Transabdominal chorionic villus sampling in the second and third trimesters of high-risk pregnancies.

Late chorionic villus sampling (placental biopsy) under ultrasound guidance was carried out in 800 (80 per cent) cases in the second trimester and 200 (20 per cent) cases in the third trimester of pregnancy. Out of 1000 placental biopsies, 250 (25 per cent) were performed because of suspicious ultrasonographic findings. Colour Doppler was used to investigate the uteroplacental and fetal vessels in 300 (30 per cent) pregnancies before and after late chorionic villus sampling (CVS). In the same group, mean serum alpha-fetoprotein (AFP) levels increased after sampling in 20 (6.7 per cent) patients. In 20 patients (2 per cent), complications between sampling and delivery were found. A placental haematoma measuring 0.5-1 ml was seen at the sampling site in 4 (0.4 per cent) patients in the second trimester of pregnancy and in 3 (0.3 per cent) in the third trimester. Two (0.2 per cent) demonstrated fever, but there were no instances of chorioamnionitis. There were only three (0.3 per cent) spontaneous abortions 4-6 weeks after late CVS. However, there was no correlation between AFP elevation, placental haematoma, Doppler measurements, and spontaneous abortion. Cytogenetic findings were obtained in 990 (99 per cent) of 1000 placental samplings. We found 60 (6.0 per cent) chromosomal abnormalities. In the group with suspicious ultrasonic findings (250 cases), we found significant oligohydramnios in 125 (50 per cent) and significant polyhydramnios in 60 (24 per cent), and 45 (18 per cent) had chromosomal abnormalities. Among the 60 patients with chromosomal abnormalities, ultrasonographic findings in 10 (16.7 per cent) were detected after the 20th week of pregnancy. There were no significant differences in mean pulsatility index (PI) in the uteroplacental and fetal vessels before and after late CVS. Preliminary data from five trisomic fetuses (three trisomy 21 and two trisomy 18) showed abnormally increased umbilical PI and abnormally decreased middle cerebral artery PI.

Occlusal plane orientation in Klinefelter syndrome (47,XXY males).

Occlusal plane position was analysed cephalometrically in 35 Klinefelter adults (47,XXY) and compared with 60 eugnath control males (46,XY). The significantly smaller angles between the occlusal plane and the cranial base (NSL-OLs) and between the occlusal plane and the Frankfort horizontal plane (Fr-OLs) were obtained in 47,XXY males (P < 0.01), while the angles between the maxillary base and the occlusal plane (NL-OLs) and between the Camper's line and the occlusal plane (Camp.-OLs) were not significantly different (P > 0.05) from the control group. Significantly smaller angles between the occlusal plane and the cranial base (NSL-OLs) and between the occlusal plane and the Frankfort horizontal plane (Fr-OLs) in Klinefelter males are attributed to the hereditary influence of an extra X chromosome on the smaller growth of the cranial base and the greater growth of the lower border of the mandible. Although the maxilla was also shifted forward in XXY males in relation to the cranial base it was not enough to compensate for the hereditary influence, due to the greater growth of the lower border of the mandible and the smaller cranial base in 47, XXY males, on the inclination of the occlusal plane to the Frankfort horizontal plane and the cranial base. The forward shift of the maxilla was sufficient to compensate for the inclination of the occlusal plane in 47, XXY males to the maxillary base and the Camper's line (P > 0.05).

First trimester diagnosis of cystic hygromata using transvaginal ultrasound and cytogenetic evaluation.

We studied the outcome of fetuses in whom cystic hygroma was diagnosed in the first and early second-trimester of pregnancy using transvaginal ultrasonography. The purpose of this study was to evaluate the association between fetal cystic hygroma and fetal cytogenetic abnormalities, and the long-term prognosis. Thirty-five consecutive fetuses between 9.1 and 13.4 weeks of gestation diagnosed as having a nuchal hygroma were evaluated ultrasonographically and karyotyped. Those with a normal chromosome complement were ultrasonographically monitored throughout the remainder of the pregnancy to document the resolution of the hygroma. Eighteen of thirty-five fetuses were found to have a normal karyotype and five of these were aborted electively. The hygromas resolved in ten of these karyotypically normal fetuses within four weeks of initial diagnosis and they were phenotypically normal at birth. Seventeen fetuses were karyotypically abnormal with trisomy twenty-one being the most common abnormality. Prenatal cytogenetic analysis should be offered to women with fetal cystic hygroma diagnosed in the first trimester. A normal outcome is likely in those without chromosome abnormalities.

Shape of the craniofacial complex in patients with Klinefelter syndrome.

