Single-cell chromosomal imbalances detection by array CGH

Genomic imbalances are a major cause of constitutional and acquired disorders. Therefore, aneuploidy screening has become the cornerstone of preimplantation, prenatal and postnatal genetic diagnosis, as well as a routine aspect of the diagnostic workup of many acquired disorders. Recently, array comparative genomic hybridization (array CGH) has been introduced as a rapid and high-resolution method for the detection of both benign and disease-causing genomic copy-number variations. Until now, array CGH has been performed using a significant quantity of DNA derived from a pool of cells. Here, we present an array CGH method that accurately detects chromosomal imbalances from a single lymphoblast, fibroblast and blastomere within a single day. Trisomy 13, 18, 21 and monosomy X, as well as normal ploidy levels of all other chromosomes, were accurately determined from single fibroblasts. Moreover, we showed that a segmental deletion as small as 34 Mb could be detected. Finally, we demonstrated the possibility to detect aneuploidies in single blastomeres derived from preimplantation embryos. This technique offers new possibilities for genetic analysis of single cells in general and opens the route towards aneuploidy screening and detection of unbalanced translocations in preimplantation embryos in particular

Ovarian adhesions impair ovulation

The concentration of progesterone in peritoneal fluid, aspirated from the pouch of Douglas by laparoscopy, 72 hours after the peak of the luteinizing hormone in serum is believed to indicate whether the ovarian follicle has ruptured or not. Twenty six patients were studied. The volume of peritoneal fluid 72 hours after the peak of the luteinizing hormone was markedly decreased when bilateral ovarian adhesions were present. Progesterone concentrations, assayed during the early luteal phase in peritoneal fluid of women with bilateral ovarian adhesions, were significantly lower than in women with a corpus luteum presenting an ovulation stigma and even significantly lower than in those without ovulation stigma (luteinized unruptured follicle syndrome). The assay of progesterone in peritoneal fluid during the early luteal phase may be of value in women with ovarian adhesions

Incidence, recurrence and treatment of the luteinized unruptured follicle syndrome.

The frequency of the luteinized unruptured follicle (LUF) was determined in a population of 220 regularly cycling women, infertile for at least two years. Laparoscopy was performed during the very first days of the luteal phase. In 26 women without other demonstrable cause of infertility, a diagnosis of LUF was made based on the absence of an ovulation stigma and the low concentrations of progesterone (P) and 17 beta-oestradiol (E2) in peritoneal fluid (PF). Twenty of these 26 women underwent a culdocentesis 72-96 hours after the serum LH-rise in a following cycle. In 19 out of 20, low P and E2 concentrations in PF were again found, suggesting the recurrence of LUF. Subsequently, ovulation was induced with human menopausal gonadotrophins (hMG) alone (n = 4), or in combination with human chorionic gonadotrophin (hCG, n = 9). At carefully timed culdocentesis (at LH/hCG + 72-96 hours), P concentration in PF was high in the hMG-hCG treated women but remained low in those given hMG alone. The combination of hMG and hCG may be a valuable treatment of LUF