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.

Trisomy 9 confined to the placenta: prenatal diagnosis and neonatal follow-up.

Chorionic villus sampling (CVS), performed on a woman in the 23rd menstrual week because of bilateral fetal hydronephrosis and suspected intrauterine growth retardation (IUGR), documented trisomy 9 in all cells examined. Chromosomes of amniocytes and fetal blood lymphocytes were normal. The ongoing pregnancy was monitored closely, and at 37 weeks, a phenotypic normal male infant was delivered. Multiple placental biopsies showed 47,XY,+9, while a repeat chromosome analysis of the infant and biopsies from the amniotic membrane were normal (46,XY). This case further emphasizes the association between placental aneuploidy and IUGR. To our knowledge, nonmosaic trisomy 9 in CVS confined to the chorionic villi and later confirmed in the placenta has not been reported previously.

Nonimmune hydrops fetalis may be associated with an elevated delta OD450 in the amniotic fluid.

Nonimmune hydrops fetalis may be associated with an elevated amniotic fluid delta OD450. Cases of I-cell disease (mucolipidosis II), lethal multiple pterygium syndrome, and alpha-thalassemia are presented, each associated with nonimmune hydrops fetalis and an elevated delta OD450. An elevated delta OD450 does not always indicate isoimmunization, and may be due to increased red blood cell turnover for a variety of reasons associated with nonimmune hydrops fetalis.

Nifedipine in the treatment of severe preeclampsia.

We conducted a randomized clinical trial in which patients with severe preeclampsia between 26-36 weeks of gestation received either nifedipine (10-30 mg sublingually, then 40-120 mg/day orally; N = 24) or hydralazine (6.25-12.5 mg intravenously, then 80-120 mg/day orally; N = 25). Effective control of blood pressure was achieved with nifedipine in 95.8% of subjects and with hydralazine in 68%, a statistically significant difference (P less than .05). Maternal side effects were minor in both groups. Acute fetal distress developed in one nifedipine subject and in 11 treated with hydralazine. Mean prolongation of gestation was 15.5 +/- 10 days with nifedipine and 9.5 +/- 11 days with hydralazine, a difference that did not reach statistical significance (P less than .07). Infants born to women treated with nifedipine were delivered at more advanced gestational ages (34.6 +/- 2.3 versus 33.6 +/- 2.4 weeks; statistically not significant), weighed more (1826 +/- 456 versus 1580 +/- 499 g; statistically not significant), and tended to have fewer, mainly minor, complications. The average number of days spent in the neonatal intensive care unit was significantly lower in the nifedipine group (15.1 versus 32.7 days; P less than .005), leading to an average 31% reduction in total (maternal and neonatal) hospitalization-related charges for each nifedipine-treated pregnancy. We conclude that nifedipine is an effective, convenient, and low-cost treatment for patients with severe preeclampsia, and is not associated with undesirable side effects.

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.

The influence of midtrimester termination of pregnancy on subsequent fertility: four to five years follow-up.

A four to five years follow-up upon subsequent fertility was performed on 46 women who underwent a midtrimester termination of pregnancy. Thirty out of 31 (96.8%) women who wanted to conceive became pregnant. Of those, term delivery rate was 73.3%. Only one woman who desired to conceive could not become pregnant. Her infertility workup revealed bilateral occlusion of tubes. We conclude that termination of pregnancy in midtrimester possibly has little, if any, impact upon subsequent fertility.

PIP: In Israel, obstetrician-gynecologists examined the charts of 64 women who underwent midtrimester abortion at Kaplan Hospital in Rehovot between July 1988 and November 1989 to determine whether or not the abortion affected subsequent fertility 4-5 years after the operation. 14 of the women (21.9%) did not want to conceive. 96.8% of the women who wanted to conceive did so. 73.3% of these women delivered a full-term infant. One woman who wished to conceive could not because of bilateral occlusion of tubes. After her uterus had expelled the conceptus 4-5 years earlier, physicians performed curettage. She claimed to have had no history of pelvic inflammatory disease after the abortion. None of the women had subsequent cervical incompetence. These findings suggest that termination of midtrimester pregnancy had little or no effect on subsequent fertility. Further research is needed, however, with larger cohorts of women to confirm the association between midtrimester termination of pregnancy and subsequent fertility.

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.

Aspiration of ectopic pregnancy under guidance of vaginal ultrasonography.

This case report describes the treatment of tubal pregnancy by aspiration of the gestational sac content and injection of methotrexate by transvaginal sonographic guidance. The confirmation of the embryo aspiration as indicated by disappearance of the embryo with its heart beat and the resulting 46,XY karyotype, raises the question whether methotrexate injection is necessary.