The shape and size of the craniofacial complex in 35 adults with Klinefelter syndrome (47,XXY) were analyzed cephalometrically and compared with 60 control males. Twenty-four angular and 18 linear measurements were obtained for each subject. The results showed that the 47,XXY males were different from the controls in several areas of the craniofacial skeleton. Most of the differences were located in the cranial base and the cranial base angle (p < 0.02). The length of the maxillary base was greater (p < 0.05) and more prognathic (p < 0.01) in the study group. The mandible was also longer and more prognathic (p < 0.01).

Preoperative diagnosis of primary fallopian tube carcinoma by transvaginal ultrasound, cytological finding and CA-125.

Primary Fallopian tube carcinoma is rarely diagnosed preoperatively. We present the case of a 69-year-old woman with primary tubal carcinoma, which was diagnosed preoperatively on the basis of the cytological finding, characteristic features on transvaginal sonography, transvaginal color flow imaging and elevated CA-125. Transvaginal color Doppler imaging demonstrated the tumor revealed areas of neovascularization with characteristic low impedance (resistance index, 0.34 and pulsatility index, 0.62). Pathohistologic confirmation of the clearcell carcinoma has been done.

First-trimester diagnosis of cystic hygromata by transvaginal sonography.

This paper reports two cases of fetal nuchal cystic hygromata diagnosed in the first trimester of pregnancy by transvaginal sonography. In the first case, at 10 weeks' gestation, in addition to the hygromata, the fetus had an exomphalos. In the second case, at 13 weeks' gestation, the fetus had hydrocephalus and pleural effusion. Transabdominal chorion villus sampling was carried out and the fetal karyotypes were trisomy 18 and trisomy 21, respectively.

Transabdominal placental biopsy in the second and third trimester of pregnancy.

Transabdominal placental biopsy under ultrasound guidance was carried out in 260 cases in the second trimester and 50 cases in the third trimester of pregnancy. Placental tissue was aspirated using an 18 or 20 gauge needle. In a total of 310 placental biopsies in the second and third trimester, 100 were performed because of suspicious ultrasonographic findings. Placental biopsy is simple in the presence of severe oligohydramnios where fetal blood sampling is usually more difficult. Oligohydramnios and polyhydramnios were the ultrasonographic findings in 50% of cases and were found to be associated with 30% of abnormal chromosomal findings. There was one (0.3%) abortion within two weeks following placental biopsy. Placental biopsy did not affect the outcome of the pregnancy.

New technique for processing paraffin-embedded tissue for Y chromosome fluorescence identification of trophoblastic disease.

A new reprocessing technique for Y chromosome fluorescent body (q 12 region) detection of trophoblastic disease in previously paraffin-embedded tissues is described. Deparaffinized sections were treated with pronase and trypsin for digestion, followed by hydrolysis with HCl and acetic acid, staining with quinacrine hydrochloride fluorochrome and mounting in Sørensen's phosphate buffer (pH 5.5). Use of the technique resulted in sufficient fluorescence quality and better accuracy for Y and X heterochromatin scoring. The technique yielded the same results in retrospective formalin-fixed, paraffin-embedded trophoblastic specimens as in fresh tissues. The combinations of enzymes and acids and the dosages necessary for optimal results are discussed.

[The effect of vaginal administration of interferon on squamous intraepithelial cervical lesions]. / Utjecaj vaginaleta interferona na cervikalnu skvamoznu intraepitelnu leziju.

Human papillomavirus vaginal and/or cervical infections were found in 1.98 percent of mostly younger female general populations and in 26.6 percent of cases with abnormal Pap smears. Antiviral treatment with human leukocyte interferon (HLI-alpha) vaginalettes was introduced at the beginning of 1987. In 30 cases a daily dose of 1 x 10(6) IU HLI during two 21-day menstrual cycles was applied. In 137 controls without therapy and the treated group a 12-month follow-up was performed. Every third month the regression, persistence or progression of the cervical squamous intraepithelial lesion (SIL) was determined by cytology and colposcopy. Most of the cases with progression were histologically confirmed. For ethical reasons the placebo treatment of the control group with an identical spectrum of disease was not feasible. Therefore, a secondary analysis and the 2 test were used. Up to now the results show a significant regression (21 out of 30, X2 = 4.51, P less than 0.05) in the treated group and progression (23 out of 137, X2 = 18.41, P less than 0.01) in controls. HLI vaginalettes are easily applicable, without any side-effects.

HLA and red blood group antigens in pregnancy disorders.

