Search

Objective: We have recently reported that stress-induced phosphoprotein 1 (STIP1) is over-expressed in endometriosis/adenomyosis tissues. STIP1 may also be involved in immune regulation, thus we attempted to study the association between STIP1 single nucleotide polymorphisms (SNPs) and endometriosis/adenomyosis., Materials and Methods: Five STIP1 SNPs (rs7941773, rs2845597, rs4980524, rs2282490, and rs2236647) were selected for genotyping with matrix-assisted laser desorption ionization time-of-flight mass spectrometry (MALDI-TOF MS) in 286 patients with endometriosis/adenomyosis and 288 healthy postmenopausal controls. In vitro studies included luciferase promoter reporter assays and western blot analysis for STIP1 and MMP9 proteins., Results: The frequency of the G allele at rs4980524 was significantly higher in patients with endometriosis/adenomyosis than in control women. The promoter reporter with rs4980524 GG genotype significantly increased luciferase activity than that with TT genotype in endometrial cancer RL95-2 cells, and the primary endometrial stromal cells carrying rs4980524 GG genotype expressed higher protein levels of STIP1 and MMP9 than those carrying the TT one., Conclusion: The G/G allele of STIP1 SNP rs4980524 is associated with the increased expression of STIP1 and MMP9 in endometriosis. Further validation in independent cohorts of endometriosis patients may prove its usefulness as a genetic risk maker for endometriosis/adenomyosis., (Copyright © 2018. Published by Elsevier B.V.)

Objective: To study the difference of amniotic fluid stem cell potential at different gestational age., Materials and Methods: Second trimester amniocentesis was performed during 15 to 22nd week of gestational age in a single medical center from 2015 to 2016. Early second trimester amniotic fluid stem cells (E-AFS) and later one (L-AFS) were defined 15-18th week, and 19-22nd week, respectively. Cell characteristics, surface markers and ability to form induced pluripotent stem cells (iPS) were studied., Results: All the amniotic fluid stem cells samples could be isolated and cultured from second trimester amniocentesis. E-AFS showed more Ckit + cell, shorted doubling time, smaller cell size and higher cell density compared to L-AFS. Both groups had the same stem cell surface markers with highly expression of CD44, CD73, CD90, and CD105, negative for CD45. They can easily be reprogramed into amniotic fluid stem cell derived iPS via standard induction., Conclusion: Human amniotic fluid stem cells could be isolated from early or late second trimester amniocentesis with the similar stem cell surface markers presentation, especially in mesenchymal stem cells markers. However, the cells from early second trimester amniocentesis have more Ckit + number and more potential characteristics compared to late second trimester amniocentesis. Both E-AFS and L-AFS could form the iPS easily which lead to the future disease modeling study., (Copyright © 2017. Published by Elsevier B.V.)

Objective: Single-nucleotide polymorphism (SNP) microarrays and whole-exome sequencing (WES) are tools to precisely diagnose rare autosomal recessive (AR) diseases. In this study, SNP chip and WES were used to identify a mutated location in WDR34 in a baby born to consanguineous parents., Case Report: The baby, born at 36 gestational weeks had a small thoracic cage, symmetric short proximal bones, and polydactyly. Radiography showed short ribs with reduced lung volume and pulmonary opacities, compatible with asphyxiating thoracic dystrophy or short rib-polydactyly syndrome (SRPS). At 4 months of age, she died of pulmonary hypoplasia and sepsis. SNP microarray and evaluation tool confirmed WDR34 as the candidate gene. WES detected an AR mutation at c.554C > T [p.Arg182Trp] in WDR34., Conclusion: This study was the first to identify c.544C > T [p.Arg182Trp] mutation in WDR34 in a patient with SRPS. According to the database, the homozygous mutation of c.544C > T in WDR34 was deleterious and the prevalence of heterozygous mutation was relatively higher in Asian population. More studies of this mutation in patients with SRPS are required., (Copyright © 2017. Published by Elsevier B.V.)

