1/13. First-trimester non-invasive prenatal diagnosis of triploidy.We report a case of fetal triploidy in which fetal nucleated red blood cells were isolated from the maternal peripheral circulation at 12 weeks' gestation. FISH analysis with X and Y specific probes revealed three hybridization signals for the X chromosomes in 14 cells. The karyotype as established after CVS was shown to be 69,XXX. Two other non-invasive first-trimester screening methods were also evaluated. The serum markers pregnancy-associated plasma protein A (PAPP-A) and the free beta-chain of chorionic gonadotrophin (free beta-hCG) were both shown to be decreased in the same blood sample. An enlarged nuchal translucency (5 mm > or =95th centile) was seen at 13 2 weeks of gestation.- - - - - - - - - - ranking = 1keywords = triploidy (Clic here for more details about this article) |
2/13. First-trimester ultrasound diagnosis of holoprosencephaly: three case reports.We present three cases of fetal holoprosencephaly diagnosed by transabdominal and transvaginal ultrasound examinations at 10 and 13 weeks' gestation. The diagnosis was based on two sonographic criteria: first, the intracranial finding of a single ventricle with a cerebral mantle and no visible midline structures but fusion of the thalami and corpus striatum; and, second, facial abnormalities, including hypotelorism. The ultrasound findings were confirmed by embryoscopy before abortion in one case and by pathological examination after abortion in two cases. Chromosome study of the three fetuses showed trisomy 18, triploidy and mosaic 18p deletion and duplication.- - - - - - - - - - ranking = 0.2keywords = triploidy (Clic here for more details about this article) |
3/13. Preeclampsia and fetal triploidy: a rarely reported association in nephrologic literature.We report a case of a healthy woman - whose previous pregnancy was uncomplicated - with early onset of hypertension, proteinuria and edema, during her second pregnancy. Ultrasound examination at 19th week of amenor rhea showed a fetus with growth retardation, corresponding to 17 weeks' gestation, ascites, cardiomegaly with serious multiple congenital anomalies. amniocentesis for fetal karyotyping revealed 69, XXX. Because of continued elevated blood pressure, increasing proteinuria and severe lethal fetal anomalies, interruption of pregnancy was suggested. It was subsequently carried out by surgery. The patient underwent renal biopsy 10 days post-partum: histology showed the presence of the characteristic pathologic renal changes of preeclampsia. A year later, she became pregnant by the same partner. The third pregnancy was uneventful. The combination of fetal triploidy and preeclampsia may suggest a causative relationship. Clinically, most cases manifest as severe early-onset preeclampsia and must be differentiated from essential hypertension and a chronic glomerulonephritis (GN), which becomes symptomatic during pregnancy. When a fetus has triploidy, the counseling should stress the high incidence of preeclampsia; particularly when fetal anomaly is not compatible with life, it is well known that delivery of the fetus is curative in this syndrome. This information is important in counseling patients who are hesitant to terminate the pregnancy purely for a fetal abnormality, even if lethal.- - - - - - - - - - ranking = 1.2keywords = triploidy (Clic here for more details about this article) |
4/13. 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) |
5/13. Placental mesenchymal dysplasia associated with fetal aneuploidy.OBJECTIVES: To describe three cases of placental mesenchymal dysplasia (PMD) associated with abnormal karyotype and review the cases reported in the literature. methods: The cases were retrieved from the files of three different institutions. A search of the English language literature was performed using medline database. RESULTS: Placental abnormalities suggestive of molar changes were seen on the prenatal ultrasound scans. Histologically, the cases had large, hydropic stem villi with myxomatous stroma, cistern formation and 'chorangiomatoid' changes. The placental and fetal karyotypes identified were trisomy 13 (47,XX,t(1:13)(q32;q32) 13); klinefelter syndrome (47,XXY) and triploidy (69,XXX). Including these 3 cases, of 66 reported cases, 51 (78%) were female and 14 (22%) male (ratio 3.6:1); the karyotype was normal in 32/36 (89%) and abnormal in 4/36 (11%); beckwith-wiedemann syndrome was confirmed or suspected in 15/66 (23%). Excluding termination of pregnancies, intrauterine death occurred in 18/54 (33%) cases. CONCLUSION: molar ultrasonographic appearances associated with increased maternal serum alpha-fetoprotein but normal, or slightly elevated, levels of ss human Chorionic Gonadotrophin should raise the clinical suspicion of PMD. The diagnosis of this condition should not be disregarded when an abnormal fetus and/or an abnormal karyotype are demonstrated.- - - - - - - - - - ranking = 0.2keywords = triploidy (Clic here for more details about this article) |
6/13. Marked abnormal quadruple screen in a patient with severe preeclampsia at 20 weeks with a triploid fetus.Severe preeclampsia rarely occurs prior to 20 weeks of gestation except in pregnancies with triploidy. The patient reported herein is a 29-year-old primigravida who developed severe preeclampsia at 20 weeks of gestation. Evaluation of the pregnancy demonstrated a markedly abnormal quadruple screen. amniocentesis demonstrated a fetus with triploidy, despite a normal appearance.- - - - - - - - - - ranking = 0.4keywords = triploidy (Clic here for more details about this article) |
7/13. Triploid fetus: an important consideration in the evaluation of very high maternal serum alpha-fetoprotein.Two patients referred for evaluation of very high maternal serum alpha-fetoprotein (10-20 multiples of the median) were carrying triploid fetuses with placentas showing features of partial hydatidiform mole. The diagnosis of fetal triploidy should be considered when there is a very high maternal serum alpha-fetoprotein and no ultrasound evidence of open neural tube defect, ventral wall defect, or any other explanation. Therefore, chromosomal analysis of amniotic fluid cells in such cases is essential.- - - - - - - - - - ranking = 0.2keywords = triploidy (Clic here for more details about this article) |
8/13. Placental changes in fetal triploidy syndrome.The sonographic findings in fetal triploidy syndrome include intrauterine growth retardation, hydrocephalus, oligohydramnios, and hydropic changes of the placenta. ultrasonography can establish the diagnosis only when placental findings coexist with a fetus. Although the majority of triploid conceptions abort spontaneously in the first trimester, occasionally they will progress further, but rarely to term. Six cases are presented in which the diagnosis was suspected by early ultrasound examinations, including one case in which there was an unusually large trophoblastic cyst. Determination of the karyotype is important for the management of a pregnancy with a live fetus, and has implications for genetic counseling of subsequent pregnancies.- - - - - - - - - - ranking = 1keywords = triploidy (Clic here for more details about this article) |
9/13. 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 = 1.2keywords = triploidy (Clic here for more details about this article) |
10/13. Early-onset preeclampsia, triploidy and fetal hydrops.Early-onset preeclampsia (16-24 weeks) is frequently associated with fetal and placental anomalies. hydatidiform mole, fetoplacental triploidy with partial molar changes and idiopathic hydrops fetalis are commonly associated ones. Two patients had severe, early-onset preeclampsia and ultrasonically documented fetal anomalies, one fetal triploidy, the other idiopathic hydrops with normal karyotype. The management of early-onset preeclampsia benefits from ultrasonography, and an aggressive search for fetal anomalies is recommended. Seventy-two percent of cases of early-onset preeclampsia in our institution were associated with significant fetal and placental malformations. An immunologic basis of the preeclampsia in these cases seems likely but remains unproven.- - - - - - - - - - ranking = 1.2keywords = triploidy (Clic here for more details about this article) |
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