Early prenatal diagnosis by celocentesis.

BACKGROUND: Celocentesis is the ultrasound-guided aspiration of fluid from the extra-amniotic cavity at 7-8 weeks of gestation. This paper reports on the clinical application of celocentesis for early prenatal diagnosis. METHODS: Celocentesis was successfully performed in nine pregnancies and 1-2 mL of fluid were obtained after one needle insertion. The indications were prenatal diagnosis of beta-thalassemia or sickle cell disease (n = 6), Marfan syndrome (n = 1) and paternity testing (n = 2). Molecular biological techniques were used to analyze the celomic fluid and this was successfully carried out in all cases. RESULTS: In two cases pregnancy termination was performed at the request of the mother because in one case the fetus was found to have sickle cell anemia and in the second case paternity testing demonstrated that the father was not the woman's husband. In both cases the results were confirmed using the placental samples collected after pregnancy termination. In six of the seven pregnancies with desirable results, amniocentesis was performed at 16 weeks and the results were concordant with those obtained from celocentesis. All pregnancies were uneventful and resulted in the delivery of healthy and appropriately grown babies. CONCLUSION: Celocentesis may be a viable alternative to the currently used tests of chorionic villus sampling and amniocentesis.

Recombinant human erythropoietin in mildly anemic women before total hysterectomy.

UNLABELLED: The purpose of this study was to investigate the efficacy of preoperative recombinant human erythropoietin (rHuEPO) treatment in a group of mildly anemic women. METHODS: This randomized controlled study included 50 healthy, mildly anemic women who underwent total hysterectomy for leiomyomas. The study group (Group A) included 23 women who received rHuEPO 600 U/kg once weekly for three weeks, plus iron supplementation. The control group (Group B) included 27 women who received only iron supplementation. Blood samples were obtained on days -14, -7, 0, +3, +7 and +14. RESULTS: An increase in preoperative mean hemoglobin concentration was noted in both groups; however, the increase was significantly higher in Group A throughout the study period. Mean reticulocyte count was also significantly higher in this group, whereas mean ferritin level was significantly lower. No postoperative transfusion was needed in Group A, whereas five women were transfused in Group B. CONCLUSION: Rapid and persistent improvement of hematologic parameters makes the use of rHuEPO for preoperative treatment of mildly anemic women with benign uterine pathology a very interesting approach.

Clear cell ovarian carcinoma in a pregnant woman with a history of infertility, endometriosis and unsuccessful IVF treatment.

Ovarian cancer in pregnancy is a very rare event. We present here the case of a 37-year-old woman in whom a clear cell ovarian carcinoma was diagnosed in the first trimester of pregnancy. This patient had a history of infertility, endometriosis and two previous unsuccessful attempts of in vitro fertilization. Transvaginal sonography at six gestational weeks revealed a 6 x 4 cm ovarian cyst with an internal papillary excrescence. The cyst persisted throughout the first trimester, whereas the initial CA 125 value of 226 U/ml dropped to 61 U/ml at 12 gestational weeks. Exploratory laparotomy and cystectomy was performed at 14 weeks and the disease was classified as Stage Ic, arising in endometriosis. The couple decided to continue with pregnancy and the woman was followed by serial sonographic, MRI and CA 125 examinations. A cesarean section, hysterectomy, bilateral salpingo-oophorectomy and omentectomy was performed at 34 weeks. Histology and cytology were negative for recurrence. Four months later the woman and baby are doing well. We review cases of ovarian clear cell carcinoma diagnosed during pregnancy and discuss the association of endometriosis, infertility, infertility drugs and ovarian cancer.

Fetal loss following ultrasound diagnosis of a live fetus at 6-10 weeks of gestation.

OBJECTIVE: To examine prospectively the value of demographic characteristics and ultrasound findings in the prediction of subsequent fetal loss in pregnancies with live fetuses at 6-10 weeks of gestation. METHODS: Transvaginal ultrasound examination was performed in 866 pregnancies at 6-10 weeks of gestation. The relation of demographic data and ultrasound findings at the time of the initial assessment to subsequent fetal loss was examined. RESULTS: In the 668 singleton pregnancies with live fetuses and complete follow-up there were 50 (7.5%) fetal losses. The incidence of fetal loss increased significantly with maternal age and decreased with gestation. In the pregnancies resulting in fetal loss, compared to those with live births, the incidence of vaginal bleeding and cigarette smoking was higher, the fetal heart rate was significantly lower and the gestation sac diameter was smaller but the yolk sac diameter was not significantly different. CONCLUSION: In pregnancies with a live fetus at 6-10 weeks' gestation the rate of subsequent fetal loss is related to maternal age, gestation, cigarette smoking, history of vaginal bleeding and the ultrasound findings of small gestation sac diameter and fetal bradycardia, relative to crown-rump length.