Objective: To elucidate the etiologies of discordant trisomy 21 in monozygotic twin pregnancy., Case Report: A monochorionic diamniotic twin pregnancy with hydrops and cleft lip (twin 1) found in one fetus presented at gestational age of 17 weeks. Amniotic fluid karyotyping showed nonmosaic trisomy 21 in twin 1 (47, XY, +21 [20]) and a normal karyotype in twin 2 (46, XY [20]). Short tandem repeat (STR) polymorphism markers revealed that the two fetuses were monozygotic, and the two chromosomes 21 were maternal isodisomy in the trisomy fetus. The chromosomal constitution of placentas in the territory of trisomy 21 cotwin was 47, XY, +21 [20] and was a mosaic 47, XY+21 [12]/46, XY [8] in the normal karyotyped twin., Conclusion: Our case of monozygotic twin with discordant trisomy 21 might start with a prezygotic maternal meiosis II non-disjunction error-caused trisomy 21 zygote, and after twinning, one remained trisomy 21, and the other twin underwent trisomy rescue and became a mosaic trisomy 21 in morula or early blastocyst stage before the formation of pre-embryo, which subsequently resulted in mosaic trisomy 21 of the placental tissue and normal chromosomal constitution of the fetus., (Copyright © 2017. Published by Elsevier B.V.)

Objective: Fetuses with intrauterine growth restriction (IUGR) have adaptive hormonal changes including changes in insulin, which may increase their future risks for developing diabetes mellitus. This study compared cord blood insulin concentrations in IUGR and appropriate for gestational age (AGA) fetuses in a monochorionic (MC) twin model., Materials and Methods: Ten pairs were classified as selective IUGR (sIUGR) based on having one twin weight below the 10th percentile and with an intertwin birth weight discordance>20%. Fourteen pairs without IUGR were included as a comparison group. Pregnancies with twin-twin transfusion syndrome, congenital structural malformations, and genetic abnormalities were excluded. Insulin and glucose concentrations were measured in cord venous blood at the time of delivery., Results: Cord blood insulin concentrations of sIUGR fetuses were significantly lower than those of AGA counterpart fetuses in MC twins affected by sIUGR (5.1±4.1 mU/L, range: 0.7-9.9 mU/L for sIUGR fetuses and 12.2±7.6 mU/L, range: 3.5-23.7 mU/L for AGA fetuses, p=0.019). No significant difference in insulin concentrations between larger and smaller fetuses in MC twins without IUGR was observed. Insulin concentration was inversely correlated with gestational age of delivery in all fetuses except in those with sIUGR. We did not find any difference in cord blood glucose concentrations between the two fetuses in both groups., Conclusion: Our data show reduced insulin secretion and loss of the physiological decline in concentration over time as gestational age increases in fetuses with sIUGR compared to AGA counterparts., (Copyright © 2017 Taiwan Association of Obstetrics & Gynecology. Published by Elsevier B.V. All rights reserved.)

Objective: To evaluate the outcome of twin-twin transfusion syndrome (TTTS) treated by fetoscopic laser therapy (FLT) stratified by Quintero staging., Materials and Methods: A total of 100 TTTS cases treated by FLT, from October 2005 to August 2014, were included in this study. Cases were divided into first and second half periods to evaluate the learning effect-related outcomes, and logistic regression was applied to determine the independent factors in predicting the perinatal outcomes., Results: The total fetal survival rate was 68.5%, two fetal survival rate was 55%, and at least one fetal survival rate was 82%. High Quintero stage (Stages III and IV) and small gestational age at delivery were two independent factors predicting lower two fetal survivals. Gestational age at delivery was the only independent factor predicting at least one survival. The odds ratios of high Quintero stage predicting lower two fetal survivals were 11.3 (p<0.001) and 4.8 (p=0.043) in the first and second periods, respectively., Conclusion: High Quintero stage and small gestational age at delivery were associated with low two survival rate in TTTS treated by FLT; after gaining experience with FLT, the effect of high Quintero stage on lower two survival rate would decrease., (Copyright © 2016. Published by Elsevier B.V.)

The successful development of the proteasome inhibitor bortezomib as an anticancer drug has improved survival in patients with multiple myeloma. With the emergence of the newly US Food and Drug Administration-approved proteasome inhibitor carfilzomib, ongoing trials are investigating this compound and other proteasome inhibitors either alone or in combination with other chemotherapy drugs. However, in solid tumors, the efficacy of proteasome inhibitors has not lived up to expectations. Results regarding the potential clinical efficacy of bortezomib combined with other agents in the treatment of solid tumors are eagerly awaited. Recent identification of the molecular mechanisms (involving apoptosis and autophagy) by which bortezomib and cisplatin can overcome chemotherapy resistance and sensitize tumor cells to anticancer therapy can provide insights into the development of novel therapeutic strategies for patients with solid malignancies., (Copyright © 2016. Published by Elsevier B.V.)

