Taiwanese Journal of Obstetrics and Gynecology

Ovarian torsion during pregnancy

Ben-Shian Huang, Peng-Hui Wang — 2011-12-01

Ovarian tumors might complicate pregnancy in any one of the pregnancy periods, and any management used should not have a negative impact on the wellbeing of either the mother or the fetus. In this issue, Chang and colleagues discussed the topic of ovarian torsion during pregnancy, and identified 20 pregnancies during a 12-year period . They found that the majority of cases (75%) occurred in the first trimester and 30% were mature teratomas . In fact, in 2009, the authors studied 174 patients and showed only 5.9% of ovarian torsions occurred after 20 weeks, suggesting a higher risk of ovarian torsion occurring before 20 weeks of gestational age; this was also evidenced in another study . In addition, the highest risk of ovarian torsion exists between the 10th and 17th week of gestation (60%). Finally, ovarian torsion does not always occur with pathological findings; that is to say, the percentage of functional cysts (corpus luteum cyst, follicular cyst) is high, e.g., 35% in Chang and colleagues’ study and 41% in another study .

Laparoscopic hysterectomies for large uteri

2011-12-01

Abstract: Laparoscopic hysterectomies increase recently due to several advantages of minimally invasive surgery. Controversy exists for laparoscopic hysterectomies for large uteri weighing >500g because some reports show increased complications and morbidities and high laparoconversion rate in the past. With familiarity of laparoscopic procedures and progress in surgical techniques, the issue should be discussed and reviewed by evidence again. Hence, we conducted a systematic review of laparoscopic hysterectomies for large uteri.

Management of moderate to severe Alzheimer’s disease: Focus on memantine

Evangelyn Dominguez, Ting-Yu Chin, Chih-Ping Chen, Tzong-Yuan Wu — 2011-12-01

Abstract: Alzheimer’s disease (AD) is the most common form of dementia, and one of the principal causes leading to death around the world. It is a progressive neurodegenerative disorder that still remains without definite cure. Memantine, a licensed AD drug, is an open-channel and partial trapping blocker that functions as a potent NMDA receptor antagonist, even at low concentrations. Aside from being uncompetitive, it also allows near-normal physiological NMDA receptor activity throughout the brain even with high glutamate concentrations, making it more reliable and tolerable than other AD-targeted drugs. It has also been found to be effective, safe, and well-tolerated in animal models as well as patients with moderate-to-severe AD. Aside from NMDA receptor antagonism, numerous studies have reported that memantine can also affect dopamine receptors, block excessive calcium influx and production of reactive oxygen species (ROS) induced by Aβ oligomers, and inhibit the internal ribosome entry site (IRES), thus preventing the expression of the amyloid precursor and tau proteins which are considered as early indicators of Alzheimer's.

Conjoined twins detected in the first trimester: A review

2011-12-01

Abstract: Conjoined twinning occurs in 1 in 100 sets of monozygotic twins, 1 in 50,000 gestations or 1 in 250,000 live births. With the advent of ultrasound technology, prenatal diagnosis of conjoined twins is possible. This article provides a comprehensive review of conjoined twins detected in the first trimester including fetal gender, maternal age, parity, types of fusion, related ultrasound abnormalities, perinatal outcome and association with assisted reproduction.

Low-dose GnRH antagonist protocol is as effective as the long GnRH agonist protocol in unselected patients undergoing in vitro fertilization and embryo transfer

2011-12-01

Abstract: Objective: The present retrospective and controlled comparative study was designed to evaluate the pregnancy rate achieved using a modified, fixed, multiple-dose 0.125mg gonadotropin-releasing hormone (GnRH) antagonist protocol with the long GnRH agonist protocol as the control group.Materials and methods: One hundred and twenty unselected women between 30 and 40 years of age, in their first cycle of IVF/ICSI, with a baseline follicle-stimulating hormone (FSH) <10 IU and an antral follicle count >3 were assigned into two groups: (1) the study group received 0.125mg of cetrorelix daily starting on Day 6 of stimulation; and (2) the control group received leuprolide daily starting in the mid-luteal phase of the preceding cycle. Both groups were given a flexible dose of recombinant FSH for stimulation. An ongoing pregnancy rate of more than 12 weeks was the primary outcome measure of the study.Results: Primary and secondary outcomes were comparable in both groups. A shorter duration of stimulation, a lower dosage of recombinant FSH consumption and a thinner endometrium on the day of human chorionic gonadotropin administration were all observed in the GnRH antagonist group.Conclusion: A dosage of 0.125mg GnRH antagonist protocol was effective for these unselected patients during IVF/ET.

Single-port access laparoscopic surgery using a novel laparoscopic port (Octo-Port)

2011-12-01

Abstract: Objective: We present our initial experience with single-port access (SPA) surgery using a novel laparoscopic port (Octo-Port).Materials, Methods, and Results: In a prospective study, SPA surgery was carried out on 11 patients with the Octo-Port from July 2009 to December 2009 by a single surgeon (T.-J. K.). The procedures carried out were hysterectomy (seven patients), ovarian cystectomy (two patients) and salpingo-oophorectomy (two patients). In 10 cases the procedure was successfully performed without the use of additional ports. In one case the SPA procedure failed and ancillary ports were required; this patient had anatomical variations that made use of the SPA technique difficult. All procedures were performed without complications. There were no perioperative port-related or surgical problems. The Octo-Port had certain advantages such as reducing the need for long laparoscopic instruments, reducing extracorporeal instrumental crowding, and providing better deflection of smoke compared to other SPA devices that used a wound retractor and a glove.Conclusion: Our study demonstrated that the Octo-Port allows laparoscopic surgery to be performed safely and easily with a reduced number of ports.