Unicornuate uterus and uterus didelphys indications and techniques for surgical reconstruction: a review.

Unicornuate uterus and uterus didelphys consist of miscellaneous congenital malformations of the female genital system. These anomalies can cause many gynecological and obstetrical complications including infertility, ectopic pregnancy, recurrent abortions and preterm deliveries. Laparoscopy and hysteroscopy are two helpful operative procedures in establishing an accurate diagnosis and treating effectively. A case of a patient with unicornuate uterus and longitudinal vaginal septum, who presented at our hospital suffering from infertility, is reported.

Successful myomectomy during pregnancy.

BACKGROUND: Although leiomyomas usually remain asymptomatic during pregnancy, they may complicate its course. In this study, pregnancy outcome observed when myomectomy was performed during pregnancy in carefully selected patients is presented. METHODS: A prospective cohort study of 13 women who underwent myomectomy during pregnancy between January 1994 and December 2001. Surgical management of leiomyoma was required on the basis of characteristics of the myoma and symptoms. RESULTS: Among a total of 15,579 women registered at the authors' prenatal clinic, 622 consecutive pregnant women had sonographically identified myoma; hence, the incidence was 3.9% (95% CI 3.6-4.3%). The vast majority of these women was asymptomatic during pregnancy or managed conservatively (97.4%; 95% CI 96-98%). Among 622 pregnant patients with leiomyoma, 13 presented with complications during pregnancy that required surgical intervention (2.1%; 95% CI 0.9-3.2%), due to increase in lesion size causing discomfort and/or severe abdominal pain not responding to conservative management with analgesic and non-steroidal anti-inflammatory drug medication. In 92% of these cases, successful myomectomy was performed and the pregnancy progressed to term without further complications. CONCLUSIONS: These data provide reassurance for pregnant women with uterine myoma. Surgical management of uterine leiomyoma during pregnancy may be successfully performed in carefully selected patients.

Recurrent bacterial vaginosis in a virgin adolescent: a new method of treatment.

Bacterial vaginosis (BV) is a polymicrobial infection of the vagina and should not be considered an exclusively sexually transmitted disease. We describe the case of a 17-year-old female virgin adolescent with recurrent malodorous vaginal discharge for 6 months. Before referral to us she had been treated unsuccessfully with conservative treatment options. Our investigation revealed Gardnerella vaginalis as the responsible factor for the vaginal infection. Because metronidazole treatment had failed as monotherapy, a new method was applied. Repeated vaginal washings with 3% H(2)O(2), 15% NaCl and 10% providone iodine were initiated. At the end of each washing, vaginal walls were thoroughly cleaned up with a small gauze. After 10 days of treatment the odor and the vaginal discharge had ceased and 12 months later no relapse had occurred. It seems to be reasonable to use this kind of treatment in recurrent BV.

A case of partial mole and atypical type I triploidy associated with severe HELLP syndrome at 18 weeks' gestation.

Partial mole is a rare complication of pregnancy and 90% of cases are associated with triploidy. HELLP syndrome is also a rare and life-threatening condition that occurs after 20 weeks' gestation. We report a case presenting with a combination of severe HELLP syndrome, partial mole, triploidy type I and fetal growth restriction at 18 weeks' gestation. Partial mole and any type of triploidy must be considered in cases of hydrocephalus and severe growth restriction in the second trimester of pregnancy. Our case highlights the fact that growth restriction can be associated with type I triploidy and that severe HELLP syndrome can develop in such cases even before 20 weeks' gestation.

Surgical management of early stage cervical cancer: ten years experience from one Greek health region.