Objectives: To investigate placental autophagic activity in cases of twin-twin transfusion syndrome (TTTS) after successful laser therapy and to evaluate the effect of intertwin anastomoses on discordant placenta autophagic activity in monochorionic twins with one twin exhibiting selective intrauterine growth restriction., Materials and Methods: Placenta samples were prospectively obtained from 11 cases of successful TTTS post-laser therapy with two living babies. Among these infants, five infants had selective intrauterine growth restriction (sIUGR), based on the definition of a birth weight below the 10(th) percentile. After protein extraction, western blot tests were used to determine the amount of placenta microtubule-associated protein 1A/1B-light chain 3 (LC3)-II protein in the two individual placenta territories of the twin pair. The LC3-II protein fold change ratio (FCR) in a twin pair was defined as the LC3-II protein fold value over β-actin of the smaller twin divided by the LC3-II protein fold value over β-actin of the larger twin., Results: The LC3-II FCRs were not significantly different between TTTS with sIUGR and TTTS without sIUGR, after successful laser therapy., Conclusion: The discordance of placenta autophagic activity in the monochorionic twin with sIUGR was reduced after laser coagulation of the intertwin anastomoses, which may result from the effect of correction of the discordant intertwin placenta perfusion., (Copyright © 2015. Published by Elsevier B.V.)

Objective: To identify candidate microRNAs (miRNAs) in the serum of patients with clear cell carcinomas in monitoring disease progression., Materials and Methods: The sera of patients with diagnosed ovarian clear cell carcinoma were collected from 2009 to 2012. Real-time quantitative polymerase chain reaction (PCR) analysis for 270 miRNAs was performed. To offset the potential extraction bias, an equal amount of Caenorhabditis elegans cel-miR-238 was added to each serum specimen before miRNA isolation. miRNA expression was analyzed using the ΔCt method, with cel-miR-238 as controls., Results: Twenty-one patients with clear cell carcinoma were included. In the discovery phase on four pairs of pre- and postoperative sera, 18 differentially expressed miRNAs were selected from 270 miRNAs. In the validation phase on an independent set of 11 pairs of pre- and postoperative sera, 4 miRNAs (hsa-miR-130a, hsa-miR-138, hsa-miR-187, and hsa-miR-202) were confirmed to be higher in the preoperative sera. In the application phase, hsa-miR-130a remained consistent with the different time points in seven of the 10 patients during clinical follow-up periods. More importantly, in three patients, hsa-miR-130a levels were elevated in early disease recurrences before CA125 was found to be elevated., Conclusion: Hsa-miR-130a may be a useful serum biomarker for detecting recurrence of ovarian clear cell cancer, and warrants further studies., (Copyright © 2014. Published by Elsevier B.V.)

Objective: Primary hyperparathyroidism (PHPT) is a rare clinical entity in reproductive women. Unusual hypercalcemia causing pancreatitis in the peripartum period carries significant morbidity to both the fetus and the mother., Case Report: A 38-year-old woman developed a morbid course of intractable intra-abdominal abscess by pancreatitis, hydronephrosis by renal lithiasis, and unusual neurological presentations soon after delivery. Serial serum calcium level and imaging studies lead to the final diagnosis of PHPT due to a parathyroid adenoma. Data on 14 patients who suffered from pancreatitis due to hyperparathyroidism were collected from a MEDLINE search. The reasons for delayed diagnosis and literature review of acute pancreatitis in PHPT are discussed., Conclusion: Hypercalcemia can be masked during pregnancy and in severe pancreatitis, as was detected in about half of the case series. Clinicians should have a high level of suspicion of parathyroid adenoma in cases with a profound pancreatitis. Timely diagnosis and early therapeutic intervention are important to resolve complications and improve the outcomes of mothers and fetuses., (Copyright © 2014. Published by Elsevier B.V.)

