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Biomedical subjects

R Bollmann

Publications and source records attributed to R Bollmann.

At least 91 records · Page 5Linked to original sources

[References for prenatal diagnosis of morphological defects including the central nervous system].

Clinical and autopsy records of 209 stillborn and 81 miscarried infants with 484 congenital defects of the central nervous system were analysed. Sets of more than one defect were retrospectively classified by pathogenetic criteria as syndrome, sequence, association and midline defects. Pathogenetic thinking makes the prenatal diagnosis of further defects easier if one has already been diagnosed. Statements regarding the most probable localisation of neural tube defects have been made.

Abnormalities, Multiple↗

[Prenatal diagnosis of type II Arnold Chiari malformation].

During a 7-year-period 22 foetuses with an Arnold-Chiari deformity were diagnosed. The reason for referring to our centre were severe additional malformations. In 2 cases protrusion of the fetal brainstem is documented by sonography prenatally. Prenatal diagnosis of an ACM has not been documented in the literature. The cytogenetic and microbiological findings including the additional malformations are presented. Pathogenesis, outcome and treatment options are discussed.

Abnormalities, Multiple↗

[Osteochondrodysplasias. Prenatal diagnosis and pathological-anatomic findings].

Prenatal sonographic investigations were applied for malformations to 7,194 foetuses, between October 1985 and April 1992, with 28 cases of osteochondrodysplasia (OCD) and one case of dysostosis being dissected. Included were 20 cases of lethal osteochondrodysplasia, among them two cases of lethal hypophosphatasia, five cases of thanatophoric dysplasia, one case each of Type II shortrib (polydactyly) syndrome (VERMA-NAUMOFF) and metatropic dysplasia, three cases of campomelic dysplasia and eight cases of Type II A imperfect osteogenesis. Also observed were eight cases of nonlethal OCD, among them three cases of diastrophic dysplasia and five of achondroplasia. Dysostosis was recorded from one case and was diagnosed as Type V acrocephalosyndactyly (Pfeiffer). Identification of a specific OCD proved to be difficult in the second or third trimenon. Hence, the form of OCD was prenatally diagnosed only in ten of all cases investigated. Tentative diagnosis was first established from the postmortem radiograph. Additional malformations and other abnormalities then were detected by complementary pathologico-anatomic processing of findings. The final diagnosis was derived from radiological, pathologico-anatomic and histological findings. Diagnosis of this constitutional osteopathy is quite difficult and calls for interdisciplinary cooperation between gynaecologists, neonatologists, paediatric surgeons, radiologists, geneticists and pathologists. More effective counselling of affected families is the major purpose of all the efforts involved.

Adult↗

Determination of S fimbriae among Escherichia coli strains from extraintestinal infections by colony hybridization and dot enzyme immunoassay.

449 E. coli strains obtained from septic infections (124 isolates), urinary tract infections (246) and water (79) were surveyed for S/F1C fimbrial DNA by DNA hybridization and for expression of S fimbriae by enzyme immunoassay. S/F1C fimbrial DNA was detected with greater frequency in septic (35%) and urinary (43%) isolates than in water isolates and was often associated with the O2, O4, O6, O18, O83, and O156 serogroups. Most O45 strains did not possess such sequences. Only 12% and 28%, respectively, of the septic and urinary strains possessing S/F1C fimbrial DNA expressed S fimbriae.

Bacteremia↗

[Single umbilical artery--consequences of prenatal diagnosis].

The authors report about the prenatal diagnosis of 34 cases of fetuses with a single umbilical artery (SUA) observed at the Perinatal Center of Charité. Between January 1989 and June 1991 the SUA has been associated with some adverse perinatal events, such as low birth weight (35%), congenital malformations (35%), perinatal mortality (11%) and placental alterations (76%). The incidence was not higher in girls than in boys. We did not find any chromosomal anomalies in our cases. An accurate ultrasonographic examination of the SUA in the 16th to 20th week is very important. The prognosis of the newborn could be improved by efficient diagnosis and optimum management of pregnancy and of delivery at a perinatal center.

Congenital Abnormalities↗

[Prenatally diagnosed mesenchymal hamartoma of the liver].

Reported in this paper is the case of a female newborn with mesenchymal hamartoma of the liver. High-accuracy ultrasonography diagnostics were applied to the mother admitted for examination for suspicion of fetal hydronephrosis in the 31st week of pregnancy. A 7 x 4 cm compartmental process was delineable in the abdominal region of the foetus and was variably viewed in ultrasonography in cystic or solid form. A girl, 2,650 g in body weight and 47 cm in body length, was delivered by caesarean section in the 35th week of pregnancy. Postnatal nutritional disorders were accompanied with recurrent vomiting. Sonography, computed tomography and scintigraphy were performed, and the prenatally diagnosed process was identified as a cystic growth in the right liver lobe with enclosure of the V. cava inferior. A typical hepatolobectomy was performed on the newborn on her 15th day of age, with the V. cava enclosing part being left unextirpated. Mesenchymal hamartoma of the liver was the histological diagnosis. Only one prenatally diagnosed case of this kind had been known from literature before.

