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Purpose: To perform Preimplantation Genetic Diagnosis (PGD) on a paternal Brca2 unknown mutation carrier with early-onset breast cancer, whose paternal grandmother and mother had breast cancer at 60s., Method: Elucidating the linkage via single sperm haplotyping on patient's carrier brother, and identifying the genomic deletion via BLAST followed by PCR screening. PGD was subsequently conducted., Result: The mutant allele was found by using 4 microsatellite and 2 intragenic SNP markers. Recombination was detected in 8% of sperms. BLAST was utilized to locate putative hairpin structure(s), followed by PCR screening with seven sets of primers. A novel 2,596 bp deletion containing exon 15 ~ 16 was identified. Due to the severity of phenotype and the integrity of exon 11 encoding RAD51 binding domain, and the fact that the patient's mother also had breast cancer at her 60s, we speculate a possible coexistence of maternal breast cancer risk allele(s). Embryo biopsy was performed on day 3. Unaffected morula and blastocyst were replaced on day 5, resulting in a singleton livebirth. A breast lump appeared in the patient after delivery without the presence of malignant cells., Conclusion: Concerning the assisted reproductive option for breast cancer patients, the possibility of coexistence of multiple familial risk alleles and the significance of each mutation to the phenotype should be evaluated. To eliminate misdiagnosis resulting from recombination and/or allelic drop-out, both direct mutation detection and linkage analysis approaches may be necessary. BLAST is a very useful and cost-effective tool for identifying large genomic deletion.

Purpose: This retrospective cohort study evaluated the cumulative live birth rate in women with polycystic ovary syndrome (PCOS) and isolated polycystic ovaries (PCO) undergoing in-vitro fertilisation (IVF) treatment., Methods: We studied 104 women with PCOS, 184 with PCO and 576 age-matched controls undergoing the first IVF treatment cycle between 2002 and 2009. The main outcome measure was cumulative live birth in the fresh plus all the frozen embryo transfers combined after the same stimulation cycle., Results: Women in both the PCOS (n = 104) and isolated PCO groups (n = 184) had higher ovarian response parameters compared to age-matched controls (n = 576), and higher rates of withholding fresh embryo transfer for risk of ovarian hyperstimulation syndrome (OHSS). The actual incidence of moderate to severe OHSS was significantly higher in the PCOS (11.5 %) but not the isolated PCO group (8.2%) compared to controls (4.9%). The live birth rates in the fresh cycle were comparable among the 3 groups, but the PCOS group had a significantly higher miscarriage rate compared to the other 2 groups. Cumulative live birth rate was significantly higher in the isolated PCO group (60.3%), but not the PCOS group (50.0%), compared to controls (47.5%)., Conclusions: Women in the isolated PCO group, but not the PCOS group, had a significantly higher cumulative live birth rate compared to controls. This could be explained by the quantitative effect of the higher number of transferable embryos obtained per stimulation cycle, which is uncompromised by the unfavourable embryo competence otherwise observed in PCOS.

Purpose: To validate the use of the ovarian sensitivity index (OSI) as a measure of ovarian response during in-vitro fertilization (IVF) treatment., Methods: This is a retrospective study carried out in an assisted reproduction unit in a teaching hospital. We analysed data from 2,556 women undergoing the first IVF cycle between 2002 and 2009. OSI was calculated as the number of retrieved oocytes divided by total dose of FSH administered (per 1,000 IU). Its correlation to other parameters of ovarian response was compared to that of the oocyte number., Results: The correlation coefficients of OSI with age, AFC, AMH, total dose of gonadotrophin, average daily dose of gonadotrophin and duration of stimulation were significantly higher than that of oocyte number with these respective parameters. OSI demonstrated a higher intraclass correlation coefficient (ICC) than the oocyte number when comparing the two parameters across the first and second stimulated IVF cycles., Conclusions: OSI is a better measure of ovarian responsiveness to gonadotrophin stimulation than the oocyte number, and is particularly useful when different subjects are treated with different stimulation regimens which would have confounding effect on the oocyte number.

