1/11. Surrogate pregnancies in patients with Mayer-Rokitansky-Kustner-Hauser syndrome and severe teratozoospermia.The challenge of the case presented was threefold: congenital absent uterus (Mayer-Rokitansky-KustnerHauser syndrome), a request for surrogacy, and teratozoospermia in the husband (6% normal morphology according to the Tygerberg strict criteria). Surrogacy was dealt with by means of guidelines proposed by the SA Law Commission after a surrogate mother was found. The gestational carrier was synchronized with the genetic donor with congenital absent uterus, the main aim being assisted reproduction. Two gamete intrafallopian transfer (GIFT) procedures were performed, both unsuccessful. Poor fertilization of excess GIFT oocytes was also observed. Three intracytoplasmic sperm injection procedures were then performed. The first two were unsuccessful and the third ensued in a singleton pregnancy. Hormonal support (progesterone and estradiol valerate until 12 weeks pregnancy duration) was given. The pregnancy resulted in the normal delivery of a healthy male infant at full term. Psychological support was given to mother and surrogate throughout pregnancy, as well as thereafter. The success of this case gives hope to infertile couples with severe infertility factors.- - - - - - - - - - ranking = 1keywords = fertilization (Clic here for more details about this article) |
2/11. Empty follicle syndrome associated with ovarian torsion in an in vitro fertilization program.We report a very rare case of ovarian torsion following controlled ovarian stimulation for in vitro fertilization in which no oocytes were obtained at the time of ovum retrieval from the left torsed ovary. The patient was a 33-year-old nulligravida female undergoing controlled ovarian stimulation. On day 14, the patient complained of lower left abdominal pain with nausea. Transvaginal oocyte retrieval from the right ovary was performed. The patient subsequently underwent laparoscopy 6 hours following oocyte retrieval. A portion of the left ovary was observed. The ovary was detorsed at the time of laparoscopy followed by peritoneal lavage.- - - - - - - - - - ranking = 5keywords = fertilization (Clic here for more details about this article) |
3/11. Preimplantation genetic diagnosis of human congenital heart malformation and Holt-Oram syndrome.Holt-Oram syndrome (HOS) is a multiple malformation syndrome associated with congenital heart malformation (CHM) and caused by mutations in the TBX5 transcription factor. Effective prenatal genetic diagnosis of HOS is limited by factors that modify clinical manifestations and confound prediction of an individual's phenotype. Although preimplantation genetic diagnosis (PGD) has been applied to complex disorders with some cardiovascular manifestations, its utility in Mendelian CHM has not been previously demonstrated. We tested whether PGD and in vitro fertilization (IVF) technology, including oocyte donation, can identify fertilized eggs affected by HOS for potential embryo selection. Five donor oocytes were fertilized in vitro with sperm from a HOS patient heterozygous for a Glu69ter-TBX5 mutation and then underwent embryo biopsy and genotyping. One carried the Glu69ter-TBX5 mutation; all others had wildtype genotypes. Two wildtype blastocysts were transferred to the mother, and the resulting singleton pregnancy was successfully delivered. Mutational analysis of fetal amniocytes and postpartum umbilical cord blood confirmed PGD. Fetal ultrasonography as well as postpartum electrocardiography and echocardiography also validated accurate prediction of normal skeletal and cardiac phenotypes. We conclude that PGD is an effective reproductive strategy for HOS patients. As more genetic etiologies for CHM are identified, application of PGD as adjunctive therapy to IVF will be increasingly available to prevent transmission of such diseases from affected parents to their children. Clinical application of PGD must balance the benefits of avoiding disease transmission with the medical risks and financial burdens of IVF.- - - - - - - - - - ranking = 1keywords = fertilization (Clic here for more details about this article) |
4/11. Assisted reproductive technology and congenital overgrowth: some speculations on a case of Pallister-Killian syndrome.We report on a boy with Pallister-Killian syndrome (PKS) who was conceived by assisted reproductive technology (ART), specifically in vitro fertilization (IVF) with parents' gametes. A prenatal diagnosis performed elsewhere by CVS failed to detect the presence of the isochromosome 12p that was demonstrated postnatally in approximately 50% of cultured skin fibroblasts. Given that the patient did not show the congenital overgrowth typical of PKS, we speculate that ART might have restricted overgrowth in this particular case. More broadly, we hypothesize that overgrowth might protect from early demise fetuses conceived by ART, a technology known to cause low and very low birth weight.- - - - - - - - - - ranking = 1keywords = fertilization (Clic here for more details about this article) |