Cesarean Section↗

[Choroid plexus cysts in the 2d trimester--an indication for trisomy 18].

The application of high resolution ultrasound in the prenatal diagnosis enables a detailed differentation of the intracerebral structures in the fetus. In a period of 16 months (Jan. 1990-June 1991) we diagnosed at the "Center for prenatal diagnosis and therapy" at the Charité's Hospital in 14 fetuses among 1800 investigated plexus chorioideus cysts. A rapid karyotyping after cordocentesis was performed in 11 cases. In 3 of them a trisomy 18 could be detected. In one fetus having a normal karyotype we could find besides the cysts multiple structural anomalies. In these 4 cases the termination of pregnancy was performed. In the other 10 pregnancies we could observe a spontaneous regression of the plexus cysts. These results suggest that the prenatal diagnosis of plexus chorioideus cysts is a indication for cytogenetic evaluation in order to detect a trisomy 18.

Abnormalities, Multiple↗

[Fetal teratoma--diagnosis and management].

Fetal and neonatal teratoma is rare, but it is the most common tumor of the fetus and meonate. We report seven cases with fetal sacrococcygeal teratoma and two cases with craniocervical teratoma. The diagnosis, further management of pregnancy and birth are described and compared with recent literature. While craniocervical teratoma is associated with very poor prognosis, there are sacrococcygeal teratoma with good survival rate and postoperative good functional results. Very important is prolongation of pregnancy near to term.

Coccyx↗

[Prenatal diagnosis of truncus arteriosus communis (type I) in diabetic pregnancy].

Recently Ferencz et al. [6] using the datas of the Baltimore-Washington Infant Study found a predominance of double outlet righ ventricle and truncus arteriosus communis among the congenital heart diseases of newborns of diabetic mothers. This paper reports about the prenatal diagnosis of a truncus arteriosus communis Type I in a 23 year old pregnant with insulin-dependent diabetes mellitus (White B). The diagnosis was performed in the 25th week using Real-Time- and Color-Doppler-sonography. The important features in the prenatal differentialdiagnosis from a tetralogy of Fallot are explained. The optimal management of pregnancy, the delivery at a perinatal center with subsequent operative correcture could improve the prognosis of the newborn.

Diabetes Mellitus, Type 1↗

Cu/Zn superoxide dismutase quantification from fetal erythrocytes--an efficient confirmatory test for Down's syndrome after maternal serum screening and sonographic investigations.

An enzyme immunoassay especially designed for the quantification of Cu/Zn superoxide dismutase (SOD) in erythrocytes has been applied to measure the SOD of outcomes with high risk for Down's syndrome. From 148 fetuses SOD was quantified from erythrocytes of umbilical vein blood and related to the number of cells, the content of haemoglobin (Hb), and to the haematocrit (Hc). Comparative studies between the SOD content of erythrocytes from the fetuses and their mothers resulted in similar SOD levels (14.09 +/- 1.20 for fetal and 14.48 +/- 1.63 for maternal cells) with a 1.84-fold smaller variance for fetal cells. The best differentiation between normal fetuses and fetuses with Down's syndrome resulted from the SOD/cell ratio followed by the SOD/Hb ratio. Fixing a cut-off value from the probability density functions that the method results in a specificity of 99.99 per cent, the sensitivity to detect cases of Down's syndrome was 99.71 per cent for the SOD/cell ratio, 70.92 per cent for the SOD/Hb ratio, and 60.21 per cent for the SOD/He ratio. Nine cases with Down's syndrome were correctly diagnosed by the SOD/cell ratio determination. Eight of these were confirmed as free trisomy 21 by karyotype analysis and one was found to be a triploidy. The latter was not detected by the SOD/Hb and SOD/Hc ratios because of the one-third higher content of haemoglobin and the larger volume of the erythrocytes which resulted in ratios within the normal range.

Adult↗

False-negative prenatal exclusion of Wiskott-Aldrich syndrome by measurement of fetal platelet count and size.

The study of the fetal platelet count and size can, according to the literature, be used for the prenatal diagnosis of the Wiskott-Aldrich syndrome (WAS). So far, no affected fetuses have been identified by this method. All pregnancies in which this method had been applied to resulted, as correctly predicted, in the birth of normal children. Here we report on a familial case of WAS where the haematological parameters failed to reveal the affected second child. Hence we assume that the platelet count and size of platelets remain normal in fetuses with WAS to the gestational age of 22 weeks and cannot be used for prenatal diagnosis.

