Diagnostic problems in a case with mucometrocolpos, polydactyly, congenital heart disease, and skeletal dysplasia.

Mucometrocolpos is the distention of the uterus and vagina caused by obstruction to the drainage of genital secretions. Although most cases of mucometrocolpos are sporadic, it may be part of an autosomal recessive condition, known as McKusick-Kaufman syndrome (MKS), including postaxial polydactyly and congenital heart disease as main findings. The diagnosis may be difficult when the presence of additional findings creates an overlap with other syndromes. We report on a female infant with mucometrocolpos, postaxial polydactyly, congenital heart disease, short limbs, short ribs, and chest constriction. The clinicopathological findings are described and discussed in the context of the phenotypic spectrums of MKS and mucometrocolpos concomitant with Ellis van Creveld syndrome.

Perinatal mitral valve interventions: a report of 10 cases.

BACKGROUND: Rheumatic mitral valve stenosis is still an endemic disease in some parts of the world and may complicate pregnancy and perinatal period. During the 10-year period between January 1988 and December 1997, 10 pregnant women with mitral stenosis were operated on. METHODS: Combined cesarean delivery and closed mitral valvulotomy (CMV) were performed on 6 patients, combined cesarean delivery and Mitral Valve Replacement (MVR) were performed on 1 patient, and 3 patients had CMV during their third trimester. RESULTS: There was 1 stillbirth. All other patients and delivered babies were healthy. MVR was necessary for mitral restenosis in one patient 5 years after her CMV. Three of the remaining patients had some degree of restenosis but did not require reoperation. CONCLUSION: CMV when indicated during pregnancy can be performed with low risk. For symptomatic patients responding to medical therapy, a combined approach of cesarean section and CMV will prevent possible complications that may arise on perinatal period due to hemodynamic fluctuation.

First trimester fetal heart rate measurements by transvaginal ultrasound combined with pulsed Doppler: an evaluation of 1331 cases.

The aim of this study is to present the cardiac activity measurements obtained from 1331 embryos and first trimester fetuses in whom the crown-rump length (CRL) measurements were between 2 and 60 mm, and to correlate the pattern of changes according to growth in body length, with an objective and reliable technique; transvaginal ultrasound combined with pulsed Doppler. Sonographic examinations were performed using a Combison 320-Kretz scanner with a 5-7.5 MHz vaginal probe with 240 degrees scanning angle, combined with a 4.5 MHz pulsed Doppler. As the embryo grows, the mean heart rate increases sharply, from 106.8 +/- 6.4 at a CRL of 2 mm to 178.3 +/- 7.0 at a CRL of 23 mm; followed by a plateau and a slight decline thereafter. Statistical analysis of the body length and corresponding heart rate revealed a relationship with a correlation coefficient of 0.61 (P < 0.01), whereas relationship between CRL < or = 23 and corresponding heart rate was striking with a correlation coefficient of .87 (P < 0.01).

Second trimester pregnancy termination including fetal death: comparison of five different methods.

OBJECTIVE: To compare the efficacy of methods for second trimester pregnancy termination. METHODS: A prospective randomized study of women undergoing pregnancy termination between 14 and 28 weeks gestation. Three hundred and forty patients with poor cervical condition (Bishop score < or = 4) in whom one of five termination methods were used were assessed: (i) extraamniotic administration of ethacridine lactate (82 patients); (ii) intracervical prostaglandin (PG) E2 gel (100 patients); (iii) intravenous infusion of concentrated oxytocin (36 patients); (iv) vaginal misoprostol (49 patients); and (v) balloon insertion (73 patients). Oxytocin infusion was used in all but concentrated oxytocin group to augment labor, when necessary. Patients in whom effective uterine contractions and cervical dilatation was not obtained within 48 h with the primary termination method were registered as failures. RESULTS: The efficacy of each method were evaluated in terms of abortion within time. Abortion within 48 h were achieved in 98.8% (81/82) of the patients in ethacridine group; 97.3% (35/36) of the patients in concentrated oxytocin group; 90.0% (90/100) of the patients in PGE2 group; 97.2% (71/73) of the patients in balloon group; 77.5% (38/49) of the patients in misoprostol group (P = 0.000, P < 0.01, Wilcoxon (Gehan) statistic). The overall median induction-abortion interval +/- S.D. (in h) in each group were as follows: ethacridine lactate: 15.7 +/- 9.6, PGE2 gel: 20.0 +/- 14.5, concentrated oxytocin: 12.2 +/- 14.4, misoprostol: 24.0 +/- 22.2, balloon: 16.0 +/- 15.4 (one way ANOVA, P = 0.003, P < 0.01). CONCLUSION: In comparison with the five methods, the use of extraamniotic ethacridine, intravenous concentrated oxytocin, and balloon was found to provide more effective treatment than intracervical PGE2 and misoprostol in terms of achievement of abortion within 24 and 48 h.

