A prevalent Y;15 translocation in the Ethiopian Beta Israel community in Israel.

We describe 7 cases of abnormal karyotypes involving chromosomes Y and 15 in Ethiopian Beta Israel patients: 46,XX, der(15)t(Y;15)(q12;p12) and 46,XY,der(15)t(Y;15)(q12;p12). Six cases were incidentally found in amniocentesis performed for various indications; the indication for karyotyping in 1 case was recurrent abortions. To the best of our knowledge, this is the first report of this translocation in a specific ethnic group. We conclude that the derivative chromosome 15 with chromosome Y is probably a normal variant in Ethiopian Beta Israel occurring at an estimated frequency of 4/74 (5.4%). The prenatal diagnosis of this translocation in this population probably does not require further parental testing.

Dependence of maternal serum [AFP]/[hCG] median ratios on age of gestation: comparison of trisomy 21 to euploid pregnancies.

BACKGROUND: Current risk calculations for trisomy 21, which are based on multiples of median (MoM), do not take into account possible differences between euploid and trisomy 21 pregnancies that may develop with gestational age. In order to optimize the predictive value of screening tests, we calculated the ratio between maternal serum concentration of alpha-fetoprotein (AFP) and that of human chorionic gonadotropin (hCG) in euploid and in trisomy 21 pregnancies. METHODS: The medians of the concentration ratios, [AFP]/[hCG] at 16-21 weeks of gestation, were plotted as a function of gestational age for 307 cases of trisomy 21 and were compared with the medians of 30 549 normal karyotype cases. RESULTS: [AFP]/[hCG] ratio medians were independent of body weight and maternal age. There was a significant difference in the [AFP]/[hCG] ratio when comparing trisomy 21 and euploid pregnancies at each week. This difference became greater with advancing gestational age (P < 0.01). CONCLUSION: There is a significant difference in ratios of [AFP]/[hCG] between euploid and trisomy 21 pregnancies, which may be used to improve detection rates of Down syndrome screening.

Alcohol sclerotherapy for successful treatment of focal adenomyosis: a case report.

Adenomyosis is characterized by the presence of ectopic endometrial tissue within the myometrium. Treatment options range from use of non-steroidal anti-inflammatory drugs and hormonal suppression for symptomatic relief, to endometrial ablation or even hysterectomy. We report a case of successful ultrasound-guided aspiration of focal adenomyosis with intracavitary alcohol instillation in a patient with a recurrent intramural uterine lesion. This is the first report of the treatment of sclerotherapy by alcohol instillation, which may be considered as a reasonable alternative modality in treating rare cases of symptomatic adenomyosis. Published by John Wiley & Sons, Ltd.

Prenatal manifestation of superior mesenteric artery syndrome.

Intestinal obstruction is not a rarity in the newborn. Its etiology is diverse. Superior mesenteric artery syndrome (SMAS) is a phenomenon in which the duodenum is obstructed by the SMA. This causes bowel obstruction accompanied by duodenal dilatation. It has previously been described in adults and children but rarely in infants. We report for the first time on an intrauterine manifestation of SMAS.

A possible genetic factor in the pathogenesis of ovarian dermoid cysts.

This study was undertaken in order to evaluate a possible genetic influence on the pathogenesis of ovarian dermoid cysts. We have performed a case-control study comparing the prevalence of a history of dermoid cysts in first-degree relatives of women with dermoid cysts and among first-degree relatives of women without dermoid cysts. The study group included 285 women with an established diagnosis of ovarian dermoid cysts. The control group included 378 women with sonographically normal ovaries. To assess the relationship between a first-degree family history of dermoid cysts and the diagnosis of ovarian dermoid cysts, a multivariate stepwise logistic regression model was applied. In 28 families of the study group (9.8%), a dermoid cyst was found in at least 1 first-degree relative as compared with only eight families (2%) among the controls (adjusted odds ratio -5.60; 95% CI 2.24-14.2). The data suggest a genetic predisposition towards dermoid cysts which merits further exploration.

The contribution of transvaginal ultrasound in the diagnosis of acute appendicitis: an observational study.