Total of 356 women with various types of pregnancy disorders as well as their husbands were classified in four groups regarding the type of the disorder as follows: 1. Recurrent spontaneous abortions (RSA) of unknown etiology (N = 105) and RSA - primary aborters only (N = 84); 2. Blighted ovum (N = 80); 3. Rh immunization in pregnancy (N = 90); 4. ABO immunization in pregnancy (N = 47). Two groups of couples were used as controls: 1. Couples randomly taken from forensic medicine cases of paternity evaluation (N = 104); 2. Couples having two or more children with HLA immunization in pregnancy (N = 78). The couples from all groups were typed for red blood group antigens of ABO, Rhesus, MNSs, Kell, Duffy, Lewis, Kidd and P systems and also for HLA antigens. Significantly higher frequency of antigen HLA-A9 was found in women with RSA (corr. p = 0.0003) and in women with pregnancy disorders caused by Rh immunization (corr. p = 0.0136). In couples with RSA the degree of HLA compatibility was significant (p = 0.0048) and the reactivity of spouses in MLR was significantly decreased (p = 0.0001). Significantly, more low responders in MLR were also found among the women with RSA as compared to the controls (p = 0.0217). Two possible pathologic mechanisms may explain the association between HLA antigens and RSA: 1. immunological defects which are linked to HLA-D/DR region causing malfunction of immunosuppressive mechanisms during pregnancy; 2. endocrinological defect which is linked to HLA region as 21-OH hydroxylase deficiency gene.

Cytological and biochemical methods for the characterization of in vitro cultured cells.

The aim of our presentation was to show how we characterize cells cultured in monolayer system. Cytological and biochemical methods were used. Ovarian Krukenberg tumour fibroblasts were investigated and findings were correlated with normal human diploids (HDZ1) and with fibroblasts obtained from Blighted ovum. Cytomorphologically Malignancy associated changes in the tumour fibroblasts were found. Cytochemically acid phosphatase and alpha-naphtyl-esterase were positive (+++). PAS reaction was doubled in 18th passage. Cytogenetically normal human diploids were found. Biochemically enzymatic assay showed phosphopentose shunt is decreased in tumour fibroblasts and alpha-glucosidase and beta-galactosidase activities were significantly lower in these cells. A form of N-acetyl-beta-glucosaminidase fell during the investigation from normal 75% to lower percent (42% of the total activity). Much more parameters were obtained by different methods and Krukenberg tumour fibroblasts may be better understood. In vitro investigation makes a contribution to biomedical knowledge in cancer research.

Interferon treatment of uterine cervical precancerosis.

Human leukocyte interferon (HLI) was used in a randomized study of patients with precancerous states on the uterine cervix. The daily dose of HLI was 10(6) units and its was applied by the contraceptive pessary technique. In patients how had had only viral alterations on the cervix the treatment lasted 14 days (Singer et al. 1979) and in those with changed cytologic findings 21 days. The cytologic findings of the interferon treated patients showed no progression of the pathologic process during the ensuing 2 years. In the control group, however, they showed the aggravation of the process and the patients were directed to surgical therapy. The control of cytologic findings has been continued and in now performed at 3 month intervals.

[Cervical factor in sterile couples with an ovulatory cycle normospermia and patent tubes]. / Cervikalni faktkor u sterilinih brakova s ovulacijskim ciklusom, normozoospermijom i prohodnim tubama.

In 54 sterile married couples with a normal biophasic cycle, passable tubes, and normozoospermia, the properties of the cervical mucus were investigated. The biphasic cycle was determined according to the basal temperature curve, in which the hyperthermal phase lasts 12 days or more, the concentration of pregnanediol in the urine on the 22nd day of the cycle (6.4 mg/24h), estrogen on the 12th day of the cycle (78.4 micrograms/24h), and the LH concentration on the 13th day of the cycle (58.3 U/l). A positive crystallization test was found in 12 out of 54 patients and the postcoital test in 8 out of 54 patients. In 31 patients with the clinical symptoms of colpitis and cervicitis the culture of the cervical secretion showed pathogenic bacteria in 24 patients. Eighteen patients were subjected to conization previously. A positive crystallization test and a normal postcoital test were found only in 14 out of 17 patients following conization but in not single patient with cervicitis. After antibiotic therapy and stimulation with estrogens a restitution of the function of the cervical mucosa was observed in 25 patients, while 12 patients became pregnant. Inflammation proved to impair the normal function of the cervical mucosa, and if lasting long, it can lead to irreversible changes. Also surgery in cervix can result in the destruction and reduction of cervical glands and should therefore be strictly medically indicated and carefully performed, especially in nulligravidae.