5/11. hypoparathyroidism-retardation-dysmorphism (HRD) syndrome in triplets.We report female triplets with the clinical and biochemical manifestations of hypoparatyroidism-retardation-dysmorphism (HRD) syndrome also known as Sanjad-Sakati syndrome. They were born at 35 weeks gestation after assisted pregnancy (in vitro fertilization). The parents are first degree cousins from saudi arabia.- - - - - - - - - - ranking = 1keywords = fertilization (Clic here for more details about this article) |
6/11. prenatal diagnosis of Meckel-Gruber syndrome in a pregnancy obtained with ICSI.The association of occipital encephalocele, cleft palate, postaxial polydactyly, polycystic kidneys, and hepatic cysts is well known as Meckel-Gruber syndrome (MGS). Nowadays, the diagnosis of MGS is usually performed prenatally by ultrasound findings. MGS was previously described following in vitro fertilization. We report a case of MGS diagnosed at 17 weeks in a pregnancy obtained with intra-cytoplasmic sperm injection (ICSI).- - - - - - - - - - ranking = 1keywords = fertilization (Clic here for more details about this article) |
7/11. Ovarian hyperstimulation presenting as acute hydrothorax after in vitro fertilization.Ovarian hyperstimulation that occurs with an isolated hydrothorax as the only symptom has previously been reported. We describe the second such case, the first to occur after in vitro fertilization and embryo transfer.- - - - - - - - - - ranking = 5keywords = fertilization (Clic here for more details about this article) |
8/11. Severe ovarian hyperstimulation syndrome. case reports.ovarian hyperstimulation syndrome (OHSS) is a serious complication of ovulation induction. It is most often associated with the administration of human menopausal gonadotropins (hMG) or purified preparation of follicle stimulating hormone (FSH), but has also been reported after clomiphene (CC) and in patients with hydatiform mole and chorioepithelioma. Moreover, OHSS has been observed in cases of multiple pregnancy unrelated to the use of fertility drugs. In recent years, the hormonal induction of ovulation has been practised to an increasing degree, partly due to the extended use in vitro fertilization (IVF) and gamete intra fallopian transfer (GIFT) techniques in the treatment of infertility. This trend will undoubtedly result in a growing number of patients with OHSS: For this reason, it is important to elucidate the pathophysiological mechanisms responsible for trigging this condition and discuss the treatment possibilities once it has arisen. We will present three patients who developed OHSS after different attempts at ovulation induction. Interestingly, aspiration of the follicles, which was carried out in two of the cases, did not influence the progress of the condition.- - - - - - - - - - ranking = 1keywords = fertilization (Clic here for more details about this article) |
9/11. Lack of a head in human spermatozoa from sterile patients: a syndrome associated with impaired fertilization.Three patients with primary sterility in whom the majority of spermatozoa lacked a normally implanted head are presented. A small cephalic knob was evident in most of them by routine colorimetric techniques, and the Feulgen reaction failed to show any deoxyribose nucleic acid. The morphologic features of the tails was normal. Few loose sperm heads were observed in the ejaculates. Even though motility was decreased, there were numerous acephalic sperms with different degrees of forward motility. Electron microscopy showed a well-organized structure of the centrioles and connecting piece, which were located in the neck region within a small cytoplasmic mass, but no chromatin was detected in any case. Studies on immature spermatids present in semen evidenced an independent anomalous development of heads and tails and suggested that they became separated at the end of spermatid maturation. This anomaly, of probable genetic origin, is interpreted to be due either to an alteration in the mechanism of migration and positioning of the tail on the caudal pole of the nucleus or to an interference with the formation of the implantation fossa of the head, which normally accommodates the connecting piece.- - - - - - - - - - ranking = 4keywords = fertilization (Clic here for more details about this article) |
10/11. Testicular regression syndrome.Recently, the testicular regression syndrome has been reported as being representative of a clinical range of XY agonadal persons. A patient with aberrant fetal sexual development is described. Of particular interest is that all of the tissues examined--the rudimentary uterine horn and the 2 fallopian tubes--displayed an XY chromosome complement. Correlation was made between the known temporal events of embryogenesis of the testes and the apparent time of regression of the testes. In this patient, the insult to testicular development, with subsequent testicular regression, occurred between 48 and 60 days after fertilization. This review supports the previously reported thesis that in certain XY persons the testes are irreparably damaged at a critical stage in fetal development, and that this critical stage is represented by a range of abnormalities of genital development. Possible causes and simplified nomenclature for such gonadal damage are presented.- - - - - - - - - - ranking = 1keywords = fertilization (Clic here for more details about this article) |
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