Purpose: Analysis of anti-Müllerian hormone (AMH) is becoming of recognized importance in reproductive medicine, but assays are not standardized. We have evaluated the correlation between the new Gen II ELISA kit (Beckman-Coutler) and the older ELISA kits by Immunotech (IOT) and Diagnostic Systems Laboratories (DSL)., Methods: A total of 56 archived serum samples from patients with subfertility or reproductive endocrine disorders were retrieved and assayed in duplicate using the three AMH ELISA kits . The samples covered a wide range of AMH concentrations (1.9 to 142.5 pmol/L)., Results: We observed good correlations between the new (AMH Gen II) and old AMH assay kits by IOT and DSL (R(2) = 0.971 and 0.930 respectively). The regression equations were AMH (Gen II) = 1.353 × AMH (IOT) + 0.051 and AMH (Gen II) = 1.223 × AMH (DSL) - 1.270 respectively., Conclusions: AMH concentrations using the Gen II kit are slightly higher than those from the IOT and DSL kits. Standardization of assay results worldwide is urgently required but this analysis facilitates the interpretation of values obtained historically and in future studies using any of the 3 assays available. Meanwhile, adapting clinical cut-offs from previously published work by direct conversion is not recommended.

Background: Literature supports the efficacy of psychosocial intervention for infertile women. An eastern body-mind-spirit group intervention has been developed to help infertile women in the Chinese population cope with the distress arising from IVF treatment., Methods: The eastern body-mind-spirit group intervention adopts a bio-psycho-social-spiritual health model, recognizing the strong association between mind, body, and spirit. Chinese philosophies and concepts of health will be integrated into the intervention, helping participants to regain balance and harmony both within themselves and between them and the environment. In this paper, a revisiting of assumptions, therapeutic goals, and the therapeutic process underlying this model are outlined. Program evaluation in terms of descriptive literary sketch done by the participants will be listed so as to illustrate the clinical process., Conclusions: It was shown and reflected that the eastern Body-Mind-Spirit approach could enhance the holistic health of IVF women. Further investigation on the program efficacy is then suggested.

Purpose: This retrospective study evaluated the role of antral follicle count (AFC) in predicting ovarian response and successful outcome of stimulated insemination cycles., Methods: One-hundred and fifty infertile women with bilateral patent tubes receiving a standard regime of human menopausal gonadotrophin (HMG) in their first cycle were evaluated. Multiple regression analysis was used to evaluate the effects of different parameters on ovarian responses and multiple logistic regression analysis was applied to determine which parameters gave the maximum discrimination to predict clinical pregnancy., Results: Body mass index was the only significant parameter to predict the number of follicles > or =14 mm whereas AFC was the only significant parameter to predict the HMG duration. Only the number of follicles > or =14 mm significantly improved the chance of clinical pregnancy with an odds ratio of 1.8., Conclusion: AFC was related to the HMG duration but was not predictive of number of follicles and clinical pregnancy of stimulated insemination cycles.

Purpose: To investigate the relationship between CAG repeat length in the androgen receptor gene and impaired spermatogenesis in Hong Kong Chinese population., Methods: The CAG repeat region was amplified by polymerase chain reaction (PCR) in 85 nonobstructive azoospermic or severe oligozoospermic men, and 45 fertile males. The number of CAG repeat was analyzed by DNA sequencing. Serum FSH, LH, and testosterone levels were also determined in these men., Results: Among nonobstructive azoospermic males, three men (5.7%) possessed short CAG repeats (< 16), and three (5.7%) other men possessed long CAG repeats (> 30). Short CAG repeats (< 16) were also found in two severe oligozoospermic males (6.3%). The incidence of infertile men with short or long CAG repeats is significantly higher in the azoospermic group (p = 0.03) but not in the severe oligozoospermic group (p = 0.17) when compared with the fertile controls, Conclusion: Our data suggest an association between CAG repeat lengths and impaired spermatogenesis in azoospermic males in our population.

Purpose: This study examined oocyte and embryo quality in patients having excessive ovarian responses during assisted reproduction treatment., Methods: Two hundred and seventy-eight women of age <40 years using a long protocol of pituitary downregulation in their first intracytoplasmic sperm injection cycle indicated for severe male factors were retrospectively evaluated. Those with serum estradiol concentration on the day of HCG <10,000, 10,000-20,000, and >20,000 pmol/L were classified into Group A, Group B, and Group C, respectively., Results: The percentage of metaphase II oocytes (85%), fertilization rate (60-66%), and distribution of blastomere number per embryo were similar among the three groups. The proportion of transferable embryos was not reduced in Group C when compared to those of Groups A and B., Conclusion: Excessive ovarian response does not compromise oocyte and embryo quality in humans. Freezing of all embryos is recommended in these patients in view of associated impaired endometrial receptivity.

