Rearrangement of chromosome 1 is a frequent finding in endometrial carcinoma. An in situ hybridization study in nine endometrial carcinomas.

Nine endometrial carcinomas were examined for numerical aberrations of the chromosomes 1,7, and X by fluorescence in situ hybridization using highly repetitive chromosome-specific probes. In addition, a combination of a centromeric and a telomeric chromosome 1 probe was applied to detect structural chromosome 1 aberrations. Chromosome aberrations were found in six tumors. In four of these, an imbalance between 1q12 and 1p36 was detected, indicating the presence of an extra 1p- chromosome. In regard to the chromosomes 7 and X, monosomies and trisomies were found. Intratumoral genetic heterogeneity in endometrial carcinomas was detectable by FISH and flow cytometry. In conclusion, our findings confirm that chromosome 1 is frequently involved in structural chromosome changes, indicating chromosome 1 to be of importance in the evolution of endometrial carcinoma.

[Evaluation of the antepartum CTG course in cases of highly pathologic Doppler flow findings]. / Auswertung des antepartalen CTG-Verlaufs in Fällen mit hochpathologischen Doppler-Flow-Befunden.

In a group of 79 pregnancies with highly abnormal Doppler-flow findings in foetal vessels the value of antepartal CTG criteria was evaluated in detail. In cases with absent enddiastolic flow (AEDF) the prognostical value was not further increased by antepartal pathological CTG findings. In cases with permanently normal antepartal CTG's, however, foetal outcome was fairly good (median duration of pregnancy 38 + 6 weeks, median foetal birth weight 2,545 grams, arterial pH < 7.20 in 9%). This was true also in the presence of pathological Doppler-flow findings except AEDF. In cases with pathological antepartal CTG findings in the antepartal course of pregnancy the loss of acceleration was most frequent (82%), followed by decreased frequency (53%) or narrowed amplitude (38%) of the foetal heart rate variation. Combination of both methods (Doppler sonography and CTG) is recommended clinically because the rate of uncertain findings can be reduced. Especially in cases with AEDF an active management would be justified before CTG's become pathological.

[Doppler ultrasound of fetal blood vessels--optimizing the diagnostic value by a combined diagram]. / Doppler-Sonographie der fetalen Gefässe--Optimierung der Aussagekraft durch ein Kombinationsdiagramm.

The dopplersonographic data of 1926 pregnant women in the 3. trimester of pregnancy was used to evaluate a graphic system for the analysis of A/B-ratio in fetal vessels (pulsed wave duplex system; descending aorta and umbilical arteries). The basis of the newly developed combination diagram were dopplersonographic standard values (single cut off and pregnancy duration related percentiles). One of the results was the fact, that the combined measurement and analysis of both fetal vessels increased the positive predictive value compared to single measurements. The value of dopplersonographic examinations in the aorta was slightly better than those in the umbilical arteries. The combined diagram showed a marked improvement in graphicness, especially in follow-up cases, and a partial improvement in statistical values.

[Antepartum monitoring and peripartal findings in mono- and dichorial twin pregnancy]. / Antepartale Uberwachung und peripartale Befunde bei mono- und dichorialer Zwillingsschwangerschaft.

In a group of 65 twin pregnancies the difference of perinatal findings and antepartal test results was evaluated in relation to amnionicity and chorionicity. Monochorionic placentation was found in 33% of the pregnancies. The rate of foetal malformation (11%), neuromuscular dysfunction (6%), perinatal mortality (11%) and duration of neonatal intensive care was increased in those cases. The most useful diagnostic tool was B-Mode-ultrasound (first detection and surveillance of multiple pregnancy, especially diagnosis of inter-twin growth discordancy). Non stress test and Doppler sonography were found to be of value as additional tests for detection of functional differences between both twins. There were no differences between findings in first and second twin as well as between findings in pregnancies with mono- or dichorionic placentation.

[Premature separation of the placenta--clinical findings and fetal monitoring]. / Vorzeitige Plazentalösung--klinische Befunde und fetale Uberwachungsmethoden.

