Taiwanese Journal of Obstetrics and Gynecology

Tuberculosis peritonitis

Hsu-Dong Sun, Ben-Shian Huang, Hsiang-Tai Chao, Heung-Tat Ng, Peng-Hui Wang — 2012-03-01

In the last year’s issue [Taiwan J Obstet Gynecol 2011;50(3)], Wu et al reported an interesting article entitled “Disseminated peritoneal tuberculosis simulating advanced ovarian cancer: A retrospective study of 17 cases” and concluded that a diagnosis of disseminated peritoneal tuberculosis should be considered in relatively young female patients with the nonspecific symptoms of abdominal distension, wasting, and lymphocytic ascites without malignant cells .

Prediction of hemorrhage in placenta previa

2012-03-01

Abstract: Placenta previa poses a high risk for massive hemorrhage, from the antenatal period until after Cesarean section. This condition increases the risk of maternal and neonatal mortality and morbidity. In cases of placenta previa, the prenatal prediction of sudden bleeding during pregnancy and blood loss during Cesarean section, and the assessment of risk for adherence of the placenta using an ultrasound examination, can improve the perinatal outcome. Therefore, ultrasonographic findings associated with the prediction of massive bleeding in cases of placenta previa are reviewed in this article.

Review of myomectomy

Huann-Cheng Horng, Kuo-Chang Wen, Wen-Hsiang Su, Chien-Sheng Chen, Peng-Hui Wang — 2012-03-01

Abstract: Uterine fibroids (also called leiomyomas or myomas) are the most common disorder among women of reproductive age, with an incidence of between 20% and 80%; they are often detected incidentally in routine healthy examinations, through bimanual pelvic and/or ultrasound examination, because uterine fibroids are rarely associated with symptoms. Sometimes, uterine fibroids may be complicated by a variety of symptoms, including menstrual disturbance (e.g., menorrhagia, dysmenorrhea, intermenstrual bleeding), pressure symptoms, bloated sensation, increased urinary frequency, bowel disturbance, or pelvic pain; therefore definite treatment is requested. Hysterectomy may be the first choice for women who have completed their child-birth; however, many women may prefer to keep the uterus if the uterine fibroids-related symptoms can be appropriately controlled. Among these conservative therapies, myomectomy may be one of the most popular methods for the woman who would like to preserve her future fertility, as the majority of symptoms can be relieved by myomectomy; this contributes to the value of this review. This review addresses the use of myomectomy in the management of symptomatic uterine fibroids.

Prenatal diagnosis and genetic analysis of fetal akinesia deformation sequence and multiple pterygium syndrome associated with neuromuscular junction disorders: A review

Chih-Ping Chen — 2012-03-01

Abstract: Fetal akinesia deformation sequence is a clinically and genetically heterogeneous disorder characterized by a variable combination of arthrogryposis, fetal akinesia, intrauterine growth restriction, developmental abnormalities such as cystic hygroma, pulmonary hypoplasia, cleft palate, cryptorchidism, cardiac defects and intestinal malrotation, and occasional pterygia of the limbs. Multiple pterygium syndrome is a clinically and genetically heterogeneous disorder characterized by pterygia of the neck, elbows and/or knees, arthrogryposis, and other phenotypic features such as short stature, genital abnormalities, craniofacial abnormalities, clubfoot, kyphoscoliosis, and cardiac abnormalities. Fetal akinesia deformation sequence may phenotypically overlap with the lethal type of multiple pterygium syndrome. This article provides a comprehensive review of prenatal diagnosis and genetic analysis of fetal akinesia deformation sequence and multiple pterygium syndrome associated with neuromuscular junction disorders. Prenatal diagnosis of fetal akinesia along with cystic hygroma, increased nuchal translucency, nuchal edema, hydrops fetalis, arthrogryposis, pterygia, and other structural abnormalities should include a differential diagnosis of neuromuscular junction disorders. Genetic analysis of mutations in the neuromuscular junction genes such as CHRNA1, CHRND, CHRNG, CNTN1, DOK7, RAPSN, and SYNE1 may unveil the pathogenetic cause of fetal akinesia deformation sequence and multiple pterygium syndrome, and the information acquired is helpful for genetic counseling and clinical management.

Robotic surgery in complicated gynecologic diseases: Experience of Tri-Service General Hospital in Taiwan

2012-03-01

Abstract: Objective: Minimally invasive surgery has been the trend in various specialties and continues to evolve as new technology develops. The development of robotic surgery in gynecology remains in its infancy. The present study reports the first descriptive series of robotic surgery in complicated gynecologic diseases in Taiwan.Materials and Methods: From March 2009 to February 2011, the records of patients undergoing robotic surgery using the da Vinci Surgical System were reviewed for patient demographics, indications, operative time, hospital stay, conversion to laparotomy, and complications.Results: Sixty cases were reviewed in the present study. Forty-nine patients had benign gynecologic diseases, and 11 patients had malignancies. These robot-assisted laparoscopic procedures include nine hysterectomy, 15 subtotal hysterectomy, 13 myomectomy, eight staging operation, two radical hysterectomy, five ovarian cystectomy, one bilateral salpingo-oophorectomy and myomectomy, two resections of deep pelvic endometriosis, one pelvic adhesiolysis, three sacrocolpopexy and one tuboplasty. Thirty-three patients had prior pelvic surgery, and one had a history of pelvic radiotherapy. Adhesiolysis was necessary in 38 patients to complete the whole operation. Robotic myomectomy was easily accomplished in patients with huge uterus or multiple myomas. The suturing of myometrium or cervical stump after ligation of the uterine arteries minimized the blood loss. In addition, it was much easier to dissect severe pelvic adhesions. The dissection of para-aortic lymph nodes can be easily accomplished. All these surgeries were performed smoothly without ureteral, bladder or bowel injury.Conclusion: The present analyses include various complicated gynecologic conditions, which make the estimation of the effectiveness of robotic surgery in each situation individually not appropriate. However, our experiences do show that robotic surgery is feasible and safe for patients with complicated gynecologic diseases.

