[Leiomyosarcoma of the inferior vena cava. Diagnosis using endoscopic ultrasound-guided fine-needle aspiration biopsy]. / Leiomyosarkom der Vena cava inferior. Diagnose durch endosonographisch gestützte Feinnadelaspirationsbiopsie.

HISTORY AND ADMISSION FINDINGS: A 75-year-old woman was admitted because of upper abdominal pain, nausea and vomiting. INVESTIGATIONS: These symptoms were caused by a large tumor of the right retroperitoneal space. Computed tomography and transabdominal ultrasound did not unequivocally determine the site of the mass. Endoscopic ultrasound (EUS) and EUS-guided fine-needle aspiration biopsy (EUS-FNA) ensured safe immunohistochemical diagnosis of a leiomyosarcoma of the inferior vena cava (IVC). TREATMENT AND COURSE: The patient underwent successful en-bloc resection of the tumor and the IVC followed by prosthetic reconstruction. CONCLUSIONS: This case emphasizes the role of EUS and EUS-FNA in the diagnosis of retroperitoneal lesions. Leiomyosarcoma of the IVC, although rare, should be considered in the differential diagnosis of a retroperitoneal mass.

[Pregnancy in Takayasu arteritis]. / Schwangerschaft bei Takayasu-Arteriitis.

We report the course of pregnancy in a patient with Takayasu's arteritis type I and describe the diagnostical and therapeutical management with repeated Doppler-sonography. Immunosuppressive therapy was reduced in pregnancy and could be maintained on a low level even after delivery. In the third trimester arterial blood pressure raised up to 190/60 mm Hg and was sufficiently lowered by prescription of verapamil. Repeated Doppler-sonographic investigation beginning with 20 weeks of gestation revealed indices in the normal range during the whole pregnancy. After 37 weeks of gestation a healthy infant was delivered vaginally. The post partum course was uneventful.

Biochemical diagnosis in prenatal uropathy.

Thirty-two fetuses, six with prune-belly syndrome, seven with renal cyst, 19 with obstructive uropathy, underwent intrauterine fluid aspiration during weeks 15-37 of gestation. Fluid samples were analysed for Na, K, creatinine, urea, alpha 1-, and beta 2-microglobulin. Aspirate concentrations of sodium below 130 mmol/L and creatinine above 115 mumol/L indicate an active kidney and exclude a renal cyst. However, aspirates from fetal cysts or fetuses with obstructive uropathy showed analyte concentrations for sodium, potassium, creatinine, and urea corresponding to extracellular fluid (ECF). In conclusion fluid aspirates of fetuses with ultrasonographically detectable cystic cavities in the abdomen should be examined for sodium and creatinine to assess remaining renal function for planning of obstetric management.

[Osteochondrodysplasias. Prenatal diagnosis and pathological-anatomic findings]. / Osteochondrodysplasien. Pränatale Diagnostik und pathologisch-anatomische Befunde.

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.

[References for prenatal diagnosis of morphological defects including the central nervous system]. / Hinweise für die pränatale Diagnostik von morphologischen Defekten mit Einschluss des Zentralnervensystems.

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.

[Prenatally diagnosed mesenchymal hamartoma of the liver]. / Pränatal diagnostiziertes mesenchymales Hamartom der Leber.

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.

[Fetal teratoma--diagnosis and management]. / Fetale Teratome--Diagnostik und 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.

[Single umbilical artery--consequences of prenatal diagnosis]. / Die singuläre Umbilikalarterie--Konsequenzen dieser pränatalen Diagnose.

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.

[Pathomorphological and cytogenetic studies of embryonic abortions]. / Pathomorphologische und zytogenetische Untersuchungen embryonaler Aborte.