OBJECTIVE: To assess the contribution of transvaginal and transabdominal sonography in the diagnosis of acute appendicitis. METHODS: The study group included female patients in whom acute appendicitis was diagnosed preoperatively by ultrasound and confirmed by histology. Each patient was examined by transabdominal (TAS) and transvaginal (TVS) sonography. The contribution of both approaches to the diagnosis of acute appendicitis was assessed. RESULTS: Acute appendicitis was diagnosed sonographically in 38 women. In all of them the diagnosis was confirmed histologically. All patients had both TAS and TVS. In 16 (42%) patients the inflamed appendix was detected by both approaches, in 13 (34%) only by the transabdominal route and in nine (24%) only transvaginally. Thus, TAS detected only 76% of the cases and TVS added 24%. CONCLUSION: The use of TVS in conjunction with TAS seems to improve the detection rate of acute appendicitis.

A 47,XXY fetus conceived after ICSI of spermatozoa from a patient with non-mosaic Klinefelter's syndrome: case report.

The birth of 12 healthy infants to fathers with non-mosaic Klinefelter's syndrome has been reported so far. The spermatozoa for these pregnancies was obtained from frozen-thawed ejaculate in one pregnancy (twins) and from the testis in the remaining 10 infants. All of them had a normal karyotype. We describe a patient with non-mosaic Klinefelter's syndrome from whom a testicular biopsy was obtained and motile spermatozoa were collected. Of 16 oocytes that were injected, 14 fertilized and cleaved. Three embryos were transferred, resulting in a triplet pregnancy. Karyotype analysis from chorionic villous sampling revealed 46,XX, 46,XY and 46,XXY from the three fetuses. The affected 46,XXY fetus was reduced on the 14th gestational week. The pregnancy culminated with the birth of a healthy male and female, on the 36th gestational week, weighing 3600 and 2660 g respectively. This case report proves the presence of hyperploid spermatozoa in the seminiferous lumen, and strengthens the necessity of genetic diagnosis of the embryos or fetuses in such pregnancies to fathers with non-mosaic Klinefelter's syndrome.

The bright edge of the endometrial polyp.

OBJECTIVE: To evaluate the accuracy of sonographic detection of endometrial polyps using a new ultrasound marker denoted 'the bright edge of the polyp'. METHODS: The ultrasound scans of the uterus were examined for the presence of the bright edge in two groups of women. The first, a retrospective group, included 40 women in whom both a histological diagnosis of endometrial polyps and sonographic scans were available for evaluation. The second, a prospective group, included 80 women scheduled for operative hysteroscopy because of endometrial irregularities detected by sonography. In this group the hysteroscopical and histological results of the removed endometrial tissue were correlated with the sonographic diagnosis. RESULTS: In the retrospective group, the bright edge marker, indicative of the presence of a polyp, was detected in 30 out of 40 scans available for evaluation. In the prospective group this marker was detected in 60 women out of 80. Endometrial polyps were confirmed in 56 of these 60 women. In three cases a submucosal myoma was found and in one case the histology showed simple cystic hyperplasia. Two polyps were found in 20 cases where the bright edge had not been detected. This marker has a sensitivity of 96%, specificity of 82%, positive predictive value of 93%, and negative predictive value of 90% in this group at high risk for endometrial abnormalities. CONCLUSION: The bright edge of the polyp is an accurate sonographic marker for the detection of endometrial polyps in women with endometrial irregularities demonstrated on ultrasound.

Conservative management of ovarian cystic teratoma during pregnancy and labor.