Objective: This study was aimed at detection of recurrent transmission of the 17q12 microdeletion in a fetus with congenital anomalies of the kidney and urinary tract., Materials and Methods: A 35-year-old woman was referred to the hospital at 20 weeks' gestation because of hydronephrosis in the fetus. The mother was normal and healthy. Her second child was a girl who had bilateral dysplastic kidneys that required hemodialysis, and died at the age of 5 years. During this pregnancy, the woman underwent amniocentesis at 18 weeks' gestation because of advanced maternal age. Cytogenetic analysis revealed a karyotype of 46,XY. Prenatal ultrasound showed left hydronephrosis with a tortuous ureter, right hydronephrosis, and increased echogenicity of the kidneys. Fetal magnetic resonance imaging showed right dilated renal calyces, left hydronephrosis, hydroureter, and multicystic kidney. The pregnancy was subsequently terminated. Array comparative genomic hybridization (aCGH) and fluorescence in situ hybridization were applied for genetic analysis using umbilical cord, maternal blood, and cultured amniocytes., Results: aCGH analysis on umbilical cord detected a 1.75-Mb deletion at 17q12 including haploinsufficiency of LHX1 and HNF1B. aCGH analysis on maternal blood detected a 1.54-Mb deletion at 17q12 including haploinsufficiency of LHX1 and HNF1B. Metaphase fluorescence in situ hybridization analysis on cultured amniocytes and maternal blood lymphocytes using 17q12-specific bacterial artificial chromosome probe showed 17q12 microdeletion in the fetus and the mother., Conclusion: Prenatal diagnosis of recurrent renal and urinary tract abnormalities in the fetus should include a differential diagnosis of familial 17q12 microdeletion., (Copyright © 2013. Published by Elsevier B.V.)

Objective: To determine the prevalence of preexisting antibodies against the pandemic 2009 Influenza A (H1N1) virus in pregnant women and to evaluate the seroprotection of the mothers and infants by a single injection of monovalent vaccine during the pandemic., Materials and Methods: Seropositivity rate of H1N1 among the nonvaccinated were compared with the vaccinated women. A single dose of vaccine, either nonadjuvanted AdimFlu-S or MF59-adjuvanted vaccine, was injected to the voluntarily vaccinated group. Maternal and cord blood sera were collected to evaluate the antibody response of the H1N1 virus. Seropositivity was defined as a hemagglutination inhibition titer to H1N1 (A/Taiwan/126/09) ≥ 1:40., Results: A total of 210 healthy, singleton, pregnant women were enrolled between January 2010 and May 2010. Seropositivity (≥ 1:40) of maternal hemagglutination inhibition was significantly higher in the vaccinated group (78%) than the nonvaccinated group (9.5%); 41.6% (20/48) of seropositive titers were >1:80. In nine vaccinated cases resulting in negative serum titers (<1:40), the prevalence of negative titer in the women received AdimFlu-S (14.8%, 4/31) was lower (p = 0.025) than those received MF59-adjuvanted vaccine (50%, 5/10)., Conclusions: Subclinical infection against H1N1 was low in Taiwanese pregnant women in the pandemic 2009. Seropositivity >75% could be achieved in the paired maternal and cord serum samples by a single injection of monovalent H1N1 vaccine., (Copyright © 2013. Published by Elsevier B.V.)

Objective: To investigate the relationship between single nucleotide polymorphisms (SNPs) of the genes encoding the estrogen receptor 1 (ESR1) and the receptor activator of nuclear factor kappa B ligand (RANKL) and bone mineral density (BMD) in postmenopausal Taiwanese., Materials and Methods: Five ESR1 SNPs and three RANKL SNPs in 467 women were genotyped. Results of genotyping were correlated with BMD that had been adjusted for body mass index (BMI), age, and years after menopause., Results: Those with the ESR1 Crs1884054 allele were found to have a lower BMD at LS2-4/Lateral view (p = 0.005 and permutated p = 0.046), and those with the ESR1 haplotype Trs2234693-Ars922996 had a higher risk for low BMD also at LS2-4/Lat (OR = 1.8, 95% CI = 1.1-2.9). In addition, women without the RANKL haplotype Grs2148072-Crs2200287-Grs922996 had a higher risk for low BMD at LS1-4/AP (OR = 2.09, 95% CI = 1.21 ∼ 3.64). Stratification analyses revealed that those with ESR1 AArs1884054 and RANKL Ars2148072 (p = 0.032) or RANKL Trs2200287 (p = 0.007) had a lower BMD at LS1-4/AP., Conclusion: Genotypes of these SNPs of ESR1 and RANKL may help us predict the osteoporosis risk in menopausal women., (Copyright © 2013. Published by Elsevier B.V.)

