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Shou-Jen Kuo,
Gwo-Chin Ma,
Shun-Ping Chang, Hsin-Hung Wu,
Chih-Ping Chen,
Tung-Ming Chang,
Wen-Hsiang Lin,
Sheng-Hai Wu,
Mei-Hui Lee,
Wuh-Liang Hwu,
Ming Chen
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ABSTRACT: 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.
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).
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.
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.
Taiwanese journal of obstetrics & gynecology 12/2011; 50(4):468-73.
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ABSTRACT: This prospective study was designed to investigate whether anti-Müllerian hormone (AMH) levels at basal and ovulation triggering day are associated with ovarian response and pregnancy outcome for in vitro fertilization (IVF).
60 infertility women undergoing IVF were prospectively studied. On day 3 of the menstrual cycle (D3), measurements of AMH, inhibin B, FSH, LH, and E2 and ultrasound evaluation of antral follicle count (AFC) were performed. Serum AMH and inhibin B levels were remeasured on the day of hCG administration (DhCG). The outcome measures were the number of retrieved oocytes and clinical pregnancy.
Number of retrieved oocytes was statistically significant and correlated with D3 AMH, AFC, DhCG AMH, DhCG inhibin B, FSH, and age (r=0.885, 0.874, 0.742, 0.732, -0.521, -0.385, respectively). Statistically significant differences were found between pregnant and non-pregnant women regarding D3 AMH and AFC. Multiple regression analysis for prediction of pregnancy showed D3 AMH to be a good predictor of clinical pregnancy.
AMH correlates better than age, FSH, and inhibin B with the number of retrieved oocytes. Serum basal AMH may offer a better prognostic value for clinical pregnancy than other currently available markers of IVF outcome in our preliminary study.
Journal of Assisted Reproduction and Genetics 09/2009; 26(7):383-9. · 1.84 Impact Factor
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ABSTRACT: Women of reproductive age are at risk of ruptured corpus luteum with hemoperitoneum. We identified the clinical and demographic features of patients recently treated in our institution and compared the findings with those from an earlier series, to detect any changes in disease identity that have occurred over the past 20 years.
Charts of patients treated between January 2001 and December 2003 at Changhua Christian Hospital were reviewed. Clinical parameters were compared with those from our previous study in the 1980s.
A total of 91 women were diagnosed with ruptured corpus luteum and hemoperitoneum (mean age, 26 years; range, 15-42 years). Most ruptures (60.4%) occurred during the secretory phase and most women (57.1%) reported recent sexual intercourse prior to the onset of pain. Most patients (81.3%) required laparoscopic intervention to achieve hemostasis. No obvious differences were found between the results of this study and those from the 1985 series, except that our patients were younger, were more often unmarried, chose laparoscopic interventions rather than laparotomy, and that there was an emerging trend towards conservative treatment.
The manifestations of corpus luteum hemorrhage in this study were similar to those observed in the 1980s at the same medical center. However, the demographic parameters (age, marital status) and the modalities of treatment (conservative treatment, mode of surgical interventions) had changed in line with the evolution of society, culture, and the progress of medical science over the past 20 years.
Taiwanese journal of obstetrics & gynecology 07/2009; 48(2):108-12.
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ABSTRACT: Endometriosis is one of the most common gynaecological diseases and evidence has suggested that it may be inherited as a complex genetic trait. HOXA10, a homeobox gene, is expressed in the developing uterus and participates in endometrium development and may contribute to endometriosis. In this study, the HOXA10 gene was analysed in 112 patients with endometriosis and in 54 women without endometriosis, as diagnosed laparoscopically. The entire HOXA10 gene was amplified using polymerase chain reaction followed by single-strand conformation polymorphism analysis and sequencing. Association between the polymorphism and the clinical parameters of endometriosis were examined. There were 7.23% patients with HOXA10 genetic alterations; however, there was no significant increase in the endometriosis patients compared with the controls. Most of these DNA variants were found to be novel mutations that reside within the HOXA10 homeobox domain. Six variants generate amino acid changes in the protein and one harbours a premature stop codon. It was found that patients with HOXA10 polymorphism were associated with a lower serum cancer antigen-125, a lower American Fertility Society score and less severe obliterated cul-de-sac. It is postulated that genetic alterations in the homeobox domain might lead to less specificity for HOXA10 protein binding to a DNA molecule.
Reproductive biomedicine online 04/2008; 16(3):416-24. · 2.04 Impact Factor
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ABSTRACT: Type II osteogenesis imperfecta (OI) is a perinatally lethal disorder due to type I collagen abnormalities that has been diagnosed successfully in the second trimester. We report a case of type II OI that was confirmed on postmortem histology and radiography presenting as increased nuchal translucency in the first trimester.
