To review the cumulative outcome of pre-implantation genetic diagnosis (PGD) cycles performed for prevention of sickle cell disease (SCD). Couples referred for PGD for SCD between April 2012 and October 2017 were included. Ovarian stimulation was performed using a short gonadotrophin-releasing hormone (GnRH) antagonist protocol and follicle-stimulating hormone injections. The GnRH agonist was used to trigger oocyte maturation. Oocytes were fertilised using intracytoplasmic sperm injection. Trophectoderm biopsy was performed on day 5 or 6 followed by vitrification. Genetic testing was done using pre-implantation genetic haplotyping. A total of 60 couples started 70 fresh PGD cycles (mean 1·2 cycles/couple) and underwent a total of 74 frozen-embryo-transfer (FET) cycles (mean 1·3 FET/couple). The mean (SD) female age was 33 (4·4) years and the mean (SD) anti-müllerian hormone level was 22·9 (2·8) pmol/l. The cumulative live-birth rate was 54%/PGD cycle started and 63%/couple embarking on PGD. The rate of multiple births was 8%. The cumulative outcome of PGD treatment for prevention of SCD transmission is high and PGD treatment should be offered to all at-risk couples.

Download full-text PDF

Source
http://dx.doi.org/10.1111/bjh.16930DOI Listing

Publication Analysis

Top Keywords

cumulative outcome
12
pre-implantation genetic
12
outcome pre-implantation
8
genetic diagnosis
8
sickle cell
8
cell disease
8
pgd cycles
8
pgd treatment
8
pgd
6
cumulative
4

Similar Publications

Background: Prescribing physical exercise as part of the clinical treatment of cancer patients has become an important strategy in the therapeutic arsenal available in the main health centers specialized in neoplastic diseases, but there is still uncertainty regarding the role of regular physical activity in modifying oxidative stress markers and antioxidants, as high levels of oxidative stress can lead to the development of carcinogens. Therefore, we assessed the effect of physical activity versus absence of physical activity on markers of oxidative stress and antioxidants in cancer patients.

Methods: We looked for randomized controlled trials that included adult with any type of cancer performing some physical activity and compared them to a control group of cancer patients with no physical activity.

View Article and Find Full Text PDF

Homologous recombination promotes non-immunogenic mitotic cell death upon DNA damage.

Nat Cell Biol

January 2025

Genome Integrity Unit, Children's Medical Research Institute, University of Sydney, Westmead, New South Wales, Australia.

Double-strand breaks (DSBs) can initiate mitotic catastrophe, a complex oncosuppressive phenomenon characterized by cell death during or after cell division. Here we unveil how cell cycle-regulated DSB repair guides disparate cell death outcomes through single-cell analysis of extended live imaging. Following DSB induction in S or G2, passage of unresolved homologous recombination intermediates into mitosis promotes non-immunogenic intrinsic apoptosis in the immediate attempt at cell division.

View Article and Find Full Text PDF

Adenomyosis patterns on transvaginal sonography could predict the obstetrical outcomes of fertility-sparing surgeries: A retrospective cohort study.

J Minim Invasive Gynecol

January 2025

Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Beijing 100730, China; National Clinical Research Center for Obstetric & Gynecologic Diseases, Beijing 100730, China; State Key Laboratory for Complex, Severe and Rare Diseases, Peking Union Medical College Hospital, Beijing 100730, China. Electronic address:

Study Objective: To explore the associations between adenomyosis patterns on transvaginal sonography (TVS) and surgical outcomes.

Design: A retrospective cohort study.

Setting: Peking Union Medical College Hospital, Beijing, China.

View Article and Find Full Text PDF

Background And Purpose: Numerous studies have demonstrated the effectiveness of Chinese medicine injections (CMIs) in treating diabetic lower extremity arterial disease (Dia-LEAD). However, with the variety of CMIs available, it has become challenging to determine the optimal choice for Dia-LEAD patients. This study aims to compare and rank the efficacy of CMIs for Dia-LEAD to provide references and evidence for clinicians in optimising drug selection.

View Article and Find Full Text PDF

As the elderly population expands, enhancing emergency department (ED) care by assessing frailty becomes increasingly vital. To address this, we developed a novel electronic Frailty Index (eFI) from ED health records, specifically designed to assess frailty and predict hospitalization, in-hospital mortality, ICU admissions, and 30-day ED readmissions. This retrospective, single-center study included patients 65 years old or older who presented to the ED of IRCCS Humanitas Research Hospital in Milan, Italy, between January 2015 and December 2019.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!