Patient -controlled epidural ropivacaine as a post-Cesarean analgesia: A comparison with epidural morphine

2011-12-01

Abstract: Objective: Conventional, intermittent, epidural morphine is widely applied as a post-Cesarean delivery analgesia. We compared the analgesic efficacy, motor weakness, and side effects of administering a patient-controlled epidural analgesia (PCEA) of pure ropivacaine versus the intermittent administration of epidural morphine after Cesarean delivery.Materials and Methods: This randomized, double-blind study included 120 full-term parturients who underwent elective Cesarean delivery and received either PCEA with pure ropivacaine or an intermittent bolus epidural of 2 mg/10 mL morphine in normal saline twice per day. The efficacy of pain relief, post-Cesarean side effects, motor blockades, time to first ambulation, and global satisfaction scores were evaluated.Results: Pain scores were recorded at the four evaluation times (2, 12, 24, and 48 hours post-Cesarean delivery), and the time to first ambulation did not statistically differ between the two groups. Patients in the ropivacaine group experienced more motor weakness at 2 and 12 hours, fewer side effects, and higher global satisfaction scores than those in the morphine group (p < 0.05).Conclusion: The analgesic efficacy after cesarean delivery was almost equivalent between two groups. PCEA with pure ropivacaine induced significant motor blockade during the first 12 hours, but without delaying the time to first ambulation. Patients in the ropivacaine group reported higher patient satisfaction scores due to the significant reduction of annoying side effects, such as pruritus, nausea, vomiting, and urinary retention.

Comparative transcriptome analysis reveals a fetal origin for mesenchymal stem cells and novel fetal surface antigens for noninvasive prenatal diagnosis

2011-12-01

Abstract: Objective: Mesenchymal stem cells (MSCs) are an attractive source for providing the cells necessary for regenerating damaged tissues. Fetal MSCs (fMSCs) are known to proliferate fast and have an excellent osteogenic capacity, yet the underlying mechanisms need to be explored. A better understanding of MSCs from different anatomic origins and ages will eventually benefit cell-based therapies, as well as subsequent mechanistic studies in the field of stem cell biology.Materials and Methods: We identified the molecular signatures of fetal and adult MSCs via a meta-analytic strategy and compared the enriched canonical pathways and genetic networks within each signature.Results: Fetal MSCs were found to express more cell cycle genes, which is consistent with the results of wetlab functional assays. In addition, the genes involved in vasculogenesis, neurogenesis, Wnt, MAPKKK pathways, and RNA splicing were found to be enriched in fMSCs. Correlating with the overexpression of multilineage differentiation genes, fMSCs share more genes with embryonic stem cells (ESCs) and are, therefore, more primitive. Further exploration into the transcriptome similarities revealed that MSCs from umbilical cord blood (UCB) express dominant fMSC genes, but not adult genes, suggesting a fetal origin for UCB MSCs. Novel surface proteins that were dominantly expressed in fetal and UCB MSCs, but not in adult MSCs or maternal PBMCs, were also identified.Conclusion: Our results systematically revealed the underlying genes and regulatory networks of two MSCs from unique origins, the resulting phenotypes, as well as the origin of UCB MSCs. The novel membrane proteins on the fetal MSC surface are promising candidate biomarkers for positively isolating fetal MSCs from maternal blood for noninvasive prenatal diagnosis.

Surgical intervention for maternal ovarian torsion in pregnancy

Shuenn-Dhy Chang, Chih-Feng Yen, Liang-Ming Lo, Chyi-Long Lee, Ching-Chung Liang — 2011-12-01

Abstract: Objective: Maternal ovarian torsion in pregnancy is a rare complication. This study was conducted to review the clinical manifestations, and to compare the outcome between laparoscopy and laparotomy in women undergoing surgery for ovarian torsion (OT) during pregnancy.Materials and Methods: Using the International Classification of Disease, Ninth Revision, and Clinical Modification, we reviewed the clinical records of patients with OT during pregnancy between 1997 and 2008 at a university hospital.Results: Twenty pregnant women were identified with surgically proven OT, 10 in the first trimester, eight in the second, and two in the third. Thirteen (65%) cases were suspected before operation to be adnexal torsion. The most common symptom and sign were pelvic pain (95%) and an adnexal or pelvic mass (95%), followed by nausea and vomiting (65%), elevated white blood cell count >12×109/L (45%), and fever (10%). Most patients in the first trimester (75%) and a minority in the second and third trimesters (37.5%) received management via laparoscopy. Patients undergoing laparoscopy treatment had smaller ovarian masses and a shorter postoperative hospital stay than those receiving laparotomy. None of these patients had significant complications during or after surgery. However, the outcomes of pregnancy varied: 12 (60%) term deliveries, three (15%) preterm deliveries at over 31 gestational weeks, one missed abortion and four elective abortions in the first trimester.Conclusion: The diagnosis of OT during pregnancy is often missed due to nonspecific clinical features and uncommon objective findings. Detorsion only or detorsion plus ancillary procedures via laparoscopy is recommended to treat pregnant women suffering from OT, owing to the advantages of a shorter hospital stay and favorable surgical and pregnancy outcomes.

An analysis of risk factors for postoperative pelvic cellulitis after laparoscopic-assisted vaginal hysterectomy

2011-12-01

Abstract: Objective: To assess risk factors for postoperative pelvic cellulitis in women undergoing laparoscopic-assisted vaginal hysterectomy (LAVH).Materials and Methods: A total of 195 patients who underwent LAVH for benign gynecological diseases during the period 2007–2008 were enrolled. Among them, 11 patients developed pelvic cellulitis (group 1, cases) and 184 did not (group 2, controls).Results: The proportion of patients in American Society of Anesthesiologists physical status scale (ASA) class II was significantly higher in group 1 (p=0.017). The grade of pelvic adhesion was significantly more severe in group 1 (p=0.044). The mean length of hospital stay in group 1 was significantly longer than in group 2. Logistic regression analysis revealed that patients in ASA class II were six times more likely to develop postoperative pelvic cellulitis than patients in ASA class I. In addition, the analysis showed that there was a twofold increase in risk for pelvic cellulitis with each single-grade increase in the degree of pelvic adhesion. Women with postoperative pelvic cellulitis also had a significantly increased length of hospital stay.Conclusion: Understanding the risk factors for postoperative pelvic infection, such as systemic disease, pelvic adhesion, and prolonged hospital stay, comprehensive care of patients, and correction of modifiable risk factors will help reduce the rate of postoperative pelvic cellulitis in women undergoing LAVH.

