Montserrat Boada

Confirmation of diagnosis in preimplantation genetic diagnosis (PGD) through blastocyst culture: preliminary experience.

Three cases of preimplantation genetic diagnosis (PGD) (two for sexing and one for aneuploidy screening) are presented. Embryo biopsy was performed at day 3 and diagnosis was established with fluorescent in situ hybridization (FISH). Embryos not used for replacement were cultured in sequential media for blastocyst development. Blastocyst rate was 39.3 per cent. Confirmations of diagnosis were established with FISH in blastocysts and arrested embryos. Mosaicism was observed in 7/8 blastocysts (mean number of cells analysed: 55.5) and 5/8 arrested embryos. The percentage of abnormal cells was 17.1 per cent for blastocysts and 54 per cent for arrested embryos. Polyploid cells were observed in 4/8 blastocysts. Confirmation of diagnosis at the blastocyst stage is a useful tool in PGD. Copyright

Effects of aging on the zona pellucida surface of mouse oocytes

In a scanning microscopy study of mouse oocytes from immature, young, and aged females and of oocytes agedin vivo orin vitro, we have observed four types of zona pellucida, which we classify as types A, B, C, and D. Oocyte aging gives rise to a significant increase in predegenerative (type C) oocytes; this type of zona pellucida surface could result from a zona hardening effect and decrease the rate of fertilization of the oocytes affected.

Does culture medium influence offspring birth weight

OBJECTIVE To determine whether the type of medium used to culture human embryos in vitro influences neonatal birth weight after IVF/intracytoplasmic sperm injection (ICSI). DESIGN A prospective study and a retrospective study. SETTING Private assisted reproduction center. PATIENT(S) The prospective study included 449 IVF/ICSI cycles from August to December 2008. The retrospective analysis was performed for 2,518 IVF/ICSI cycles from October 2006 to December 2010. INTERVENTION(S) In the prospective study, patients were randomized for embryo culture in Cook or Vitrolife medium. The retrospective study was performed with three different culture media (MediCult, Cook, and Vitrolife). MAIN OUTCOME MEASURE(S) Mean birth weight, adjusted for gestational age and gender (z score) of newborns. RESULT(S) In the prospective study, the average z score was -0.19 ± 0.85 in Cook and 0.08 ± 1.40 in Vitrolife. In the retrospective study, the z scores obtained in each group were as follows: Cook, -0.14 ± 0.96; MediCult, 0.06 ± 1.13; and Vitrolife, 0.03 ± 1.05. No significant differences were observed regarding the birth weight of children born in the different groups in both studies. CONCLUSION(S) The results do not show any relationship between the medium used for in vitro culture and mean birth weight adjusted for gestational age and gender of singletons born after IVF/ICSI.

Human chorionic gonadotropin and intravaginal natural progesterone are equally effective for luteal phase support in IVF

This prospective randomized study compared human chorionic gonadotropin (hCG) and micronized transvaginal progesterone for luteal support in 310 in vitro fertilization (IVF) patients treated with leuprolide acetate and gonadotropins in a long protocol, and showing normal ovarian response. Both treatment groups were homogeneous for age, BMI, stimulation treatment and ovarian response. Pregnancy rates per embryo transfer were not significantly different (33.1% for the hCG group versus 38.7% for the progesterone group). For IVF patients with a normal response to stimulation under pituitary supression, the use of hCG or progesterone for luteal support does not seem to have any effect on pregnancy rate. The choice of luteal treatment must balance medical hazard and patient convenience, as both therapeutic regimens seem equally effective.

Concise Review: Fertility Preservation: An Update

Fertility preservation is an emerging field in medicine that enables men, women, and children to maintain reproductive health when it is threatened by gonadotoxic treatment. Patients affected by other nononcologic malignancies that can impair spermatogenesis and ovogenesis can also benefit from fertility preservation treatments. Age‐related infertility can also be overcome by cryopreserving gametes or embryos. The only established methods for fertility preservation in male patients are sperm cryopreservation in postpubertal age and experimental testicular tissue cryopreservation in prepubertal age. In adult women, oocyte cryopreservation is the preferred option, whereas ovarian tissue cryopreservation is the only possibility for prepubertal girls. Fertility preservation treatments must be addressed through a multidisciplinary approach that involves gynecologists, urologists, oncologists, pediatricians, and professionals in the field of medically assisted reproduction to work in coordination to provide patients with counseling and comprehensive information about fertility issues.

Cancer and fertility preservation: Barcelona consensus meeting

Abstract Improvements in early diagnosis and treatment strategies in cancer patients have enabled younger women with cancer to survive. In addition to the stressful event of the diagnosis, patients with malignant diseases face the potential loss of the opportunity to have children. Preservation of fertility has become a challenging issue and it is still surrounded by controversies. On the basis of available evidence, a group of experts reached a consensus regarding the options for trying to preserve fertility in women with cancer: among established methods, in postpubertal women, oocyte cryopreservation is the preferred option, whereas ovarian tissue cryopreservation is the only possibility for prepubertal girls. Combining several strategies on an individual basis may improve the chances of success. Realistic information should be provided before any intervention is initiated. Counseling should offer support for patients and provide better care by understanding emotional needs, psychological predictors of distress and methods of coping. Early referral to the fertility specialist is essential as fertility preservation (FP) may improve quality of life in these patients. The information summarized here is intended to help specialists involved in the treatment of cancer and reproductive medicine to improve their understanding of procedures available for FP in young cancer patients.