PIP: The efficacy of 5 methods of second-trimester pregnancy termination was compared in a prospective, randomized study of 340 women admitted to a High Risk Pregnancy Unit in Ankara, Turkey, with an unfavorable cervical state. The women were between 14 and 28 weeks' gestation. Termination methods assessed included: extra-amniotic administration of ethacridine lactate (82 women), cervical ripening through use of prostaglandin (PG) E2 gel (100 women), intravenous infusion of concentrated oxytocin (36 women), intravaginal misoprostol (49 women), and balloon insertion (73 women). Oxytocin infusion was used to augment labor, where necessary, in all but the concentrated oxytocin group. The main indications for pregnancy termination were fetal death (50%) and fetal anomaly (25%). Abortion within 48 hours was achieved in 98.8% of women in the ethacridine group, 97.3% of those in the concentrated oxytocin group, 90.0% of women in the PGE2 group, 97.2% of patients in the balloon group, and 77.5% of those in the misoprostol group. The median induction-abortion intervals were: ethacridine lactate, 15.7 +or- 9.6 hours; PGE2 gel, 20.0 +or- 14.5 hours; concentrated oxytocin, 12.2 +or- 14.4 hours; misoprostol, 24.0 +or- 22.2 hours; and balloon, 16.0 +or- 15.4 hours. Overall, these results suggest that mid-trimester induced abortion with extraamniotic ethacridine, balloon application, or intravenous concentrated oxytocin are the most effective techniques and should be considered as alternatives to misoprostol and PGE2.

Portal vein thrombosis concomitant with thrombophilia during pregnancy.

The experience with portal vein thrombosis, an uncommon cause of portal hypertension complicating pregnancy is currently too brief to form definite conclusions regarding the management. The coexistence of the manifestations of portal hypertension as hypersplenism and esophageal varices together with Protein C and S deficiencies during pregnancy presents a real dilemma for diagnosis and management. We report the clinical follow-up of a 24-year-old woman in whom Protein C was detected in her two subsequent pregnancies besides portal vein thrombosis and discuss the changing levels of these proteins during pregnancy.

Hyperreactio luteinalis masquerading as an ovarian neoplasm in a triplet pregnancy.

Hyperreactio luteinalis is a non-neoplastic tumor-like ovarian lesion associated with pregnancy. Most patients are asymptomatic, with the ovarian enlargement being incidentally discovered at the time of cesarean section. It can simulate a neoplasm on clinical, gross and sometimes microscopic examination. We report a case of hyperreactio luteinalis in a patient, who was diagnosed as having polycystic ovary disease before conceiving a triplet pregnancy after three treatment cycles of human menopausal gonadotropin-human chorionic gonadotropin therapy, and discuss its pathogenesis.

Pregnancy and its complications after cardiac valve replacement.