Cytogenetic studies into abortions have shown that in 50 to 60% of all abortion cases the presence of an aneuploid karyotype can be concluded simply from the histological findings obtained from the abortion sample. This has proved to be important not only for elucidation of the cause of abortion. Also, some cytogenetic studies have provided statistically useful information for counselling on the risk of repetition. However, there are also views according to which the risk of recurrence is not even increased in the wake of aneuploid abortion. Including in our investigation were 528 samples received by routine at the Charité Institute of Pathology from the Charité Obstetric Department, between October 1987 and June 1990. Macroscopic findings included 24 intact amniotic sacs with and 34 without embryonic fragments as well as 188 ruptured amniotic sacs. Only decidual particles were found in 249 cases, while no safe macroscopic assessment was possible of 33 samples. Investigation of the embryos proved to be essential to identification of malformations and determination of discrepancies between gestational age and embryonic development. Correlations were also established between age-specific incidence of abortions and age-specific fertility, with the risk of abortion being found to grow beyond the age of 30 years. Histological parameters recorded from 267 samples revealed links to specific chromosomal aberrations, with 136 of them (50%) being defined as chromosomally induced abortions. Seventeen in 34 abortions on which cytogenetic results had been obtained proved to be aneuploid, among them nine aberrations of trisomal karyotype. A triploid karyotype was exhibited by four and a monosomal karyotype by three. Mosaic was recorded in one case.(ABSTRACT TRUNCATED AT 250 WORDS)

[Ebstein anomaly as a rare cause of a non-immunological fetal hydrops: prenatal diagnosis using Doppler echocardiography]. / Eine Ebstein-Anomalie als seltene Ursache eines nicht immunologischen Hydrops fetalis (NIHF): pränatale Diagnose mittels Doppler-Echokardiographie.

The Ebstein's malformation occurs in 0.5% of patients with congenital heart disease. The prenatal diagnosis of such a malformation in the 33rd week of pregnancy is reported. The fetal echocardiography was performed owing to a severe nonimmune hydrops fetalis. The typical distal displacement of the annular attachment of the tricuspid valve leaflets could be viewed in the apical four-chamber view. The application of the pulsed Doppler ultrasound enables the analysis of the cardial haemodynamics and thus the assessment of the severity and prognosis of the diagnosed malformation. In our case the prognosis was interdisciplinary estimated as being very poor (severe cardiac lesion with congestive heart failure already in utero); In the following days intrauterine death occurred. The autopsy confirmed all the prenatal findings.

[Perinatal imaging diagnosis in twin pregnancies with humanus amorphus]. / Perinatale bildgebende Diagnostik bei Geminischwangerschaften mit Humanus amorphus.

The humanus amorphus or acardiac twin is a very rare anomaly found only in monocygotic multiple pregnancies. In 8 twin pregnancies observed from 1977 to 1988 at the Charité-Hospital the findings of perinatal imaging diagnostics (sonography, amniofetrography, postnatal radiography) have been presented. For the prenatal diagnosis, especially for continuous prenatal control in these high-risk pregnancies, sonography seems to be the suitable method. However, an exact classification and morphological description of such monstrosities will be possible only by postnatal radiography (eventually in combination with a transumbilical angiography). Six ouf of eight cases were classified as an acephalous type, and two as an acardius anceps fetus.

[Prenatal diagnosis of a double outlet right ventricle (DORV) using *doppler echocardiography with subsequent observation of intrauterine heart failure]. / Pränatale Diagnose eines double outlet right ventricle (DORV) mittels Doppler-Echokardiographie mit nachfolgender Beobachtung eines intrauterinen Herzversagens.

Doppler echocardiography was used for the prenatal diagnosis of a double outlet right ventricle and coarctation of the aorta in the 30th week of pregnancy. Heart failure with intrauterine death was observed during blood flow measurements. End-diastolic loss of flow velocity in the umbilical artery and fetal aorta occurred first and was followed by total loss of flow in both vessels, although ineffective contractions of the heart were recorded for a further three minutes. We conclude that a lock of end-diastolic flow velocity in the aorta may not only be due to strong placental resistance but can also be caused by a heart defect of by impaired cardiac function. The four-chamber-view approach makes an accurate prenatal diagnosis of severe congenital heart defects possible.

[Endocrine cancer of the uterine cervix]. / Endokrines Karzinom der Cervix uteri.

There is reported about a woman with endocrine carcinoma of the uterine cervix. The histologic growth pattern and clinical course have been described. Because of the poor prognosis of the endocrine carcinoma in the uterine cervix when compared with adenocarcinoma of the cervix or carcinoid tumors of other localization, this report emphasizes the importance of correct diagnosis.