Characteristics of early-onset neonatal sepsis caused by Escherichia coli

Chin-Han Tsai, Yi-Yung Chen, Kuo-Gon Wang, Chen-Yu Chen, Chie-Pein Chen — 2012-03-01

Abstract: Objective: This study was conducted to document the perinatal risk factors associated with early-onset neonatal Escherichia coli sepsis and adverse neonatal outcomes.Materials and Methods: A case-control study of early-onset E coli sepsis compared with that of non-E coli sepsis was conducted by a retrospective data review of all infants with a diagnosis of sepsis during the first 7 days of life from the pediatric unit of Mackay Memorial Hospital from January 2004 to October 2008. After adjustment for gestational age, each patient with E coli early-onset sepsis was further compared with two gestational age-matched uninfected controls.Results: Compared with infants with non-E coli sepsis (n = 27), infants with E coli sepsis (n = 19) were more likely to have preterm birth, especially at less than 30 weeks of gestation (47% vs. 4%, p 24 hours; 47% vs. 0%, p < 0.01), antibiotic use (63% vs. 15%, p < 0.01), and sepsis onset on the first day of life (63% vs. 15%, p < 0.01). After adjusting for gestational age, intrapartum fever (26% vs. 5%, p = 0.035) and PPROM (74% vs. 39%, p = 0.015) were more common in infants with E coli sepsis. Fifteen of the 19 E coli isolates (79%) were ampicillin-resistant, and three (16%) were gentamicin-resistant. Antepartum and intrapartum antibiotic exposure was associated with ampicillin-resistant E coli sepsis (100% vs. 43%, p < 0.01).Conclusion: Early-onset E coli sepsis is more common in premature and very low birth weight infants and is more likely associated with intrapartum fever, PPROM, and sepsis onset on the first day of life than non-E coli sepsis. Broad-spectrum, multiple antibiotics or longer duration of antibiotic exposure may be associated with antibiotic-resistant pathogen infection.

Clinical characteristics and assisted reproductive technology outcomes in infertile foreign brides: Comparison with native brides in south Taiwan

2012-03-01

Abstract: Objective: This study was conducted to determine if differences in clinical characteristics, embryonic development, and pregnancy outcomes exist between infertile foreign and native brides undergoing assisted reproductive technology (ART) treatment in a foreign-bride-immigrating country of Taiwan.Material and Methods: A retrospective, case-control design was use to recruit consecutive infertile women seeking ART treatment for study. The treatment protocol consisted of controlled ovarian hyperstimulation with down-regulation and gonadotropin and ART method with conventional in vitro fertilization or intracytoplasmic sperm injection. Among the 1083 ART treatment cycles, 97 (9%) were from foreign brides and 986 (91%) from native brides. Records of those who received transfer of fresh embryos obtained by using husband sperm for fertilization were collected for analysis. A case-control design with adjustment of bride age was used to select the records of 86 infertile foreign and 172 native brides for the study. Infertility cause, bride age, retrieved oocyte number and maturity, fertilization rate, embryo score, and post-embryo transfer results were assessed.Results: The foreign bride couples had significantly greater infertility due to tubal (36%) and combination (8.1%) factors than native bride couples (20.3% and 4.1%, respectively). Days of gonadotropin stimulation, number of oocytes retrieved, fertilization rate, embryo score, implantation rate, or clinical pregnancy rate, and live birth rate did not differ between the two groups.Conclusion: The cause of infertile foreign bride couples requiring ART treatment had a higher percentage of tubal and combination factors, but similar ART outcomes.

Reprogramming human endometrial fibroblast into induced pluripotent stem cells

2012-03-01

Abstract: Objective: A recent breakthrough demonstrated that ectopic expression of four genes is sufficient to reprogram human fibroblasts into inducible pluripotent stem cells (iPSCs). However, it remains unknown whether human endometrial fibroblasts (EMFs) are capable of being reprogrammed into EMF-derived iPSCs (EMF-iPSCs).Methods: EMFs were obtained from donors in their third and fourth decade of life and were reprogrammed into iPSCs using retroviral transduction with Oct-4, Sox2, Klf4, and c-Myc.Results: The EMF-iPSCs displayed the accelerated expression of endogenous Nanog and OCT-4 during reprogramming compared with EMFs. As a result, EMF-iPSC colonies that could be subcultured and propagated were established as early as 12 days after transduction. After 2 weeks of reprogramming, the human endometrial cells yielded significantly higher numbers of iPSC colonies and formed more 3D spheroid bodies than the EMFs. We have shown that human EMF-iPSCs are able to differentiate into neuronal-like cells, adipocytes, and osteocyte-like cells that express specific osteogenic genes.Conclusion: Human EMFs can undergo reprogramming to establish pluripotent stem cell lines in female donors by the retroviral transduction of Oct-4, Sox2, Klf4, and c-Myc.