The outcome of 64 pregnancies in 40 women who conceived after cardiac valve replacement were reviewed. Fetal wastage was 53.2% (25/47) in coumarin administered pregnancies, 36.4% (4/11) using heparin and 16.7% (1/6) without anticoagulants. Two fetal malformations were noted in coumarin administered pregnancies. There were two maternal deaths. Maternal morbidity due to antenatal bleeding, atrial fibrillation, thromboembolic episodes and cardiac failure were found to be 20.0% (8/40), 17.5% (7/40), 10.0% (4/40) and 10.0% (4/40), respectively.

Effects of prophylactic chemotherapy for postmolar trophoblastic disease in patients with complete hydatidiform mole.

An analysis of 233 patients with complete hydatidiform mole admitted to Hacettepe University Hospital between 1964 and 1988 has been carried out. Methotrexate was administered prophylactically to 19 of 120 low-risk and to 52 of 113 high-risk patients. The difference in the incidence of postmolar gestational trophoblastic disease between prophylactically untreated and treated groups of either low-risk (13.9% versus 5.3%, P greater than 0.01) or high-risk (26.2% versus 25.0%, P greater than 0.01) patients was found to be statistically insignificant. Drug toxicity and mortality rates were 16.9% and 2.8%, respectively. It is concluded that prophylactic chemotherapy is not highly effective in the prophylaxis of postmolar gestational trophoblastic disease. Strict follow-up through sensitive betahuman chorionic gonadotropin assays should be the standard management of postmolar patients.

Comparison of two tests and absorbance at 650 nm for assessing fetal lung maturity.

The clinical performance of three rapidly performed tests--tap test, TDx Fetal Lung Maturity and amniotic fluid absorbance at 650 nm--in predicting fetal lung maturity were evaluated in 300 samples of clear amniotic fluid. In all cases, delivery occurred within three days of sample collection. Of the 300 newborns, 44 developed respiratory distress syndrome. For the tap test, the sensitivity (95.4%), specificity (82.8%), and predictive value for maturity (99.7%) and immaturity (48.9%) were comparable to those of the TDx fetal lung maturity test: sensitivity of 100%, specificity of 88.3%, and predictive value for maturity of 100% and immaturity of 53.1%. The specificity (68.4%) and predictive value for immaturity (34.7%) of amniotic fluid absorbance at 650 nm were significantly lower than for the TDx and tap tests, whereas no significant difference was found for sensitivity and prediction of maturity between amniotic fluid absorbance at 650 nm and the TDx and tap tests. Both the tap and the TDx tests appear to be useful in antenatal assessment of fetal lung maturity in terms of reliability, rapidity and uniformity.

Pregnancy outcome after hydatidiform mole, initial and recurrent.

Pregnancy outcome after complete and partial hydatidiform mole was evaluated in 170 patients. Of the 170 patients, 143 became pregnant a total of 250 times. Patients with incomplete hydatidiform mole had 232 subsequent pregnancies that resulted in 169 (72.8%) term deliveries, 30 (12.9%) spontaneous abortions, 7 (3.0%) induced abortions, 6 (2.6%) stillbirths, 13 (5.6%) preterm deliveries, 6 (2.6%) recurrent moles and one (0.4%) ectopic pregnancy. Of the subsequent pregnancies in patients with partial hydatidiform mole, full-term delivery, spontaneous abortion and recurrent mole occurred in 10 (55.6%), 5 (27.8%) and 3 (16.7%) of the patients, respectively. Among the 9 patients with recurrent hydatidiform mole, viable term pregnancy was achieved in 4. Even patients with recurrent hydatidiform mole can be assured that they can have a normal subsequent pregnancy.

Remission rates and significance of prognostic factors in gestational trophoblastic tumors.

The clinical courses of 82 women with gestational trophoblastic tumors were evaluated in accordance with International Federation of Gynecologists and Obstetricians staging, traditional criteria and the modified World Health Organization prognostic scoring system. The overall remission rate was 79.3% (65/82), and the mortality rate was 20.7% (17/82). All the patients with nonmetastatic stage I disease and all with prognostic scores less than or equal to 4 attained remission, whereas patients at high risk and with stage IV disease had the lowest remission and survival rates. The results support the validity of each system. However, the World Health Organization scoring system, a combination of traditional criteria and International Federation of Gynecologists and Obstetricians staging seemed to be the most reliable for predicting treatment failures.

