1/38. Clinical details, cytogenic studies,and cellular physiology of a 69, XXX fetus, with comments on the biological effect of triploidy in man.A triploid fetus, 69, XXX, aborted spontaneously at 26 weeks' gestation. It had multiple abnormalities including syndactyly of the hands and feet single palmar creases, hypoplasia of the adrenals and ovaries, hypertrophy of thigh muscles, and abnormalities of the brain. The placenta was large and showed hydatidiform degeneration. The pregnancy had been complicated by acute dyspnoea, pre-eclampsia, and postpartum haemorrhage. Detailed cytogenetic studies, using banding and fluorescence techniques, were performed on fetus and parents. Meiotic studies were made on the fetal ovaries. Muscle cell differentiation and electrophysiological relationships of cultured skin fibriblasts were examined in an attempt to study the way in which the extra haploid set of chromosomes exerts its effect on the phenotype. The antenatal diagnosis of late triploidy is discussed. The finding that 25 per cent of late triploids have spina bifida is further evidence that meningomyelocele has a genetic component and strongly suggests that this results from chromosomal imbalance or a regulatory gene disturbance.- - - - - - - - - - ranking = 1keywords = triploidy (Clic here for more details about this article) |
2/38. Digynic triploid infant surviving for 46 days.We report on a triploid infant who survived for 46 days. She had severe intrauterine growth retardation, relative macrocephaly, and a small, noncystic placenta, which are manifestations compatible with type II phenotype. Cultured amniotic fluid cells, skin fibroblasts, cord blood, and peripheral blood lymphocytes all showed a nonmosaic 69,XXX karyotype. Analysis of chromosomal heteromorphisms and microsatellite dna polymorphisms in the infant and her parents indicated that the extra haploid set in the infant resulted from nondisjunction at maternal second meiosis. Postzygotic, mitotic nondisjunction was ruled out because of the presence of both homozygous and heterozygous markers of maternal origin. A search of the literature demonstrated five triploid infants, including the girl we described, who survived 4 weeks or more, and the parental origin of whose triploidy was studied: four were digynic and one was diandric. These findings support the notion that type II triploids are digynic in parental origin and that they survive longer than type I, diandric triploids.- - - - - - - - - - ranking = 0.2keywords = triploidy (Clic here for more details about this article) |
3/38. Reversed diastolic umbilical artery flow in the first trimester associated with chromosomal fetal abnormalities or cardiac defects.BACKGROUND: Six cases have been reported of reversed end-diastolic umbilical artery (UA) blood flow at 10-14 weeks' gestation. Four were associated with chromosomal anomalies, and one showed congenital heart disease. CASES: This report describes two cases of reversed end-diastolic UA flow at 10 and 12 weeks' gestation with increased nuchal translucency in which cytogenetic analysis by chorionic villus sampling showed triploidy (69,XXX) and trisomy 9, respectively. In second case, the fetus had a ventricular septal defect. CONCLUSION: Reversed end-diastolic UA flow in the first trimester might be an important sign of chromosomal abnormalities in early pregnancy and might be a useful signal for the diagnosis of early cardiac defects.- - - - - - - - - - ranking = 0.2keywords = triploidy (Clic here for more details about this article) |
4/38. 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 = 0.8keywords = triploidy (Clic here for more details about this article) |
5/38. 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 = 0.2keywords = triploidy (Clic here for more details about this article) |
6/38. Triploid pregnancy detected incidentally by Down's syndrome screening.Maternal serum screening for Down's syndrome and trisomy 18 identifies pregnancies with a greater risk of these abnormalities, which are then followed-up by karyotyping of cells collected either by amniocentesis or by chorionic villus sampling. These techniques complement ultrasonography, which gives accurate gestational dating as well as identifying structural abnormalities. Other chromosomal abnormalities are sometimes detected by virtue of atypical maternal screening results. This report illustrates a case of triploidy, a lethal abnormality, detected incidentally due to an exceptionally high human chorionic gonadotrophin result identified during Down's syndrome screening. This allowed appropriate counselling of the parents followed by a decision to terminate the pregnancy, avoiding the potential trauma of a spontaneous miscarriage or, if born live, death of the baby. Termination of the pregnancy also resolved associated maternal hyperthyroidism.- - - - - - - - - - ranking = 0.2keywords = triploidy (Clic here for more details about this article) |
7/38. 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 = 1.6keywords = triploidy (Clic here for more details about this article) |
