Arie Drugan

SERKAL Syndrome: An Autosomal-Recessive Disorder Caused by a Loss-of-Function Mutation in WNT4

The WNT-signaling pathway plays a major role during mammalian embryogenesis. We report a novel autosomal-recessive syndrome that consists of female to male sex reversal and renal, adrenal, and lung dysgenesis and is associated with additional developmental defects. Using a candidate-gene approach, we identified a disease-causing homozygous missense mutation in the human WNT4 gene. The mutation was found to result in markedly reduced WNT4 mRNA levels in vivo and in vitro and to downregulate WNT4-dependent inhibition of beta-catenin degradation. Taken together with previous observations in animal models, the present data attribute a pivotal role to WNT4 signaling during organogenesis in humans.

The natural history of multiple pregnancies after assisted reproduction: is spontaneous fetal demise a clinically significant phenomenon?

OBJECTIVEnTo determine the rate of spontaneous fetal demise after heartbeats are demonstrated in multiple pregnancies conceived after IVF-ET.nnnDESIGNnRetrospective case series.nnnSETTINGnUniversity-based IVF-ET program.nnnPATIENTSnEighty-one patients in whom initial transvaginal ultrasound (US) study, performed at 5 to 6 weeks of gestation, identified more than one gestational sac. Total number of sacs was 191.nnnINTERVENTIONnPatients were followed by serial US examinations.nnnMAIN OUTCOME MEASUREnOutcome of pregnancies.nnnRESULTSnTwenty-four empty gestational sacs were identified in 21 patients, of whom 15 delivered, 2 miscarried, and 4 are currently ongoing beyond first trimester. Of the 167 initially viable embryos, 9 (5%) underwent spontaneous fetal demise. In 5 of these 9 pregnancies, initial US identified significant interfetal size variation.nnnCONCLUSIONSnThe rate of spontaneous fetal demise for a specific embryo in multiple gestation, after fetal heartbeats have been identified in early pregnancy, is 5%. This rate is similar to that seen in spontaneous conceptions. The chance of future fetal demise increases if first trimester interfetal size variation is significant.

Transvaginal embryo aspiration—a safe method for selective reduction in multiple pregnancies

OBJECTIVEnTo evaluate pregnancy outcome after transvaginal selective embryo aspiration and to compare the results with those reported previously with other techniques for selective abortion.nnnDESIGNnRetrospective case series.nnnSETTINGnUniversity-based in vitro fertilization (IVF) program.nnnPATIENTSnNineteen women with multiple pregnancy who conceived after ovulation induction or IVF/gamete intrafallopian transfer.nnnINTERVENTIONnTransvaginal ultrasound-guided aspiration of the embryo(s) was performed at 7 to 8 weeks of gestation.nnnMAIN OUTCOME MEASURESnEarly and late complications related to the procedure, outcome of pregnancy, and birth weight.nnnRESULTSnIn 18 cases, the initial number of embryos (3 to 7) was reduced to two. In 1 case, the number of embryos was reduced from 4 to 3. None of the remaining fetuses vanished after the procedure. One patient delivered at 25 weeks and all other patients delivered healthy, viable infants (a pregnancy loss rate of 5.3%).nnnCONCLUSIONSnTransvaginal embryo aspiration in early gestation appears to be a simple and relatively safe procedure for selective termination in patients with high-order multiple pregnancy. The cumulative loss rate of selective termination procedures previously reported by others is three times higher than the loss encountered in our series. This earlier procedure may be more acceptable to patients from emotional and religious points of view.

Reduction of the number of embryos in a multiple pregnancy: quintuplet to triplet

The technique for reduction of the number of embryos was applied in a patient who conceived following IVF and transfer of six embryos. On the 10th week of gestation, the number of embryos was reduced from five to three by an U/S-guided intra-uterine procedure. Two healthy girls and a boy were delivered in the 36th week by cesarean section. No trace of the other two fetuses was found. The moral and technical aspects of partial preventive termination of multiple pregnancy are discussed.