OBJECTIVE: Our goal was to evaluate the adequacy of conservative management during pregnancy and labor in women with an ultrasonographically diagnosed ovarian cystic teratoma. STUDY DESIGN: Forty-nine women with ultrasonographically diagnosed ovarian cystic teratoma <6 cm were followed for detection of possible complications through pregnancy and labor. Serial ultrasonographic examinations before pregnancy, during pregnancy, and after delivery were performed to detect changes in the size of the cystic teratoma. RESULTS: In a group of 49 women with dermoid cysts (mean age, 30 years), 68 pregnancies resulted. Of the 68 pregnancies, 4 ended in miscarriages, 1 was electively terminated, and in the remaining 63 pregnancies, a total of 64 healthy infants were delivered. Five patients needed treatment with assisted reproductive techniques. Fifty-five pregnancies ended in normal vaginal deliveries and 8 were delivered by cesarean (cesarean delivery rate of 16%). None of the classical complications attributed to dermoid cysts such as torsion, dystocia, or rupture occurred in the study group. In a follow-up of 56 dermoid cysts throughout pregnancy, cyst size remained unchanged. CONCLUSIONS: Ovarian dermoid cysts <6 cm are not expected to grow during pregnancy or to cause complications in pregnancy and labor.

Aspiration of simple pelvic cysts during pregnancy.

Traditional management of persistent ovarian cysts in pregnancy is explorative laparotomy at 16-20 weeks of gestation and resection of the tumor. Scheduling surgery to this time of pregnancy is accepted in order to prevent abortions that are common whenever surgery is done in the first trimester, without delaying treatment of ovarian tumors which harbor a malignant potential. In the following article we report of 10 cases where simple ovarian cysts diagnosed during pregnancy were successfully treated by sonographically guided cyst aspiration. This new approach is justified with no fear of missing a malignant ovarian tumor due to strict ultrasonic characteristics of benign cysts that include unilocular simple appearing cyst with no solid echogenic parts, septations or papillary structures. For 5 of the 10 women undergoing aspiration, this constituted the definitive treatment, while the remaining 5 were later operated. We conclude that aspiration of simple cysts during pregnancy is safe, may save surgical intervention and in some cases this will be the definitive treatment.

Diagnosis of abdominal tuberculosis by transabdominal ultrasound-guided needle biopsy.

Laparotomy and laparoscopy have been used for biopsy of pelvic masses in the differential diagnosis between abdominal tuberculosis and ovarian cancer. We suggest the use of transabdominal needle biopsy under ultrasound guidance in such cases. Two women developed abdominal distention, one of whom had been receiving medical treatment for known tuberculosis. In both cases, ultrasonography showed a pelvic mass and ascites associated with high levels of CA 125. A transabdominal ultrasonographically-guided biopsy of the masses with a trucut needle established their tuberculous origin. The transabdominal sonographic needle biopsy is a reliable diagnostic procedure in the differential diagnosis between abdominal tuberculosis and ovarian malignancy. This minimally invasive procedure saves the patient with tuberculosis from unnecessary laparotomy.

Chorionic villus sampling in multiple pregnancies.

OBJECTIVE: To evaluate the accuracy and risk of chorionic villus sampling (CVS) for prenatal diagnosis in multiple pregnancies. METHOD: Twenty-eight chorionic villus samplings were carried out in a group of women with twin pregnancies. A transabdominal route was chosen in 24 samplings and the rest (four samplings) were carried out in a transcervical route. In the group of women with triple pregnancies, 14 tests were performed in a transabdominal route and one in a transcervical route. RESULTS: No sampling failure occurred. One laboratory failure occurred in a triplet pregnancy, and one abnormal karyotype (47,xy+18) was found in the group of 28 twin fetuses. The rest of the fetuses in this group had normal karyotypes. Of the five triplets, two chromosomal abnormalities were diagnosed: a mosaic 46,xy/47,xxy was found in both cases. One fetus was affected by fragile -x syndrome. Selective reduction of the affected fetuses was carried out. There was no spontaneous fetal loss. Fetuses which were found to have normal prenatal tests were also found to be normal when born. CONCLUSION: In this relatively small series of CVS in twins and triplets, the procedure has been proven to be safe and reliable for prenatal diagnosis.

The growth pattern of ovarian dermoid cysts: a prospective study in premenopausal and postmenopausal women.

