1/12. Persistent fetal rubella vaccine virus infection following inadvertent vaccination during early pregnancy.Inadvertent immunisation of seronegative women with RA27/3 rubella virus live-attenuated vaccine several weeks before and after conception is described. Whereas in 5 cases the vaccine virus was not transmitted vertically, in 1 case vaccination led to the development of persistent fetal infection with prolonged virus shedding for more than 8 months. sequence analysis carried out on isolates from amniotic fluid, from cord blood leukocytes as well as from infantile urine confirmed an infection by the vaccine strain. At birth, the newborn infant exhibited none of the symptoms compatible with the congenital rubella syndrome and signs indicative for development of late onset disease are not apparent. This observation constitutes the first unequivocal documented case of rubella vaccine virus related to persistent fetal infection.- - - - - - - - - - ranking = 1keywords = conception (Clic here for more details about this article) |
2/12. trisomy 1 in a clinically recognized IVF pregnancy.Most chromosomal trisomies lead to spontaneous abortion. To date, trisomies of all human chromosomes have been observed. Chromosome 1 has been the most elusive, as trisomy 1 was the last aberration to be identified. To date there has been only one case report of a full trisomy 1 in the literature [1997: Am J Med Genet 68:98]. We have identified a second full trisomy 1 from the chromosome analysis of products of conception. We present a patient who conceived by in vitro fertilization (IVF). The cellular divisions of the fertilized egg were carefully monitored prior to transfer. Hormonal changes (increased hCG) indicated that implantation had occurred. Vaginal ultrasound demonstrated a gestational sac. At 42 days postfertilization no fetal heart beat could be detected. cytogenetic analysis of the chorionic villi isolated from the products of conception found that all of the cells analyzed contained a 47,XY, 1 chromosomal complement.- - - - - - - - - - ranking = 2keywords = conception (Clic here for more details about this article) |
3/12. Laboratory diagnosis of congenital human cytomegalovirus infection using polymerase chain reaction and shell vial culture.Congenital HCMV infection was diagnosed at the 22th week of gestation. The infection was suspected because HCMV IgM was detected in a serum sample obtained from the woman's husband. HCMV infection was detected in the amniotic fluid by polymerase chain reaction, shell vial culture (immunoperoxidase assay) and conventional virus isolation. Serologic testing in paired sera of the woman and in umbilical cord blood for specific IgM and IgA remained negative. As serological data (preconceptional HCMV serostatus) were incomplete, a clear differentiation between primary and secondary infection could not be achieved; consequently, risk quantification could not be determined. Viruria was detected in the offspring during the 1st week post partum. No clinical signs of cytomegalic inclusion disease were diagnosed up to six weeks post partum. Our case report indicates that for pregnancy surveillance, serologic testing for HCMV antibody should also be performed in the spouse.- - - - - - - - - - ranking = 1keywords = conception (Clic here for more details about this article) |
4/12. First trimester prenatal diagnosis of congenital rubella: a laboratory investigation.Acute primary maternal infection with rubella virus during pregnancy often, but not invariably, leads to the congenital rubella syndrome. Diagnosis by detection of virus specific IgM in the mother is not always possible, and in those cases in which IgM is detected the fetus has not necessarily also been infected. A method for direct, prenatal detection of fetal infection would allow more accurate early diagnosis of congenital rubella syndrome. In this study a case of suspected preconception rubella infection that was not referred until 14 weeks after the appearance of a rash was studied to determine whether a retrospective serological diagnosis of primary rubella could be made, and whether direct evidence of fetal infection could be obtained from a chorionic villus biopsy specimen by detecting virus specific antigens or ribonucleic acid (rna) sequences. Monoclonal antibodies and a cloned complementary deoxyribonucleic acid probe were used successfully to detect antigens to rubella virus antigens and rna sequences in the chorionic villus biopsy specimen, which was taken at 15 weeks' gestation. This method should serve as a new approach to the diagnosis of congenital rubella syndrome in utero.- - - - - - - - - - ranking = 1keywords = conception (Clic here for more details about this article) |
5/12. prenatal diagnosis of cystic fibrosis by chorionic villus sampling using 12 polymorphic deoxyribonucleic acid markers.This report describes the application of a genetic prenatal diagnostic test for cystic fibrosis to a family with a cystic fibrosis-affected child. The test uses 12 deoxyribonucleic acid (dna) markers that bracket the cystic fibrosis gene on chromosome 7, and chorionic villus tissue as a source of dna from the fetus at risk for cystic fibrosis. The fetus was predicted by dna analysis to be unaffected (although a carrier of one cystic fibrosis gene); this diagnosis was confirmed postnatally by the standard sweat electrolyte test. The genetic linkage test is informative in more than 99% of families with cystic fibrosis-affected members and is also useful for determination of carrier status. The test is both more informative and more accurate than one based upon the markers Met and D7S8 (J3.11) alone. The analysis can be done directly from chorionic villus tissue, and therefore can provide a diagnosis as early as nine to 12 weeks after conception.- - - - - - - - - - ranking = 1keywords = conception (Clic here for more details about this article) |