Adult↗

[Tracheal atresia--a special association with esophageal atresia and hydramnion].

This case report describes the prenatal diagnosis of an oesophageal atresia with the previously unpublished associated malformation of tracheal atresia. The knowledge of associated malformations or deformations in prenatally diagnosed oesophageal atresia can considerably improve the prognosis by an optimised post partum care of the newborn. Tracheal atresia can at present not be diagnosed prenatally; the possibility to identify it remains an isolated case and must therefore be taken into consideration whenever an oesophageal atresia is observed.

Abnormalities, Multiple↗

[Clinical significance and fetal outcome in end-diastolic decreased flow in the umbilical artery and/or fetal aorta: analysis of 51 cases].

The AEDV in the umbilical artery or the foetal aorta is considered to be the most severe waveform abnormality. Using pulsed Doppler, we found such a waveform in 51 foetuses out of 954 high-risk pregnancies (33/51 in both vessels, 17/51 aorta only and 1/51 umbilical artery only). A reverse flow was registered in 24 foetuses. The outcome was compared with that of a control group (n = 72) showing normal Doppler findings. The following parameters were highly significant (p less than 0.001): Rate of Caesarean section owing to foetal distress (85.3% to 4.8%), of growth retardation (IUGR) (66.7% to 6.0%), of premature delivery (73.5% to 7.5%), of low postnatal pH- and Apgar score (73.5 to 12.1%), of admission to the neonatal intensive care unit (94.1% to 8.6%), of morbidity (35.3% to 2.3%) and of mortality (41.1% to 0%). We observed 17/51 intrauterine and 4/51 postnatal deaths. The rate of malformations was 35.3% with 4 cases of aneuploidy. Considering the malformations, the rate of corrected mortality was 23%. We found, that the association of an AEDV and the absence of severe IUGR is highly suspicious of malformation. We also observed, that congenital heart diseases (CHD) could lead to an AEDV too. An AEDV precedes a pathological cardiotocogram (CTG) with a latency of 0 to 35 days (mean 9.5 days). This latency is not predictable, but we think, that a reliable assessment of jeopardy is possible by analysing further vessels (Aa. arcuatae, A. renalis, A. carotis interna): 72.5% of the foetuses with AEDV had high indices in the carotid artery and 93.1% among these showed a pathological CTG pattern.(ABSTRACT TRUNCATED AT 250 WORDS)

Aorta↗

[Fetal echocardiography. II. Normal and pathological anatomy in real-time ultrasonography].

The paper is a practical approach to fetal echocardiography using real-time ultrasound. The normal sonoanatomy of the fetal heart is presented for the non-cardiologist. The basic cross-sectional views are explained as well as the systematic analysis of the different fetal heart structures. The main heart malformations are reviewed with a description of their appearance in prenatal real-time-ultrasound illustrated by some figures. The examination of the fetal heart could be easy learned, but the assessment and the differentiation of congenital heart defects are only possible by a systematic approach, experience and patience. The examination of the fetal heart should be therefore involved in the screening-ultrasound performed by the prenatal sonographer and suspicious findings has to be referred to a perinatal center.

Echocardiography↗

[Rectal cancer with choriocarcinomatous differentiation].

Extragonadal choriocarcinoma are extremely rare. In the cases reported until now most of the extragonadal choriocarcinoma were localized in the stomach. The case described in this report is a carcinoma of the rectum with choriocarcinomatous elements. The specific biological, clinical and pathological characteristics of this carcinoma are discussed.

Aged↗

[Fetal echocardiography: Part III. Fetal arrhythmia].

The paper is a review of cardiac arrhythmias, as the most common cardiological symptom in the fetus. After exposing the basic knowledge of fetal pathophysiology necessary for the better und understanding of cardiac rhythm disturbances in the fetus, the classification of fetal arrhythmias is presented. The possibilities of modern diagnosis and differential diagnosis, such us the fetal ECG, the control of the heart rate patterns and the sonography are discussed. The usefulness of the real-time-directed and color-coded M-Mode-echocardiography in the diagnosis and classification of arrhythmias are emphasized as well as the significance of the intracardiac Doppler and simultaneous Doppler recordings in the inferior vena cava and aorta. The indications, ways and drugs used in the intrauterine therapy of arrhythmias are presented. The differentiated management related to the diagnosis is described, after reporting about our own experience with 261 fetuses with arrhythmias (27 tachycardias, 21 bradycardias and 213 ectopic beats).

Anti-Arrhythmia Agents↗