Preimplantation and prenatal genetic diagnosis of aromatic L-amino acid decarboxylase deficiency with an amplification refractory mutation system-quantitative polymerase chain reaction

2011-12-01

Abstract: Objectives: To develop a diagnostic platform for preimplantation genetic diagnosis (PGD) and prenatal genetic diagnosis (PND) to prevent births of aromatic L-amino acid decarboxylase deficiency (AADC) patients.Materials and Methods: Five Taiwanese families carrying AADC were enrolled. A novel technique, amplification refractory mutation system-quantitative polymerase chain reaction (ARMS-qPCR), was developed for both of PGD and PND. For PGD, blastomere biopsies of day-3 cleavage-stage embryos were subjected to ARMS-qPCR. Villi, cultured amniocytes, or both were used to confirm the PGD result; this approach could also be used as the sole method for PND after in vivo conception).Results: Unaffected live births were achieved in four of the five families, except one with ongoing PGD. The ARMS-qPCR correctly classified blastomeres (from day-3 cleavage-stage embryos) as affected (homozygous mutant), carrier (heterozygous for mutant and wild-type alleles), or normal (homozygous wild-type) within 1 working day.Conclusions: To our knowledge, this is the first report of successful PGD of AADC. The molecular technique we devised (ARMS-qPCR) was applicable for PGD as well as PND of AADC. Furthermore, it has great potential for similar applications in other monogenic disorders.

Non-classical estrogen receptors action on human dermal fibroblasts

2011-12-01

Abstract: Objective: To study the possible non-genomic effect of selective estrogen receptor modulators on human dermal fibroblasts (HDF).Materials and Methods: WS1 cells were used to test the effect of raloxifene. The mRNA expressions of estrogen receptor (ER) α and β and G protein-coupled ER 1(GRP30) were examined by reverse transcription polymerase chain reaction. Apoptosis was identified by TUNEL assay and FACS analysis. MAPK and PI3 K/Akt pathways were determined by immunoblotting analysis.Results: Neither ERα nor ERβ, but GPR30 was detected in WS1 cells. Raloxifene increased apoptosis, which was blocked by pertussis toxin, an inhibitor of G protein, or by LY294002. Phosphorylated p38 MAPK and Akt were also increased after raloxifene treatment.Conclusion: SERMs could induce apoptosis of HDF through G protein and PI3 K/Akt signaling, which may help understand the role of SERMs on the skin.

Double aneuploidy with Edwards–Klinefelter syndromes (48,XXY,+18) of maternal origin: Prenatal diagnosis and molecular cytogenetic characterization in a fetus with arthrogryposis of the left wrist and aplasia of the left thumb

2011-12-01

Abstract: Objective: To present the prenatal diagnosis and molecular investigation of the parental origin and mechanism of nondisjunction underlying an 48,XXY,+18 karyotype in a fetus with congenital abnormalities, and to review the literature.Materials, Methods, and Results: A 42-year-old woman was referred for amniocentesis at 18 weeks of gestation because of advanced maternal age. Prenatal ultrasound revealed bilateral choroid plexus cysts. Amniocentesis revealed a karyotype of 48,XXY,+18. The parental karyotypes were normal. Level II ultrasound revealed a flexion contracture deformity of the left wrist with absence of the thumb. The pregnancy was terminated at 22 weeks of gestation. A 332 g male fetus was delivered with clenched hands, arthrogryposis of the left wrist, aplasia of the left thumb, micrognathia, low-set ears, hypertelorism, rocker-bottom feet, and a normal penis. Quantitative fluorescent polymerase chain reaction assays using polymorphic DNA markers showed a triallelic pattern with a dosage ratio of 1:1:1 (paternal:maternal:maternal) for chromosome 18-specific markers, and a monoallelic pattern of a single maternal allele for chromosome X-specific markers. The fetus inherited two copies of two different maternal alleles on chromosome 18, and two copies of a single maternal allele on chromosome X. The molecular result, along with the karyotype of 48,XXY,+18, was consistent with the occurrence of nondisjunction of chromosome 18 in a maternal meiosis I error and nondisjunction of chromosome X in a maternal meiosis II error or less likely a postzygotic mitotic error.Conclusion: The present case provides evidence that abnormal separation of chromosomes 18 and X resulting in double aneuploidy may occur in different cell divisions, and such an occurrence is related to advanced maternal age.

Mosaic deletion-duplication syndrome of chromosome 3: Prenatal molecular cytogenetic diagnosis using cultured and uncultured amniocytes and association with fetoplacental discrepancy

2011-12-01

Abstract: Objective: To present prenatal molecular cytogenetic diagnosis of mosaicism for terminal 3p deletion and distal 3q duplication using cultured and uncultured amniocytes, and the association with fetoplacental discrepancy.Materials, Methods, and Results: A 35-year-old primigravid woman was referred for genetic counseling at 21 weeks of gestation because of 20% (5/25 colonies) mosaicism for add(3)(p26) detected by amniocentesis. Repeated amniocenteses were performed. Array comparative genomic hybridization (aCGH) and interphase fluorescence in situ hybridization (FISH) were applied in the uncultured amniocytes. aCGH analysis detected 0.15-Mb microdeletion of 3p26.3 with CHL1 haploinsufficiency and a 49.42-Mb duplication of 3q24-q29 in the uncultured amniocytes. Interphase FISH analysis revealed 27.3% mosaicism (12/44 cells) in the uncultured amniocytes. Metaphase FISH analysis revealed 23.3% mosaicism (7/30 cells) in the cultured amniocytes. Conventional cytogenetic analysis showed a karyotype of 46,XX,der(3)(qter → q24::p26.3 → qter)[10]/46,XX[20] (33% mosaicism). Subsequent fetal blood sampling showed a karyotype of 46,XX,der(3) (qter→q24::p26.3→qter)[5]/46,XX[35] (12.5% mosaicism). The parents elected to terminate the pregnancy, and a malformed fetus was delivered at 24 weeks of gestation with characteristic facial dysmorphism and clinodactyly of the hands. Cytogenetic analysis of the extraembryonic tissues revealed the results of 46,XX (40 cells) in placenta, 25% mosaicism (10/40 cells) in amniotic membrane and 50% mosaicism (20/40 cells) in umbilical cord.Conclusion: Our presentation highlights the utility of molecular cytogenetic technologies in prenatal diagnosis of rare mosaic chromosome rearrangements and provides evidence for fetoplacental discrepancy under such circumstances.