Objective: Stress-induced phosphoprotein 1 (STIP1) was recently identified as a potential tumor marker for human ovarian cancer. This study further evaluates the usefulness of STIP1 in ovarian tumor patients with normal CA125 serum levels., Materials and Methods: STIP1 and CA125 were immunohistochemically analyzed in 84 primary ovarian cancer and 30 benign ovarian tumors in patients with serum CA125 levels < 35 U/mL before surgery. Histoscores (0-300) were calculated as staining intensities (0-3) multiplied by percentage of tumor tissue (0-100%)., Results: The cell types of the 84 cancers included 11 serous, 10 clear-cell, 51 mucinous, and 12 endometrioid carcinomas. There were 55 patients with invasive cancer and 29 with borderline ovarian tumors. The histoscores of STIP1, but not of CA125, in invasive cancer (mean ± SD, 186.3 ± 82.5) were significantly (p < 0.0001) higher than those seen in borderline ovarian tumors (86.2 ± 85.5). When the STIP1 histoscore was set at 183.8, invasive cancers (n = 55) were identified from benign tumors (n = 30) with a sensitivity of 56.4%, a specificity of 93.3%, a positive predictive value of 93.9%, and a negative predictive value of 53.8%. Results of receiver operating characteristics analysis showed that the area under curve of the STIP1 histoscore was 0.755, which was superior to that of CA125 (0.599)., Conclusion: STIP1 histoscores may be useful in detecting invasive human ovarian cancer in patients with low serum CA125 levels., (Copyright © 2013. Published by Elsevier B.V.)

Objective: To test the hypothesis that human amniotic fluid mesenchymal stem cells contain a unique epigenetic signature in imprinting centers of H19, SNRPN, and KCNQ1OT1 during in vitro cell culture., Materials and Methods: By bisulfite genomic sequencing, we analyzed the imprinting centers of three imprinted genes (including H19, SNRPN, and KCNQ1OT/) in a total of six single-cell clones of human amniotic fluid mesenchymal stem cells at cell passages 7, 8, 9, and 10 during in vitro cell culture., Results: The imprinting centers of H19 and KCNQ1OT1 showed hypermethylation at passage 7 in all single-cell clones of human amniotic fluid mesenchymal stem cells, and there was no significant change in DNA methylation patterns during in vitro cell culture. The imprinting centers of SNRPN showed variable methylation patterns at passage 7 in six single-cell clones, and DNA methylation patterns varied during in vitro cell culture from passages 8 to 10., Conclusion: In conclusion, human amniotic fluid mesenchymal stem cells contain a unique epigenetic signature during in vitro cell culture. H19 and KCNQ1OT1 possessed a substantial degree of hypermethylation status, and variable DNA methylation patterns of SNRPN was observed during in vitro cell culture of human amniotic fluid mesenchymal stem cells. Our results urge further understanding of epigenetic status of human amniotic fluid mesenchymal stem cells before it is applied in cell replacement therapy., (Copyright © 2012. Published by Elsevier B.V.)

Objective: To explore the changes in placental gene expression between women with preeclampsia and those with superimposed preeclampsia on chronic hypertension., Materials and Methods: In Taiwanese population, we compared gene expression between the placentas from preeclamptic patients and those with superimposed preeclampsia on chronic hypertension., Results: Although top-ranked activated genes between preeclampsia and superimposed preeclampsia on chronic hypertension were different, functional network analyses indicate that these genes are mainly involved in the regulation of cell death and apoptosis. These results suggest that apoptosis and other types of cell death in the placenta are common consequences of both diseases. However, placental endoglin (ENG) was expressed at a significantly higher level in preeclampsia than in superimposed preeclampsia. Results of functional network analysis indicated that ENG may play a role in the pathogenesis of preeclampsia through its interference with the endothelial nitric oxide synthase-regulated vasodilation., Conclusion: Our results support the fact that ENG is the culprit for the development of preeclampsia. In addition, this study identifies several other genes in the placenta, which are transcriptionally regulated in pregnancy-related hypertensions., (Copyright © 2011. Published by Elsevier B.V.)