In a study group of 41 pregnant women of postpartally confirmed placental abruption, the prognostic value of clinical and diagnostic findings was investigated. The incidence of placental abruption was 1.4% of all deliveries within a three-year interval. 51% of patients showed vaginal bleeding before delivery. Retroplacental haematoma was found in 49% of cases ultrasonographically. A total of 75% had a pathological CTG test. More than 95% of these findings occurred within 3 days before delivery. Abnormal Doppler flow findings in foetal vessels more than 3 days before delivery were seen in 62% of cases. In the last three days before delivery, 86% were abnormal. Preterm delivery before 37 weeks of gestation was registered in 82% of patients. Perinatal mortality amounted to 12%. The rate of severely dystrophic newborn was 30%. Even in cases with lack of the clinical and/or sonographical findings, the possibility of placental abruption should be considered, if an acute deterioration of cardiotocographic or Doppler-sonographic findings.

[Correlation of cotinine level in amniotic fluid, umbilical artery blood and maternal blood]. / Korrelation des Cotininspiegels in Fruchtwasser, Nabelarterienblut und mütterlichem Blut.

The aim of the present study was to determine the correlation of cotinine levels in amniotic fluid and in fetal and corresponding maternal blood samples. Amniotic fluid samples (N = 130) were taken during second trimester amniocentesis, umbilical artery blood samples (N = 75) at birth, both together with corresponding maternal blood samples. Self-reported smokers showed maternal serum cotinine levels > 15 ng/ml in 93%, self-reported nonsmokers levels < 15 ng/ml in 89%. Correlation of corresponding values for cotinine was 0.81-0.92. Cotinine values were increased in fetal blood and amniotic fluid in comparison to maternal serum levels. Despite the fact that pathophysiology is not fully understood, an accumulation of nicotine and its metabolites both in the fetus and in the amniotic fluid appears to be evident.

[Pathologic Doppler flow findings and cardiotocography results]. / Pathologische Doppler-Flow-Befunde und kardiotokographische Ergebnisse.

Of 1950 pregnant patients (2870 Doppler ultrasound measurements) we observed, in a study group with highly abnormal Doppler-flow findings (n = 66, Feb. 1990), a correlation of Doppler flow and FHR-recordings. Among these 66 patients we retained 60 (91%) in the hospital. They had at least 2 FHR-recordings a day. The results of Doppler flow measurements in the fetal aorta and umbilical artery correlated well with diagnosis of IUGR. The comparison of the overall results of both fetal vessels did not indicate any significant difference. In 21% of all patients with highly abnormal Doppler flow findings, was no abnormal FHR record until delivery. 26% already showed an abnormal non-stress test before the first pathological Doppler assessment, in 44% abnormal FHR-recordings were observed later than the first abnormal Doppler flow finding in the course of pregnancy. The median interval was 13.5 days in cases with increased Doppler flow parameters but with detectable end-diastolic blood flow and was reduced to 8 days in cases with absent end-diastolic blood flow. In 9% of all cases, abnormal results were found with both methods on the same day. In 32% we observed a reproducible notch in Doppler flow velocimetry of uteroplacental vessels. The rate of congenital malformations was 14%. Thus abnormal Doppler flow signals can be estimated as "early" prognostic criterias for a compromised fetus at risk.

Jumping translocation in a phenotypically normal female.

"Jumping translocation" jt refers to a rare type of chromosome mosaic, in which the same portion of a (donor) chromosome is translocated to different (recipient) chromosome sites. Jt have mainly been observed in lymphocyte cultures of patients with hematologic malignancies. We report a phenotypically normal female carrying a mosaic of two cell lines with the Xq26-qter segment translocated to the short arm of chromosomes 15 or 21 in peripheral blood lymphocytes. In skin fibroblasts, only the X/21 translocation was detected. We speculate that recombination between homologous repetitive sequences on non-homologous human acrocentrics may be the cause of such chromosomal rearrangements.