A de novo duplication of chromosome 21q22.11→qter associated with Down syndrome: Prenatal diagnosis, molecular cytogenetic characterization and fetal ultrasound findings

2011-12-01

Abstract: Objectives: To present prenatal diagnosis and molecular cytogenetic characterization of de novo partial partial trisomy 21q (21q22.11→qter) associated with clinodactyly and hypoplastic midphalanx of the fifth fingers, midface hypoplasia, and an intracardiac echogenic focus on prenatal ultrasound.Materials, Methods, and Results: A 34-year-old gravida 2, para 1 woman underwent amniocentesis at 20 weeks of gestation because of fetal structural abnormalities on prenatal ultrasound. A level II ultrasound at 20 weeks of gestation showed polyhydramnios, clinodactyly and hypoplastic midphalanx of the fifth fingers, midface hypoplasia, and an intracardiac echogenic focus. Amniocentesis revealed an aberrant derivative chromosome 9, or der(9). Parental karyotypes were normal. Spectral karyotyping (SKY) and fluorescence in situ hybridization (FISH) analyses revealed that the der(9) contained a segment of chromosome 21 distal to chromosome 9q, and FISH analysis additionally showed that the distal subtelomeric region of 9q was not deleted. Array comparative genomic hybridization (aCGH) demonstrated a 14.8-Mb duplication of distal 21q encompassing the Down syndrome critical region (DSCR) but no genomic imbalance in the distal euchromatic region of chromosome 9. The karyotype was 46,XX,der(9)t(9;21) (q34.3;q22.11)dn. Polymorphic DNA marker analysis revealed the maternal origin of the aberrant chromosome. The pregnancy was subsequently terminated. A malformed female fetus was delivered with a characteristic phenotype of Down syndrome.Conclusion: SKY, FISH and aCGH are useful in prenatal investigation of the nature of a de novo aberrant derivative chromosome. Partial trisomy 21q encompassing the DSCR may present characteristic Down syndrome features on prenatal ultrasound.

Universal insertion/deletion-enrich PCR

Chi-Kuan Chen, Jr-Kai Huang — 2011-12-01

Abstract: Objective: Insertions and deletions (indels) are sometimes critical genetic events and can lead to various diseases. Identifying indel types by DNA sequencing is difficult and labor intensive. The sensitivity of DNA sequencing techniques such as Sanger’s direct sequencing, which broadly screens all types of microindels in predefined areas, is somewhat limited. Other techniques such as indel variant-specific primer sets are sensitive and specific, but are expensive, labor intensive, less efficient and only cover known indel variants.Materials and Methods: We report on the universal insertion/deletion-enrich PCR (Unindel-PCR) which has ultra-high sensitivity and can be used to screen for known and unknown indels in a predefined area. In brief, the Unindel-PCR consists of one forward, one reverse and one blocking primer. At very condition, blocking primer is superior to forward primer in recognizing the wild-type template and prevent nucleotide extension and wild-type amplification during PCR cycles. Conversely, forward primer is superior to blocking primer in recognizing the indel template and promote indel-type amplification during PCR cycles.Results: Unindel-PCR performs well in detecting any indels in a wild-type background. The sensitivity is 1% in Unindel-PCR and 0.01% in nested Unindel-PCR. The wild-type inhibition capacity of Unindel-PCR is 107. One thousand copies of deletion type plasmids are sufficient for detection by Unindel-PCR, whereas nested Unindel-PCR requires only 10 copies.Conclusion: Unidel-PCR will remold the capability of PCR-based genetic testing, especially in the field of cancer molecular diagnosis, infectious disease and identification of minor populations of alternative splicing variants of RNA transcribed.

Vulvar yolk sac tumor mixed with embryonal carcinoma in a peri-pubertal girl: A case report

2011-12-01

Abstract: Objective: Vulvar cancer is rare in Eastern females, especially in pre- and peripubertal girls. The prognosis of vulvar cancer is poor and treatment is variable.Case Report: A 14-year-old girl suffered from a left vulvar tenderness mass and underwent excision of the mass. The diagnosis of the pathology was vulvar yolk tumor with an embryonal carcinoma. After the vulvectomy, inguinal area lymph node dissection, chemotherapy (bleomycin, etoposide and cisplatin) treatment and radiotherapy, metastasis to lung was also noted after eight months. Resection of lung tumor was performed. She received chemotherapy with a combination of paclitaxel, ifosphamide and cisplatin (TIP) and received peripheral blood stem cell transplantation (PBSCT) twice and chemotherapy treatment of gemitabine and oxaliplatin (GEMOX). Up until now, the patient has been free of disease.Conclusion: High-dose TIP and GEMOX chemotherapy plus PBSCT for bone marrow rescues could be considered to treat patients with metastatic malignant vulvar germ cell tumor after failed first-line chemotherapy and radiation.

