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Objectives: To present the clinical, cytogenetic, and molecular cytogenetic findings of prenatally diagnosed trisomy 3 mosaicism., Case and Methods: Trisomy 3 mosaicism is rare, and only two cases of prenatally diagnosed trisomy 3 mosaicism have been reported. Amniocentesis, performed for AMA, revealed a karyotype of 47,XX, + 3[8]/46,XX[27]. Periumbilical blood sampling (PUBS) showed 46,XX in 100 cells. Fluorescence in situ hybridization (FISH) analysis using an alpha satellite chromosome 3 probe confirmed the cytogenetic findings. A repeat amniocentesis confirmed mosaicism for trisomy 3 (47,XX, + 3[1]/46,XX[18]). The infant was delivered by elective C-section because of the presence of IUGR and oligohydramnios. The baby had normal physical findings at birth except for symmetric IUGR, apparently resulting from the placental trisomic cell lines. At delivery, chromosome analysis of 50 cells each from blood, placenta, and umbilical cord revealed 46,XX in all cells. FISH analysis of amniotic fluid cells (54 nuclei), peripheral blood (50 nuclei), umbilical cord fibroblasts (57 nuclei), and placental tissue (52 nuclei) demonstrated two signals in 200 nuclei (i.e., 46,XX) and three signals in 13 nuclei (i.e., 47,XX, + 3). At 11 months of age, the baby was progressing normally., Conclusion: A diagnosis of trisomy 3 mosaicism is problematic for patients and clinicians. This is only the third case of trisomy 3 mosaicism identified at amniocentesis. Ultrasound, PUBS, and evaluation of placental tissues and postnatal peripheral blood, were useful in providing information regarding the fetal involvement of trisomy 3. Additional cases of prenatally diagnosed mosaicism for rare trisomies are necessary to more accurately assess the significance of these findings., (Copyright (c) 2004 John Wiley & Sons, Ltd.)

Heterochromatic chromosome polymorphisms have been extensively reported. Most are associated with C-band positive regions located on chromosomes 1, 9, 16, and Y. We report a prenatal case of a rare heterochromatic variant on chromosome 4. Amniocentesis was performed on a 35-year-old white female for AMA. The karyotype was 46,XY,add(4)(q35)?. One chromosome 4 homolog had an additional dark band at the terminus of the long arm. Parental chromosome analyses revealed that the chromosome 4 was maternally inherited. The mother and fetus were both Q and C-band positive and NOR and DAPI Distamycin staining negative. FISH using Y, 4, and 9 whole chromosome paint (WCP), centromere probes for all chromosomes (Cytocell, Chromoprobe Multiprobe-I System, Rainbow Scientific, Inc., Windsor, CT), alpha-satellite probes for 13/21, 14/22 (D13Z1/D21Z1; D14Z1/D22Z1, Oncor, Gaithersburg, MD), and the 15 PWS/Angelman probe (LSI SNRPN, D15Z1, PML, Vysis, Inc., Downers Grove, IL) were negative. The TelVysion 4q telomere probe (D4S2930, Vysis, Inc.) was positive. A phenotypically normal male was born at 37 weeks. Follow up studies on placenta, cord, cord blood, and foreskin confirmed the prenatal results. Based on these findings, it appears that this chromosome 4 was a rare heterochromatic variant. Heterochromatic variants have been demonstrated to have no phenotypic effect on carriers. This case illustrates the importance of reporting unusual variant chromosomes for genetic counseling purposes. To the best of our knowledge, this is the first report of a heterochromatic variant involving part of the long arm of chromosome 4 in a phenotypically normal mother and child., (Copyright 2003 Wiley-Liss, Inc.)

Aim: The purpose of this retrospective study is to underline the indications for the use of systemic methotrexate (MTX) in tubal pregnancies., Methods: One hundred and four (n=104) consecutive women were treated in our Department for tubal pregnancy. The database analysis showed that after careful respect for inclusion criteria, the treatment chosen was the intravenous administration of MTX in 68 patients, whereas laparoscopy constituted the primary treatment in 36 patients. A single dose of MTX was intravenously administered, diluted in saline solution, with a dosage of 50 mg/m2 of body surface. Close serum beta-hCG monitoring was performed, and in the case of a short fall, a 2nd dose of methotrexate was submitted., Results: The overall success rate of MTX treatment was 91%; the 2nd dose of MTX was used in 12% of patients, whereas in only 6 out of 68 patients included in the medical treatment group a surgical approach for suspected tubal rupture was necessary., Conclusion: Treatment with methotrexate is effective and safe in the presence of these criteria: patient hemodynamically stable, absence of tubal rupture sign and hemoperitoneum, an adnexal mass with a diameter < or = 5 cm, an amenorrhea < or = 6 weeks and HCG levels < or = 10,000 mIU/ml. Laparoscopy is indicated in diagnostic uncertainty, when MTX is not suggested, when adnexal mass is > 5 cm, or in patients in which beta-hCG levels was > 10,000 mIU/ml.