The Diagnostic Value of Serum Copper/Zinc Ratio in Gynecological Tumors

Abstract. Serum copper levels (SCu) and serum zinc levels (SZn) were determined on admission in 73 women hospitalized for suspected gynecological tumor. Twenty‐five of the women were subsequently found to have malignant tumor, while 48 had benign growths. The serum Cu/Zn ratio of the malignant group (2.13±0.53) was significantly (p<0.001) higher than that of the benign group (1.45±0.25). A good correlation was established between the Cu/Zn ratio and the stage of the malignant tumor. Serum copper level showed a linear correlation (R = 0.878) with serum ceruloplasmin values. These results indicate that the serum Cu/Zn ratio may be used as a valuable predictor of the presence of malignant gynecological tumor and its stage.

Ultrasound imaging of fetal neck anomalies: implications for the risk of aneuploidy and structural anomalies

This study summarizes 24u2009000 transvaginal ultrasound examinations which were performed in a predominantly low‐risk population at 14–16 weeks gestation. 1254 (5·2 per cent) fetuses had a nuchal fold or a non‐septated cystic hygroma. Of these fetuses, 140 (11·1 per cent) had additional structural anomalies. Cardiovascular anomalies were the most commonly detected structural malformations. Forty‐three (3·4 per cent) fetuses were aneuploid. Trisomy 21 was the most common chromosomal anomaly (n=27). Aneuploidy was significantly more common in fetuses who had a nuchal finding and an associated structural anomaly. The prevalence of nuchal fold and non‐septated cystic hygroma, as well as the incidence of their associated structural anomalies, was similar. Based on these data, it is concluded that a complete ultrasonic survey of the fetus and karyotyping are advocated in fetuses with a nuchal abnormality, irrespective of maternal age or triple serum screening results.

Postmenopausal Tubo-Ovarian Abscess

Tubo‐ovarian abscess in postmenopausal women is a distinct and rare entity. the disease is usually diagnosed on the operating table and its high rate of postoperative complications and mortality commands special attention. by presenting our experience with four cases of tubo‐ovarian abscess in postmenopausal women, we would like to re‐emphasize the importance of including this disease in the differential diagnosis of the surgeon and the gynecologist. Early laparotomy is essential to reduce morbidity and mortality.

Triplet pregnancies – a three-decade perspective: do we fare better?

OBJECTIVESnTo evaluate the impact of advances in perinatal and neonatal care in the past three decades on the outcome of triplet pregnancies.nnnSTUDY DESIGNnWe compared the outcome of 29 sets of triplets born in our medical center during 1978-1987 with 34 sets of triplets born in the same medical center during 2001-2011. Data were extracted from maternal and neonatal medical records.nnnRESULTSnThere were no significant differences in mortality or morbidity in any of the studied outcome measures between the two epochs. Of the 34 women with triplet pregnancies in the present cohort only 28 (82%) took all three born babies home, not different from the 86% found in the early cohort. The overall take-home baby rate was 93% (95/102) in the present cohort, not different than the 86% (74/86) in the early cohort.nnnCONCLUSIONSnDespite technological advances in perinatal and neonatal care, there was no significant improvement in the outcome of triplet pregnancies during the past three decades.

Changing dysmorphology of trisomy 18 during midtrimester.

A fetus affected by trisomy 18 was observed serially on ultrasound from 14 to 21 weeks of gestation. The earliest and sole dysmorphic feature noted at 14 weeks of gestation were nonseptated nuchal cysts. At 17 weeks the ultrasound examination was considered normal. However, at 21 weeks gestation, bilateral choroid plexus cysts, clubfoot, growth retardation and overlapping fingers were observed. These findings suggest that the dysmorphology associated with trisomy 18 is dynamic in nature and may change along the course of pregnancy.