New primers for methylation-specific polymerase chain reaction enhance specificity of detecting STAT1 methylation

2012-03-01

Abstract: Objective: Signal transducer and activator of transcription (STAT)1 is a key tumor suppressor, which is always methylated in a variety of human cancers. However, nonspecific primers for the detection of specific promoter hypermethylation of STAT1 gene can lead to false-positive or false-negative results for gene methylation.Materials and Methods: We designed new primers for the detection of STAT1 methylation and compared the sensitivities and specificities of these new primers with prior published primers by methylation-specific polymerase chain reaction (PCR) from ovarian clear cell carcinomas. The mRNA expression levels of STAT1 in these cancerous tissues were also evaluated by reverse-transcriptase PCR and correlated with the results of promoter methylation of STAT1 gene.Results: Nine (39%) of the 23 samples detected by the new primers and 13 samples (56%) detected by prior published primers showed STAT1 methylation. A direct DNA sequencing test revealed that four of the 13 samples (30.8%) showed false positivity for STAT1 methylation using the prior published primers. In contrast, none of the nine samples was false-positive for the detection of STAT1 methylation using the new primers. The new primers for the detection of STAT1 methylation showed 100% specificity and 100% sensitivity without false positivity.Conclusion: Specific primers for methylation-specific PCR are mandatory for the accurate detection of STAT1 gene methylation. Besides, specific primers can generate correct interpretation of STAT1 gene methylation, and its correlation with the clinicopathological characteristics and outcome of cancer patients.

Estrogen receptor expression affected by hypoxia inducible factor-1α in stromal cells from patients with endometriosis

Meng-Hsing Wu, Chun-Wun Lu, Fong-Ming Chang, Shaw-Jenq Tsai — 2012-03-01

Abstract: Objective: Endometriosis is an estrogen-dependent disease. The aim of this study was to evaluate the different expression of estrogen receptors (ER) and its relation to hypoxia inducible factor-1α (HIF-1α) in stromal cells from women with endometriosis.Materials and Methods: Paired eutopic endometrial and ectopic endometriotic stromal cells were isolated from women with endometriosis while they underwent laparoscopy. The expression of ERα and ERβ was measured by reverse transcription-polymerase chain reaction and Western blot. Regulation of ER expression was evaluated by HIF-1α knockdown via short interference RNA.Results: The expression of ERβ was significantly increased in ectopic stromal cells. Treatment of endometrial stromal cells with hypoxia induced ERβ expression. Knockdown of HIF-1α abolished hypoxia-induced ERβ expression and increased ERα expression.Conclusion: The expression of ERβ is regulated by hypoxia. Results of this study will provide important information in the involvement of hypoxia factors in mediating estrogen action via different ER expression in endometriosis.

A prospective study of nerve-sparing radical hysterectomy for uterine cervical carcinoma in Taiwan

2012-03-01

Abstract: Objective: Surgical therapy for cervical carcinoma carries a significant risk of functional impairment to the bladder. This study evaluates the feasibility and complications of nerve-sparing radical hysterectomy (NRH) in Taiwan.Methods: Between March 2010 and March 2011, consecutive patients diagnosed with early stage cervical cancer (FIGO stage Ia2 to Ib1) and tumor size < 3 cm were recruited prospectively to undergo NRH or conventional radical hysterectomy (RH). Patients with histories of urinary stress incontinence or bladder dysfunction disease were excluded. A modified Tokyo nerve-sparing radical hysterectomy was performed.Results: A total of 30 patients were enrolled. Among these, 18 patients underwent NRH with successful bilaterally nerve-sparing procedures in 15 cases (83%), unilaterally nerve-sparing procedures in 2 cases (11%), and a failure in 1 case (6%). The indwelling catheter was removed on postoperative day 6. The mean±SD duration from operation to spontaneous voiding was 6.8±1.5 days for women who underwent NRH; the corresponding duration for women who underwent RH or failed NRH was 20.6±3 days. None of the patients who underwent NRH required intermittent catheterization. All 12 patients who underwent RH needed self-catheterization after discharge. There was a significant reduction in the incidence of postoperative self-catheterization (p<0.01) and bladder dysfunction (p<0.006). Average satisfaction score analyzed by the Likert-scale questionnaire was 4.5 for the NRH group and 1.9 for RH group (p<0.0001).Conclusions: We concluded that the new technique of NRH can reduce postoperative bladder dysfunctions.

Pregnancy outcomes according to increasing maternal age

2012-03-01

Abstract: Objectives: To investigate the risks of increasing maternal age on the perinatal and obstetric outcomes.Materials and Methods: Information about 29,760 singleton pregnancies delivered between 2005 and 2008 was extracted from our database. Patients were categorized into four groups according to age: 20–29 years, 30–34 years, 35–39 years, and ≥40 years. Multivariable logistic regression analysis was used to evaluate the adjusted odd ratios (AORs) of adverse pregnancy outcomes according to maternal age after adjusting for parity, body mass index, medical history and use of in vitro fertilization.Results: The majority of adverse perinatal outcomes were associated with a maternal age ≥35 years as follows: low birth weight (AOR 1.2 and 1.6 for women aged 35–39 years and ≥40 years, respectively); Apgar score < 7 at 1 minute (AOR: 1.7 and 1.8); and chromosomal anomaly (AOR: 2.7 and 12.3). However, women aged ≥30 years also had greater risks for adverse maternal outcomes such as: gestational diabetes (AOR: 2.0, 3.6 and 5.1 for women aged 30–34 years, 35–39 years and ≥40 years, respectively); placenta previa (AOR: 1.6, 2.1 and 3.6); and cesarean delivery (AOR: 1.5, 2.3, and 4.1), as well as adverse fetal outcomes such as: preterm delivery (AOR: 1.2, 1.4 and 1.8) and neonatal intensive care unit transfer (AOR: 1.1, 1.2, and 1.6).Conclusion: Increasing maternal age is an independent and substantial risk factor for adverse perinatal and obstetric outcomes. These adverse outcomes become more common as increasing maternal age without a clear cutoff age.

