Entry exams for the embryo

SCOPUS: ar.jinfo:eu-repo/semantics/publishe

Prenatal diagnosis of inborn errors of metabolism. Present status and new approaches

SCOPUS: ar.jinfo:eu-repo/semantics/publishe

Assessing congenital anomalies after preimplantation genetic diagnosis

Background: Preimplantation genetic diagnosis is an exciting advance in prenatal diagnosis. However, the safety of embryo biopsy must be determined with respect to both pregnancy rate and cogenital anomalies. Analysis: Too few pregnancies have been reported to allow meaningful inferences to be drawn, for which reason data on pregnancy losses and anomalies after conventional IVF were first reviewed. Loss rates are approximately 25%, and anomaly rates are not increased over that observed in the general population. Unfortunately, considerable methodological problems exist in published surveys: lack of proper controls, failure to take into account potential confounding variables, anomaly surveillance that is inconsistent with respect to the vigor with which anomalies are sought, inclusion or exclusion of minor anomalies, inclusion or exclusion of anomalies evident only on ultrasound, and even inclusion or exclusion of anomalies present in terminated pregnancies. We recommend prospective surveillance for major anomalies, defined as those causing death, major handicap or requiring surgery. Prospective surveillance ideally dictates collection of intake information at the time pregnancy is diagnosed, surveillance during pregnancy to exclude teratogenic influences, and systematic neonatal anomaly surveillance.SCOPUS: ar.jinfo:eu-repo/semantics/publishe

Multiple sulphatase deficiency with early onset

SCOPUS: ar.jinfo:eu-repo/semantics/publishe

SEPARATION DES ISOENZYMES DE L'HEXOSAMINIDASE DANS LES LEUCOCYTES ET LES CULTURES DE FIBROBLASTES ET CELLULES AMNIOTIQUES NORMALES :MISE EN EVIDENCE DE TROIS FRACTIONS

By using the electrophoresis of hexosaminidases in very concentrated extracts containing leucocytes, fibroblastic cultures and normal amniotic cells, the 3 fractions are constantly separated. After thermal inactivation, the third fraction disappears almost completely, the A becomes weaker and the B becomes wider and more fluorescent. The 3 fractions seem to hydrolyse the heterosides of glucosamine more rapidly than that of galactosamine.SCOPUS: NotDefined.jinfo:eu-repo/semantics/publishe

Study of the β hexosaminidase separation by electrophoresis in homozygote and heterozygote Tay Sachs cultured fibroblasts

The electrophoretic β hexosaminidase pattern of Tay Sachs fibroblasts shows a large fraction corresponding to the B fraction of normal material, and a second fraction within the same electrophoretic mobility as the third fraction found in normal fibroblasts. The combined data of qualitative enzyme assays before and after heat inactivation and the electrophoretic pattern seem to give a reliable approach to the problem of detection of homozygote and heterozygote patients.SCOPUS: NotDefined.jinfo:eu-repo/semantics/publishe

Infertilites masculines d'origine genetique

Several etiological factors in male infertility have been identified and it is now clear that a proportion of these factors have a genetic basis. This implies that using assisted reproductive technology procedures and especially intracytoplasmic sperm injection these genetic factors may be transmitted to the children. The following genetic factors involved in severe male infertility will be discussed: the presence of numerical and structural chromosomal anomalies, the occurrence of microdeletions on the long arm of the Y chromosome and the relation between cystic fibrosis and congenital bilateral absence of the vas deferens.SCOPUS: ar.jinfo:eu-repo/semantics/publishe

Preimplantation genetic diagnosis: Risks and complications

Preimplantation genetic diagnosis (PGD) is a medical procedure involving in vitro fertilization (IVF), oocyte or embryo biopsy and genetic analysis of the polar bodies and/or blastomeres before transfer of an embryo to the uterus. As an alternative to prenatal diagnosis, this procedure allows couples at risk of transmitting a hereditary disease to have unaffected children. The first PGDs, involving sex determination with transfer of XX embryos because of sex-linked disease in the family, were reported in 1990 by Handyside and associates1.SCOPUS: ch.binfo:eu-repo/semantics/publishe

Intracytoplasmic sperm injection

Intracytoplasmic sperm injection (ICSI) with ejaculated, epididymal or testicular spermatozoa was first successful in 1992 and has since become the widely accepted treatment for couples with severe male-factor infertility. The outcome of several thousands of ICSI cycles in terms of fertilization, embryo cleavage and implantation is similar to that for conventional in-vitro fertilization in couples with tubal or idiopathic infertility. To evaluate the important issue of safety of the new technique of ICSI, a prospective follow-up study of children born after ICSI was carried out. The aim was to compile data on karyotypes, congenital malformations, growth parameters and developmental milestones. Parents' agreement to genetic counseling was obtained, as well as prenatal diagnosis, followed by a physical examination of the children at 2 months, 1 and 2 years. Important outcome data to be examined comprise information on major and minor congenital malformations obtained prenatally or after birth, as well as on the further development of the children. © 2002 Elsevier Science Ireland Ltd. All rights reserved.SCOPUS: cp.jinfo:eu-repo/semantics/publishe

Biochemical characterization of neonatal multiple sulfatase deficient (MSD) disorder cultured skin fibroblasts

Cultured skin fibroblasts of a patient with a neonatal onset of MSD can be distinguished from usual type of MSD cells by enzyme assays of arylsulfatases A, B and C activities, effect of thiosulfate on arylsulfatase A activity and 35SO4-acid mucopolysaccharide accumulation and degradation. These data suggest that neonatal onset of MSD is a distinct disorder from usual type of MSD in term of genetic occurence. © 1982.SCOPUS: ar.jinfo:eu-repo/semantics/publishe