Pregnancy after chemotherapy for gestational trophoblastic disease.

Forty-nine women who had received chemotherapy for gestational trophoblastic disease subsequently became pregnant a total of 65 times. Of these 65 pregnancies, 42 (64.7%) terminated in term births, 4 (6.1%) in premature births, 1 (1.5%) in stillbirth, 8 (2.3%) in spontaneous abortion and 7 (10.8%) in elective abortion, while 3 patients (4.6%) had repeat molar pregnancies. No congenital malformations or obstetric complications were observed. Treatment of gestational trophoblastic disease with chemotherapy is compatible with the preservation of fertility and is not associated with any increase in congenital fetal malformations.

Sonographic diagnosis of epignathus (oral teratoma), prosencephaly, meromelia and oligohydramnios in a fetus with trisomy 13.

Epignathus (oral teratoma), an extremely rare congenital tumour is generally known as an isolated anomaly with benign histology. We present a case of epignathus detected prenatally in an oligohydramniotic 24 week fetus in which anophthalmia, a single nostril, holoprosencephaly, meromelia, bilateral renal dysplasia and a club foot deformity were also present. Chromosome analysis revealed trisomy 13.

Meckel-Gruber syndrome concomitant with Dandy-Walker malformation: prenatal sonographic diagnosis in two cases.

Meckel-Gruber syndrome is an autosomal recessive disorder which comprises a characteristic triad of major abnormalities: renal cystic dysplasia, occipital encephalocele, and postaxial polydactyly. Because of the recessive inheritance, prenatal sonographic diagnosis is paramount for informed genetic counselling of affected pregnancies. However, Meckel-Gruber syndrome may demonstrate variation in phenotypic expression when some malformations are different from those traditionally accepted and cases may be evaluated as a different syndrome. The aim of this paper is to emphasise the phenotypic variability in Meckel-Gruber syndrome, and the importance of the prenatal sonography in the diagnosis. We also suggest that Dandy-Walker malformation or Dandy-Walker variant be accepted as one of the malformations which occur in the central nervous system as a part of the syndrome.

The influence of tocolytic therapy on serum digoxin-like immunoreactive substance concentration.

Digoxin-like immunoreactive substance (DLIS) has been proposed to have a role in what seems to be the timely onset of labor. The relationship between the DLIS in patients with preterm labor and the success of tocolytic therapy with ritodrine and nifedipine has been studied. Using a commercially available radioimmunoassay kit, DLIS levels were determined in a total of 47 women with preterm labor and in 30 control. Tocolysis was successful in 37 of 47 women, in 20 of whom nifedipine and in 17 ritodrine was the tocolytic agent. Mean DLIS concentration was higher in patients with preterm labor. Moreover, DLIS levels were found to be decreased by successful tocolysis as could be observed from the values before initiation of tocolytic therapy and on the 3rd day of tocolysis for both nifedipine (0.268 +/- 0.198 vs. 0.220 +/- 0.210 ng/ml) and ritodrine (0.250 +/- 0.176 vs. 0.196 +/- 0.147 ng/ml; Wilcoxon test, p < 0.05).

Sonographic features of tuberculous peritonitis with female genital tract tuberculosis.

