Non-disclosing preimplantation genetic diagnosis for Huntington disease.

OBJECTIVES: Individuals at risk for Huntington disease face difficult decisions regarding their reproductive options. Most do not wish to pass on the gene for Huntington disease to their children, but may not be prepared themselves to undergo presymptomatic testing and learn their genetic status. For these reasons, many at-risk individuals with a family history of HD would choose a method of genetic diagnosis that would assure them that they can have children unaffected with HD without revealing their own genetic status (non-disclosing). We have shown that, with a carefully designed and executed programme of non-disclosing preimplantation genetic testing, one can successfully assist at-risk couples to have their own biological children who are free from Huntington disease, without forcing parents to confront knowledge of their own genetic status. METHODS: Couples where one partner was at 50% risk for Huntington disease underwent in vitro fertilization with preimplantation embryo biopsy and molecular analysis for Huntington disease where appropriate. RESULTS: After extensive counselling and informed consent, 10 couples underwent 13 in vitro fertilization and two frozen embryo transfer cycles in a programme for non-disclosing preimplantation genetic diagnosis for Huntington disease. In 11 cycles, embryos determined to be free of Huntington disease were transferred, resulting in five clinical pregnancies. One set of twins and three singleton pregnancies have delivered. One pregnancy resulted in a first-trimester loss. CONCLUSIONS: The option of non-disclosing preimplantation genetic diagnosis should be reviewed, along with other relevant medical options, when counselling at-risk Huntington disease families.

Aggressive outpatient treatment of ovarian hyperstimulation syndrome with ascites using transvaginal culdocentesis and intravenous albumin minimizes hospitalization.

PURPOSE: To assess the effectiveness of outpatient treatment of Ovarian Hyperstimulation Syndrome associated with ascites. METHODS: Forty-eight patients diagnosed with ovarian hyperstimulation and ascites from 2,246 consecutive in vitro fertilization cycles were retrospectively studied. Patients were treated with outpatient transvaginal culdocentesis and rehydration with intravenous crystalloids and albumin every 1-3 days until resolution of symptoms or hospitalization was required. Outcomes measured included incidences of hospitalization, pregnancy outcomes, cycle characteristics, and oocyte donors versus nondonors comparisons. RESULTS: No complications occurred from outpatient treatments, and 91.6% of patients avoided hospitalization. The pregnancy rate in patients undergoing transfer was 84.7%, and the spontaneous loss rate was 16%. Overall, the estradiol on day of hCG was 4331 pg/mL (range 2,211-8,167), ascites removed was 1910 cm3 (122-4,000), and number of outpatient treatments was 3.4 (1-14). Nondonors averaged more outpatient treatments than donors (3.97 vs. 1.85), but similar rates of hospitalization (3/35 vs. 1/13). CONCLUSIONS: Outpatient treatment consisting of culdocentesis, intravenous rehydration, and albumin minimized the need for hospitalization in hyperstimulated patients.