Simultaneous laparoscopy for endometriotic women undergoing in vitro fertilization

Man-Ling Chen, Kuan-Chiao Lee, Cheng-Ta Yang, Kuei-Hsiang Hung, Meng-Hsing Wu — 2012-03-01

Abstract: Objective: The aim of this study was to investigate simultaneous laparoscopy in endometriotic women with infertility undergoing in vitro fertilization (IVF).Materials and Methods: Forty-seven infertile patients with endometriosis were enrolled in this retrospective study and underwent IVF cycles in a university affiliated hospital.Results: The chemical pregnancy, clinical pregnancy and live birth rates were statistically significantly different between patients with minimal or mild stage endometriosis and patients with moderate or severe stage endometriosis, who received simultaneous laparoscopy and modified IVF with a GnRH antagonist protocol. A higher live birth rate was achieved in IVF patients with minimal or mild stage endometriosis combined with laparoscopic treatment, than in patients who received traditional IVF with prior laparoscopic surgery for endometrioma.Conclusion: Simultaneous laparoscopy combined with a modified IVF (GnRH antagonist) protocol may benefit patients with minimal and mild endometriosis. Traditional GnRH agonist IVF cycles may improve the fecundity rates in women with moderate and severe endometriosis after laparoscopic treatment.

Mosaic ring chromosome 21, monosomy 21, and isodicentric ring chromosome 21: Prenatal diagnosis, molecular cytogenetic characterization, and association with 2-Mb deletion of 21q21.1–q21.2 and 5-Mb deletion of 21q22.3

2012-03-01

Abstract: Objective: To present the perinatal findings and molecular cytogenetic characterization of prenatally detected mosaic r(21).Materials, Methods, and Results: A 29-year-old primigravid woman underwent amniocentesis at 22 weeks’ gestation because of hyperechogenic cardiac foci and intrauterine growth restriction. Amniocentesis revealed a karyotype of 46,XY,r(21)[15]/45,XY,–21[5]. The parental karyotypes were normal. The woman requested repeat amniocentesis. Oligonucleotide-based array comparative genomic hybridization was applied to the uncultured amniocytes, rapidly detecting a 2.09-Mb deletion of 21q21.1–q21.2 (21,495,262–23,580,815bp) and a 5.03-Mb deletion of 21q22.3–q22.3 (41,887,412–46,914,715bp). Cytogenetic analysis revealed a karyotype of 46,XY,r(21)[8]/45,XY,–21[3]/46,XY,idic r(21)[1]. The pregnancy was terminated, and a malformed fetus was delivered with clinodactyly, short big toes, separation between the first and second toes, prominent nasal bridge, downward slanting palpebral fissures, protuberant occiput, prominent forehead, broad anteverted nasal tip, long philtrum, thin upper lip, small mouth, and micrognathia. The placenta had a karyotype of 46,XY,r(21)[83]/45,XY,–21[11]/46,XY,idic r(21)[6], and the cord blood lymphocytes had a karyotype of 46,XY,r(21)[88]/45,XY,–21[9]/46,XY,idic r(21)[3]. Polymorphic DNA marker analysis determined a maternal origin for the deletion.Conclusion: An extra interstitial 21q deletion can be associated with mosaic r(21) in addition to a terminal 21q deletion. aCGH is useful in determining the breakpoints and associated subtle structural abnormalities in cases of prenatally detected ring chromosome in order to facilitate genetic counseling.

Trisomy 7 mosaicism at amniocentesis: Interphase FISH, QF-PCR, and aCGH analyses on uncultured amniocytes for rapid distinguishing of true mosaicism from pseudomosaicism

2012-03-01

Abstract: Objective: To present prenatal diagnosis of true trisomy 7 mosaicism.Materials, Methods and Results: A 36-year-old woman underwent amniocentesis at 18 weeks of gestation. Amniocentesis revealed a karyotype of 47,XY,+7[20]/46,XY[9]. The parental karyotypes were normal. Repeated amniocentesis was performed at 20 weeks of gestation. Array comparative genomic hybridization (aCGH) analysis on uncultured amniocytes manifested a genomic gain in chromosome 7. Quantitative fluorescent polymerase chain reaction (QF-PCR) analysis on uncultured amniocytes showed a biparental diallelic pattern with a dosage increase in the maternal allele. Interphase fluorescence in situ hybridization (FISH) on uncultured amniocytes revealed three 7q-specific signals in 13 of 50 (26%) of the cells. The cultured amniocytes had a karyotype of 47,XY,+7[12]/46,XY[14]. The ultrasound findings were unremarkable. The pregnancy was subsequently terminated, and a fetus was delivered with facial dysmorphisms. Postnatal tissue samplings revealed the mosaic trisomy 7 level of 37.5% (15/40), 30% (12/40), 42.5% (17/40), 82.5% (33/40), 52.5% (21/40), and 27.5% (11/40) in skin, liver, lungs, placenta, membrane, and cord, respectively. The cord blood had a karyotype of 46,XY. PEG1/MEST methylation-sensitive high-resolution melting PCR assay of cord blood showed no uniparental disomy for chromosome 7.Conclusion: Interphase FISH, QF-PCR, and aCGH analyses on uncultured amniocytes are useful for rapid distinguishing of true mosaicism from pseudomosaicism for trisomy 7 at amniocentesis. Cord blood sampling for confirmation of fetal trisomy 7 mosaicism is not practical.

