Objective To assess the types and numbers of cases, gestational age at specific prenatal diagnosis and diagnostic accuracy of the diagnosis of skeletal dysplasias in a prenatal population from a single tertiary center. (88% and 89%, respectively) at the first diagnostic examination.
Methods
First-trimester screening between 11 + 0 and 13 + 6 weeks with qualified prenatal counseling, detailed ultrasound, biochemical markers and maternal factors has become the basis for decisions about further examinations. It detects numerous structural and genetic anomalies. The inclusion of uterine artery Doppler and PlGF screens for preeclampsia and fetal growth restriction. Low-dose aspirin significantly reduces the prevalence of severe preterm eclampsia. Cut-off values define groups of high, intermediate and low probability. Prenatal counseling uses detection and false-positive rates to work out the individual need profile and the corresponding decision: no further diagnosis/screening - cell-free DNA screening - diagnostic procedure and genetic analysis. In pre-test counseling it must be recognized that the prevalence of trisomy 21, 18 or 13 is low in younger women, as in submicroscopic anomalies in every maternal age. Even with high specificities, the positive predictive values of screening tests for rare anomalies are low. In the general population trisomies and sex chromosome aneuploidies account for approximately 70 % of anomalies recognizable by conventional genetic analysis. Screen positive results of cfDNA tests have to be proven by diagnostic procedure and genetic diagnosis. In cases of inconclusive results a higher rate of genetic anomalies is detected. Procedure-related fetal loss rates after chorionic biopsy and amniocentesis performed by experts are lower than 1 to 2 in 1000. Counseling should include the possible detection of submicroscopic anomalies by comparative genomic hybridization (array-CGH). At present, existing studies about screening for microdeletions and duplications do not provide reliable data to calculate sensitivities, false-positive rates and positive predictive values.
Autosomal-recessive PPS has not yet been diagnosed prenatally. We want to alert ultrasonographers to the diagnosis of this disorder in growth-retarded fetuses with (recurrent) hydrocephaly, agenesis of the corpus callosum, and cleft lip/palate and stress the more severe fetal manifestation, describing a first such case with additional Dandy-Walker cyst and occult meningoencephalocele.
Fetal tissues from 16 spontaneous abortions, two terminations, and one perinatal death, 18 of which were associated with maternal human parvovirus B19 infection, were examined for B19 infection by histology and in situ hybridization using a digoxigenin-labeled B19-DNA probe. In 15 spontaneous abortions and one termination, erythroblasts with intranuclear inclusions (lantern cells) reacted with B19-DNA by in situ hybridization. No internal or external fetal malformations were observed. Because 13 (86.7%) spontaneous abortions with lantern cells occurred between the 20th and 28th weeks of gestation, it is postulated that B19 infection may be a particular threat to the fetus during this stage of gestation.
Abstract.-DNA isolated from skin epitheliomas containing papovavirus induced lymphomas within four to eight weeks in 40 to 50 per cent of newborn Syrian hamsters injected. This DNA effect was eliminated by DNase but not by RNase and was not induced by DNA preparations of transplanted epitheliomas or the induced lymphomas. Lymphomas were similarly induced by cellfree filtrates from certain human tumors such as gastric carcinomas and ovarian tumors. Little or no lymphoma effects were observed following injections with filtrates derived from normal human or animal tissues or human blood. The lymphomas induced by DNA and human tumors were transmissible by cell-free filtrates to newborn Syrian hamsters; however, successful serial passage, like the primary lymphomas induced by the DNA preparations, depended upon the use of a newborn hamster from a special breeding colony of hamsters.Introduction.-In previous publications, we reported both the spontaneous incidence of multiple skin epitheliomas (papillomas) containing large numbers of papovaviruses in Syrian hamsters1 and an associated induction of leukemias, predominantly lymphomas.2 The latter originated in almost every case in the liver of Syrian hamsters which as newborns had been treated with cell-free filtrates from the hamster skin tumors. The hamster lymphomas, which were separately transmissible by cell-free extract, contained a virus with the morphology of the C-type murine leukemia virus; interestingly, the papovavirus present in skin tumors could not be detected in the lymphomas by electron microscopic examination. Herewith, we report additional results concerning especially the induction of hamster lymphomas by DNA from spontaneous skin epitheliomas containing papovavirus. In addition, experiments are briefly described in which the lymphomas also appeared in significant numbers after subcutaneous inoculation of hamsters with filtrates derived from certain human tumors.Materials and Methods.-DNA was isolated from tissues of primary skin epitheliomas containing papovavirus. The tissue was either freshly excised or frozen at -80'C. The
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