8/38. association between Breus' mole and partial hydatidiform mole: chance or can hydropic villi precipitate placental massive subchorionic thrombosis?Breus' mole (massive subchorionic hematoma) is a rare entity most often found in the placentae of macerated stillborn fetuses. Previously considered to represent a postmortem event, recent evidence suggests that it occurs prior to fetal demise. A 23-week gestation male neonate was delivered of a 23-year-old gravida 3, para 2 woman and survived for 49 min. An autopsy with chromosomal studies resulted in a diagnosis of triploidy. Placental examination showed the presence of both Breus' mole and also partial hydatidiform mole. dna samples extracted from portions of the fresh hematoma and from the fetal spleen were compared using molecular techniques. PCR analysis showed the presence of y chromosome specific dna in the placental clot, but a semiquantitative Southern blot demonstrated that roughly 85% of the clot dna was of maternal origin. These findings suggest that Breus' mole represents primarily maternal thrombosis rather than fetal hemorrhage. We hypothesize that the partial mole could have contributed to the formation of the Breus' mole as some of the hydropic villi may have focally obstructed the maternal venous return from the intervillus space causing sluggish flow and promoting thrombosis. A review of the literature on Breus' mole shows that the majority of reported cases have not included cytogenetic findings. However, several authors have reported an association with triploidy and other chromosomal anomalies characterized by scattered placental hydropic villi. Thus, we suggest that obstruction of maternal venous return by hydropic villi may have played a contributory role in some of these other reported cases.- - - - - - - - - - ranking = 0.4keywords = triploidy (Clic here for more details about this article) |
9/38. Rapid diagnosis of triploidy of maternal origin using fluorescent PCR and dna fragment analysis in the third trimester of pregnancy.OBJECTIVES: triploidy is a common cause of spontaneous abortion in the very early stages of pregnancy. It is very rare for a prenatal diagnostic center to discover triploidy in the third trimester of pregnancy. A pregnant woman in the third trimester was referred to our genetic counselling clinic because of abnormal ultrasound findings. We planned to test for the most common chromosomal abnormalities. methods: We performed ultrasound examination, chorionic villus sampling, karyotyping and fluorescent-polymerase chain reaction (F-PCR) and fragment analysis. RESULTS: We diagnosed a 69,XXX karyotype fetus in the 31st week of gestation, based on a short tandem repeat (STR) pattern typical for triploidy, which was confirmed by karyotyping. The comparison of the fetal and parental STR patterns showed maternal origin of the extra haploid chromosome set. CONCLUSIONS: STR analysis of fluorescent-PCR and dna fragment analysis is a rapid and reliable alternative to karyotyping for detection of certain aneuploidies. The method is also suitable for the determination of the origin of the extra chromosome set.- - - - - - - - - - ranking = 1.2keywords = triploidy (Clic here for more details about this article) |
10/38. Preimplantation genetic diagnosis for a couple with recurrent pregnancy loss and triploidy.BACKGROUND: triploidy may arise from fertilization of a mature haploid egg by two haploid sperm or by failure of meiotic divisions yielding a diploid gamete. We encountered a couple with habitual abortion, in which the last two fetuses were documented as viable triploid. methods: To avoid dispermic penetration and development of abnormal preembryos, insemination was done by intracytoplasmic sperm injection (ICSI) followed by fluorescence in situ hybridization (FISH) of biopsied blastomeres. RESULTS: Tests of the husband's spermatozoa by FISH, revealed that only 2-3% of the sperm were disomic for chromosomes 16, 13, 21, X, and Y. No triple disomy was detected among chromosomes 16, 13 and 21, which makes it very unlikely that triploidy resulted from diploid spermatozoa. Following a controlled ovulation induction protocol, low quality oocytes with immature cumuli were revealed. After ICSI, five eggs became two pronuclei (2PN) zygotes and none of the other eggs developed a 3PN zygote. FISH was performed on chromosomes 16 and 21 in four preembryos developed to a 6-8 cell stage. aneuploidy or mosaicism for each of these chromosomes was detected in one preembryo and later in two disaggregated blastocysts. FISH failed in one preembryo that became atretic after biopsy. CONCLUSIONS: Although this case was unsuccessful in achieving embryo transfer and normal pregnancy, we detected many abnormal morphological features in the oocytes and chromosomal abnormalities in the cleaving preembryos. This protocol can be proposed to patients with recurrent pregnancy loss associated with chromosomal abnormalities in the fetus.- - - - - - - - - - ranking = 1keywords = triploidy (Clic here for more details about this article) |
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