Severe 2009 H1N1 infection in early pregnancy

2012-03-01

Abstract: Objective: Because pregnancy suppresses the immune system, women at any stage of pregnancy are more susceptible to bacterial and viral infection. Pregnant women might thus be at increased risk of complications from pandemic H1N1 virus infection, and illness may progress rapidly.Case Report: A 23-year-old primigravida at 9 weeks’ gestation was presented to our institution because of the sudden onset of sore throat, fever, chills, and vomiting for 5 days. She was diagnosed with early pregnancy H1N1 infection, vulvar herpes infection, and impending intravascular disseminated coagulopathy. Oseltamivir (Tamiflu) 75 mg and valacyclovir 500 mg were then administered orally twice daily for 5 days. The patient’s fever, chills, and vomiting subsided 2 days later. The real-time reverse-transcriptase polymerase chain reaction (RT-PCR) analysis of nasal discharge for influenza virus types A and B showed positive results for the A/H1N1 influenza virus. The early pregnancy was terminated by therapeutic curettage at the patient’s request. The surgical specimen revealed products of conception with the presence of necrotic chorionic villi, and focal lymphocytes in decidual tissue. RT-PCR analysis of gestational tissue for A/H1N1 was negative.Conclusion: Pregnant women with H1N1 infection seem to benefit from antiviral therapy.

Mature cystic teratoma of the uterosacral ligament successfully treated with laparoendoscopic single-site surgery

Yu-Jin Koo, Kyong-Shil Im, Hyun-Ju Jung, Yong-Soon Kwon — 2012-03-01

Abstract: Objective: Although the majority of teratomas are encountered in the ovary, extragonadal mature cystic teratoma is an unusual disease entity, and the most common site is the omentum.Case Report: The occurrence of this tumor on a uterosacral ligament is extremely rare with enigmatic etiology. To our knowledge, there have been only three cases reported to date that describe a mature cystic teratoma of the uterosacral ligament, and this is the first report of successful treatment of these rare tumors with laparoendoscopic single-site surgery (LESS).Conclusion: In the present study, we report a mature cystic teratoma of the uterosacral ligament successfully treated with LESS in a 34-year-old woman with a preoperative diagnosis of mature cystic teratoma of the left ovary.

Uterine carcinosarcoma associated with pelvic radiotherapy for sacral chordoma: A case report

Korhan Kahraman, Fırat Ortac, Duygu Kankaya, Gulsah Aynaoglu — 2012-03-01

Abstract: Objective: Postirradiation sarcoma of the female genital tract is rare, but a recognized event. Most reported cases have been associated with history of radiotherapy for various gynecologic conditions, particularly cancer of the uterine cervix and abnormal uterine bleeding. The occurrence of uterine sarcoma secondary to radiotherapy for a non-gynecologic tumor and, furthermore, this condition being simultaneous with the recurrence of primary tumor is unique.Case Report: A 67-year-old woman presented with a uterine mass which was diagnosed as a sarcoma by endometrial curettage and history of pelvic radiotherapy 23 years previously for sacral chordoma. Surgical staging procedure for uterine malignancy was performed. The final pathologic diagnosis was carcinosarcoma of the uterus.Conclusion: In uterine masses seen in patients with history of irradiation to the pelvic field, the probability of uterine sarcomas should always be kept in mind. These tumors may occur simultaneously with recurrence of primary tumor previously treated by adjuvant radiation therapy.

Rapid aneuploidy diagnosis of partial trisomy 7q (7q34→qter) and partial monosomy 10q (10q26.12→qter) by array comparative genomic hybridization using uncultured amniocytes

2012-03-01

Abstract: Objective: To present rapid aneuploidy diagnosis (RAD) of partial trisomy 7q (7q34→qter) and partial monosomy 10q (10q26.12→qter) by array comparative genomic hybridization (aCGH) using uncultured amniocytes.Case Report: A 34-year-old, gravida 2, para 1, woman underwent amniocentesis at 20 weeks of gestation because of a previous mentally retarded child with an unbalanced reciprocal translocation inherited from the carrier father who had a karyotype of 46,XY,t(7;10) (q34;q26.12). Her first child was initially found to have a normal karyotype by routine cytogenetic analysis, but a cryptic chromosomal abnormality was subsequently diagnosed by aCGH. During this pregnancy, RAD by oligonucleotide-based aCGH using uncultured amniocytes revealed a 16.4-Mb duplication of 7q34–q36.3 and a 12.7-Mb deletion of 10q26.12–q26.3. Conventional cytogenetic analysis using cultured amniocytes revealed a karyotype of 46,XX,der(10)t(7;10)(q34;q26.12)pat. The parents elected to terminate the pregnancy. A malformed female fetus was delivered with a high prominent forehead, hypertelorism, epicanthic folds, a broad depressed nasal bridge, a prominent nose with anteverted nostrils, micrognathia, a short neck, large low-set ears, clinodactyly, small big toes, and normal female external genitalia.Conclusion: aCGH is a useful tool for RAD of subtle chromosomal rearrangements in pregnancy, especially under the circumstance of a previous abnormal child with an unbalanced translocation derived from a parental subtle reciprocal translocation.

