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Biomedical subjects

R Rauskolb

Publications and source records attributed to R Rauskolb.

At least 19 recordsLinked to original sources
PubMed1994

Risk of fetal Down's syndrome based on maternal age and varying combinations of maternal serum markers.

Serum samples from 320 women with chromosomally normal fetuses and from 50 women with fetuses affected by Down's syndrome were assayed retrospectively for human chorionic gonadotropin (hCG), pregnancy-specific beta 1 glycoprotein (SP1), alpha fetoprotein (AFP), and unconjugated estriol (uE3) between 14 and 21 weeks of gestation. Nonparametric discriminant analysis was applied to calculate Down syndrome risks on the basis of various combinations of serum parameters. At a risk threshold that falsely identifies 5% of controls as being affected, 46 to 48% of Down syndrome pregnancies were detected by combinations of hCG/AFP, hCG/AFP/uE3, and hCG/AFP/uE3/SP1 respectively. HCG, AFP, and uE3 were assayed in 652 serum samples from women who underwent amniocentesis because of maternal age (> or equal to 35 years in this prospective study). 49% of women with euploid fetal karyotype, 8 of 10 pregnancies with Down's syndrome, and 3 pregnancies with sex chromosomal anomalies were identified as being at an increased risk (> 1:380).

Biomarkers↗
PubMed1992

False-negative prenatal diagnosis of restrictive dermopathy.

Restrictive dermopathy is a rare autosomal recessive lethal skin dysplasia. It has been assumed that the characteristic morphologic abnormalities should allow a reliable prenatal diagnosis on fetal skin biopsies at about 20 weeks pregnancy. We report on a false-negative prenatal diagnosis.

Abnormalities, Multiple↗
PubMed1991

Risk of miscarriage after transcervical and transabdominal CVS in relation to bacterial colonization of the cervix.

Cervico-genital colonization with micro-organisms poses a potential threat to the pregnancy when transcervical (TC) CVS is performed. In order to evaluate this threat, cervical swabs in 478 patients were obtained and cultured for bacteria, yeasts, and mycoplasmas; chlamydias were detected by an enzyme immunology test. Two hundred and seventy-one patients had CVS done transvaginally and 207 underwent transabdominal (TA) CVS. Transvaginal specimens were obtained in 61.6 per cent by forceps biopsy. Overall in 29.9 per cent of patients micro-organisms were detected, the rate and distribution of different species being the same in both groups. There were 36 (7.5 per cent) miscarriages up to 28 weeks of gestation in the combined groups, 29 (10.7 per cent) in the TC-CVS group and 7 (3.4 per cent) in the TA-CVS group. When miscarriages occurred after TC-CVS, bacteria/yeasts were involved in 10.3 per cent of cases and mycoplasmas in 37.9 per cent, this proportion being almost the same in early (less than 2 weeks) and late (greater than 2 weeks) miscarriages. After TA-CVS, in 28.6 per cent only mycoplasmas, and this only in late miscarriages (greater than 2 weeks), were involved, accounting for 40 per cent of late miscarriages.

Abortion, Spontaneous↗
PubMed1991

Incidence of abortion after genetic amniocentesis in twin pregnancies.

Fetal outcome after genetic amniocentesis (AC) in viable twin pregnancies was analysed in a retrospective study at three centres in order to estimate the rate of fetal loss after AC. The maternal age ranged from 33 to 45 years (mean 36.7 years). The gestational age varied between 15 and 20 weeks of gestation (mean 17.1). In 98 viable twin pregnancies with complete follow-up, spontaneous abortion of both fetuses occurred within 28 completed weeks of gestation in eight pregnancies and six women aborted within 20 completed weeks of gestation after AC, corresponding to a rate of fetal loss of 8.1 and 6.1 per cent, respectively (excluding the loss of five twins with viable outcome of the co-twin in five pregnancies).

Abortion, Spontaneous↗
PubMed1990

Applicability of 19-DEJ-1 monoclonal antibody for the prenatal diagnosis or exclusion of junctional epidermolysis bullosa.

