Incidental detection of familial 8p23.2 microduplication encompassing CSMD1 associated with mosaic 46,XY,t(7;8)(q31.2;p23.1)/46,XY at amniocentesis in a pregnancy with no apparent phenotypic abnormality and a favorable outcome.

OBJECTIVE: We present incidental detection of familial 8p23.2 microduplication encompassing CSMD1 associated with mosaic 46,XY,t(7;8)(q31.2;p23.1)/46,XY at amniocentesis in a pregnancy with no apparent phenotypic abnormality and a favorable outcome. CASE REPORT: A 38-year-old, gravida 2, para 1, phenotypically normal woman underwent amniocentesis at 19 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 46,XY,t(7;8)(q31.2;p23.1)[2]/46,XY[20]. The parental karyotypes were normal. Array comparative genomic hybridization (aCGH) analysis on the DNA extracted from cultured amniocytes and parental bloods revealed the result of a 2.178-Mb 8p23.2 microduplication encompassing CSMD1, or arr 8p23.2 (3,070,237-5,248,586) × 3.0 [GRCh37 (hg19)] in the fetus and the mother. The father did not have such a microduplicaiton. Prenatal ultrasound findings were unremarkable. At 38 weeks of gestation, a 2880-g phenotypically normal male baby was delivered. All the cord blood, umbilical cord and placenta had the karyotype of 46.XY. When follow-up at age six months, the neonate was normal in phenotype and development. CONCLUSION: Mosaicism for a balanced reciprocal translocation with a euploid cell line can be a transient and benign condition. Familial 8p23.2 microduplication encompassing CSMD1 can be associated with a favorable outcome.

Effect of dienogest on serum anti-Mullerian hormone level after laparoscopic cystectomy of ovarian endometrioma.

OBJECTIVE: This comparative study aimed to evaluate the effect of postoperative dienogest treatment on serum anti-Mullerian hormone (AMH) levels in patients undergoing laparoscopic cystectomy of ovarian endometriomas. MATERIALS AND METHODS: A total of 71 patients with ovarian endometriomas treated at our department were enrolled. After surgery, 54 patients received oral dienogest 2 mg daily continuously for 6 months (dienogest group). The other 17 patients did not receive postoperative medical treatment (control group). Serum AMH levels were measured before surgery, at 3-month period after surgery, and at the end of 6-month follow-up period. Serial changes of AMH levels were compared between the two groups. RESULTS: The age, endometrioma size, and serum AMH level before surgery were comparable between the dienogest group and the control group. The AMH levels decreased significantly at 3-month period after surgery in the dienogest group (a decrease of 65.5%; p < 0.001) and the control group (a decrease of 64.8%; p = 0.018). The AMH levels increased gradually from the nadir at 3-month period after surgery and recovered partially at the end of 6-month follow-up period in both groups. There were no statistically significant differences in the rate of reduction of serum AMH levels between the two groups (p = 0.707). CONCLUSION: Laparoscopic cystectomy of ovarian endometrioma causes a significant decrease in serum AMH levels. The rates of reduction of AMH levels are similar regardless of dienogest treatment. Postoperative dienogest treatment for 6 months has no rescue effect on serum AMH levels in these patients.

Efficacy and safety of intravenous dexmedetomidine as an adjuvant to general anesthesia in gynecological surgeries: A systematic review and meta-analysis of randomized controlled trials.

This study investigated the efficacy and safety of intravenous dexmedetomidine as an adjuvant to general anesthesia in patients undergoing gynecological surgery. We systemically searched for randomized controlled trials (RCTs), and performed a meta-analysis on studies that met the inclusion criteria. The primary outcomes were postoperative nausea and vomiting (PONV), bradycardia, hypotension, and 24 h opioid consumption. The secondary outcomes include postoperative shivering, postoperative pain score, intraoperative anesthetic consumption, extubation time, postoperative sedation, and the time to first flatus. Twenty-five RCTs were included in this study. Meta-analysis showed that intravenous dexmedetomidine significantly reduced the risk of PONV (RR, 0.57 [0.47, 0.68]) and postoperative shivering (RR: 0.31 [0.22, 0.42]), 24 h opioid consumption (Mean Difference: - 4.85 mg [-8.60, -1.11]) and postoperative pain score within 24 h. However, these benefits were at the cost of increased bradycardia (RR, 3.21 [2.41, 4.28]) and hypotension (RR, 2.17 [1.50, 3.14]). Notably, no serious adverse effects were reported in any of the included studies. Thus, our study showed that intravenous dexmedetomidine provided significant antiemetic and anti-shivering effects and moderate analgesic effects in patients that underwent gynecological surgery. However, its benefits should be weighed against the significantly increased risk of bradycardia and hypotension.