Short rib-polydactyly syndrome type II (Majewski): Prenatal diagnosis, perinatal imaging findings and molecular analysis of the NEK1 gene

2012-03-01

Abstract: Objective: To demonstrate perinatal imaging findings and to investigate the mutation in the NEK1 gene in a fetus with type II short rib-polydactyly syndrome (SRPS) (Majewski).Case Report: A 34-year-old woman with a past history of fetal SRPS was referred to the hospital at 16 weeks of gestation because of sonographic diagnosis of short limbs in the fetus. Fetal ultrasound revealed short ribs, short limbs, absence of tibiae, polydactyly, syndactyly and choroid plexus cysts. At 21 weeks of gestation, polycystic kidneys were found. The pregnancy was terminated, and a fetus was delivered with facial dysmorphism, a median cleft lip, a narrow chest, micromelia, aplasia of tibiae, hypoplastic nails, syndactyly and postaxial polydactyly. The karyotype was 46,XX. Molecular analysis of fetal tissues showed a paternal-origin heterozygous splice site mutation in intron 7 (c.465-1 G>A) in the NEK1 gene, but no mutations in the genes of WDR35, DYNC2H1, IFT80, EVC and EVC2. The NEK1 mutation causes an alteration of the splice acceptor site of intron 7 (IVS7-1 G>A). No second mutation was identified.Conclusion: Tibial aplasia, choroid plexus cysts and polycystic kidneys can be prominent prenatal ultrasound findings of type II SRPS. The present case provides evidence for a correlation of NEK1 mutation with type II SRPS.

Ultrasound-guided hydrosalpinx aspiration during oocyte retrieval and a mouse embryo assay of hydrosalpinx fluid in a woman with hydrosalpinx and hydrometra during in vitro fertilization treatment

2012-03-01

We present a successful pregnancy in a woman with hydrosalpinx and hydrometra after hydrosalpinx aspiration during oocyte collection in the in vitro fertilization (IVF) cycle. To our knowledge, this is the first report to combine ultrasound-guided hydrosalpinx aspiration with a mouse embryo assay of hydrosalpinx fluid for selection of appropriate treatment options for women with both hydrosalpinx and hydrometra. This new strategy provides valuable information to clinicians so that a more rational decision can be made to either go ahead with the cycle or to freeze all embryos and consider the possibility of surgical treatment.

Prenatal diagnosis of mosaic ring chromosome 15 with abnormal maternal serum Down syndrome screening and Dandy-Walker malformation

2012-03-01

Ring chromosome 15 is an uncommon chromosomal abnormality which results from the loss of the distal ends of both the p and q chromosome arms, followed by fusion of the broken ends. In most cases, subjects are usually diagnosed postnatally with a variable phenotype. Second-trimester Down syndrome screening has been widely used for decades, but the correlation between the level of maternal serum human chorionic gonadotropin (MShCG) and chromosome 15 abnormalities has never been assessed. In addition, Dandy-Walker malformation (DWM) has also never been reported in the cases of ring chromosome 15 or monosomy 15. Here, we first present the prenatal diagnosis of mosaic ring chromosome 15 characterized by abnormal serum maternal Down screening and DWM.

Successful management of a giant primary epidermoid cyst arising in the labia majora

Wei-Chen Yang, Wen-Chen Huang, Jenn-Ming Yang, Fa-Kung Lee — 2012-03-01

The occurrence of vulvar epidermoid cysts is uncommon. Vulvar epidermoid cysts are usually multicystic, with the vast majority of locules being <1 cm in diameter . These cysts generally grow slowly and stop growing after reaching 5 cm in diameter , with the reported largest size of 8 cm × 7 cm . It is documented that the clitoris is the most commonly involved structure . The main etiology is female genital surgery or trauma causing an invagination of squamous epithelium and then desquamating into a closed space to form a cystic mass . Most of these cysts require no treatment unless they become infected or painful. Treatment options include local heat application, incision and draining, or excision .

Parasitic peritoneal leiomyomatosis mimicking intra-abdominal abscess with hematoma

Kuan Chiao Lee, Chen-Yu Huang, Peng-Hui Wang — 2012-03-01

A 43-year-old sexually-naive female, a case of primary transsexualism, female to male, was treated with stage I sexual reassignment surgery. This included vaginal hysterectomy, bilateral salpingo-oophorectomy, vaginectomy, neourethra prelamination, and bilateral reduction mammoplasty at the tertiary medical center. Preoperative evaluation was unremarkable, however, no image study for the uterus (e.g., ultrasound) was done. A very large uterus was extracted and removed blindly through the vagina. Final pathology showed an 18 × 14 × 9 cm3 uterus containing the 10 × 8 × 7 cm3 cellular leiomyoma. Postoperative recovery was uneventful.

Dramatic changes of CA 125 levels in a pregnant woman with a degenerated subserosal myoma

Fu-Nan Cho, Cheng-Bin Liu, Ju-Yueh Li, San-Nung Chen, Ken-Jen Yu — 2012-03-01

A 28-year-old pregnant woman presented with a pelvic mass that was causing no discomfort. Gray-scale transvaginal sonography revealed a 6-week intrauterine gestation, a 6-cm, irregular, left-sided adnexal tumor, and a blurred interface between the tumor and the uterus. Her serum cancer antigen (CA) 125 level (Architect CA 125 II, CMIA, Abbott Laboratories, Abbott Park, IL, USA) was 1007 U/mL, but the levels of carcinoembryonic antigen (CEA), carbohydrate antigen (CA) 199, and lactate dehydrogenase (LDH) were within normal ranges.