Live birth using vitrified-warmed oocytes in invasive ovarian cancer: case report and literature review

This article reports the live birth of a healthy newborn using vitrified-warmed oocytes in a young patient with invasive mucinous ovarian carcinoma (stage Ic). Diagnosis was performed after a laparoscopic left adnexectomy. She underwent two cycles of ovarian stimulation, and 14 oocytes were vitrified before fertility-sparing surgery with uterus preservation went ahead. One year later, a transfer of two embryos was performed after insemination of warmed oocytes. Eighteen days after the transfer, she underwent a laparotomy because of abdominal pain, vaginal bleeding and haemoperitoneum. A right cornual ectopic pregnancy in the uterus was diagnosed and a wedge resection was performed to resolve it. One week later, a viable intrauterine pregnancy was confirmed under ultrasound. An elective Caesarean section was performed at week 38 of gestation, resulting in the birth of a healthy boy weighing 2650 g. As far as is known, this is the first live birth reported through vitrified-warmed oocytes in a patient with invasive ovarian cancer. Although oocyte vitrification is an alternative to be considered for fertility preservation in highly selected cases of ovarian cancer, controversial issues are discussed. Fertility preservation is a proven possibility in some cancer patients according to their age, disease and time available until the beginning of their oncological treatment. Although oocyte vitrification is an alternative to be considered for fertility preservation in highly selected cases of ovarian cancer, no live birth has been reported. We report the live birth of a healthy newborn through vitrified-warmed oocytes in a young patient with invasive mucinous ovarian carcinoma (stage Ic). Diagnosis was performed after a laparoscopic left adnexectomy. She underwent two cycles of ovarian stimulation, and 14 oocytes were vitrified before fertility-sparing surgery with uterus preservation went ahead. One year later, a transfer of two embryos was performed after the insemination of the warmed oocytes. Eighteen days after the transfer she underwent a laparotomy because of abdominal pain, vaginal bleeding and haemoperitoneum. A right cornual ectopic pregnancy in the uterus was diagnosed and a wedge resection was performed to resolve it. One week later, a viable intrauterine pregnancy was confirmed under ultrasound. An elective Caesarean section was performed at week 38 of gestation, resulting in the birth of a healthy boy weighing 2650 g. To our knowledge, this is the first live birth reported using vitrified-warmed oocytes in invasive ovarian cancer. Controversial issues are reviewed and discussed.

Combined strategy for fertility preservation in an oncologic patient: vitrification of in vitro matured oocytes and ovarian tissue freezing

Breast cancer is the most common malignancy in women and nearly 7% of cases are diagnosed before age 40 [1]. Diagnosis at early ages is associated with a worse prognosis and therefore, these cases are usually managed with adjuvant chemotherapy and/or hormonal therapy. These treatments are effective in reducing recurrence rates and improving survival rates; however, they have a negative impact on ovarian function and fertility [2]. Fertility preservation in these cases may be of interest also due to the current trend towards delaying motherhood, which leads to a situation where many women may have not fulfilled their motherhood desire at the time of breast cancer diagnosis. There are several strategies to preserve fertility. Choosing one or the other will depend on patient’s age, tumour biology and, above all, time availability until the start of gonadotoxic treatment.

NGS-Based Assay for the Identification of Individuals Carrying Recessive Genetic Mutations in Reproductive Medicine.

Next‐generation sequencing (NGS) has the capacity of carrier screening in gamete donation (GD) programs. We have developed and validated an NGS carrier‐screening test (qCarrier test) that includes 200 genes associated with 368 disorders (277 autosomal recessive and 37 X‐linked). Carrier screening is performed on oocyte donation candidates and the male partner of oocyte recipient. Carriers of X‐linked conditions are excluded from the GD program, whereas donors are chosen who do not carry mutations for the same gene/disease as the recipients. The validation phase showed a high sensitivity (>99% sensitivity) detecting all single‐nucleotide variants, 13 indels, and 25 copy‐number variants included in the validation set. A total of 1,301 individuals were analysed with the qCarrier test, including 483 candidate oocyte donors and 635 receptor couples, 105 females receiving sperm donation, and 39 couples seeking pregnancy. We identified 56% of individuals who are carriers for at least one genetic condition and 1.7% of female donors who were excluded from the program due to a carrier state of X‐linked conditions. Globally, 3% of a priori assigned donations had a high reproductive risk that could be minimized after testing. Genetic counselling at different stages is essential for helping to facilitate a successful and healthy pregnancy.

Couples' opinions regarding the fate of surplus frozen embryos

With the passing of Act 45/2003, research with viable human embryos became legal in Spain. Since then, Institut Universitari Dexeus has been in contact with couples whose embryos had been frozen for more than 2 years to inform them about the new legal options and gather their opinions. A reply was received from 35.9% of the couples contacted, with the following results: 33.3% wished to preserve the embryos for their own use, 30.0% wished to donate the embryos for embryonic stem cell research, 20.2% wished to donate the embryos to third parties for reproductive purposes and 10.3% wished to terminate the cryopreservation process without further use. The couples who chose to donate the embryos for research were asked to give written informed consent to the donation of their embryos for a specific project. The possibility of donating embryos for research has been well received by the couples, and offers a solution to those who wish to make neither a further attempt for pregnancy nor a donation with reproductive goals. Donation for research purposes is considered a preferable alternative to disposal.