Results 21 to 30 of about 12,612 (210)

Preimplantation genetic diagnosis of hemophilia A. [PDF]

open access: yesThromb J, 2016
Preimplantation genetic diagnosis (PGD) is a powerful tool to tackle the transmission of monogenic inherited disorders in families carrying the diseases from generation to generation. It currently remains a challenging task, despite PGD having been developed over 25 years ago. The major difficulty is it does not have an easy and general formula for all
Chen M   +8 more
europepmc   +4 more sources

A ‘healthy baby’: The double imperative of preimplantation genetic diagnosis [PDF]

open access: yes, 2010
This is the author's accepted manuscript. The final published article is available from the link below. Copyright @ 2010 The Authors.This article reports from a study exploring the social processes, meanings and institutions that frame and produce ...
Williams, C   +3 more
core   +1 more source

Which Factors Are Associated With Reproductive Outcomes of DOR Patients in ART Cycles: An Eight-Year Retrospective Study

open access: yesFrontiers in Endocrinology, 2022
IntroductionWomen with diminished ovarian reserve (DOR) have a lower pregnancy rate and higher cancellation rate compared to those without DOR when seeking assisted reproductive technology. However, which factors are associated with reproductive outcomes
Lu Li   +19 more
doaj   +1 more source

Practices and ethical concerns regarding preimplantation diagnosis. Who regulates preimplantation genetic diagnosis in Brazil? [PDF]

open access: yesBrazilian Journal of Medical and Biological Research, 2015
Preimplantation genetic diagnosis (PGD) was originally developed to diagnose embryo-related genetic abnormalities for couples who present a high risk of a specific inherited disorder.
B.B. Damian   +2 more
doaj   +3 more sources

PROBLEMS OF LEGAL REGULATION OF THE PROTECTION OF GENETIC INFORMATION OBTAINED BY METHODS OF PREIMPLANTATION AND PRENATAL GENETIC DIAGNOSIS, IN THE RUSSIAN FEDERATION

open access: yesПравовое государство: теория и практика, 2022
In the context of the active development of the areas defined by the Concept of Predictive, Preventive and Personalized Medicine, genodiagnostics, applied at the stage of family planning, is of particular importance.
AKHTYAMOVA Evgeniya Viktorovna   +2 more
doaj   +1 more source

A Case of Enlarged Intracranial Translucency in a Fetus with Blake’s Pouch Cyst

open access: yesCase Reports in Obstetrics and Gynecology, 2014
The intracranial translucency (IT) is a recently introduced marker of open spina bifida (OSB). In this study, we describe a case of a fetus affected by Blake’s pouch cyst which showed alterations of BS/BSOB ratio at the first trimester screening.
Ambra Iuculano   +3 more
doaj   +1 more source

Identification of Novel Microsatellite Markers Flanking the SMN1 and SMN2 Duplicated Region and Inclusion Into a Single-Tube Tridecaplex Panel for Haplotype-Based Preimplantation Genetic Testing of Spinal Muscular Atrophy

open access: yesFrontiers in Genetics, 2019
Preimplantation genetic testing for the monogenic disorder (PGT-M) spinal muscular atrophy (SMA) is significantly improved by supplementation of SMN1 deletion detection with marker-based linkage analysis. To expand the availability of informative markers
Mingjue Zhao   +8 more
doaj   +1 more source

The Relationship Between Serum Delta FSH Level and Ovarian Response in IVF/ICSI Cycles

open access: yesFrontiers in Endocrinology, 2020
BackgroundWhen ovarian response to FSH stimulation for IVF/ICSI is unsatisfactory, the FSH dose is often adjusted in the treatment cycles, thereby assuming that hormone status and follicular development were insufficient for optimal stimulation ...
Linli Hu   +27 more
doaj   +1 more source

Gene Spectrum and Clinical Traits of Nine Patients With Oocyte Maturation Arrest

open access: yesFrontiers in Genetics, 2022
Background: Oocyte maturation arrest is a disease that produces immature oocytes and cannot be mature after culturing in vitro, which leads to female primary infertility. We aimed to summarize nine representative patients in our center to retrospectively
Mingzhu Huo   +31 more
doaj   +1 more source

Color Doppler Score: A New Approach for Monitoring a Large Placental Chorioangioma

open access: yesCase Reports in Obstetrics and Gynecology, 2014
We employed color Doppler score as an innovative approach for the prenatal diagnosis and monitoring of a large placental chorioangioma case diagnosed at 26 weeks and the subjective semiquantitative assessment of the vascularization.
Maria Angelica Zoppi   +7 more
doaj   +1 more source

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