Objective: To present prenatal ultrasound findings and molecular diagnosis of microvillus inclusion disease, and to review the literature of abnormal prenatal ultrasound findings associated with congenital diarrhea., Materials, Methods and Results: A 21-year-old woman, gravida 1, para 0, had generalized bowel dilation of the fetus on prenatal ultrasound at 29 gestational weeks. She and her husband were non-consanguineous, and there was no family history of congenital diarrhea. Prenatal ultrasound at 29 gestational weeks revealed a honeycomb appearance of the bowel without ascites or intraperitoneal calcification. At 36 gestational weeks, polyhydramnios dilated bowel loops were observed, and a 3,355-g male baby was delivered with a distended abdomen. Postnatally, the neonate suffered from watery diarrhea and abdominal distension but there was no mechanical bowel obstruction. An endoscopic biopsy of the small bowel revealed intracytoplasmic inclusions lined by intact microvilli in the apical surface of the intestinal epithelial cells consistent with the diagnosis of microvillus inclusion disease. Mutation analysis of blood samples of the neonate and parents revealed a heterozygous nonsense mutation of c.445C

Genome-wide association studies (GWAS) use high-throughput genotyping technology to relate hundreds of thousands of genetic markers (genotypes) to clinical conditions and measurable traits (phenotypes). This review is intended to serve as an introduction to GWAS for clinicians, to allow them to better appreciate the value and limitations of GWAS for genotype-disease association studies. The input of clinicians is vital for GWAS, since disease heterogeneity is frequently a confounding factor that can only really be solved by clinicians. For diseases that are difficult to diagnose, clinicians should ensure that the cases do indeed have the disease; for common diseases, clinicians should ensure that the controls are truly disease-free.

Objective: To present the clinical and molecular features of a fetus with confined trisomy 16 mosaicism with maternal uniparental disomy (UPD), using various prenatal diagnostic techniques., Materials and Methods: Chromosomal karyotyping was performed on samples of chorionic villi, amniotic fluid cells, amniotic membrane, umbilical cord, fetal skin, and placenta from a fetus with elevated nuchal translucency. Polymorphic short tandem repeat markers and Affymetrix single nucleotide polymorphism (SNP) mapping chips were used for molecular analyses., Results: Karyotypes from chorionic villi and amniocytes showed 47,XX,+16 and 46,XX, respectively. Short tandem repeat markers on chromosome 16 suggested maternal UPD for chromosome 16. Affymetrix 10K SNP mapping chips were used to simultaneously confirm the difference in karyotypes between the placenta and amniocytes and to diagnose UPD for chromosome 16. Fetal ultrasonography and magnetic resonance imaging identified severe intrauterine growth restriction (IUGR). Autopsy revealed IUGR, incomplete lobulation of bilateral lungs, and malrotation of the intestines. The karyotypes of umbilical cord, fetal skin and amniotic membrane were 46,XX, and the trisomy 16 karyotype appeared to be confined to the placenta., Conclusion: UPD should be investigated as a possible etiology in all cases of unexplained IUGR. SNP microarrays can be useful for confirming this diagnosis.

Objective: Meconium peritonitis (MP) is a chemical peritonitis caused by fetal intestinal perforation in utero. Its incidence is rare, but serious neonatal morbidity or even mortality can occur if the diagnosis is not made until after birth. Prenatal diagnosis is important in prompting early postnatal surgical intervention, and so improving neonatal outcome., Materials and Methods: Fourteen cases diagnosed in utero with MP from January 1996 to December 2005 were enrolled in this study. The final diagnoses were established by surgical findings or postnatal radiography. The prenatal ultrasound features, neonatal birth characteristics, surgical findings, postnatal management and neonatal outcomes were reviewed., Results: All infants received follow-up care at our hospital. Prenatal ultrasound findings included fetal ascites (100%), intra-abdominal calcification (93%), dilated bowel loops (57%), pseudocysts (29%), and polyhydramnios (50%). Four infants (4/14; 28.5%) did not undergo postnatal surgery, but survived well. The mean gestational age at detection was significantly earlier in the non-surgery group (23+/-3.6 weeks) than in the surgery group (31.7+/-2.5 weeks). One infant (7.1%) died because of sepsis after two neonatal operations. The overall survival rate was 92.9%., Conclusion: MP can be diagnosed by prenatal ultrasound, and the neonatal outcome is favorable. Early detection is not associated with poor neonatal outcome, and selective termination is unnecessary. Resolution of dilated bowel loops and polyhydramnios predict a low rate of postnatal surgical intervention.