Fecal Protein Analysis of Dusp6 Knockout C57BL/6J Mice by Metaproteomics.

The research of obesity and gut microbiota has been carried out for years, yet the study process was in a slow pace for several challenges to conquer. As a complex status of disorder, the contributing factors refer to gut microbiota about obesity were controversial in a wide range. In terms of proteomics, 2D-DIGE technology is a powerful method for this study to identify fecal proteins from lean microbiota in Dusp6 knockout C57BL/6J mice, exploring the protein markers of the ability resisting to diet-induced obesity (DIO) transferred to the host mice after fecal microbiota transplantation. The results showed that the fecal microbiota expressed 289 proteins differentially with 23 proteins identified, which were considered to be the reasons to assist the microbiota exhibiting distinct behavior. By means of proteomics technology, we had found that differentially expressed proteins of lean microbiota determined the lean microbial behavior might be able to resist leaky gut. To sum up our study, the proteomics strategies offered as a tool to demonstrate and analyze the features of lean microbiota, providing new speculations in the behavior about the gut microbiota reacting to DIO.

Limited efficacy with additional adverse effect of anti-adhesion barrier at primary cesarean section.

BACKGROUND/PURPOSE: In our experience, adhesion after the primary CS is generally minimal or nonexistent. However, adhesion barriers users have experienced more febrile episodes that may require therapeutic antibiotics during the postcesarean period. We evaluated clinical efficacy of HA-CMC and ORC to prevent adhesion at secondary CS and the post-operative outcome at primary and secondary CS. METHODS: This retrospective study includes 199 Asian women undergoing primary and secondary cesarean section between January1, 2011, and September 31, 2019. We used linear and logistic regression to analyze risk factors of postcesarean fever. An interaction term analysis was performed to examine the effect of surgical site infection risk factors and use of adhesion barrier on postcesarean fever rates. RESULTS: We found that use of adhesion barrier at the primary cesarean section is associated with a significantly higher incidence of postcesarean fever (p = 0.045), which is an independent risk factor of postcesarean fever (adjusted hazard ratio (Adj-HR)= 3.53, 95% CI = 1.03-10.24, p = 0.045). The strongest risk factor for postcesarean fever is the use of anti-adhesion film during emergency cesarean section (p = 0.041). In the subgroup of labor before operation and emergency cesarean section, adhesion barrier user had significant higher risk of postcesarean fever than nonuser (p = 0.018, Adj-HR = 12.12, 95% CI = 1.53-95.78; emergency cesarean section: p = 0.016, Adj-HR = 12.71, 95% CI = 1.62-99.62). CONCLUSION: Use of anti-adhesion films during emergency cases and with a significantly higher risk of postcesarean fever which potentially means increased risk of surgical site infection. Therefore, we do not suggest routine application of anti-adhesion films during cesarean deliveries especially in emergency cesarean section or in a woman having labor before operation.

Postoperative reproductive outcomes in women with ovarian pregnancy: A retrospective analysis.

OBJECTIVE: The reproductive outcomes of ovarian pregnancy are currently unknown. Therefore, the objective of our study was to report the pregnancy outcomes of women with laparoscopically treated ovarian pregnancy. MATERIALS AND METHODS: In this retrospective case analysis, unpublished cases of ovarian pregnancy between 2009 and 2016 were reviewed. Women were followed up for 3 years to obtain subsequent pregnancy data. RESULTS: A total of 21 women who intended to become pregnant were included in this study. Predisposing risk factors for ovarian pregnancy including previous pelvic surgery (23.81%), presentation of pelvic endometriosis (23.81%), and prior intrauterine device insertion (9.52%) were identified. The major symptom at presentation was abdominal pain (85.71%), and no preoperative sonographic diagnosis of ovarian pregnancy was identified. Laparoscopic wedge resection was performed in most women (90.48%). During the 3-year follow-up period, spontaneous intrauterine pregnancy was observed in 13 women (61.90%), 2 women (9.52%) became pregnant through artificial insemination treatment, and 6 women are not able to get pregnant (28.57%). None of the women experienced recurrent ectopic pregnancy. CONCLUSION: The postoperative pregnancy outcomes of women with ovarian pregnancy were encouraging. In this study, the spontaneous intrauterine pregnancy rate was favorable, and no cases of recurrent ectopic pregnancy were reported.

First-trimester abortion complicated with placenta accreta: A systematic review.