Wolf-Hirschhorn (4p-) syndrome: Prenatal diagnosis, molecular cytogenetic characterization and association with a 1.2-Mb microduplication at 8p22-p21.3 and a 1.1-Mb microduplication at 10p15.3 in a fetus with an apparently pure 4p deletion

2011-12-01

Abstract: Objective: To present prenatal diagnosis and molecular cytogenetic characterization of Wolf-Hirschhorn syndrome (WHS) associated with microduplications at 8p and 10p in a fetus with an apparently pure 4p deletion.Case Report: A 35-year-old gravida 2, para 1 woman underwent amniocentesis at 18 weeks of gestation because of advanced maternal age. Her husband was 38 years of age. There was no family history of congenital malformations. Amniocentesis revealed a karyotype of 46,XY,del(4p16.1). The parental karyotypes were normal. Array comparative genomic hybridization (aCGH) analysis revealed a 6.5-Mb deletion at 4p16.3-p16.1, a 1.2-Mb microduplication at 8p22-p21.3, and a 1.1-Mb microduplication at 10p15.3, or arr cgh 4p16.3p16.1 (0–6,531,998 bp)×1, 8p22p21.3 (18,705,388–19,940,445 bp)×3, 10p15.3 (0–1,105,065 bp)×3. Polymorphic DNA marker analysis confirmed a paternal origin of 4p deletion. Prenatal ultrasound revealed facial dysmorphism and hypospadias. The aCGH analysis of the parents revealed no genomic imbalance. Fluorescence in situ hybridization study showed an unbalanced reciprocal translocation between chromosomes 4 and 10 at bands 4p16.1 and 10p15.3. The cytogenetic result, thus, was 46,XY,der(4)t(4;10)(p16.1;p15.3),dup(8)(p21.3p22). The parents elected to terminate the pregnancy, and a 470-g malformed fetus was delivered.Conclusion: The present case provides evidence that an apparently pure 4p deletion can be associated with subtle chromosome imbalances in other chromosomes.

Presacral teratoma in a Curarrino syndrome woman with an unreported insertion in MNX1 gene

Yi-Hsin Lin, Rui-Lan Huang, Hung-Cheng Lai — 2011-12-01

Abstract: Objective: Currarino syndrome (CS) comprises a presacral mass, anorectal malformation, and a sacral bony defect. It is rarely reported in the gynecological field.Case Report: We describe here the case of a 26-year-old married woman with Currarino syndrome who presented with a presacral teratoma and a previously unreported insertion in MNX1 gene. She had had a pelvic teratoma diagnosed by laparoscopy 8 years previously. She was referred to our clinic because of the increasing size of the teratoma and associated compression symptoms. Computed tomography demonstrated a heterogeneous 12 cm mass in the presacral region. Spina bifida at S2eS5 was also noted. Laparotomy confirmed the diagnosis of presacral teratoma. Genetic analysis disclosed a triple CGC repeat insertion in exon 1 of MNX1, resulting in three in-frame shifts encoding for the amino acid alanine. No siblings had known similar symptoms.Conclusion: Currarino syndrome is known to be an autosomal dominant disorder. The presence of constipation can lead to a diagnosis of the syndrome early in childhood. In sporadic cases diagnosis is late because of atypical symptoms. Delayed treatment of a presacral tumor may cause serious complications such as central nervous system infection or subsequent neurological dysfunction. In clinical practice, a presacral tumor with a sacral bony defect may indicate Currarino syndrome. Genetic analysis of the family may provide information on the hereditary traits of specific MNX1 mutation.

Impact of anesthetic methods on neonatal outcome in women receiving temporary balloon occlusion of the common iliac artery during cesarean section for placenta accreta

Jheng-Yan Lan, Mao-Hsien Wang, Shou-Zen Fan, Li-Kuei Chen — 2011-12-01

Abstract: Objective: Placenta accreta is associated with significant maternal morbidity and is the leading indication for peripartum hysterectomy. In our institution, occlusion balloon catheters are commonly placed in bilateral common iliac arteries in order to reduce blood loss and facilitate surgery in patients with this obstetric complication. Few studies, however, have evaluated the effect of different anesthetic methods for cesarean hysterectomy on neonatal outcome. In this study, we compared Apgar scores among neonates born to mothers under general anesthesia with those who received regional anesthesia.Case Reports: A retrospective analysis of 19 women with placenta accreta/percreta who underwent cesarean hysterectomy in our hospital, revealed that the 1-minute Apgar score was <7 in 4/12 neonates born to women who underwent general anesthesia and in 1/7 neonates born to mothers who received regional anesthesia. The 5-minute Apgar score was >7 after immediate resuscitation in all neonates. There were no significant differences in demographic data, induction-to-delivery period, or Apgar scores between the general and the regional anesthesia groups.Conclusion: We acknowledge that the retrospective nature of this study makes it difficult to conclude whether the different anesthesia management strategies had an impact on Apgar score; however, according to our clinical observation, regional anesthesia may be a better alternative in the induction-to-delivery period, especially for women with accreta/percreta and in situations in which poor neonatal outcome is expected.

Uterine adenosarcoma with ovarian sex cord-like differentiation: A case report and review of the literature

2011-12-01

Abstract: Objectives: To determine the prognosis of uterine adenosarcoma with ovarian sex cord like-differentiation after treatment and to review the literature.Case Report: A 47-year-old premenopausal unmarried woman presented with irregular menstrual bleeding and uterine mass. Sonographic examination, suggested two uterine fibroids located in the uterine fundus and cervix measuring 4 × 3 cm and 3 × 3 cm, respectively. Total abdominal hysterectomy with bilateral salpingo-oopherectomy was performed and the histopathology report confirmed the diagnosis of uterine adenosarcoma with ovarian sex cord like-differentiation. The patient received neither chemotherapy nor other adjuvant therapy because the tumor had low malignant potential, and the extent of myometrial invasion was less than half of the whole myometrium. The patient had an uneventful recovery, and no recurrence was detected for 2 years in the follow-up period.Conclusion: Uterine adenosarcomas mostly have relatively low malignant potential. Surgery is the optimal standard treatment for patients. Although there is not enough data in the present literature, benign epithelial differentiations, such as sex cord-like elements may reflect the behaviour of the tumour and shows the tendency to have a benign course in most of cases.