PURPOSE OF INVESTIGATION: Cervical cancer is the second most common malignancy in women, in both incidence and mortality. In the present study, we report our results of treating 93 consecutive patients with early invasive cervical cancers (Stages I-IIA). METHODS: The patients of this study comprised all women recognized with stage I-IIA cervical cancer during 1991-2000. Patients with stage IA1 cervical cancer without lymphvascular space involvement underwent either conservative management by means of large loop conization or simple hysterectomy. The remaining patients underwent radical hysterectomy and lymphadenectomy or radiation therapy. Mean (+/- SD) duration of follow-up was 6 (+/- 1.7) years. RESULTS: The mean (+/- SD) age of patients with stage I-IIA cervical cancer was 41.3 (+/- 9.1) year. Thirty-five patients with stage [A1 disease were managed conservatively with loop excision and 19 patients subsequently became pregnant. Fifty-two patients with stage IA2, IB and IIA cervical carcinoma underwent radical hysterectomy and lymphadenectomy. CONCLUSION: Young women with stage IA1 cervical carcinoma wishing future fertility who undergo loop excision have a 100% cure rate. Women with stage IA2, IB, and IIA cervical cancer should undergo radical hysterectomy and lymphadenectomy or radiation therapy.

Complete hydatidiform mole and normal live birth: a novel case of confined placental mosaicism: case report.

Hydatidiform molar change, characterized by abnormal fetoplacental development and placental villous trophoblast hyperplasia, results from genetically abnormal conception, in which there is an excess of paternally derived genetic material. The majority of pregnancies in which molar change has been reported in association with a live fetus represent dizygotic twin pregnancies in which one fertilization results in a complete hydatidiform mole (CM) and the other a normal co-twin. In such cases, there is usually a clear distinction, both sonographically and pathologically, between the molar and non-molar regions of the placenta. We present a singleton pregnancy, with diffuse placental molar change detected prenatally, which resulted in a chromosomally and phenotypically normal female infant at term. Pathological examination revealed the presence of intermixed populations of morphologically normal chorionic villi and villi with the characteristics of CM. Studies of genetic polymorphisms demonstrated that the CM, normal villi and fetus were all derived from the same sperm; the fetus was diploid and biparental whereas the areas of pathological CM were androgenetic and monospermic. We believe this represents the first well-documented case of apparent confined placental mosaicism involving CM and a coexisting normal fetus, which has presumably arisen following mitotic abnormalities in the early post-fertilization period.

Bacteriological cultures of removed intrauterine devices and pelvic inflammatory disease.

Intrauterine devices (IUDs) are highly effective, long-term methods of contraception. Although evidence of a direct association between IUD use and pelvic inflammatory disease (PID) is scarce, concerns about PID related to IUDs use has limited their use throughout the world. We designed this study to examine the effect of IUDs on PID. For the study, we recruited 200 participants from among women who requested an IUD as a means of contraception. The IUDs were removed 36 months later or in case of PID. No PID cases were recorded during the follow-up period. Prior to IUD insertion, 121 women (60.5%) had symptoms and/or signs of lower genital tract infection, whereas during the follow-up period 179 women (89.5%) had symptoms and/or signs of lower genital tract infection. The Papanicolaou smears were negative for Actinomyces throughout the study period. Also, cultures for sexualy transmitted disease microorganisms were negative throughout the study period. Following IUD removal, 189 IUD cultures (94.5%) were positive. The bacterial flora of the removed IUDs consisted of common aerobic and anaerobic microorganisms that do not account for PID. The most common microorganisms identified were Staphylococcus coagulase negative, Eschericia coli, and Enterococcus faecalis. IUDs are a very effective and safe method of contraception if potential recipients are selected carefully. Culture of the removed IUDs and therapeutic management of women with positive cultures are not recommended when women are asymptomatic for PID.

Association of oestrogen receptor alpha polymorphisms and androgen receptor CAG trinucleotide repeats with male infertility: a study in 109 Greek infertile men.

This study was performed to examine the contribution of genetic polymorphism of oestrogen and androgen receptor (AR) genes in male infertility. We have studied in total 173 Greek men, 109 infertile patients and 64 controls (group A). Patients were divided in to three subgroups: group B (n=29) with idiopathic moderate oligospermia, group C (n=42) with azoospermia or idiopathic severe oligospermia and group D (n=38) with azoospermia or oligospermia of various known aetiologies. All patients and controls were genotyped for two polymorphisms of the oestrogen receptor alpha (ERalpha) gene and also for the (CAG)n repeat length polymorphism of the X-linked androgen receptor (AR)gene. The control group had statistically significant difference from group C regarding the XbaI polymorphism of ERalpha gene. Despite the fact that we did not observe any statistically significant differences in the mean and range of the CAG repeat number, the frequency of the higher repeats of the nucleotide repeat sequence (CAG)n of the AR gene was 2-4 times higher in groups B and C compared with the control group A. Our results indicate that both ERalpha and AR gene play significant role in male fertility. It is possible that a synergy may exist between unfavourable genotypes of these two genes in male infertility.