Placenta accreta is a potentially life-threatening condition that may complicate a first-trimester abortion in rare occasions, and it can be difficult to recognize. We reviewed the literature in PubMed-indexed English journals through August 2018 for first-trimester postabortal placenta accreta, after which 19 articles and 23 case reports were included. The risk factors for the development of abnormal placentation are previous cesarean section (87%), previous history of uterine curettage (43.5%), and previous history of surgical evacuation of a retained placenta (4.3%). Ten patients (43.5%) had an advanced age (≧35 years). Most patients clinically presented with vaginal bleeding, ranging from intermittent or irregular bleeding, persistent bleeding, and profuse or massive bleeding. The onset of symptoms might be during the intra- or immediate postoperative period. Some patients had delayed symptoms 1 week to 2 years postoperatively. Conservative management may be attempted as the primary rescue, including uterine artery embolization (UAE), transcatheter arterial chemoembolization (TACE) with dactinomycin, and laparoscopic hysterotomy with placental tissue removal. However, most reports in the literature suggested either abdominal or laparoscopic hysterectomy as the definitive treatment for first-trimester postabortal placenta accreta. High index of clinical suspicion with anticipation of placenta accreta in early pregnancy is highly essential for timely diagnosis, providing the physician better opportunities to promptly manage this emergent condition and improve outcomes.

Prenatal diagnosis and molecular cytogenetic characterization of low-level true mosaicism for trisomy 21 using uncultured amniocytes.

OBJECTIVE: We present a prenatal diagnosis and molecular cytogenetic characterization of low-level true mosaicism for trisomy 21 using uncultured amniocytes. CASE REPORT: A 35-year-old woman presented with a borderline-positive result of noninvasive prenatal testing for trisomy 21. She underwent amniocentesis at 18 weeks of gestation, which revealed a karyotype of 47,XY,+21(5)/46,XY(53). Repeat amniocentesis at 22 weeks of gestation revealed a karyotype of 47,XY,+21(6)/46,XY(26). Array comparative genomic hybridization (aCGH) analysis on uncultured amniocytes revealed mosaic levels of 10% to 15% for trisomy 21. Interphase fluorescence in situ hybridization (FISH) analysis on uncultured amniocytes revealed a mosaic level of 21.7% (28/129 cells) for trisomy 21. Following genetic counseling and detailed ultrasound examination, the parents decided to continue the pregnancy. The pregnancy was carried to term, and a normal 3664-g male baby was delivered. The cord blood lymphocytes had a karyotype of 47,XY,+21(2)/46,XY(38). Postnatal interphase FISH analysis of urine detected no trisomy 21 in all 39/39 urinary cells. The neonate was phenotypically normal at age 7 months. CONCLUSION: Low-level true mosaicism for trisomy 21 can be associated with a favorable fetal outcome. aCGH and interphase FISH analyses on uncultured amniocytes are useful for rapid confirmation of low-level true mosaicism for trisomy 21 at repeated amniocentesis.

Prenatal diagnosis and array comparative genomic hybridization characterization of trisomy 21 in a fetus associated with right congenital diaphragmatic hernia and a review of the literature of chromosomal abnormalities associated with congenital diaphragmatic hernia.

OBJECTIVE: Rapid genome-wide aneuploidy diagnosis using uncultured amniocytes and array comparative genomic hybridization (aCGH) is useful in pregnancy with abnormal ultrasound findings. The purpose of this report is to report a case of right congenital diaphragmatic hernia (CDH) associated with trisomy 21 diagnosed prenatally by aCGH and to review the literature of chromosomal abnormalities associated with CDH. CASE REPORT: A 29-year-old woman was referred for genetic counseling at 25 weeks of gestation because of fetal CDH. The pregnancy was uneventful until 25 weeks of gestation when level II ultrasound detected isolated right CDH. Ultrasound showed that the liver and gallbladder were located in the right hemithorax, and there was levocardia. Fetal magnetic resonance imaging confirmed the diagnosis of right CDH with the gallbladder and part of the liver appearing in the right hemithorax and the heart shifting to the left hemithorax. Amniocentesis was immediately performed. About 10 mL of amniotic fluid was sent for aCGH analysis by use of the DNA extracted from uncultured amniocytes, and 20 mL of amniotic fluid was sent for conventional cytogenetic analysis. aCGH analysis revealed the result of arr 21p11.2q22.3 (9,962,872-48,129,895) × 3, consistent with the diagnosis of trisomy 21. Conventional cytogenetics revealed a karyotype of 47,XY,+21. Postnatally, polymorphic DNA marker analysis using DNAs extracted from the placenta and parental bloods showed a heterozygous extra chromosome 21 of maternal origin consistent with the result of maternal meiosis I nondisjunction. CONCLUSION: Prenatal diagnosis of right CDH should raise a suspicion of chromosomal abnormalities especially trisomy 21 and the association of Morgagni hernia.

