Results 1 to 10 of about 24,692 (232)

Metabolomics in Prenatal Medicine: A Review

open access: yesFrontiers in Medicine, 2021
Pregnancy is a complicated and insidious state with various aspects to consider, including the well-being of the mother and child. Developing better non-invasive tests that cover a broader range of disorders with lower false-positive rates is a ...
Giovanni Monni   +7 more
doaj   +1 more source

Metabolomics Analysis of Amniotic Fluid in Euploid Foetuses with Thickened Nuchal Translucency by Gas Chromatography-Mass Spectrometry

open access: yesLife, 2021
Persistence of a fetal thickened nuchal translucency (NT), one of the most sensitive and specific individual markers of fetal disorders, is strongly correlated with the possibility of a genetic syndrome, congenital infections, or other malformations ...
Federica Murgia   +7 more
doaj   +1 more source

Preimplantation genetic diagnosis

open access: yesThe Lancet, 2004
Preimplantation genetic diagnosis (PGD) was introduced at the beginning of the 1990s as an alternative to prenatal diagnosis, to prevent termination of pregnancy in couples with a high risk for offspring affected by a sex-linked genetic disease. At that time, embryos obtained in vitro were tested to ascertain their sex, and only female embryos were ...
Sermon, Karen   +2 more
  +11 more sources

Preimplantation genetic diagnosis [PDF]

open access: yesInternational Journal of Gynecology & Obstetrics, 2003
Preimplantation genetic diagnosis (PGD) is an exciting new approach for the prevention of transmission of genetic disorders between generations. The use of genetically screened, healthy embryos to establish a pregnancy avoids the need for termination of an affected pregnancy, a procedure which can be traumatic physically and emotionally for potential ...
G-L, Zhuang, J, Deng, D, Zhang
openaire   +4 more sources

Predictive Factors for Recovery Time in Conceived Women Suffering From Moderate to Severe Ovarian Hyperstimulation Syndrome

open access: yesFrontiers in Endocrinology, 2022
ObjectiveThis study aimed to evaluate potential predictors for recovery time in pregnant patients with moderate to severe ovarian hyperstimulation syndrome (OHSS).MethodsA total of 424 pregnant patients with moderate to severe OHSS who underwent in vitro
Kai Huang   +4 more
doaj   +1 more source

Legal Regulation of Preimplantation Genetic Diagnosis: A Comparative Analysis of the Baltic Sea Region and the Nordic Countries

open access: yesTeisė, 2022
This paper examines the concept and regulation of some of the latest research in the field of fertility – preimplantation genetic diagnosis – in Lithuania, Poland, the Baltic States, and the Nordic countries.
Nastė Grubliauskienė
doaj   +1 more source

Seminal Fluid Metabolomic Markers of Oligozoospermic Infertility in Humans

open access: yesMetabolites, 2020
Infertility affects 12−15% of couples worldwide, and male factors are the cause of nearly half of all cases. Studying seminal fluid composition could lead to additional diagnostic accuracy and a better understanding of the pathophysiology of male ...
Federica Murgia   +9 more
doaj   +1 more source

First Successful Application of Preimplantation Genetic Diagnosis for Lethal Neonatal Rigidity and Multifocal Seizure Syndrome in Korea: A Case Report [PDF]

open access: yesNeonatal Medicine, 2022
Lethal neonatal rigidity and multifocal seizure syndrome (RMFSL) is a severe autosomal recessive epileptic encephalopathy characterized by rigidity, intractable multifocal seizures, microcephaly, apnea, and bradycardia immediately after birth.
Gyeong Eun Yeom   +5 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

Robust preimplantation genetic testing of the common F8 Inv22 pathogenic variant of severe hemophilia A using a highly polymorphic multi-marker panel encompassing the paracentric inversion

open access: yesThrombosis Journal, 2023
Background Hemophilia A (HEMA) is an X-linked bleeding disorder caused by reduced/absent coagulation factor VIII expression, as a result of pathogenic variants in the F8 gene. Preimplantation prevention of HEMA should ideally include direct pathogenic F8
Minh Tam Nguyen   +11 more
doaj   +1 more source

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