OBJECTIVE: To evaluate prospectively the evolution of ovarian dermoid cysts and the safety of nonsurgical management in premenopausal women. DESIGN: A prospective study. SETTING: Tertiary hospital-based ultrasonographic unit. PATIENT(S): Between 1985 and 1994, 72 premenopausal and 14 postmenopausal women had ovarian dermoid cysts < 6 cm in diameter diagnosed by ultrasound and were followed up at Kaplan Medical Center in Israel. INTERVENTION(S): Ultrasound examination was scheduled at 3 and 9 months after the initial diagnosis and then annually. Every cyst was measured in three planes. The growth rate of the cysts was calculated from the data gathered. MAIN OUTCOME MEASURE(S): Prospective evaluation of the evolution of dermoid cysts and the safety of nonsurgical management in premenopausal women by an ultrasonographic follow-up. RESULT(S): For the premenopausal and postmenopausal women, the mean age (+/-SD) at diagnosis was 32.3 +/- 8.2 and 61.1 +/- 6.9 years, the mean duration of follow-up was 34.5 +/- 21.6 and 35.3 +/- 26.8 months, the mean cyst size at diagnosis was 3.7 +/- 1.2 and 4.1 +/- 1.5 cm, and the calculated mean growth rate was 1.77 +/- 3.86 and -1.59 +/- 2.48 mm/y, respectively. The difference in the mean growth rate of the cysts between the two groups was statistically significant. The mean growth rate was significantly different from zero in the premenopausal group but not in the postmenopausal group. Twenty-eight women were delivered of 35 healthy infants without complications attributable to the dermoid cysts. The cysts were removed surgically in 24 of the 86 women (27.9%), and benign cystic teratomas were confirmed by histologic examination in all cases. CONCLUSION(S): Premenopausal women with ovarian dermoid cysts of < 6 cm in diameter can be safely managed expectantly, especially if pregnancy is desired. The mean growth rate of dermoid cysts in premenopausal women is 1.8 mm/y.

[Chorionic villus sampling in multiple pregnancies].

Prenatal genetic diagnosis is recommended in multiple pregnancies because of the increased prevalence of genetic abnormalities in such fetuses. It can be done early by chorionic villus sampling or later by amniocentesis. Several studies have demonstrated the efficacy and safety of chorionic villus sampling in multiple pregnancies. Our study describes the results of this method in a twin pregnancy and in 3 triplet pregnancies, which represent 3% of the chorionic villus samplings performed in our ultrasound unit during 1989-95. All genetically deformed fetuses in these pregnancies were identified by chorionic villus sampling and the method was not associated with fetal loss. Our results confirm the safety and efficacy of chorionic villus sampling as expressed in the world literature.

Sonographic evaluation of the uterus in postmenopausal women receiving tamoxifen: characterization of mid-uterine abnormalities.

BACKGROUND: Tamoxifen is known to exert agonist estrogenic effects on the uterus. Its use in postmenopausal women has also been associated with various endometrial and uterine abnormalities that can be detected by endovaginal sonography. OBJECTIVE: To study postmenopausal patients receiving tamoxifen who were referred for evaluation following the detection of abnormal uterine findings by endovaginal sonography. METHODS: Fifty-two women treated with tamoxifen for breast cancer who were found to have an abnormal uterine sonogram constituted the study population. Uterine sonograms were reviewed and clinical and sonographic data were correlated with the results of the histologic examinations. RESULTS: Forty-five women demonstrated a thickened mid-uterine structure. Of these, in thirty-nine patients (87%) either no tissue of scant fragments of normal endometrium were obtained on curettage, and six women (13%) had endometrial hyperplasia. Seven women had fluid loculation lined by thin endometrium. Their subsequent histologic examination was normal. The sonograms of the women who demonstrated an appearance of a thickened endometrium but no neoplasia, characteristically demonstrated hyperechogenic cystic area with no midline echo. CONCLUSIONS: Among 52 postmenopausal patients receiving tamoxifen presented with an abnormal uterine sonogram, 39 (75%) women were found to have a thick mid-uterine structure resembling a thickened endometrium without histologic evidence of neoplasia. This phenomenon can be characterized by typical sonographic features, and may be differentiated from other uterine abnormalities.