Diagnosis of parental balanced reciprocal translocations by trophectoderm biopsy and comprehensive chromosomal screening.

PURPOSE: This study investigates a case series of eight couples who underwent trophectoderm (TE) biopsy and comprehensive chromosomal screening (CCS) for routine aneuploidy screening and were found to have CCS results concerning for previously undetected parental balanced reciprocal translocations. METHODS: In each case, controlled ovarian hyperstimulation and in vitro fertilization (IVF) yielded multiple blastocysts that each underwent CCS with high-density oligonucleotide microarray comparative genomic hybridization (aCGH). RESULTS: Parental translocations were suspected based on the finding of identical break point mutations in multiple embryos from each couple. Confirmation of these suspected translocations within blastocysts was performed with next-generation sequencing (NGS). Subsequent parental karyotypic evaluation resulted in a diagnosis of parental balanced reciprocal translocation in each case. CONCLUSIONS: We demonstrated that high-resolution aCGH and NGS on TE biopsies can accurately detect parental reciprocal translocations when previously unrecognized.

Laparoscopy as the primary modality for the treatment of women with endometrial carcinoma.

BACKGROUND: The current study was conducted to assess the feasibility of laparoscopy in the treatment of women with early stage endometrial carcinoma and to compare the surgical outcome, cost, and quality of life among these patients with those treated with laparotomy. METHODS: A prospective study was conducted over 2 years in which all women with early stage endometrial carcinoma who could tolerate laparoscopic surgery were treated with laparoscopically assisted vaginal hysterectomy (LAVH), bilateral salpingo-oophorectomy (BSO), and lymphadenectomy. Women with a similar disease stage who underwent similar surgical procedures through laparotomy in the previous 2 years were used as the control group. Both groups were compared with regard to their characteristics, surgical outcome, and cost and were interviewed regarding their quality of life. RESULTS: Eighty-six of 90 women with endometrial carcinoma underwent LAVH. The procedure was converted to laparotomy in 5 patients (5.8%). Laparoscopic surgery thus was successful in 90% of the women. There were no significant differences noted between those women who underwent LAVH and those who underwent total abdominal hysterectomy (TAH) (n = 57) with regard to patient characteristics, type of surgical procedure, preoperative and postoperative hematocrit, complications, patient recall of postoperative pain, and tumor recurrence. LAVH patients had significantly smaller body mass indices, a longer surgical time, more pelvic lymph nodes, a smaller decrease in postoperative hematocrit, received less pain medication, had a shorter hospital stay, an earlier return to full activity and work, and a higher level of satisfaction with their treatment, although their procedures had a higher cost compared with TAH patients. CONCLUSIONS: The majority of women with early stage endometrial carcinoma can be treated with laparoscopy with an excellent surgical outcome, shorter hospitalization, earlier recovery, and improved quality of life, but with a higher financial cost.

Hysterectomy for obese women with endometrial cancer: laparoscopy or laparotomy?

OBJECTIVE: The aim of this study was to investigate the feasibility and safety of laparoscopic management of obese women with early stage endometrial cancer and to compare the surgical outcome, cost, hospital stay, recall of postoperative pain control, time to return to full activity and to work, and overall satisfaction among these women and those managed by laparotomy. METHODS: We conducted a prospective study over 2 years applying laparoscopic surgery to all women with clinical stage I endometrial cancer and body mass indices (BMIs) between 28.0 and 60.0 who can tolerate such surgery. As a control, we used women with clinical stage I endometrial cancer and similar BMIs who underwent laparotomy in the previous 2 years. Both groups were compared in their characteristics, surgical outcome, cost, and hospital stay, and interviewed regarding time to recovery, recall of postoperative pain control, and overall satisfaction with their management. RESULTS: Forty of 42 obese women who presented with clinical stage I endometrial cancer during the study period were offered laparoscopic surgery. The procedure was converted to laparotomy in 3 (7.5%) patients. Laparoscopic surgery was thus successful in 88.1% of all obese women. There was no significant difference between women who underwent laparoscopy and those who underwent laparotomy in patient characteristics, proportion of women who underwent lymphadenectomy, complications, total cost, patients' recall of postoperative pain, and patients' satisfaction with management. Women who underwent laparoscopy had a significantly longer operative time, more pelvic lymph nodes removed, a smaller drop in postoperative hematocrit, less pain medication, and a shorter hospital stay (194.8 versus 137.7 min, P <0.001; 11.3 versus 5.3, P < 0.001; 3.9 versus 5.4, P = 0.029; 32.3 versus 124.1 mg, P < 0.001; and 2.5 versus 5.6 days, P < 0.001, respectively). There was a trend toward earlier resumption of full activity and return to work among women who underwent laparoscopy (23.2 versus 45.0 days, P = 0.073, and 35.3 versus 67.0 days, P = 0.055, respectively). CONCLUSIONS: Most obese women with early stage endometrial cancer can be safely managed through laparoscopy with excellent surgical outcome, shorter hospitalization, and less postoperative pain than those managed through laparotomy.