Adenoid cystic carcinoma of Bartholin’s gland

Tseh-Lee C. Hwang, Yao-Ching Hung, Hui-Wen Chang — 2012-03-01

Adenoid cystic carcinoma (ACC) originating from Bartholin’s gland is a rare carcinoma of the female reproductive tract, accounting for <1% of all female genital malignancies and only 0.1–7% of all vulvar carcinomas . Histologically, ACC comprises only 15% of the many diverse Bartholin’s gland tumors. Ever since the first documentation of ACC by Klob in 1864, only approximately 350 cases have been reported . Due to the low incidence, knowledge regarding optimal management and clinical outcome is limited. This report describes the diagnosis, treatment and outcome of a patient with ACC of Bartholin’s gland.

Using a half dose of leuplin depot in a long-term protocol for in vitro fertilization

Wen-Kao Tsai, Tung-Pi Wu, Hsin Chieh Tsia, Yu-ling Huang, I.-Ching Wu — 2012-03-01

A retrospective review of medical charts was used to compare the use of a half dose of leuplin depot (3.75mg/vial; Takeda, Osaka, Japan) in a long agonist protocol for in vitro fertilization (IVF) (long protocol) with the conventional pill-leupron-HMG/FSH short agonist protocol (short protocol).

Rapid aneuploidy diagnosis by multiplex ligation-dependent probe amplification using uncultured amniocytes in pregnancy with major fetal structural abnormalities

2012-03-01

Case 1. A 41-year-old woman (gravida 1) underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Prenatal ultrasound revealed nuchal edema, nasal hypoplasia, and endocardial cushion defects (). Aspiration of amniotic fluid yielded 8 mL with uncultured amniocytes that was applied for multiplex ligation-dependent probe amplification (MLPA) using the SALSA MLPA P095-A2 aneuploidy kit (MRC-Holland bv, Amsterdam, The Netherlands) to detect aneuploidies of chromosomes X, Y, 13, 18, and 21; 8 mL with uncultured amniocytes was applied for quantitative fluorescent polymerase chain reaction (QF-PCR); and 16 mL was applied for conventional cytogenetic analysis using cell culture of the amniocytes. Within 2 days, MLPA showed the result of a female fetus with three copies of all targets on chromosome 21, and two copies of all targets on chromosomes X, 13, and 18 within the P095-A2 kit [mlpa X (P095-A2)×2, 13 (P095-A2)×2, 18 (P095-A2)×2, 21 (P095-A2)×3] (). QF-PCR analysis confirmed the prenatal diagnosis and maternal origin of the extra chromosome 21 (). Conventional cytogenetic analysis revealed a karyotype of 47,XX,+21. The pregnancy was subsequently terminated, and a 200-g fetus with facial dysmorphism and nuchal edema was delivered at 18 weeks of gestation ().

Prenatal diagnosis of partial trisomy 16p (16p12.2→pter) and partial monosomy 22q (22q13.31→qter) associated with increased nuchal translucency and abnormal maternal serum biochemistry in the first trimester

2012-03-01

A 33-year-old, gravida 4, para 1, woman underwent first-trimester screening for chromosome abnormalities using ultrasound and maternal serum biochemistry at 13 weeks of gestation. The fetal nuchal translucency (NT) measured 3.62 mm (). The levels of free beta-human chorionic gonadotrophin (free β-hCG) and pregnancy-associated plasma protein A (PAPP-A) were 0.686 multiples of median (MoM) and 0.272 MoM, respectively. The woman screened positive for trisomy 21 (risk of 1/11), trisomy 18 (risk of 1/33), and trisomy 13 (risk of 1/20). Chorionic villus sampling was performed. The fetal karyotype was 46,XX,der(22)t(16;22)(p12.2;q13.31) (). Cytogenetic analysis of the parents revealed a karyotype of 46,XY in the father and a karyotype of 46,XX,t(16;22)(p12.2;q13.31) in the mother (). The mother had experienced spontaneous abortions twice before and had a healthy 5-year-old son. The family did not had a history of congenital malformations. The woman had not been aware of her translocation status prior to this pregnancy.

Unexplained shortening of the long bones in the third trimester as the only prenatal feature in a male fetus with 45,X/46,X,r(Y) mosaicism

