scholarly journals Preimplantation Genetic Diagnosis in Marfan Syndrome

2013 ◽  
Vol 2013 ◽  
pp. 1-3 ◽  
Author(s):  
N. F. Vlahos ◽  
O. Triantafyllidou ◽  
N. Vitoratos ◽  
C. Grigoriadis ◽  
G. Creatsas
Keyword(s):  
Marfan Syndrome ◽  
Preimplantation Genetic Diagnosis ◽  
Genetic Diagnosis ◽  
Male Infant ◽  
Caucasian Woman ◽  
Aortic Dilatation ◽  
Singleton Pregnancy ◽  
Vitro Fertilization ◽  
Transmission Of Disease

Marfan syndrome (MFS) is a systemic hereditable disorder of the connective tissue with mainly cardiovascular manifestations, such as aortic dilatation and dissection. We describe a case of a 32-year-old Caucasian woman, clinically asymptomatic with MFS who presented for genetic consultation to prevent the transmission of disease to her offspring. She underwent controlled ovarian stimulation (COH), in vitro fertilization (IVF) combined with preimplantation genetic diagnosis (PGD), and a singleton pregnancy with positive fetal heart rate was revealed. At 34 weeks’ gestation she delivered vaginally a healthy premature male infant weighting 2440 gr. The patient remained asymptomatic during pregnancy, delivery, and 3 months postpartum. It is has to be mentioned that the availability of PGD is essential to prevent the transmission of disease to the next generation.

scholarly journals Preimplantation Genetic Diagnosis for Severe Albright Hereditary Osteodystrophy

2008 ◽  
Vol 93 (3) ◽  
pp. 901-904 ◽  
Author(s):  
Steven A. Lietman ◽  
James Goldfarb ◽  
Nina Desai ◽  
Michael A. Levine
Keyword(s):  
In Vitro Fertilization ◽  
Outcome Measures ◽  
Preimplantation Genetic Diagnosis ◽  
Genetic Diagnosis ◽  
Male Infant ◽  
Severe Form ◽  
Vitro Fertilization ◽  
Gnas Gene ◽  
Gnas Mutation

Abstract Context: Preimplantation genetic diagnosis (PGD) enables the selection of embryos without mutations for implantation and has not been described to our knowledge for mutations in GNAS. Phocomelia in a patient with Albright hereditary osteodystrophy (AHO) has also not been previously described. Objective: The aim of this study was to identify a GNAS mutation in a patient with a severe form of AHO and pseudohypoparathyroidism type 1a with phocomelia and to perform PGD on embryos derived by in vitro fertilization to deliver an unaffected infant. Design: A proband and his family are described clinically, the GNAS gene was sequenced to identify a novel mutation in the proband, and PGD was performed on embryos. Setting: The setting was in a tertiary-care hospital. Patients: The patients were from a single family in which the proband has a severe form of AHO. Interventions: Interventions were PGD and in vitro fertilization. Main Outcome Measures: The main outcome measures were the clinical phenotypes and GNAS gene sequences of the proband, embryos, and family members. Results: After PGD, three genotypically normal embryos were transferred back to the mother. Pregnancy ensued, and a healthy male infant was delivered at 36.5 wk gestation. The GNAS genes in the baby were confirmed as wild-type, and the infant is free of any signs of AHO. Conclusions: We describe herein a proband with AHO and severe skeletal deformities (including phocomelia) related to a novel GNAS mutation and the delivery of a male infant with homozygous normal GNAS genotype after PGD.

Problems and prerequisites for determining the legal regime preimplantation genetic diagnosis in Russian legislation

2019 ◽  
Author(s):  
N.A. Altinnik , S.S. Zenin , V.V. Komarova et all ,
Keyword(s):  
In Vitro Fertilization ◽  
Preimplantation Genetic Diagnosis ◽  
Human Embryo ◽  
Legal Status ◽  
Genetic Diagnosis ◽  
Legal Regime ◽  
Vitro Fertilization

Сurrent problems and prerequisites for the formation of the legal regime of pre-implantation genetic diagnosis (PGD) are considered in Russian legislation with account the existing approaches to determining the legal status of a “pre-implantation” embryo obtained in the framework of the in vitro fertilization procedure (IVF) are discussed. The authors substantiates the conclusion that it is necessary to legally determine PGD as one of the stages of using IVF, as well as establishing generally binding requirements for the procedure, conditions and features of this diagnosis, taking into account the need to minimize the damage caused to the human embryo.

Preimplantation genetic diagnosis for the treatment of failed in vitro fertilization–embryo transfer and habitual abortion

2004 ◽  
Vol 81 (5) ◽  
pp. 1302-1307 ◽  
Author(s):  
Martin Wilding ◽  
Robert Forman ◽  
George Hogewind ◽  
Loredana Di Matteo ◽  
Fulvio Zullo ◽  
...  
Keyword(s):  
In Vitro Fertilization ◽  
Embryo Transfer ◽  
Preimplantation Genetic Diagnosis ◽  
Genetic Diagnosis ◽  
Vitro Fertilization ◽  
Habitual Abortion

scholarly journals Potential usefulness of preimplantation genetic diagnosis in the control and prevention of genetic diseases

1999 ◽  
Vol 5 (6) ◽  
pp. 1134-1139
Author(s):  
M. A. El Hazmi
Keyword(s):  
Prenatal Diagnosis ◽  
Preimplantation Genetic Diagnosis ◽  
Genetic Disorder ◽  
Genetic Diseases ◽  
Genetic Diagnosis ◽  
Potential Usefulness ◽  
Vitro Fertilization ◽  
Polar Bodies ◽  
Control And Prevention

Prenatal diagnosis of molecular mutations can be of immense value, since diagnosis followed by genetic counselling provides the most appropriate approach to genetic diseases control and prevention. However, ethical, psychosocial and religious considerations hamper adoption of prenatal diagnosis in communities where termination of a pregnancy may not be acceptable. Recently, preimplantation genetic diagnosis has attracted considerable interest. This involves in vitro fertilization, followed by genetic disorder diagnosis using polar bodies or cells extracted from a blastomere stage. The normal blastomere is implanted in the womb and pregnancy proceeds naturally. If an abnormality is diagnosed, the blastomere is not implanted, thus preventing pregnancy with the affected fetus. This paper outlines the potential usefulness of preimplantation genetic diagnosis in the control and prevention of genetic disease in our part of the world

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