Laparoscopic management of ectopic pregnancies in unusual locations.

OBJECTIVE: The aim of this study was to evaluate the feasibility and efficacy of laparoscopic surgery for patients with ectopic pregnancies in unusual locations. MATERIALS AND METHODS: This is a retrospective case series of 31 patients from 6 weeks to 10 weeks postmenstrual who were referred for diagnosis and treatment and suspected of having an unruptured cesarean scar pregnancy (CSP) or cornual pregnancy (CP). The diagnosis was confirmed with transvaginal ultrasound, and all of the patients underwent laparoscopic management. RESULTS: A diagnosis of CSP or CP was confirmed in all of the patients during the laparoscopic procedure. None of the patients required conversion to laparotomy. The total operative time ranged from 40 minutes to 120 minutes. The total blood loss was limited, ranging from 30 mL to 200 mL. All of the women tolerated the operation well and had uneventful recoveries. CONCLUSION: When performed by a well-trained gynecologist, laparoscopy appears to be a reasonable alternative for the treatment of unruptured CSP or CP.

Leak-proof extracorporeal drainage for management of large ovarian tumors.

PURPOSE: To describe our experience with leak-proof extracorporeal drainage through a minilaparotomy for management of large ovarian tumors. METHODS: Twenty patients who had presumed benign ovarian tumors larger than 10 cm were selected to undergo this technique. A 4 cm skin incision was made transversely above the symphysis pubis. After application of a self-retaining wound retractor, a polyurethane membrane was firmly affixed to the tumor surface by 2-octylcyanoacrylate adhesive. Most cyst contents were aspirated by a suction tube and the deflated ovary was exteriorized and excised extracorporeally. RESULTS: The median age and median BMI of the patients were 34 years and 23.2, respectively. The maximum tumor diameter varied from 10 to 26 cm (median 15 cm). This technique was successfully administered to 18 patients. The incision was extended to 7 cm in the most obese patient. The procedure was converted to a laparotomy in one patient with severe pelvic adhesion. The median aspiration volume was 800 mL and the median operative time was 80 min. There was no intra-abdominal leakage of tumor contents in all patients. The procedure was converted to laparoscopic fertility-preserving staging operation in two patients with borderline ovarian tumors. The other pathologic diagnoses were six mucinous cystadenomas, six dermoid cysts, three serous cystadenomas, one simple cyst, one corpus luteal cyst, and one endometrioma. CONCLUSIONS: Minilaparotomy with leak-proof extracorporeal drainage using cyanoacrylate adhesive and polyurethane membrane is reliable, safe, and feasible for management of large ovarian tumors with low probability of malignancy in selected patients.

Rapid aneuploidy diagnosis by multiplex ligation-dependent probe amplification and array comparative genomic hybridization in pregnancy with major congenital malformations.

OBJECTIVE: To report five cases of major congenital malformations associated with common aneuploidies detected by rapid aneuploidy diagnosis. CASE REPORTS: The fetus in the first case presented cebocephaly, semilobar holoprosencephaly, and tetralogy of Fallot on ultrasound at 25 gestational weeks. Cordocentesis using multiplex ligation-dependent probe amplification to detect aneuploidies of chromosomes X, Y, 13, 18, and 21 in uncultured cord blood revealed three copies of all targets on chromosome 13 consistent with the diagnosis of trisomy 13. The fetus in the second case presented bilateral choroid plexus cysts, congenital diaphragmatic hernia, and club foot on ultrasound at 18 gestational weeks. Amniocentesis using array-based comparative genomic hybridization (aCGH) in uncultured amniocytes revealed a gain in the DNA dosage of chromosome 18 consistent with the diagnosis of trisomy 18. The fetus in the third case presented aortic stenosis and nuchal edema on ultrasound at 22 gestational weeks. Amniocentesis using aCGH in uncultured amniocytes revealed a result of monosomy X and Turner syndrome. The fetus in the fourth case presented nuchal cystic hygroma and ventriculomegaly on ultrasound at 17 gestational weeks. Amniocentesis using aCGH in uncultured amniocytes revealed a gain in the DNA dosage of chromosome 21 consistent with the diagnosis of trisomy 21. The fetus in the fifth case presented holoprosencephaly, omphalocele, and hydronephrosis on ultrasound at 17 gestational weeks. Amniocentesis using aCGH in uncultured amniocytes revealed a gain in the DNA dosage of chromosome 13 consistent with the diagnosis of trisomy 13. CONCLUSIONS: Prenatal diagnosis of major congenital malformations should alert one to the possibility of chromosomal abnormalities. Multiplex ligation-dependent probe amplification and aCGH have the advantage of rapid aneuploidy diagnosis of common aneuploidies in cases with major congenital malformations.