Rapidly growing ovarian endometrioid adenocarcinoma involving the vagina: A case report

Sunghun Na, Jongyun Hwang, Hyangah Lee, Jiyeon Lee, Dongheon Lee — 2011-12-01

Abstract: Objective: We present a rare case of a very rapidly growing stage IV ovarian endometrioid adenocarcinoma involving the uterine cervix and vagina without lymph node involvement.Case Report: A 43-year-old woman visited the hospital with complaints of lower abdominal discomfort and vaginal bleeding over the previous 3 months. Serum levels of tumor marker CA 125 and SCC antigen (TA-4) were normal. On magnetic resonance imaging, a 7.9×9.7cm heterogeneous mass with intermediate signal intensity was observed in the posterior low body of the uterus. Two months ago, a computed tomography scan revealed an approximate 4.5×3.0cm heterogeneously enhanced subserosal mass with internal ill-defined hypodensities. A laparotomy, including a total abdominal hysterectomy with resection of the upper vagina, bilateral salpingo-oophorectomy, pelvic and para-aortic lymph node dissection, appendectomy, total omentectomy, and biopsy of rectal serosa was performed. A histological examination revealed poorly differentiated endometrioid ovarian adenocarcinoma with vaginal involvement. The patient had an uncomplicated post-operative course. After discharge, she completed six cycles of adjuvant chemotherapy with paclitaxel (175mg/m2) and carboplatin (300mg/m2) and has remained clinically disease-free until June 2010.Conclusion: Epithelial ovarian cancer may grow very rapidly. The frequent measurement of tumor size by ultrasonography may provide important information on detection in a subset of ovarian carcinomas that develop from preexisting, detectable lesions.

Prenatal diagnosis of a de novo interstitial deletion of chromosome 20q12 in a fetus with complex congenital heart defects, corpus callosum agenesis and intrauterine growth restriction

2011-12-01

A 22-year-old, gravida 2, para 1 patient was referred to the hospital at 26 gestational weeks, because of fetal anomaly. The parents were non-consanguineous and healthy. The mother denied any exposure to alcohol, teratogenic agents, irradiation or infectious diseases during this pregnancy. Level II ultrasonography at 26 gestational weeks, revealed a growth-restricted fetus with a biparietal diameter of 5.9cm (equivalent to 23 gestational weeks), and abdominal circumference of 17.4cm (equivalent to 23 gestational weeks), a femur length of 3.9cm (equivalent to 23 gestational weeks), atrioventricular septal defects and corpus callosum agenesis. Genetic amniocentesis revealed an interstitial deletion of the band 20q12, or 46,XY,del(20)(q11.2q13.1) (). The parental karyotypes were normal. Despite genetic counseling of an unfavorable outcome, the parents opted to continue the pregnancy. The proband was delivered at 38 weeks’ gestation with a birth body weight of 2050g (< 5th centile), body length of 44cm (< 5th centile) and head circumference of 29cm (< 5th centile). The Apgar scores were 5 and 7 at 1 and 5 minutes, respectively. At birth, the male baby manifested low set ears, hypertelorism, epicanthal folds, a broad and flat nasal bridge, anteverted nostrils, and cleft palate. Postnatal echocardiography showed atrioventricular septal defects, tricuspid regurgitation, and patent ductus arteriosus. He underwent surgical corrections for the complex heart defects but died of postoperative complications at the age of 7 months.

Complete bilateral ureteral obstruction following retrograde catheterization and radical hysterectomy

Mun-Kun Hong, Tang-Yuan Chu, Pao-Chu Chen — 2011-12-01

An 89kg, 39-year-old, previously healthy, obese woman was admitted to our ward owing to squamous cell carcinoma of the cervix, the International Federation of Gynecology and Obstetrics (FIGO) stage IIa2. She was scheduled for an radical hysterectomy, bilateral pelvic lymph node dissection and ovarian transposition. Preoperative laboratory data, including a hematogram, biochemical, and coagulation test results were normal. Before the operation, cystoscopy was performed and two 5-Fr side-hole ureteral catheters were smoothly inserted into each of the ureters to a length of 20cm. Owing to severe pelvic adhesions and obesity, the operation took 245minutes and blood loss was 800ml. Hematuria was noted during the isolation of the ureters and unroofing of the tunnels. To control bleeding, Transamine-S (Taiwan) 1gm q8h i.v. was administered for 48 hours. Naproxen 20mg tid and Ketorolac 30mg i.v. q6h were prescribed before and after the operation for pain control. During the first 24 hours after operation, 2110mL of bloody urine was collected, but was followed immediately by oliguria, and then anuria. The situation did not improve upon replacement of the Foley catheter, fluid challenge, and the use of a diuretic. Blood urea nitrogen (BUN) and creatinine levels increased to 10mg/dL and 2.0mg/dL, respectively (from 9mg/dL and 0.7mg/dL before the operation). Meanwhile, the patient was looking well with no specific complaints other than wound pain. Her vital signs were stable, and a postoperative hematogram revealed that hemoglobin and hematocrit levels had dropped to 11.0g/dL and 32.8% (from 14.2g/dL and 42.6% before the operation). Under the impression of acute obstructive nephropathy, an emergent abdominal computed tomography (CT) without contrast was ordered; it revealed mild bilateral hydronephrosis (). Cystoscopy and ureteroscopy showed the occlusion of bilateral ureters by blood clots with minimal edema of the orifices (). External compression was noticed near the right ureteral orifice (). Double J stents were inserted smoothly and 8100mL of urine was collected in the following 24hours. The levels of BUN and creatinine returned to normal (8mg/dL and 0.9mg/dL, respectively) two days later. The patient had a good recovery and the double J stents were removed one month later.