Short-term safety of celocentesis for the mother and the fetus.

OBJECTIVE: Celocentesis offers the potential for prenatal diagnosis from as early as 6 weeks of gestation. The aim of this study was to examine the short-term safety of celocentesis. METHODS: Eligible for the study were pregnant women with single live fetuses at 6-10 weeks of gestation, requesting pregnancy termination for social indications. At presentation, the patients were asked if they were willing to undergo celocentesis and in those women who agreed the procedure was performed at the time of the initial scan. A second scan was carried out just before termination to measure fetal crown-rump length and heart rate. RESULTS: Four hundred and forty-seven women requested termination of pregnancy and 108 of these agreed to have celocentesis. There were no significant differences between the groups in maternal age, prevalence of primigravidas, cigarette smokers, existence of uterine fibroids, the median fetal crown-rump length or the interval between the initial scan (or celocentesis) at presentation and the pregnancy termination. At the time of termination, ultrasound examination demonstrated fetal death in five (4.7%) of the celocentesis group and nine (2.7%) of the controls (odds ratio, 1.804; 95% confidence interval, 0.5912-5.504). In all other cases, there was normal fetal growth and there were no significant differences between the groups in fetal crown-rump length. CONCLUSIONS: The procedure related fetal loss associated with celocentesis may be approximately 2%.

Polycystic ovarian syndrome and thrombophilia.

BACKGROUND: Polycystic ovarian syndrome (PCOS) is associated with insulin-induced plasminogen activator inhibitor-1 (PAI-1) elevations. Since thrombophilic states correlate with high miscariage rates, as does PCOS, this study aimed at looking for thrombophilic predisposition in PCOS women compared with non-PCOS controls. METHODS: The prevalence of antithrombin III, protein S and protein C deficiencies, as well as factor V Leiden, prothrombin G20210A factor and methylene tetrahydrofolate reductase (MTHFR) mutations, was compared between two different groups of women, one with PCOS (n = 30) and one without PCOS (n = 45). RESULTS: Median proportions of activated protein C, S and antithrombin III as well as the activated protein C ratios were within normal ranges in both samples. There was no evidence that the genetic analysis for factor V Leiden or prothrombin factor differed between the two samples. The odds ratio (OR) of bearing a mutation on the MTHFR gene was 1.2-fold higher [95% confidence interval (CI) 0.470-3.065] in women with PCOS than in women without (P = 0.83). Although this difference is not statistically significant, it might indicate a slightly higher prevalence of heterozygous genotypes in women with PCOS (OR = 1.197, 95% CI 0.473-3.034). CONCLUSIONS: Molecular risk factors of hereditary thrombophilia do not show increased prevalence in women with PCOS in comparison with women in the general population. The existence of a possible trend towards higher prevalence of MTHFR mutation in women with PCOS needs further study, particularly regarding homocysteine levels.

Adenoid cystic carcinoma of Bartholin's gland: a case report.

Adenoid cystic carcinoma is an uncommon histological type of the already rare carcinoma of Bartholin's gland with 51 cases described in the literature. We present a case of a 66-year-old woman who was admitted with severe pelvic pain. In an examination under anesthesia a 10x5 cm apparently fixed mass at the left vaginal wall originating from the area of Bartholin's gland was found. and biopsy indicated carcinoma. The patient underwent wide local excision. Although clinically inoperable, the tumor did not infiltrate the bony pelvis and no evidence of metastasis was found. Pathology examination revealed adenoid cystic carcinoma of Bartholin's gland. PCR did not detect human papillomavirus DNA in the specimen. The patient has been treated with adjuvant radiotherapy, and is alive with no evidence of disease after ten months.

Preimplantation genetic diagnosis for spinal and bulbar muscular atrophy (SBMA).