Journal of Clinical Ultrasound 03/2008; 36(2):119-22. · 0.81 Impact Factor
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ABSTRACT: To analyze the HOXA10 genes in CAUV patients for mutations. Congenital absence of the uterus and vagina (CAUV) is the most extreme female reproductive tract developmental defect known. The HOXA10 gene is expressed in the developing and adult uterus. Female mice with loss-of-function Hoxa10 gene mutations have anteriorly directed homeotic transformations of the uterus. Because the HOXA10 gene is expressed in the embryonic paramesonephric (Müllerian) ducts, abnormally low expression by mutant HOXA10 genes might cause CAUV. This hypothesis was tested by analyzing the HOXA10 genes in CAUV patients for mutations.
Case-control study.
Academic reproductive endocrinology and infertility practice.
Blood samples were obtained from 26 patients with CAUV and 30 normal controls.
DNA samples prepared from blood leukocytes were used as templates for polymerase chain reaction (PCR) amplification of DNA fragments from the HOXA10 gene. The gene fragments were tested for DNA sequence differences using denaturing gradient gel electrophoresis (DGGE).
To detect DNA sequence differences between patients with CAUV and normal controls.
No DNA sequence differences were found in either patients with CAUV or normal controls in either of the two protein-coding exons of the HOXA10 gene.
Because no HOXA10 gene mutations were found in 26 patients from 25 unrelated families, germ- line mutations in the HOXA10 gene are not a common cause of CAUV.
Fertility and sterility 03/2008; 89(2):325-30. · 3.97 Impact Factor
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ABSTRACT: To evaluate the impact of high estradiol (E2) levels and a high number of retrieved oocytes on the outcome of in vitro fertilization (IVF) cycles.
We retrospectively reviewed 274 IVF cycles. These patients were divided into five groups according to their peak E2 levels on the human chorionic gonadotropin day: < or = 2,000 pg/mL (130 cycles); 2,001-3,000 pg/mL (53 cycles); 3,001-4,000 pg/mL (46 cycles); 4,001-5,000 pg/mL (29 cycles); > 5,000 pg/mL (16 cycles). Fertilization, pregnancy, and implantation rates were analyzed between these groups. We also compared the outcome of IVF for high responders (> 15 retrieved oocytes) and normal responders (< or = 15 retrieved oocytes).
The oocyte fertilization and embryo cleavage rates were not significantly different among these five groups. Although decrease in pregnancy and implantation rates was observed when E2 levels were > 5,000 pg/mL compared with those having lower E2 levels, there were no statistically significant differences between these five groups. In addition, similar IVF outcome was detected for those cycles with > 15 oocytes and < or = 15 oocytes obtained.
High serum E2 levels and high oocyte yield are not detrimental to IVF outcome. More studies are needed to characterize the threshold E2 levels above which implantation rates are reduced.
Taiwanese journal of obstetrics & gynecology 04/2007; 46(1):54-9.
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ABSTRACT: IN the present study we evaluated and compared the effects of ovulation and hormonal dynamics induced by anastrozole and clomiphene citrate in women with infertility.
Thirty-three infertile patients, aged 25-41 years, were enrolled. Patients received either anastrozole 1 mg daily (AI group) or clomiphene citrate 100 mg daily (CC group) from cycle day 3 to day 7. Number of mature follicles (> or =18 mm), endometrial thickness, pregnancy rate and serial hormone profiles (follicle-stimulating hormone (FSH), luteinizing hormone (LH), estradiol (E(2)), testosterone and progesterone) were measured on cycle day 3, day 8, day 10, the day of intrauterine insemination (IUI), day 7 after IUI and day 14 after IUI.
Baseline parameters were similar in the two groups, including age, body mass index, infertility duration and day-3 serum hormones except FSH. The mean FSH value on day 3 was significantly different (4.3 mIU/ml in the AI group vs. 6.3 mIU/ml in the CC group; p < 0.05). The women receiving anastrozole had fewer ovulatory follicles (1.2 in the AI group vs. 1.8 in the CC group; p < 0.05) and a thicker endometrium (10.6 mm in the AI group vs. 7.8 mm in the CC group; p < 0.05). The levels of progesterone and testosterone were similar during ovulation stimulation cycles in both groups. On the other hand, the AI group had a significantly higher LH level but a significantly lower E(2) level in the stimulation cycle.
Anastrozole has a high pregnancy rate, although it induces fewer ovulatory follicles compared with clomiphene citrate. The two drugs gave different responses of FSH, LH and E2 during stimulation cycles.