Prediction of endometrial ablation success according to perioperative findings.

OBJECTIVE: The aim of this study was to determine which factors in the perioperative period influence the success of endometrial ablation in alleviating menorrhagia. STUDY DESIGN: We performed a retrospective chart review of 120 women aged 27 to 49 years who underwent endometrial ablation after 2 months of preoperative treatment with danazol (Danocrine, 800 mg/d orally) or leuprolide (Lupron, 3.75 mg in one intramuscular injection each month). Patients who required medical management or additional operations to control the vaginal bleeding during follow-up (median follow-up, 37 weeks) were considered to have ablation failures. RESULTS: Sixty-three percent of patients (76/120) had a successful procedure. The chance of success was greater if a cavity of normal appearance was found (odds ratio, 2.3; P =.04). The finding of an intramural fibroid before the procedure resulted in a reduced trend toward success (odds ratio, 0.4; P =.06). The use of danazol pretreatment improved the rate of success overall (odds ratio, 2.2; P =.05) and especially among women <40 years old (P =.01) CONCLUSION: Perioperative findings may provide useful information in counseling patients regarding endometrial ablation. Success is greater among patients with a normal intrauterine cavity and after preoperative treatment with danazol.

Advanced ovarian carcinoma presenting with a cerebrovascular accident.

Ovarian carcinoma usually presents in an indolent manner, most often nonspecifically with complaints of abdominal pain or swelling, bloating, constipation, anorexia, early satiety, and evidence of ascites. We present a case of ovarian cancer with a cerebrovascular accident (CVA) as the presenting symptom, with minimal classic presenting signs and symptoms. The patient is a 43-year-old female with no cardiovascular risk factors who presented with a left parietal lobe infarct and advanced ovarian carcinoma. The patient underwent an extensive workup for the etiology of her CVA and possible hypercoagulation syndrome and eventually had surgical treatment. Ovarian carcinoma with a thromboembolic event as the initial presenting symptom is extremely rare. Although this patient did not appear to have hypercoagulability, consideration of this diagnosis should be given to patients presenting in this manner.

Prediction of endometrial ablation success by preoperative findings.

Objective: To determine the influence of preoperative findings on the outcome of hysteroscopic endometrial ablation.Design: We performed a retrospective chart review of 80 women between the ages of 25 and 50 years who underwent an endometrial ablation for menorrhagia or menometrorrhagia from 1992 to 1996, through a university reproductive endocrinology clinic.Materials and Methods: All eligible patients had a detailed subjective history obtained for duration of dysmenorrhea (Dys) and menorrhagia or menometrorrhagia (Men). Each had a preoperative transvaginal pelvic ultrasound with documentation of the uterine cavity contour and if an intramural myoma was present. A gynecological examination was ascertained from the patients clinical record with regard to uterine size. A benign Papanicolaou smear within 1 year of surgery and a normal endometrial biopsy was required for inclusion. Those with evidence of carcinoma or menopausal symptoms were excluded. Each patient had endometrial preparation with either danazol, GnRHa, or progestin. All ablations were performed by the same surgeon with "rollerball" electrocautery. Those patients who required medical management or additional surgery to control their vaginal bleeding during follow-up were designated as ablation failures. The use of stepwise logistic regression with ablation outcome as the dependent measure was used along with univariate analyses via chi(2) and t test to compare successes and failures on specific characteristics.Results: The sample was divided into two groups, success (group 1) or failure (group 2), and were matched for gravity, parity, and uterine size. Between the two groups there were no significant differences in the duration of menorrhagia/menometrorrhagia or dysmenorrhea. Additional therapy was required in 41% of the study group, designated as failures. The length of follow-up was 36 months for group 1 and 27.7 months for group 2. The results are summarized in the table below.The difference in age between the two groups strongly suggests a tendency toward failure with increasing age (P =.06). The diagnosis of a normal uterine cavity preoperatively shows a trend for a successful outcome (P =.07) when compared with the presence of an intracavity lesion, fibroid, or polyp. Those patients with an intramural fibroid had a tendency toward a higher failure rate (P =.10). Comparing the medications used to prepare the endometrium, patients treated with danazol had a trend toward a higher success rate (P =.09) than GnRHa or progestins.Conclusion: Preoperative findings can provide additional information with regard to endometrial ablation success. It appears that the trend toward failure is increased in patients with increased age, the diagnosis of an abnormal uterine cavity by ultrasound, and the presence of an intramural fibroid. Danazol administration, to prepare the endometrium, appears to offer a lower failure rate compared to GnRH agonists or progestins. Patients at greater risk of endometrial ablation failure based on age >/=41 years, abnormal intrauterine cavity, or the presence of intramural fibroids should be counseled about the higher failure rate and consider an alternative procedure such as hysterectomy.