Coagulation and fibrinolysis in intact hydatidiform molar pregnancy. (1/227)

Tests of coagulation, fibrinolysis, and platelet function were performed in 17 patients with intact molar pregnancies. Women with intact molar pregnancies had higher fibrinogen factor VIII, and fibrinogen degradation products, concentrations and lower prothrombin, factor X, plasminogen, and plasminogen activator concentrations than controls with normal pregnancies. They also had reduced platelet counts and thromboelastographic values, which indicated hypocoagulability. These results suggest that intravascular coagulation occurs in intact hydatidiform molar pregnancies.  (+info)

Genetic mapping of a maternal locus responsible for familial hydatidiform moles. (2/227)

Hydatidiform mole (HM) is the product of an aberrant human pregnancy in which there is an abnormal embryonic development and proliferation of placental villi. The incidence of HM varies between ethnic groups, and occurs in 1 in every 1500 pregnancies in the USA. All HM cases are sporadic, except for extremely rare familial cases. The exact mechanisms leading to molar pregnancies are unknown. We previously postulated that women with recurrent hydatidiform moles are homozygous for an autosomal recessive defective gene. To map this gene genetically, we initiated a genome-wide scan with highly polymorphic short tandem repeats in individuals from two families with recurrent HM. Here, we demonstrate that a defective maternal gene is responsible for recurrent HM. This gene resides on chromosome 19q13.3-13.4 in a 15.2 cM interval flanked by D19S924 and D19S890. The identification of a gene for HM adds new insights into the molecular genetics of early embryogenesis and may be relevant to the large number of patients with sporadic HM.  (+info)

Delivery of a severely anaemic fetus after partial molar pregnancy: clinical and ultrasonographic findings. (3/227)

The incidence of a normal live fetus and a partial molar placenta is extremely rare. Although triploidy is the most frequent association, a fetus with normal karyotype can survive in cases of partial molar pregnancy. We report a case of partial molar placenta in which a live female baby was delivered at 32 weeks gestation by a 30-year-old woman. At the 18th week, ultrasonographic examination revealed a normal fetus with a huge, multicystic placenta. Chromosomal evaluation by amniocentesis revealed a normal female karyotype (46,XX), and serial biometric measurement of the fetus showed normal growth during pregnancy. There were no obstetric complications until the 32nd gestational week when preterm rupture of the membranes occurred. The electronic fetal heart beat tracing showed a repeated sinusoid pattern and late deceleration after admission. The patient underwent emergency Caesarean section and delivered a 1551-g, anaemic female baby with an Apgar score of 1, 4 and 6 at 1, 5 and 10 min, respectively. The baby recovered within 2 weeks after respiratory support and transfusion of packed red blood cells. Although anaemia is one of the risk factors that jeopardize the fetus in the case of partial molar pregnancy, termination is not indicated when the fetus is normal and no complications have occurred.  (+info)

The contribution of maternal serum markers in the early prenatal diagnosis of molar pregnancies. (4/227)

The aim of this study was to evaluate the usefulness of maternal serum markers in the early prenatal diagnosis of molar pregnancies. The ultrasound features, cytogenetic and histopathological findings of 10 cases of molar pregnancy diagnosed at 11-13 weeks of gestation were compared retrospectively with the maternal serum concentrations of human chorionic gonadotrophin (HCG), alpha fetoprotein (AFP), pregnancy-associated plasma protein A (PAPP-A) and pregnancy-specific beta1-glycoprotein (SP1). Free beta-HCG and intact HCG concentrations were very high [> or = 2.5 multiples of the median (MoM)] in all cases. AFP concentrations were extremely low in all cases of singleton complete moles (< or = 0.5 MoM) and were high in one case of twin complete mole, in one case of triploid partial mole and two cases of euploid partial mole (> or = 2.5 MoM). Serum PAPP-A and SP1 were high in complete moles. The combined use of ultrasound features, maternal serum proteins and fetal cytogenetic findings should enable the early differential diagnosis in utero and perinatal management of those molar pregnancies presenting with an anatomically normal fetus.  (+info)

Efficient approach to unique single-nucleotide polymorphism discovery. (5/227)