2012-03-01

A 20-year-old, woman (gravida 2 para 0) was referred to the hospital at 32 weeks of gestation because of shortening of the lone bones and a tentative diagnosis of achondroplasia. The pregnancy was uneventful until 28 weeks of gestation, when shortening of the long bones was noted. Level II ultrasound at 32 weeks of gestation revealed a normal amount of amniotic fluid and a singleton male fetus with a biparietal diameter of 8.1 cm (32 weeks), abdominal circumference of 24 cm (28 weeks), femur length of 4.6 cm (25 weeks), tibial length of 3.5 cm (23 weeks), fibular length of 3.7 cm (22 weeks), humeral length of 3.8 cm (23 weeks), and normal male external genitalia. The woman underwent cord blood sampling for molecular analysis of mutations of the FGFR3 gene, array comparative genomic hybridization (aCGH) analysis of genomic imbalance, and cytogenetic analysis of chromosome abnormalities. FGFR3 analysis revealed no mutations in the FGFR3 gene and thus excluded achondroplasia, hypochondroplasia, and thanatophoric dysplasia. Oligonucleotide-based aCGH analysis of cord blood using CytoChip Oligo array (BlueGnome, Cambridge, UK) revealed a 14.62-Mb duplication of Yp11.31-q11.221 and a 40.06-Mb deletion of Yq11.221-q12, or arr Yp11.31q11.221 (2,716,409 – 17,336,279 base pairs)×2, Yq11.221q12 (17,375,731 – 57,440,839 bp)×0 (). Cytogenetic analysis of cord blood revealed a karyotype of 46,X,idic r(Y)(p11.31q11.221) in 20 cord blood lymphocytes. The parental karyotypes were normal. At 33 weeks of gestation, the woman underwent amniocentesis, which revealed a karyotype of 46,X,r(Y)(p11.31q11.221)[20]/46,X,idic r(Y)(p11.31q11.221)[2]/45,X[2] (). Multicolor banding (MCB; MetaSystem, Altussheim, Germany) analysis of ten metaphase amniocytes showed that the marker chromosome originated from the short arm of the Y chromosome (). Fluorescence in situ hybridization (FISH) analysis was done with Vysis SRY/CEPX probes (Abbott, Abbott Park, IL, USA) and subtelomere-specific probes of Xp/Yp and Xq/Yq pseudoautosomal region subtelomeres (Cytocell, Adderbury, Oxfordshire, UK). The SRY (Yp11.31) and CEPX (Xp11.1-q11.1) probes correspond to the SRY gene and the α-satellite of the X chromosome, respectively. The Xp/Yp and Xq/Yq probes correspond to the homologous loci of DXYS129 and DXYS61, respectively. FISH analysis showed that the r(Y) chromosome contained the SRY gene (). FISH analysis showed that the X chromosome contained Xp and Xq signals, but the r(Y) chromosome did not contain Yp or Yq signals (). The parents chose to continue the pregnancy. At 34+6 weeks of gestation, intrauterine fetal death occurred, and a 1344g (

Prenatal ultrasound demonstration of scoliosis, absence of one rib, a radial club hand, congenital heart defects and absent stomach in a fetus with VACTERL association

2012-03-01

A 34-year-old, gravida 4, para 1, woman underwent amniocentesis at 18 weeks of gestation because of advanced maternal age. Cytogenetic analysis revealed a karyotype of 46,XY. The woman’s husband was 49 years old. She and her husband were non-consanguineous, and there was no family history of congenital malformations. The woman did not have diabetes mellitus during this pregnancy. Level II ultrasound at 22 weeks of gestation demonstrated absent stomach (), double outlet of right ventricle (), ventricular septal defect (), scoliosis with absence of the one rib () and a radial club hand (). A diagnosis of VACTERL association was made. The parents elected to terminate the pregnancy. A 525-g male fetus was delivered with a radial club hand (). X-ray showed a gracile radius and reduced first metacarpal and phalanges of the right thumb () and hypoplastic vertebral bodies of T10 to T12 causing scoliosis with convexity to the left (). Array comparative genomic hybridization analysis of fetal tissues revealed no genomic imbalances.

Primary fallopian tube carcinoma

Ben-Shian Huang, Kuan-Chong Chao, Wen-Hsun Chang, Peng-Hui Wang — 2012-03-01

We read the report by Ou et al entitled “Primary fallopian tube carcinoma: clinicopathological analysis of 12 cases” with interest . At least 22 studies have addressed this topic, as reviewed by the authors . The authors provided a reasonable conclusion that a diagnosis of primary fallopian tube carcinoma (PFTC) should be considered in patients who complain of lower abdominal pain in association with vaginal bleeding and/or watery discharge (16.7%) or tubo-ovarian abscess (TOA) (25%) .

Ruptured ovarian endometrioma

Feng-Ying Fang, Ben-Shian Huang, Hsiang-Tai Chao, Peng-Hui Wang — 2012-03-01

We read the report by Huang et al entitled “Long-term follow-up of patients surgically treated for ruptured ovarian endometriotic cysts” with interest. The authors retrospectively reviewed 11 patients with ruptured endometrioma and a history of dysmenorrhea who underwent surgical intervention and followed-up examination for more than 3 years, and the authors concluded that emergency surgical intervention may lead to a better prognosis, particularly in patients without a history of previous endometrioma surgery .

Ovarian cancer presenting as an acute abdomen was successfully diagnosed and managed by laparoscopy

Huann-Cheng Horng, Peng-Hui Wang — 2012-03-01

A 42-year-old, gravida 2, para 2 woman had suffered from abdominal pain for 1 day. Her history includes two cesarean sections, and a 4-year experience of dysmenorrhea. She was diagnosed accidentally to have a 6-cm ovarian tumor favoring the diagnosis of chocolate cyst (endometrioma) 6 months ago. Her last menstruation date was 29 days ago; therefore, she considered this acute abdominal pain as dysmenorrhea since this attack was accompanied with menstruation.

Third- and fourth-degree perineal laceration in vaginal delivery

Chun-Chieh Chia, Soon-Cen Huang — 2012-03-01

Perineal repair after episiotomy or spontaneous obstetric laceration is one of the most common surgical procedures. Potential sequelae of obstetric perineal lacerations include chronic perineal pain , dyspareunia , and urinary and fecal incontinence . Few studies of laceration repair techniques exist to support the development of an evidence-based approach to perineal repair.