Purpose: To compare the effectiveness of three different doses of lignocaine used in paracervical block (PCB) during transvaginal ultrasound-guided oocyte retrieval (TUGOR) METHODS: In this double-blind study, 153 patients undergoing TUGOR in their first in vitro fertilization cycle were randomized to receive 50, 100, and 150 mg of lignocaine in PCB. Pain levels were measured by a 100-mm linear visual analogue scale (0 = none to 100 = intolerable)., Results: No differences were seen in the demographic data, the ovarian responses, the duration of TUGOR, and the number of follicles punctured. Vaginal and abdominal pain levels during TUGOR and 4 h after TUGOR were not significantly different among the three groups The median vaginal and abdominal pain levels during the retrieval were 22.0-24.0 and 30.0-32.0 respectively., Conclusion: The use of 50 mg of lignocaine is recommended in PCB because of the lack of improvement in pain relief on higher doses and potential dose-related risks.

With the advancement of assisted reproduction technologies, people are offered wider choices to choose the gender of their offspring and to construct 'ideal-typed' families with specific gender structure. Gender selection is welcomed by many societies with gender-specific preference, especially those patriarchal societies such as Chinese communities. It is not only a medical procedure but also a social orientation, which reveals much of the underlying preference towards gender. This paper explores the cultural dimensions to gender selection and its psychosocial meanings and implications in Chinese societies, especially after the establishment of One Child Policy in China. Problems associated with son preference in the culture with strong gender stereotyping are addressed. We believe that gender selection for social reasons should not be allowed since undesirable outcomes will be resulted under such strict population control program.

Purpose: To compare the prevalence and type of Y-microdeletions in Hong Kong and Shanghai men with severe male-factor infertility., Methods: Seven Y-linked sequence tagged site (STS) primers and seven gene-specific primers were screened in 293 infertile males (139 from Hong Kong and 154 from Shanghai) and 161 fertile men (61 from Hong Kong and 100 from Shanghai). Serum FSH, LH, and testosterone levels were also measured in these men., Results: The incidence of Yq microdeletions in nonobstructive azoospermic men from Hong Kong (8.5%) and Shanghai (6%) was similar. Yq microdeletions were observed in severe oligospermic patients (8.5%) from Hong Kong but not from Shanghai. Among the 9 Hong Kong men with Y-microdeletions, 8 had AZFc deletion and one had AZFb deletion. In contrast, 6 of 9 men from Shanghai with Y-microdeletions had AZFb deletion. The incidence of AZFb deletion among Y-microdeleted men was statistically different between the two populations. Two of the men with AZFb deletion also had AZFa and AZFc deletions., Conclusions: Regional variations in the type of Y-microdeletion existed between Hong Kong and Shanghai infertile males.

Purpose: To evaluate the effects of hydrosalpinx on the outcome of in vitro fertilization (IVF) treatment, a retrospective study was undertaken at a tertiary referral center for infertility., Methods: Results of the first IVF treatment cycles in 144 patients from 1 January 1993 to 31 December 1995, who had tubal infertility only and were less than 38 years old, were reviewed. The duration/dosage of hMG used, serum estradiol level on the day of hCG, number of oocytes aspirated and fertilized, number of embryos replaced, implantation rate, clinical pregnancy rate, and pregnancy outcome were compared in patients with and without hydrosalpinx., Results: The mean implantation rate and clinical pregnancy rate were similar in patients with or without hydrosalpinx. Both groups had similar ovarian responses and fertilization rates. There was no increase in clinical abortion in the hydrosalpinx group but ectopic pregnancies were more common in patients with hydrosalpinx., Conclusions: The presence of hydrosalpinx did not adversely affect the implantation and pregnancy rates in in vitro fertilization treatment when the results of the first cycle were compared. However, it can lead to a higher incidence of ectopic pregnancies.