Single-nucleotide polymorphisms (SNPs) are the most frequently found DNA sequence variations in the human genome. It has been argued that a dense set of SNP markers can be used to identify genetic factors associated with complex disease traits. Because all high-throughput genotyping methods require precise sequence knowledge of the SNPs, any SNP discovery approach must involve both the determination of DNA sequence and allele frequencies. Furthermore, high-throughput genotyping also requires a genomic DNA amplification step, making it necessary to develop sequence-tagged sites (STSs) that amplify only the DNA fragment containing the SNP and nothing else from the rest of the genome. In this report, we demonstrate the utility of a SNP-screening approach that yields the DNA sequence and allele frequency information while screening out duplications with minimal cost and effort. Our approach is based on the use of a homozygous complete hydatidiform mole (CHM) as the reference. With this homozygous reference, one can identify and estimate the allele frequencies of common SNPs with a pooled DNA-sequencing approach (rather than having to sequence numerous individuals as is commonly done). More importantly, the CHM reference is preferable to a single individual reference because it reveals readily any duplicated regions of the genome amplified by the PCR assay before the duplicated sequences are found in GenBank. This approach reduces the cost of SNP discovery by 60% and eliminates the costly development of SNP markers that cannot be amplified uniquely from the genome.  (+info)

DNA flow cytometric quantification and DNA polymorphism analysis in the case of a complete mole with a coexisting fetus. (6/227)

PURPOSE: Our purpose was to investigate whether DNA flow cytometric quantification and DNA polymorphism analysis are useful for cytogenetic diagnosis in the case of a complete hydatidiform mole that coexists with a living fetus. METHODS: Flow cytometric analysis of the nuclear DNA content and polymerase chain reaction (PCR) amplification of the minisatellite locus with the MCT118 probe were performed on the tissues (fetus, placenta and mole) obtained at the initial evacuation. RESULTS: DNA histograms of placental, fetal, and molar tissues showed diploid peaks. PCR products demonstrated that the allele of the mole was homozygous and inherited solely from the husband and that the mole differed genetically from the fetus and the placenta. CONCLUSIONS: These results suggested that DNA flow cytometry and DNA polymorphism analysis may be useful for the cytogenetic diagnosis of a complete hydatidiform mole and a coexisting fetus.  (+info)

Sonographic appearance of early complete molar pregnancies. (7/227)

Since our anecdotal experience indicates that the classically described "snowstorm" appearance on ultrasonography of early molar pregnancies is often not present and that theca-lutein cysts are also rare, we examined the ultrasonographic appearance of early complete molar pregnancies. We reviewed the ultrasonographic reports and clinical data of 21 cases of histologically diagnosed complete molar pregnancies with a mean gestational age at sonography of 10.5 weeks (range, 4 to 18 weeks). The diagnosis of molar pregnancy was made on ultrasonography in 12 (57%) cases, was second in the differential diagnosis of one (4.8%) case, and was not considered in eight (38%) cases. No theca-lutein cysts were identified. Five of five (100%) molar pregnancies of 13 weeks or over were diagnosed prospectively, while only eight of 16 (50%) earlier pregnancies were correctly diagnosed prospectively. In a retrospective review of the available images of 16 patients, only nine of 16 (56%) images demonstrated the classic appearance, and no theca-lutein cysts were seen. We conclude that the classic appearance of complete moles on ultrasonography is seen in less than two thirds of cases and even less commonly in the first trimester. The prevalence of theca-lutein cysts is very low.  (+info)

Purification and characterization of urinary choriogonadotropin from patients with hydatidiform mole. (8/227)

Human choriogonadotropin was isolated from urine of patients with hydatidiform mole by acid and salt precipitation, immunoaffinity, and DEAE-Sephadex chromatography. Polyacrylamide gel electrophoresis, immunodiffusion, immunoelectrophoresis, and NH2-terminal amino acid analysis showed that the product obtained is essentially homogeneous. This choriogonadotropin was found to resemble the choriogonadotropin from urine of normal pregnant women in amino acid composition but to differ from it in having a lower content of N-acetylglucosamine and mannose.  (+info)