Retrospectively investigating the 12-year experience of prenatal diagnosis of small supernumerary marker chromosomes through array comparative genomic hybridization.

OBJECTIVE: This study retrospectively evaluated the incidences of small supernumerary marker chromosomes (sSMCs) in prenatal diagnoses and detected with gain of pathogenic copy number variation through array comparative genomic hybridization (CGH) in a laboratory in Taiwan. MATERIALS AND METHODS: We retrospectively searched and reviewed the sSMC cases detected during prenatal diagnoses in the Youthgene medical laboratory, between 2004 and 2015 and used array CGH to successfully analyze 45 of 47,XN,+mar or 47,XN + mar/46,XN. RESULTS: A total of 68,087 cases of amniocentesis were analyzed, of which 59 were identified as sSMCs. The overall frequency of sSMCs was 0.087%, and 7 of 45 sSMCs were identified with gain of pathogenic copy number variation (CNV). CONCLUSION: Array CGH offers useful tools that can be used to detect small fragments of chromosomal abnormalities and sSMC origins in prenatal diagnosis. In this study, we successfully used array CGH to detect 7 out of 45 sSMCs, which were identified with gain in pathogenic CNV.

Comparative study of vaginal, laparoscopically assisted vaginal and abdominal hysterectomies for uterine myoma larger than 6 cm in diameter or uterus weighing at least 450 g: a prospective randomized study.

BACKGROUND: The purpose of this study was to compare peri-operative morbidity, preoperative sonographic estimation of uterine weight and postoperative outcomes of women with uterine fibroids larger than 6 cm in diameter or uteri estimated to weigh at least 450 g, undergoing either vaginal, laparoscopically assisted vaginal or abdominal hysterectomies. METHOD: Ninety patients who met the criteria of uterine fibroids larger than 6 cm by ultrasonographic examination were included in our prospective study. Patients were randomized into laparoscopic-assisted vaginal hysterectomy (30 patients), vaginal hysterectomy (30 patients) and abdominal hysterectomy (30 patients) groups. RESULTS: The laparoscopically assisted vaginal hysterectomy group had significantly longer operative times than the abdominal and vaginal hysterectomy groups (109 +/- 22 min, 98 +/- 16 min, and 74 +/- 22 min, respectively, p < 0.001). Blood loss for vaginal hysterectomy was significantly lower than for either abdominal or laparoscopically assisted vaginal hysterectomies (215 +/- 134 ml, 293 +/- 182 ml, and 343 +/- 218 ml, respectively, p = 0.04). Vaginal hysterectomy and laparoscopically assisted vaginal hysterectomy groups had shorter hospital stays, lower postoperative pain scores, more rapid bowel recovery and lower postoperative antibiotic use than the abdominal hysterectomy group. Uterine weight in the abdominal hysterectomy group was significantly heavier than in the vaginal and laparoscopically assisted vaginal hysterectomy groups (1020 +/- 383 g, 835 +/- 330 g, and 748 +/- 255 g, respectively, p = 0.02). We estimated that when a myoma measured between 8 and 10 cm, the uterus weighed approximately 450 g, and the sensitivity of this prediction was 57.5%. For a myoma larger than 13 cm, the estimated uterine weight was more than 900 g and the sensitivity of this prediction was 71%. CONCLUSION: The study shows vaginal hysterectomy and laparoscopically assisted vaginal hysterectomy can be performed in women with uterine weight of at least 450 g. Preoperative ultrasonographic examination can provide the surgeon with valuable information on the size of the fibroid and the estimated weight of the enlarged uterus before implementing a suitable surgical method.