Mesentery band-like adhesion which caused entrapment of duodenum at 32 gestational weeks

2011-12-01

A wide variety of diseases, including disorders of the gynecologic, gastrointestinal, and genitourinary systems, can present with abdominal pain during pregnancy. Clinical diagnosis of intra-abdominal pathologic conditions in pregnant women is complicated by concurrent maternal physiologic and anatomic changes. Numerous physiologic changes in pregnancy may affect the presentation of abdominal pain in pregnancy. The diagnosis is usually made on a thorough history (including a gynecologic history) and physical exam (including a pelvic exam). Laboratory investigations will support the diagnosis and help guide the resuscitation and management.

Urinary ascites with elevated blood creatinine following cesarean section indicating bladder injury

Po-Chun Ko, Tsia-Shu Lo, Kiran Ashok — 2011-12-01

Bladder injury at the time of cesarean section (CS) is an infrequent occurrence . During the past five decades, there has been a steady increase in the incidence of CS worldwide. As a result, the complications associated with CS have gained enormous importance. Unrecognized bladder injury during CS can lead to vesico-vaginal fistula, vesical calculi, menuria without urinary incontinence secondary to a vesico-uterine fistula, and urinary ascites or uroascites, as in our case .

Laparoscopic diagnosis of tuberculous peritonitis mimicking ovarian malignancy

Dah-Ching Ding, Tang-Yuan Chu — 2011-12-01

Tuberculosis (TB) is a major public health concern worldwide. Roughly 8 million–10 million people contract TB annually, and at least 2 million die from this disease each year . In Taiwan, TB kills over 700 people annually . The disease affects people of all ages and may involve various body locations. Although the lungs remain the most common site of infection, extra-pulmonary infection via hematogenous spread is becoming increasingly prevalent. In developing countries, genital TB is seen mostly in young women aged 15–25 years . In developed countries, most genital TB is seen in postmenopausal women . Laparoscopy is an efficient and safe surgical approach to obtain tissue samples for histological diagnosis of peritoneal TB .

Squamous cell carcinoma arising from an ovarian teratoma related to human papillomavirus infection: Using a PCR-based reverse-blot assay

2011-12-01

Ovarian teratoma is generally a benign disease but secondary malignant transformation within the tumor may take place in postmenopausal women in rare cases. Squamous cell carcinoma (SCC) accounts for approximately 80% of the malignant transformations . A possible connection between SCC arising from an ovarian teratoma and human papillomavirus (HPV) infection was first published by Mai et al. . To the best of our knowledge, there have only been four confirmed cases of the high-risk HPV type in ovarian SCC diagnosed using the HPV typing or staining method . Here, we present the case of a woman of childbearing age diagnosed of ovarian teratoma with SCC malignant transformation. The polymerase chain reaction (PCR)-based reverse-blot assay, a highly specific method, showed no expression of HPV in the ovarian SCC but was positive in the cervix.

Synchronous primary ovarian granulosa cell tumor and endometrial cancer

Ying-Cheng Lin, Tang-Yuan Chu, Dah-Ching Ding — 2011-12-01

Synchronous primary tumors of the genital tract are rare . The rate of synchronous gynecological malignancies is 0.7–1.8% in patients with gynecological tumors . Primary tumors of the ovary and endometrium are the most common synchronous tumors of the female genital tract . This report describes a case of synchronous granulosa cell tumor (GCT) and endometrial cancer in a 73-year-old woman.

Prenatal diagnosis of mosaic trisomy 9

2011-12-01

A 42-year-old, gravida 5, para 2, woman underwent amniocentesis at 18 weeks of gestation because of advanced maternal age. She had experienced two spontaneous abortions and had two healthy daughters. Her husband was 45 years old. There was no family history of congenital malformations. In six out of 15 separated colonies of cultured amniocytes, an abnormal karyotype of 47,XY,+9 was found (), while the other nine colonies had a karyotype of 46,XY. The cytogenetic result of amniocentesis was 47,XY,+9[6]/46,XY[9]. The parental karyotypes were normal. The woman requested a repeat amniocentesis at 20 weeks of gestation when the ultrasound revealed that the fetal biometry was equivalent to 18 weeks. Array comparative genomic hybridization (aCGH) analysis of uncultured amniocytes using oligonucleotide-based aCGH of CytoChip Oligo Array (BlueGnome, Cambridge, UK) revealed genomic imbalance and gene dosage increase in chromosome 9 (). Fluorescence in situ hybridization (FISH) analysis of uncultured interphase amniocytes using Vysis CEP 9 Alpha SpectrumOrange DNA probe (Vysis, Downers Grove, IL, USA) showed three signals in 12 out of 25 uncultured amniocytes and two signals in the remaining 13 amniocytes, indicating 48% (12/25) mosaicism for trisomy 9 (). Quantitative fluorescent polymerase chain reaction (QF-PCR) analysis of uncultured amniocytes using informative microsatellite markers specific for chromosome 9 revealed a diallelic pattern with unequal biparental inheritance of chromosome 9 with a dosage ratio of 1.66:1 (maternal: paternal), indicating a maternal origin of mosaic trisomy 9 (). Cytogenetic analysis of cultured amniocytes revealed a karyotype of 47,XY,+9[6]/46,XY[18]. The parents decided to terminate the pregnancy at 23 weeks of gestation. Prenatal ultrasound revealed a small-for-gestational-age fetus with fetal biometry equivalent to 21 weeks. A 482-g malformed fetus was delivered with hypertelorism, a large forehead, a bulbous nose, a broad nasal bridge, low-set posteriorly rotated ears, and a thin upper lip (). Uniparental disomy (UPD) 9 was excluded. Cytogenetic analyses of the fetal and extraembryonic tissues showed a karyotype of 47,XY+9[5]/46,XY[35] in the cord blood, a karyotype of 47,XY+9[5]/46,XY[35] in the umbilical cord, and a karyotype of 47,XY+9 (40 cells) in the placenta. The results of QF-PCR analyses of cultured amniocytes and uncultured umbilical cord were consistent with mosaic trisomy 9, and the result of QF-PCR analysis of uncultured placental tissues was consistent with trisomy 9 of maternal origin ().