Laparoscopic management of placenta increta after late first-trimester dilation and evacuation manifesting as an unusual uterine mass.

Placenta increta is a rare and potentially life-threatening complication of pregnancy. The initial symptoms are generally vaginal bleeding during difficult placental removal in the third trimester. However, placenta increta may complicate first- and early second-trimester pregnancy loss. The diagnosis may be difficult during early pregnancy because the lesion is difficult to identify. Herein is reported the case of a woman with a diagnosis of placenta increta that caused prolonged bleeding after a late first-trimester abortion and manifested as an unusual lower segment uterine mass. Management included laparoscopy, and the placental tissue was completely removed successfully and uneventfully.

Obstetric uterine rupture of the unscarred uterus: a twenty-year clinical analysis.

BACKGROUND: Rupture of the unscarred uterus is a rare and potentially catastrophic event. We retrospectively reviewed the records of patients with this condition to analyze their obstetric and gynecologic history and evaluate maternal and perinatal morbidity and mortality. METHODS: A total of 11 cases of rupture of the unscarred gravid uterus were managed at Mackay Memorial Hospital from January 1984 to September 2003. Data extracted from the records included the use of uterine stimulants, instrumental delivery, and prior abortion by instrumentation, clinical features, treatment, and maternal and fetal morbidity and mortality. RESULTS: The incidence of unscarred uterine rupture is 0.009% during the 20-year study period. The most common contributing factors were prior abortion by instrumentation and the use of uterotonic agents, in three cases respectively. Fetal distress occurred in six cases and postpartum hemorrhage in two. There was no maternal death, but in two cases, there was intrauterine fetal demise or perinatal death. CONCLUSION: Though unexpected in a woman with an unscarred uterus, rupture should be considered as a possible cause of fetal distress or unusual pain or hypotension in the mother.

Laparoscopic management of an ectopic pregnancy in a lower segment cesarean section scar: a review and case report.

Implantation of a pregnancy within the scar of a previous cesarean delivery is the rarest of ectopic pregnancy locations, with only 32 cases reported in the English-language medical literature. A 28-year-old woman was admitted to our institution with a suspected ectopic pregnancy located in the scar from a previous cesarean section. Ultrasound revealed a well-encapsulated, bulging mass with a gestational sac within the anterior uterine isthmus in the site of an old cesarean delivery scar. Laparoscopy was performed to confirm the diagnosis, and the gestational products also were removed laparoscopically. The defect in the uterus was then repaired by suturing. Total operative time was 120 minutes, blood loss was limited, and no transfusion was needed. Laparoscopy may be a reasonable alternative to laparotomy for an unruptured ectopic pregnancy in a cesarean scar.

Risk factors for failure of transvaginal sacrospinous uterine suspension in the treatment of uterovaginal prolapse.

BACKGROUND AND PURPOSE: The purpose of this study was to elucidate the risk factors for failure of transvaginal sacrospinous uterine suspension (SSUS) in the treatment of uterine prolapse and to examine methods for controlling these risk factors. METHODS: Sixty patients with second degree uterine prolapse or greater were included in this 2-stage study, with 33 in the risk factor assessment and 27 in the clinical study of a modified treatment to eliminate identified risk factors. Patients were followed for at least 5 years. The first part of the study evaluated the risk factors for operative failure and the efficacy of the operative procedure. The second part of the study evaluated a modified treatment plan to eliminate risk factors identified in the first part of the study. RESULTS: The failure rate for those with an elongated cervix (3 of 4, 75%) and those with third degree uterine prolapse (3 of 4, 75%) was significantly higher than for patients without either of these risk factors (6.9%, 2/29) [p = 0.007]. Concomitant partial trachelectomy for those with elongated cervix significantly reduced the failure rate from 75% to 0% (0/7) [p = 0.024]. In the risk factor study, SSUS was successful in 84.8% (28/33) of patients. In the clinical study of modified therapy to prevent significant risk factors, the success rate was 96.3% (26/27). CONCLUSIONS: This study found that an elongated cervix and third degree uterine prolapse were the 2 main risk factors for recurrent uterine prolapse after SSUS. Concomitant partial trachelectomy as an adjuvant treatment of SSUS for treatment of uterovaginal prolapse in patients with an elongated cervix significantly reduces the rate of failure in these patients.