Objective: Whole genome amplification (WGA) is a crucial procedure for genomic DNA analysis from limited sources, such as in forensic analysis, embryo biopsy for preimplantation genetic diagnosis, or needle aspiration biopsies. Several strategies for WGA have been developed for either genotyping or microarray-based comparative genome hybridization (array-CGH) during the past decade. Nevertheless, there were few studies in which various WGA methods had been performed side-by-side and results evaluated with multiple methods., Materials and Methods: Ease of performance, qualitative accuracy, and quantitative fidelity of different WGA methods, such as degenerate oligonucleotide-primed polymerase chain reaction (DOP-PCR), ligation-mediated PCR (LM-PCR) and strand displacement amplification (SDA), were compared in amplifying genomic DNA derived from karyotype-confirmed amniocytes and the cancer cell line SAOS2., Results: Using analysis with microsatellite markers, single nucleotide polymorphism markers, and array-CGH, our results suggested that: (1) genomic DNA amplified from DOP-PCR resulted in false positive and negative results by analysis with array-CGH; (2) SDA is the easiest performance method among the three WGA methods; and (3) amplified DNA products generated by LM-PCR best reflect the original genomic DNA., Conclusion: The amplified DNA products generated by LM-PCR best reflect the original genomic DNA.

Cervical cancer is one of the leading female cancers in Taiwan and ranks as the fifth cause of cancer death in the female population. Human papillomavirus has been established as the causative agent for cervical neoplasia and cervical cancer. However, the tumor biology involved in the prognoses of different cell types in early cancers and tumor responses to radiation in advanced cancers remain largely unknown. The introduction of microarray technologies in the 1990s has provided genome-wide strategies for searching tens of thousands of genes simultaneously. In this review, we first summarize the two types of microarrays: oligonucleotides microarray and cDNA microarray. Then, we review the studies of functional genomics in cervical cancer. Gene expression studies that involved cervical cancer cell lines, cervical cells of cancer versus normal ectocervix, cancer tissues of different histology, radioresistant versus radiosensitive patients, and the combinatorial gene expression associated with chromosomal amplifications are discussed. In particular, CEACAM5 , TACSTD1 , S100P , and MSLN have shown to be upregulated in adenocarcinoma, and increased expression levels of CEACAM5 and TACSTD1 were significantly correlated with poorer patient outcomes. On the other hand, 35 genes, including apoptotic genes (e.g. BIK , TEGT , SSI-3 ), hypoxia-inducible genes (e.g. HIF1A , CA12 ), and tumor cell invasion and metastasis genes (e.g. CTSL , CTSB , PLAU , CD44 ), have been noted to echo the hypothesis that increased tumor hypoxia leads to radiation resistance in cervical cancer during radiation.

The beauty of microarray analysis of gene expression (MAGE) is that it can be used to discover some genes that were previously thought to be unrelated to a physiologic or pathologic event. During the period from 1999 to 2007, applications of MAGE in cancer investigation have shifted from molecular profiling, identifying previously undiscovered cancer types, predicting outcomes of cancer patients, revealing metastasis signatures of solid tumors, to guiding the use of therapeutics. The roles of cancer genomic signatures have evolved through three phases. In the first phase, genomic signatures were described in stored cancer specimens and dubbed as molecular portraits of cancer. When gene expression profiles were carefully correlated with sufficient clinical information of cancer patients, new subgroups of cancers with distinct outcomes were revealed. In studies of the second phase, validation of cancer signatures was emphasized and commonly performed with independent groups of cancer specimens or independent data set. In the third phase, cancer genomic signatures have been further expanded beyond depicting the molecular portrait of cancer to predicting patient outcomes and guiding the use of cancer therapeutics. Cancer genomic signatures have become an essential part of a new generation of cancer clinical trials. It is advocated that, in future clinical trials of cancer therapy, the cancer specimens of each participant should be tested for currently available predictor genomic signatures, so that the most effective treatment with the least adverse effects for each patient can be identified. Then, participants can be triaged to an appropriate study group.