Prenatal diagnosis of a de novo 17p13.1 microduplication in a fetus with ventriculomegaly and lissencephaly

2011-12-01

A 27-year-old, gravida 3, para 1, woman was referred to the hospital at 31 weeks of gestation because of abnormalities of the fetal brain. Her husband was 30 years old. The woman and her husband were non-consanguineous, and there was no family history of congenital malformations. The couple had a 9-year-old healthy son. The present pregnancy was uneventful until 31 weeks of gestation when ventriculomegaly and a small size for gestational age were noted in the fetus. The fetal biometry was equivalent to 29 weeks, and the fetal cerebral ventricle was prominently dilated (). Ultrafast fetal magnetic resonance imaging (MRI) scans showed a smooth agyric brain with a “figure-of-eight” appearance of the shallow sylvian fissure and a thick cortex (). The MRI findings were consistent with the diagnosis of lissencephaly. Fetal blood sampling revealed a karyotype of 46,XX. However, bacterial artificial chromosome (BAC)-based array comparative genomic hybridization (aCGH) analysis using CMDX BAC aCGH CA3000 Chips (CMDX, Irvine, CA, USA) revealed a 0.5-Mb microduplication at 17p13.1, or arr cgh 17p13.1p13.1 (RP11-736G8→RP11-8I18)×3 (). Oligonucleotide-based aCGH analysis using Human CGH 12×135K Whole-Genome Tiling Array V3.1 (Roche NimbleGen, Madison, WI, USA) revealed a 1.3-Mb microduplication at 17p13.1, or arr cgh 17p13.1p13.1 (9,730,710 – 11,014,931)×3 [University of California Santa Cruz (UCSC) genome browser on human, March 2006 (National Center for Biotechnology Information (NCBI) 36/human genome 18) assembly] (). The 1.3-Mb duplicated region encompasses the genes of GLP2R, RCVRN, GAS17, MYH1, MYH2, MYH3, MYH4, MYH8, SCO1 and PIRT. The parental karyotypes were normal. The aCGH analysis of the parental blood did not reveal such a duplication. At 34 weeks of gestation, a dead fetus weighing 1996g was delivered with hypertelorism, a depressed nasal bridge, a thin lip and enlarged low-set ears ().

First-trimester two-dimensional and three-dimensional ultrasound demonstration of craniofacial defects, abdominal wall defects and upper limb deficiency associated with limb–body wall complex

Chih-Ping Chen, Yi-Yung Chen, Jun-Wei Su, Wayseen Wang — 2011-12-01

A 35-year-old, primigravid woman was referred to the hospital at 13 weeks of gestation to evaluate fetal structural abnormalities. The father was aged 32 years. The mother reported no illness or recent infections. She had neither history of prenatal exposure to teratogenic agents nor any family history of congenital malformations. She had not undergone assisted reproductive technology for this pregnancy. Prenatal ultrasound at 13 and 14 weeks of gestation demonstrated a live fetus with attachment between the fetal head and the placenta, skull deformation, hydrocephalus, nasal hypoplasia, scoliosis, extracorporeal stomach, liver and intestines, deficiency of the left upper limb, and hypoplasia of the right upper extremities (). A diagnosis of limb–body wall complex (LBWC) with craniofacial defects was made. The pregnancy was terminated at 14 weeks of gestation, and a 50-g female fetus was delivered with an irregularly shaped skull, facial deformation, adhesive bands over the skull, nasal hypoplasia, scoliosis, absence of the left upper and lower arms, hypoplasia of the right lower arm, and eviscerated stomach, liver and intestines, but normal female external genitalia, anus, lower extremities and umbilical cord (). Cytogenetic analysis of the fetus revealed a karyotype of 46,XX.

Magnetic resonance imaging demonstration of sirenomelia in one fetus of a dizygotic twin pregnancy conceived by intracytoplasmic sperm injection, in vitro fertilization and embryo transfer

2011-12-01

A 32-year-old, primigravid woman presented with a twin pregnancy at 21 weeks of gestation for evaluation of oligohydramnios in one co-twin. The woman and her husband were healthy and non-consanguineous. There was no family history of congenital malformations, and the woman did not have diabetes mellitus. The woman had suffered from bilateral tubal occlusion and primary infertility. This was her first pregnancy that was conceived by intracytoplasmic sperm injection (ICSI), in vitro fertilization (IVF) and embryonic transfer (ET). Four embryos had been implanted and two survived. Level II ultrasound at 21 weeks of gestation revealed a normal co-twin and an abnormal co-twin with marked oligohydramnios, and absent kidneys and urinary tracts. Magnetic resonance imaging (MRI) evaluation of the fetuses at 31 weeks of gestation revealed a normal co-twin and an anomalous co-twin with oligohydramnios, pulmonary hypoplasia, a small stomach, ill-defined small bowel loops, absent bladder, renal agenesis and a single leg consistent with the diagnosis of sirenomelia (). The pregnancy was uneventful until 35 weeks of gestation when premature rupture of the membranes occurred. A 2128-g normal female co-twin and a 1576-g abnormal co-twin with a single lower extremity without the foot, an imperforate anus, absence of external genitalia and a single umbilical artery were delivered by cesarean section because of malpresentation. Postnatal X-ray examination of the abnormal infant showed sirenomelia with hypoplastic pelvis, absence of the right, lower limb and the left foot, and abnormal lumbosacral spine (). Cytogenetic analysis of the cord blood of the abnormal co-twin revealed a karyotype of 46,XX. A molecular zygosity test of the twins confirmed dizygotic twinning (). The abnormal co-twin died soon after birth (). The normal co-twin was doing well at the age of 4 months.