Results 81 to 90 of about 12,612 (210)

EHA Recommendations for preconceptual and antenatal screening and prenatal diagnosis for hemoglobinopathies

HemaSphere, Volume 10, Issue 6, June 2026.
Abstract Thalassemia and sickle cell disease (SCD) are among the most common monogenic disorders worldwide. They cause chronic hemolytic anemia, the consequences and prognosis of which vary considerably depending on the genetic characteristics of patients and the healthcare system in their country of residence.
Mariane de Montalembert, Maria D. Cappellini, Achille Iolascon, Lucia de Franceschi, Eda Ömur, Michele Abi Saad, Immacolata Andolfo, Celeste Bento, Maria Berghs, Doris Bonnet, Andreas Glenthoj, Beatrice Gulbis, Tuphan K. Dolai, Jorge Lima, Irene Motta, Roberta Russo, Ali Taher, Leon Tshilolo, Antonio Almeida, David Rees   +19 more
wiley   +1 more source

Preimplantation genetic diagnosis of haemophilia [PDF]

British Journal of Haematology, 2009
SummaryPreimplantation genetic diagnosis (PGD) aims to increase the number of options available to couples who could have a child affected with haemophilia and reduce the anxiety these couples often associate with reproduction. The female partner must undergo an in vitro fertilization cycle, and the eggs or embryos are then biopsied.
openaire   +2 more sources

Pregnancy Outcomes and Postnatal Health From Transferred Mosaic Embryos Following Preimplantation Genetic Testing for Aneuploidy

iNew Medicine, Volume 2, Issue 2, June 2026.
This illustration synthesizes the methods and conclusion of this study, demonstrating that the transfer of mosaic embryos following reimplantation genetic testing for aneuploidy does not increase the risk to postnatal health. ABSTRACT Next‐generation sequencing (NGS) has increased the detection of mosaic embryos during preimplantation genetic testing ...
Lili Chen, Dehuan Huang, Jingcheng Sang, Yiqi Yin, Caiyun Wu, Yan Hao, Dawei Chen, Zhiguo Zhang, Yunxia Cao, Ri‐Cheng Chian, Ping Zhou   +10 more
wiley   +1 more source

Clinical and molecular characterization of maturity onset-diabetes of the young caused by hepatocyte nuclear factor-4 alpha mutation: red flags for prediction of the diagnosis

Annals of Saudi Medicine, 2014
BACKGROUND AND OBJECTIVES: The prevalence of maturity-onset diabetes of the young (MODY) in Saudi population remains unknown, and data on molecular etiology of this condition is limited.
Sarar Mohamed, Susan Elkholy, Ebtessam El-Meleagy, Khaled Abu-Amero, Ali M. Hellani   +4 more
doaj   +1 more source

Clinical application of preimplantation genetic diagnosis

, 2001
Preimplantation genetic diagnosis (PGD) is an early alternative to prenatal diagnosis that is suitable for a small group of patients who are at substantial risk of conceiving a pregnancy affected by a known genetic defect.
Yeong, C T, H, Bickerstaff, Braude, P, Flinter, F   +3 more
core   +1 more source

Preimplantation Genetic Diagnosis and Deafness [PDF]

Indian Journal of Otolaryngology and Head & Neck Surgery, 2012
Deafness in India ranges from 4.0 % in urban and 4.0-11 % in rural and slum areas, out of which 50 % are of conductive hearing loss hence curable. In the congenital hearing loss the incidence of syndromic hearing loss is only 30 %, rest 70 % are non syndromic. Genetic counseling is going to make aware the parents.
openaire   +2 more sources

Sci‐Fi Parenthood and the End of Love

Journal of Social Philosophy, EarlyView.
Daniela Cutas
wiley   +1 more source

Predicting live birth following single euploid frozen‐embryo transfer via β‐hCG dynamics: iHOPE prognostic model with external validation

Ultrasound in Obstetrics &Gynecology, Volume 67, Issue 6, Page 824-835, June 2026.
ABSTRACT Objectives To determine the prognostic value of serum β‐human chorionic gonadotropin (β‐hCG) for predicting live birth following single euploid frozen‐embryo transfer (FET), and to develop and validate a prognostic model (iHOPE) for this purpose. Methods This retrospective cohort study used data from two large fertility practices.
E. Kalafat, B. Ata, R. Del Gallego, A. Freedman, L. R. Hoyos, I. Elkhatib, K. A. Miller, H. Fatemi, B. Lawrenz   +8 more
wiley   +1 more source

Which is the safer method for trophectoderm biopsy in mouse blastocyst, mechanical or laser?

Clinical and Experimental Obstetrics & Gynecology, 2020
Introduction: This study was conducted to compare hatching rates after assisted hatching, re-expansion rates after trophectoderm biopsy, and survival rates after cryopreservation using different methods of assisted hatching and biopsy in mouse embryo ...
M.S. Jo, H.J. Lee, Y.J. Lee, S.C. Kim, J.K. Joo, K.S. Lee   +5 more
doaj   +1 more source

The role of preimplantation genetic diagnosis in diagnosing embryo aneuploidy.

, 2009
PURPOSE OF REVIEW: Use of preimplantation genetic diagnosis to improve in-vitro fertilization outcomes is reviewed. RECENT FINDINGS: Many embryos produced in vitro contain chromosomal abnormalities and have little potential for forming a viable pregnancy.
Wells, D, Wells, Dagan, Howles, CM, Munné, S   +3 more
core   +1 more source