Recently a monoclonal antibody (19-DEJ-1) was produced with binding specificity for the mid-lamina lucida of the skin dermo-epidermal junction, in very close association with overlying hemidesmosomes. Since skin cleavage occurs within the lamina lucida in the inherited blistering disorder, junctional epidermolysis bullosa (EB), and is associated with aberrations in the morphology and/or number of hemidesmosomes in such tissue, we have sought to determine whether this monoclonal antibody could be used for prenatal diagnosis. Fetoscopy-directed skin biopsies were obtained from two fetuses at risk for junctional EB and post-mortem samples from two other fetuses with the Herlitz type of junctional EB, the latter after prenatal diagnosis by electron microscopy and termination of each pregnancy. Specimens were examined in part by light and electron microscopy for evidence of skin cleavage or other alterations in morphology, and in part by indirect immunofluorescence for altered basement membrane antigenicity. Three of four fetuses were shown to have intra-lamina lucida blister formation indicative of, and hemidesmosome hypoplasia proving, junctional EB. Each was also shown to lack expression of GB3 and 19-DEJ-1 antigens, consistent with findings noted postnatally in junctional EB; diagnosis was confirmed in each at the time of therapeutic abortion. A fourth fetus had no abnormalities detected; lack of disease involvement was confirmed at the time of delivery, and subsequently over 8 months of careful serial evaluation. We conclude that 19-DEJ-1 monoclonal antibody is an accurate and sensitive immunohistochemical probe for junctional EB, and may be employed in the prenatal diagnostic evaluation of fetuses at risk for this disorder.

Antibodies, Monoclonal↗
PubMed1990

Simultaneous placentacentesis and amniocentesis for prenatal karyotyping: report on 250 cases.

The efficacy and risks of simultaneous transabdominal chorionic villus biopsy (placentacentesis) and amniocentesis in the second and third trimesters were evaluated in 250 singleton pregnancies. The major indications were advanced maternal age (36.0 per cent), abnormal ultrasound findings (23.2 per cent), and low maternal AFP value (17.6 per cent). Nine abnormal karyotypes were found in placental tissue (3.6 per cent). The karyotypes of placental and amniotic cells were different in three cases, including two cases of false-positive mosaicism (0.8 per cent) and one case of a false-negative result (0.4 per cent) obtained by placental karyotyping. The problem of discrepant karyotypes in embryonic and extra-embryonic tissue does not seem to be restricted to the first trimester. The post-procedure fetal loss rate was estimated as approximately 1.8 per cent. We conclude that the procedure presented here combines the advantages of rapid karyotyping (placentacentesis) and high diagnostic reliability (amniocentesis). It does not seem to be necessary to restrict its use to late presentations and suspicious ultrasound findings.

Amniocentesis↗
PubMed1990

[Risk of abortion following genetic amniocentesis in the 2d trimester in twin pregnancies].

Though the risk of abortion after amniocentesis in singleton pregnancies is well known, that for twin pregnancies is still unclear. A retrospective study was performed during December 1985 to May 1989 on all twin pregnancies that had undergone an amniocentesis, because of advanced maternal age. Out of the 33 patients aged greater than or equal to 35 years with viable and sonographically normal foetuses at the time of amniocentesis, three aborted spontaneously within 28 weeks of gestation, representing a risk of abortion after amniocentesis of 9.1%; using a cut-off at 20 weeks of gestation, only two patients aborted, giving a risk figure of 6.1%. This is 3.6 times higher than in singleton pregnancies (1.7%). However, to evaluate the procedure-related risk of amniocentesis, the age-dependent spontaneous abortion risk in twin pregnancies has to be considered. Accepting a spontaneous abortion risk of 4.5% after 16 weeks of gestation we have to calculate an amniocentesis-dependent risk of 1.6% up to the 20th week of gestation. It is essential, that the obviously higher genetic risk in twin pregnancies and the risk of procedure should be discussed carefully, before a patient with a twin pregnancy is advised to undergo genetic amniocentesis.

