Faculty Bibliography

OBJECTIVE: To report our experience with genetic screening of oocyte donor candidates and to determine the frequency with which significant genetic issues are identified. DESIGN: Prospective genetic screening of oocyte donor candidates. SETTING: University hospital oocyte donation program. PATIENT(S): Women presenting consecutively as volunteer oocyte donors. INTERVENTION(S): Genetic screening was performed by pedigree analysis and laboratory studies. MAIN OUTCOME MEASURE(S): Inclusion in the oocyte donor pool based on the results of clinical evaluation and laboratory tests consisting of polymerase chain reaction based mutational analysis for cystic fibrosis carrier status, cytogenetic analysis for karyotype, enzymatic assay for Tay-Sachs disease carrier status, and complete blood count and hemoglobin electrophoresis. RESULT(S): Eight (11%) of 73 oocyte donor candidates were excluded from the donor pool because of a potentially serious genetic finding. Cystic fibrosis mutations were identified in 5 candidates (7%), abnormal karyotypes were found in 2 (3.5%), and an autosomal dominant skeletal dysplasia was identified in 1 (1.4%). CONCLUSION(S): A significant proportion of women who present as candidates for oocyte donation are inappropriate for donation because of their genetic history or genetic testing results. A thorough genetic evaluation, including a history and laboratory screening, is essential to any oocyte donation program to maximize positive outcomes in pregnancies achieved through assisted means

BACKGROUND: The Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome occurs in 1 of every 4,000-5,000 female births. It is characterized by normal external genitalia, an absent vagina, absent or rudimentary uterus, and normal fallopian tubes and ovaries. When associated with a rudimentary uterine horn, cyclic catamenial pelvic pain may result. The standard procedure for pain relief has been removal of the uterine horn by laparotomy. CASE: A rudimentary uterine horn was diagnosed in a woman with MRKH syndrome who developed monthly severe pelvic pain. Removal of the structure was performed via laparoscopy. The patient had complete resolution of her pain. CONCLUSION: As an alternative to laparotomy, laparoscopic resection of a rudimentary horn in patients with MRKH syndrome is both feasible and beneficial in the treatment of pelvic pain

Two women had infertility due to a symptomatic unicornuate uterus associated with rudimentary contralateral horn. Both carried successful pregnancies after laparoscopic resection of the horns

OBJECTIVE: To test the hypothesis that elevated E2 levels on day 3 of IVF cycles without GnRH agonist (GnRH-a) are associated with reduced oocyte numbers and pregnancy rates (PRs). DESIGN: Day 3 levels of E2 and FSH were obtained from patients undergoing controlled ovarian hyperstimulation without GnRH analogue for IVF. PATIENTS: Five hundred ninety-two consecutive IVF cycles. RESULTS: Patients were grouped according to their day 3 E2 levels (< 30, 31 to 45, 46 to 60, 61 to 75, and > 75 pg/mL [conversion factor to SI unit, 3.671]). The ongoing PR per retrieval for patients with E2 levels < 30 pg/mL was significantly higher than for patients with E2 levels 31 to 75 pg/mL. There were no pregnancies if the E2 level was > 75 pg/mL. The mean number of oocytes per retrieval was significantly lower in patients from the E2 groups with E2 > 60 pg/mL compared with patients in groups with E2 < 60 pg/mL. Day 3 FSH and E2 levels also were evaluated simultaneously. In patients with the lowest levels of FSH and E2, the PR was the highest. No pregnancies occurred if the FSH level was > 17 mIU/mL (conversion factor to SI unit, 1.00) and the E2 level was > 45 pg/mL on day 3. CONCLUSIONS: For patients undergoing IVF without GnRH analogue, oocyte numbers and PRs decrease with increasing levels of day 3 E2. Combining day 3 FSH and E2 improved the prognostic ability of either of these hormones used alone

The current study was initiated to estimate the use of oral contraceptives and estrogen replacement therapy in women with systemic lupus erythematosus (SLE). Four hundred and four patients were surveyed from five medical centers. Two hundred and twenty four (55%) had ever used oral contraceptives, however, only 51 (13%) were taking oral contraceptives at the time SLE was diagnosed. Fifty five (14%) used oral contraceptives after their disease was diagnosed. Only seven (13%) reported an exacerbation of disease activity, mostly confined to the musculoskeletal system. In one substudy, there were no significant differences observed between women with or without SLE with regard to the frequency of ever-use of oral contraceptives. In contrast, significantly fewer women with established SLE were taking oral contraceptives at the time of interview compared with healthy women, p < 0.02. In a second substudy, information on past and present usage of estrogen replacement therapy was obtained in women followed at two of the sites included in the main study. Fifty-five (59%) of the 94 postmenopausal patients at these centers had ever taken estrogen therapy, 23 (24%) at the time of diagnosis. Forty-eight women (51%) began or remained on estrogen therapy after the diagnosis of SLE, four (8%) of whom reported exacerbations of disease activity. A significantly higher percentage of Caucasian women had taken or were taking estrogen replacement compared with other ethnic groups. This study suggests that exogenous hormones were generally well tolerated by women with SLE; this preliminary observation is based on patient recall. The low frequency of current oral contraceptive use in lupus patients of reproductive age may reflect, in part, bias of the managing rheumatologists and obstetricians/gynecologists. Given the health needs of and potential benefits for women with SLE, these observations suggest that larger prospective studies are critical and are likely to change prescribing practices for exogenous estrogen