsia, if it occurs under 20 weeks' gestation, must be associated with a molar pregnancy, may not hold when placental aneuploidy is present. Although the findings in this pregnancy could have been incidental, there may be an association between a choriohemangioma and polyploidy.- - - - - - - - - - ranking = 0.5keywords = triploidy (Clic here for more details about this article) |