Abortion, Spontaneous↗
PubMed1989

Down syndrome at birth not detected by first-trimester chorionic villus sampling.

A case of a false-negative first-trimester diagnosis following chorionic villus sampling is reported that ended with the birth of a child with Down syndrome. Chromosome analysis of 30 metaphases from 24 h-cultured chorionic villi obtained in week 12 of gestation showed a normal chromosome constitution. However, the newborn showed manifestations of Down syndrome, and 99 of 100 metaphases analysed from cultured lymphocytes showed 47, XY, + 21. The remaining metaphase was normal (46, XY).

Chorionic Villi Sampling↗
PubMed1989

Probable exclusion of juvenile neuronal ceroid lipofuscinosis in a fetus at risk: an interim report.

In a family with two children affected by juvenile neuronal ceroid lipofuscinosis (JNCL) an attempt was made at the prenatal diagnosis of the disorder. The following tissues from the fetus at risk were investigated by electron microscopy and were found to be free of fingerprint profiles and curvilinear bodies, typical for JNCL: uncultivated amniotic fluid cells, lymphocytes isolated from fetal blood, and fetal skin biopsy specimens. The child was born at the 34th week of gestation and was clinically normal at the age of 15 months. Postnatally, lymphocytes (isolated at the age of 6 and 15 months) and skin tissue (taken at the age of 15 months) were found to be morphologically normal. It is highly unlikely that the child is affected but definite proof of the absence of JNCL remains difficult at this age.

Amniocentesis↗
PubMed1989

Abnormal pregnancy sonogram and chromosomal anomalies: four years' experience with rapid karyotyping.

Over a four-year period, 140 pregnancies with different malformations detected by ultrasound were examined cytogenetically. Gestational age ranged from 13 to 36 weeks. Twenty-six fetuses (18.6 per cent) had abnormal karyotypes, including trisomies, triploidy, monosomy X, and structural anomalies. Similar malformations were found in fetuses with different chromosomal anomalies, indicating that the types of malformations are not specific for particular chromosomal anomalies. Chromosomal analysis was performed on amniotic fluid culture and by direct karyotyping of placental biopsies. Direct karyotyping is suggested to be the most rapid approach, especially if sonographic anomalies are detected close to the 24th week of gestation, shortly before delivery, and in cases of significant oligohydramnios.

Chromosome Aberrations↗
PubMed1988

Feto-maternal transfusion after chorionic villus sampling. Evaluation by maternal serum alphafetoprotein measurement.

The alphafetoprotein (AFP) concentration in maternal serum was determined before and after chorionic villus sampling (CVS). A significant increase of 20% or more in the pre-CVS level was noted immediately after sampling in 59% of 837 pregnancies indicating some degree of feto-maternal haemorrhage. The increase in the AFP concentration in maternal serum was correlated with the weight of the tissue sample but not with the number of sampling attempts. A correlation of AFP increase and frequency of spontaneous abortions following CVS was suggested only in the group with an AFP increase of more than 100% or with a continuing rise in the first hour following CVS. CVS in early pregnancy obviously did not interfere with maternal serum AFP screening for neural tube defects in the second trimester. Although AFP measurement before and after CVS seems to have no immediate diagnostic application, in the research phase of CVS it may help to identify those procedures that are the least traumatic.

Abortion, Spontaneous↗
PubMed1987

Roberts syndrome and SC phocomelia. A single genetic entity.

A family with three siblings showing different manifestations of Roberts syndrome or SC phocomelia is described. With regard to previously published cases of familial Roberts syndrome and SC phocomelia we conclude that these two syndromes are one and the same genetic entity.

Abnormalities, Multiple↗
PubMed1984

[Diagnosis of fetal sex from trophoblast DNA].

By using recombinant DNA technology fetal sex determination was performed with 13 different trophoblast samples. In all cases trophoblast and fetal sex were identical. The importance of first trimester trophoblast biopsy for the prenatal diagnosis of inherited disease is being discussed.

DNA↗