Our aim was to illustrate the sonographic features of tuberculous peritonitis with female genital tract tuberculosis in an attempt to facilitate the recognition of the disorder preoperatively. Transabdominal and transvaginal sonographic features and the findings from laparotomy/laparoscopy, endometrial biopsy and microbiology were reviewed and compared in 15 patients with tuberculous peritonitis with female genital tract tuberculosis. Of the 15 patients, 12 had wet tuberculosis and three had dry (adhesive) tuberculosis. Sonographic features of wet tuberculosis were categorized as follows: septated ascites (ten patients), particulate ascites (two patients), loculated fluid (two patients), thickened peritoneum (eight patients), thickened omentum (eight patients), adnexal mass (11 patients), adhesions (seven patients) and endometrial involvement (five patients). Adnexal masses, adhesions and loculated fluid were found to be present in the dry type. When sonographic findings were compared with those of laparotomy and/or laparoscopy and/or endometrial biopsy, ultrasound was able to identify aspects of tuberculosis infection as follows: ascites/loculated fluid, 13/13 (100%); adnexal mass, 12/13 (93%); peritoneal thickening, 9/13 (69%); omental thickening, 8/13 (61%); and endometrial involvement, 5/6 (83%). We conclude that awareness of the sonographic changes associated with tuberculosis infection may improve diagnostic accuracy, and avoid clinical mismanagement and surgical explorations in the wet type of tuberculosis.

Distribution of ABO and Rh blood groups in patients with HELLP syndrome.

The aim of this retrospective study was to evaluate the relationship between HELLP (hemolysis, elevated liver enzymes, low platelets) syndrome and the maternal blood groups. Five hundred and forty-seven women with severe preeclampsia were included and divided into eight groups according to their blood groups: A Rh-positive (n=203), A Rh-negative (n=38), B Rh-positive (n=83), B Rh-negative (n=10), 0 Rh-positive (n=148), 0 Rh-negative (n=21), AB Rh-positive (n=39), and AB Rh-negative (n=5). The groups were controlled by analysis of variance and found to be homogeneous with respect to parity, gestational age, blood pressure, hemoglobin, hematocrit, platelet values, prothrombin time, partial thromboplastin time, fibrinogen, creatinine, alanine aminotransferase, aspartate aminotransferase, bilirubin, uric acid, and proteinuria. Incidence of HELLP syndrome was 24% in the overall study population whereas 48% of the patients with the blood group O Rh-negative had HELLP syndrome associated with an increase in risk by a factor of 3.1. To our knowledge this is the first report of such an association.

Ectopic pregnancy: transvaginal sonographic findings of 152 cases.

In a retrospective study performed on 152 cases of verified ectopic pregnancy, the features at transvaginal sonography were evaluated. A total of 146 (96%) of the patients had at least one abnormal sonographic feature and pelvic/cul-de-sac fluid was the most common finding, detected in all of the 146 patients. Pelvic/cul-de-sac fluid was particulate in 103 patients and simple in 43. Pelvic/cul-de-sac fluid together with extrauterine findings were found to be present in 93.8% (137/146) of the patients, suggesting the fact that if pelvic/cul-de-sac fluid was detected, every effort should be made to image the tube. The extrauterine transvaginal sonographic features included 102 (63.0%) patients with a mass, 60 (41.1%) with a gestational sac (with or without yolk sac or embryo), and eight (5.3%) with a living embryo. Comparison of the sonographic findings according to the status of the ectopic pregnancy revealed that particulate fluid (98.9%), and an extra-uterine mass (88.2%) were the features that aided in the diagnosis of ruptured and aborted ectopic pregnancies, whereas an extrauterine gestational sac (72.9%), and a living embryo (11.9%) were associated with intact ectopic pregnancies. Our findings support the practice of using transvaginal sonography, and ss-human chorionic gonadotropin measurements in the diagnosis and prediction of the status of ectopic pregnancy.

Iniencephaly: sonographic-pathologic correlation of 19 cases.

During a four year period (1991-1994), 19 cases of iniencephaly were evaluated at our institution. Associated cranial malformations include anencephaly in 15 (79%), and posterior encephalocele in 5 (26.3%) of the cases. Other associated malformations include diaphragmatic defects with a accompanying hernia, omphalocele, gastrointestinal malformations, cardiovascular and genitourinary malformations, single nostril, facial cleft, spina bifida, hypoplastic lungs, club foot and single umbilical artery. No single causative agent for this group was identified. A brief review of the literature is included regarding categorization of these malformations and also a discussion of the embryological basis for these lesions and possible etiological factors.