Gynecological Endocrinology 03/2007; 23(2):76-81. · 1.58 Impact Factor
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ABSTRACT: Second-trimester amniocentesis is a common procedure for prenatal diagnosis. Sepsis is a rare complication after amniocentesis and may rapidly deteriorate if prompt treatment, including broad-spectrum antibiotics and removal of the infected abortus, is delayed. In vitro fertilization and embryo transfer (IVF-ET) is a standard final treatment for infertile women. Transvaginal oocyte retrieval is necessary for such women; this procedure potentially causes Escherichia coli attaching and effacing in the abdominal cavity. Here we report that two pregnant women by IVF-ET developed sepsis after second-trimester amniocentesis. The cause of sepsis after amniocentesis is still unknown. We provided the possibility of the causation of the E. coli infection associated with the previous intra-abdominal procedure, but it needs more evidence to prove it.
Fetal Diagnosis and Therapy 02/2007; 22(3):217-20. · 1.05 Impact Factor
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ABSTRACT: A number of surgical techniques to control severe bleeding at cesarean delivery have been proposed, such as uterine artery ligation, hypogastric artery ligation, and uterine compression suturing.
A primigravida with severe postpartum hemorrhage and disseminated intravascular coagulopathy had multiple square sutures placed through the uterus. Serial sonographic follow-up studies revealed uterine synechiae with partial obstruction of menstrual flow. Hysteroscopy confirmed unabsorbed sutures in the uterine cavity.
The use of multiple sutures through the uterus is effective to control postpartum hemorrhage but may lead to uterine synechiae.
Obstetrics and Gynecology 06/2005; 105(5 Pt 2):1176-8. · 4.73 Impact Factor
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ABSTRACT: Formin-2 (Fmn2) mutant mice produce oocytes with meiosis I arrest. Our aim was to describe the human FORMIN-2 (FMN2) gene and to identify DNA sequence polymorphisms in patients with unexplained infertility and multiple failed IVF cycles.
Institutional review board-approved observational case-control study.
Infertility center and university hospital.
Sixty-two fertile controls and seven subjects with unexplained infertility.
BLASTP (www.ncbi.nlm.nih.gov) was used to map the genomic DNA and complementary DNA sequence of FMN2. Genomic DNA was extracted from blood leukocyte samples. The polymerase chain reaction was used to amplify FMN2 gene exons for analysis by denaturing gradient gel electrophoresis.
Characterization of the FMN2 gene and identification of fragment melting polymorphisms (FMPs).
FMN2 includes 411,960 base pairs (bp) of DNA with 6,204 bp in 18 exons. There was no difference in FMN2 FMP allele frequencies between the controls and subjects. One patient was homozygous for one FMP.
The human FMN2 gene is conserved between evolutionarily diverse vertebrates. It is likely that FMN2 has the same function as Fmn2 in the mouse (i.e., maintenance of the meiotic spindle). Prospective identification of patients with meiosis I arrest is necessary to determine whether FMN2 mutations are a cause of unexplained infertility.
Fertility and sterility 06/2005; 83(5):1363-71. · 3.97 Impact Factor
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ABSTRACT: To identify the incidence and outcomes of ureteral injuries in patients undergoing hysterectomy, and to evaluate the effect of intraoperative cystoscopy and early postoperative ureteral jet ultrasonography.
Retrospective comparative study (Canadian Task Force classification II-2).
Tertiary medical center.
Fifteen patients who experienced ureteral injuries while undergoing hysterectomy out of 4950 total patients during a 6-year period.
All patients underwent hysterectomy, and intraoperative cystoscopy or early postoperative ureteral jet ultrasonography were used to evaluate ureteral integrity.
The incidence of ureteral injury recognized after hysterectomy was 0.32%, and all ureteral injuries occurred during laparoscopic hysterectomy. The initial detection of ureteral injury resulted from intraoperative cystoscopy in five patients, early postoperative ureteral jet ultrasonography in two patients, and signs and symptoms in eight patients. The patients whose injuries were detected by either intraoperative cystoscopy or early postoperative ureteral jet ultrasonography were diagnosed earlier (1.7 and 19.9 postoperative days, respectively; p<.01) and tended toward more conservative treatment (p=.119; OR=10; 95% CI 0.78-128.78) than those who were diagnosed based on signs and symptoms alone.
Use of intraoperative cystoscopy or early postoperative ureteral jet ultrasonography leads to earlier diagnosis of posthysterectomy ureteral injury, thereby allowing for more conservative treatment.
Journal of Minimally Invasive Gynecology 13(5):403-8. · 1.74 Impact Factor
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ABSTRACT: The RUMI uterine manipulator is a useful device for uterine mobilization and chromopertubation during laparoscopic surgery. We report two cases of iatrogenic uterine rupture caused by overinflation of the intrauterine balloon of the RUMI manipulator during chromopertubation. One rupture, which occurred on the uterine fundus, simply was sutured during surgery. The other rupture, which occurred into the uterine lateral wall, caused retroperitoneal hematoma. A second operation was required to treat this complication. Overinflation of the tip balloon of the RUMI manipulator during chromopertubation can cause uterine rupture that can result in massive hematoma.
Journal of Minimally Invasive Gynecology 12(2):174-6. · 1.74 Impact Factor