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.

Fluorescent in-situ hybridization (FISH) as an aid to marker chromosome identification in prenatal diagnosis.

Five cases of supernumerary marker chromosomes were identified in prenatal diagnosis as derived from chromosomes 18, X, and Y. One unexpected finding was in a case where the PCR was positive for the SRY gene while fluorescence in situ hybridization was positive for two X centromeres. In another case with an X derived supernumerary marker the newborn was phenotypically normal. Two women with fetal mar(18) and mar(Xp) decided to terminate the pregnancy. The fifth pregnancy had a karyotype of 46,XX,-15,+der(15)t(Y:15)(q11,23;p13). A phenotypically normal girl was born at term.

Indications and results of metroplasty in uterine malformations.

During 14 years, 430 women with some type of congenital uterine malformation were discovered by different methods, with a rate of 1 in 137 deliveries. In only 17 was metroplasty indicated, because of very poor reproductive performance; out of 42 desired pregnancies, only 14.3% live births resulted. The abortion rate was 65.2%, and there were 13% premature deliveries. The operations performed included the Strassmann type in 13, the Tompkins technique in three and the Jones operation in one. After the metroplasty, out of 27 completed pregnancies the rate of abortions fell in 14.8% (P less than 0.00003) and the rate of live births rose to 85.2% (P less than 0.00003). There is no doubt that when the indication for metroplasty is strictly imposed, the staff is well versed in the different types of operations and the treatment is done in a center which has acquired competence, the improvement in reproductive performance can be quite impressive.

Severe hemolytic disease of the newborn due to anti-c.

Two cases of severe hemolytic disease of the newborn due to c-isoimmunization are presented. Both women were multiparous, had previous blood transfusion and high maternal titers of anti-c (1:1024 and 1:4036, respectively).

Preoperative sonography in detecting small benign cystic teratomas.

Identification of small ovarian benign cystic teratomas (dermoid cysts) is difficult and sometimes impossible by clinical findings alone. They may be missed even on direct inspection during laparotomy or laparoscopy. There are several typical ovarian sonographic signs which are known to occur frequently in women with benign ovarian cystic teratomas. High-resolution sonography can identify the cysts based on their typical sonographic signs. Since these very small dermoid cysts are sometimes undetected by the naked eye during the operation, ultrasonography with particular attention to the signs is very important. We present three cases reports that illustrate the problem and stress the contribution of preoperative sonography in the diagnosis and treatment of such cases.

Curettage after midtrimester termination of pregnancy. Is it necessary?

We conducted a prospective study to assess the need for curettage after spontaneous expulsion of the placenta in midtrimester termination of pregnancy. The rate of early complications (9.4%) was consistent with previously reported data. A higher incidence of intrauterine adhesions, detected on hysteroscopy, was observed in patients who underwent curettage (38.5% vs. 7.7%, P = .0727). In order to prevent intrauterine adhesions, curettage should be restricted to cases in which retained products of conception are suspected. It should not be performed routinely in every case of midtrimester termination of pregnancy after spontaneous expulsion of the placenta.

[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.

[Chorionic villi sampling: choice of transcervical or transabdominal routes preferable to use of transcervical route exclusively].

Between November 1985 and June 1990 we performed 400 first trimester chorionic villi samplings (CVS). In the first 107 cases only transcervical CVS was performed, regardless of placental location. Later, 163 transcervical and 130 transabdominal CVS were performed, depending on placental location. Anterior and fundal placentas were approached transabdominally and posterior placentas transcervically. Multiple pregnancies were excluded. Successful results were obtained in 394 out of 400 cases. There were 5 failures in the first set of cases and 1 in the second (p < 0.05). In 14 cases (3.5%) fetuses with normal karyotypes were spontaneously aborted, 5 of these in the first period (4.7%) and 9 (3.1%) in the second. The spontaneous abortions in the second period followed transabdominal CVS in 4 cases out of 130 (3.1%) and the transcervical route in 5 cases out of 163 (3.105%). The average attempts per case in the first period was 1.44 (SD 0.66) while in the second it was 1.17 (SD 0.44, p < 0.0001) for the transcervical route and 1.06 (SD 0.2, p < 0.002) for the transabdominal route. In our experience choosing between transabdominal and transcervical CVS according to placental location is preferable to the sole use of transcervical CVS in terms of lower failure rate and fewer attempts per case. Proficiency in both techniques is mandatory for optimal results.