6/12. 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 = conception (Clic here for more details about this article) |
7/12. Clinical features of multiple conception with partial or complete molar pregnancy and coexisting fetuses.The estimated incidence of twin pregnancy consisting of hydatidiform mole and a coexisting fetus is 1 per 22,000-100,000 pregnancies. Since 1965, nine patients with this entity have been treated at the new england Trophoblastic Disease Center (NETDC), boston. One patient had a partial hydatidiform mole coexisting with a normal placenta and fetus. The other eight patients had twin pregnancies with a complete hydatidiform mole (CHM) and coexisting fetus. We compared the clinical outcomes in these 8 patients and 14 additional published case reports of multiple gestations composed of CHM and coexisting fetuses with a group of 71 patients with singleton CHM treated at NETDC. Twelve of the 22 patients (55%) with CHM and coexisting fetuses developed persistent gestational trophoblastic tumor, requiring chemotherapy. Five of these patients developed metastases requiring multiple cycles of chemotherapy to achieve remission. The presenting symptoms of multiple conception with CHM and coexisting fetuses were similar to those in patients with a singleton conception and complete mole. However, as compared to singleton CHM, patients having a multiple conception with CHM and coexisting fetuses were diagnosed at a later gestational age, had higher preevacuation beta-human chorionic gonadotropin levels and had a greater propensity to develop persistent tumor. These data indicate that patients with multiple conceptions consisting of CHM and coexisting fetuses are at high risk of developing persistent gestational trophoblastic tumor.- - - - - - - - - - ranking = 8keywords = conception (Clic here for more details about this article) |
8/12. Morphology of the placenta in fetal I-cell disease.Placentas were studied from three interrupted pregnancies of a mother whose first liveborn child had I-cell disease (mucolipidosis II). I-cell disease of the fetus was shown by investigation of the amniotic fluid, fetal cells and the aborted fetus in two pregnancies, but in the third case placenta was the only available product of conception. In every placenta extensive vacuolization of the syncytiotrophoblastic layer of the chorionic villi and chorionic mesenchymal cells was found. In electron microscopy the inclusions were identical to those of other tissues in I-cell disease. The importance of histological study of placenta in unexplained spontaneous abortions needs to be emphasized, since this may be the only way of detecing new cases of lysosomal storage diseases.- - - - - - - - - - ranking = 1keywords = conception (Clic here for more details about this article) |
9/12. prenatal diagnosis of tetraploidy: a case report.We report on the second trimester prenatal diagnosis of an apparently nonmosaic tetraploid fetus, 92,XXYY. Indications for cytogenetic studies of the fetus included abnormal ultrasound findings and abnormal maternal serum levels of alpha-fetoprotein (AFP)/estriol. Chromosome analysis of amniocytes documented tetraploidy, a finding confirmed by flow cytometry of several fetal tissues. autopsy findings in the fetus are compared with those of other cases of tetraploidy. To our knowledge this is the first reported prenatal diagnosis of a tetraploid fetus. Additionally, it illustrates the value of flow cytometric analysis of products of conception in which polyploidy is suspected.- - - - - - - - - - ranking = 1keywords = conception (Clic here for more details about this article) |
10/12. trisomy 15 mosaic derived from trisomic conceptus: report of a case and a review.We report on a fetus with 47,XX, 15 chromosome abnormality detected on chorionic villus sampling (CVS). The pregnancy was terminated at 15.5 weeks of gestation and chromosome analysis done on amniocytes and fetal tissues showed a karyotype 46,XX/47,XX, 15. autopsy showed multiple abnormalities. Short-arm polymorphisms of the three number 15 chromosomes were highly informative in the delineation of parental origin and the stage of meiotic error. Using fluorescent in situ hybridization (FISH) with D15Z1 and a chromosome 15 painting probe, in addition to DA/DAPI and G-banding, we were able to show that the trisomic conceptus was derived through maternal meiosis I error. The trisomic state was then partially corrected by the loss of one of the two maternal 15s resulting in mosaicism without uniparental disomy (UPD). Striking differences in the proportion of trisomic cells in kidneys, blood, intestine, and skin, and lower proportions of trisomic cells in transformed and frozen than in fresh tissues, illustrate the continuing cell selection in this fetus in favour of the normal cell line. trisomy 15 conceptions are usually aborted spontaneously in the first trimester of pregnancy. The longer survival of this fetus is most probably the result of a chromosome 15 loss from the trisomic zygote. To the best of our knowledge, the presence of this lethal trisomy has been reported in only five live-born infants, and in five fetuses including the present case, it was detected prenatally and the pregnancies were terminated.- - - - - - - - - - ranking = 1keywords = conception (Clic here for more details about this article) |
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