Aim: We investigate the possibility to use ultrasound-guided aspiration and alcohol sclerosis in patients with endometrioma., Methods: Ten patients with endometriotic ovarian cysts, mean diameter <70 mm, CA125 <35 UI, persistence of cyst after medical therapy and refusal of surgical therapy have been studied. The patients were submitted to ultrasound-guided aspiration of endometriomas. Fifty per cent of aspirated fluid was replaced with pure ethanol, which was left in situ for 10 to 20 minutes. No medical therapy was employed after aspiration and ethanol treatment., Results: In 9 patients no recurrence was observed at ultrasound after 21.2+/-6.62 months of follow-up. In 1 case only, after 6 months, a recurrence of the endometrioma in the same site was observed., Conclusion: Ultrasound-guided alcoholic sclerotherapy of the endometriotic ovarian cysts is effective and safe. We speculate that this procedure could be indicated in patients refusing standard surgical therapy.

Background: The aim of this paper is to compare cesarean section according to Stark to cesarean section according to conventional technique in order to evaluate advantages and limits., Place: Second University of Study of Naples, Department of Obstetrics and Gynaecology, during the period from March 1996 to March 1999., Patients: One hundred and two cesarean sections according to Stark were performed. These interventions have been compared with others performed, during the same period, according to the conventional technique., Intervention: Comparison between cesarean section according to Stark and cesarean section according to conventional technique., Results: For each case, several parameters have been compared: extraction time, total time, number of suture threads, canalization time, blood loss and fetal Apgar., Conclusions: Cesarean section according to Stark is an evolution of the conventional surgical technique, which can be applied for particular indications such as maternal, fetal and anesthesiologic conditions.

The aim of the study is to report on the result achieved on uterus bicornate unicollis that after hysterosalpingography proved atypical in the isthmic section of the left horn because it was filiform and had irregular walls. The metroplasty technique was performed, applying the Jones technique, on a patient affected by infertility for six years, with uterine malformation. Hysterosalpingography evidenced an atypical malformation: a unicollis-bicornis uterus that was atypical in the isthmic section of the left horn, treated with the technique of Jones because it was filiform. Diagnostic laparoscopy visualized two symmetrical and separated horns. Metroplasty was performed applying Jones technique, by removing the isthmic miometrium of the left horn in order to widen the communication with the upper part. The result of postoperative hysterosalpingography, performed 10 months after intervention, showed a single uterine cavity with irregular walls that allowed the evolution of a pregnancy that was prematurely concluded after thirty-two weeks on the birth of a live, vital fetus. Infertility is probably associated with the complexity of uterine malformation. We can, therefore, underline that laparotomic metroplasty is an effective technique that can be performed in particular cases.

Trisomy 4 mosaicism is rare. To our knowledge only two cases of prenatally diagnosed trisomy 4 mosaicism have been reported. One case resulted in a normal liveborn male, the other resulted in an abnormal liveborn female. The karyotype of our case at the time of amniocentesis was 47,XY,+4[3]/ 46,XY[33] and resulted in a normal liveborn male. FISH analysis using an alpha satellite chromosome 4 probe was performed to confirm the cytogenetic findings. Follow-up chromosome analysis of cord blood, peripheral blood, foreskin, and umbilical cord fibroblasts showed a normal 46,XY male karyotype in all cells. FISH analysis of cord blood, umbilical cord fibroblasts, and amniotic fluid cells demonstrated two signals in 246 nuclei (i.e., 46,XY) and three signals in six nuclei (i.e., 47,XY,+4). Here we describe the present case of trisomy 4 mosaicism, the literature is reviewed, and the significance of this finding is discussed.

Background: The diagnostic accuracy of dilatation and curettage (D & C) was studied comparing retrospectively the results of histologic findings of D & C with the correspondent specimen from hysterectomy., Methods: During five years, at the Institute of Gynecology and Obstetrics, II University of Studies in Naples, 260 women underwent hysterectomy, 160 of which underwent D & C prior to hysterectomy. The histologic findings were classified in: a) physiological endometrium; b) hyperplasia; c) polyps; d) atrophia; e) adenomatous hyperplasia; f) adenocarcinoma. During the period January 1989-October 1993, 260 patients underwent hysterectomy. The age was between 32 and 65 years. The indications to the intervention were: menometrorrhagia, hypogastric pains, dysmenorrhea, metrorrhagia, genital prolapse, urinary incontinence, anemia. Two hundred-sixty patients underwent hysterectomy, 160 of which underwent D & C prior to hysterectomy. Curettage was performed using a right size curette after dilatation of the uterine cervix using Hegar's metallic dilatator. Patients were submitted to general anesthesia. Histologic tissues were fixed with formalin and were sent to the Institute of Anatomopathology for examinations., Results: The histologic results obtained by cavitary exploration have been compared with those reached by the analysis of the surgical samples. The results obtained confirm the reliability of D & C for the identification of endometrial lesions., Conclusions: Therefore, the diagnostic utility of cavitary exploration before hysterectomy is confirmed, particularly in selected cases.