X-linked spinal and bulbar muscular atrophy is characterized by adult onset motor neuron disease and results from a defect in the androgen receptor. The disease is caused by a dynamic mutation in the first exon of the androgen receptor gene, involving a CAG trinucleotide repeat. We have developed a single-cell polymerase chain reaction assay for the androgen receptor gene and describe the application of this assay for preimlantation genetic diagnosis (PGD) in a couple at risk, where the female partner is a carrier of 47 repeats. Diagnosis was based on the detection of both normal and expanded alleles. Allele dropout of the expanded allele was observed in only 1 of 25 lymphoblasts of the carrier and of a non-expanded allele in 1 of 20 research blastomeres tested before the actual PGD. One contraction of four repeats was also found in the carrier's lymphoblasts. Neither expansions nor contractions were observed in the blastomeres biopsied from 11 embryos. Two embryos were unaffected, eight were female carriers and one was an affected male embryo.

Evaluation of fetal heart monitoring in the first stage of labor.

OBJECTIVE: To evaluate the usefulness of continuous electronic fetal heart rate (FHR) monitoring in the first stage of labor. METHODS: A total of 814 pregnant women in labor without identifiable risk factors was divided into two groups. In group A (468 cases), continuous FHR monitoring began in the earliest phase of the first stage of labor (cervical dilatation < or = 4 cm), while in group B (346 cases) it began when the cervical dilatation was > 4 cm. Initial FHR tracings were normal in all 814 cases. The fetal monitoring findings were analyzed at 10-min intervals, and comparisons were made between the two groups concerning FHR findings and their correlation with the state of the newborns. RESULTS: No significant difference was found between the two groups in the incidence of repetitive variable decelerations (1.9% and 1.7%, respectively); sporadic variable decelerations (9.2% and 8.7%, respectively); persistent repetitive late decelerations that resulted in Cesarean section (1.1% and 1.4%, respectively); or sporadic late decelerations (8.3% and 8.1%, respectively). One newborn from each group required intensive neonatal care. CONCLUSIONS: The same tracing sufficiency of fetal stress was observed in the two groups. However, the manner of labor supervision in group B seemed to be more beneficial, because of greater maternal comfort, a lower necessity for personnel, lower consumption of cardiotocographic materials and the possibility of labor induction for more women. Since fetal monitoring is widely used, it is preferable to start continuous FHR monitoring when the dilatation of the cervix approximates 4-5 cm (second phase of the first stage of labor) without risk of fetal loss.

Effects of ball cauterization following loop excision and follow-up colposcopy.

OBJECTIVE: To investigate whether central diathermy ball cauterization after loop excision affects satisfactory colposcopy at follow-up. METHODS: One hundred one consecutive women with the squamocolumnar junction visible at the ectocervix scheduled for loop excision were assigned alternately into two groups. In group A, diathermy ball cauterization was applied to the entire crater following excision. In group B, cauterization was avoided in a 2-3-mm zone around the new os. The women were re-examined 4 months postoperatively by colposcopy and microcolpohysteroscopy with specific intention to identify the location of the squamocolumnar junction. The examiners performing colposcopy and microcolpohysteroscopy were not aware of each other's interpretation, or of the method of cauterization used. RESULTS: Follow-up colposcopy was satisfactory in 12 women in group A (24%) and 47 women in group B (92.2%) (P <.001). Forty-three women (86%) in group A and ten in group B (19.6%) had the squamocolumnar junction partly or fully located within the cervical canal (P <.001). Microcolpohysteroscopy located the squamocolumnar junction at a mean depth of 4.5 +/- 2.4 mm (+/- standard deviation [SD]) in the women in group A and 1 +/- 0.9 mm in group B (P <.001). Microcolpohysteroscopy could not be performed in 13 women in group A (26%) and one woman in group B (2%) (P <.001). CONCLUSION: Diathermy ball cauterization at the new cervical os after loop excision results in a shift of the squamocolumnar junction toward the endocervical canal, and predisposes to cervical stenosis, thereby decreasing satisfactory colposcopy rates.

Osteogenesis imperfecta and other skeletal dysplasias presenting with increased nuchal translucency in the first trimester.

We present two case reports of osteogenesis imperfecta associated with increased nuchal translucency in the first trimester. We also review the literature of first trimester diagnosis of skeletal dysplasias and their association with increased nuchal translucency.