The inheritance pattern of monogenic inheritable disorders influences the proportion of unaffected embryos after preimplantation genetic diagnosis (PGD). We aimed to investigate the influence of the number of cumulus-oocyte complexes (COC) on the outcome after PGD. Eighty-four cycles of 47 couples were included in our analysis. All couples were at risk of transmitting autosomal recessive, autosomal dominant, X-linked single gene disorders or sexaneuploidies to their offspring. One PGD cycle was carried out for a Yq-deletion of the man. The correlation between the numbers of COC and biopsied embryos and between the numbers of COC and unaffected embryos was highly significant (P <0.05). A pregnancy occurred in 15 cycles and a minimum of six COC were needed to achieve a pregnancy. Thirteen pregnancies were observed in cycles with at least 9 COC. The transfer rate and number of transferred embryos per cycle in the subgroups with <9 COC and > or =9 COC were significantly higher in the latter. Although pregnancy rates did not differ significantly between the two subgroups (probably due to the low number of pregnancies), our data indicate that it is justifiable to cancel PGD cycles in which it is expected that <6 COC will be retrieved and that the couple should be informed about the poor prognosis if <9 COC are retrieved.
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http://dx.doi.org/10.1093/humrep/13.11.3169 | DOI Listing |
Arch Gynecol Obstet
January 2025
Department of Obstetrics and Gynecology, McGill University, 845 Rue Sherbrooke, O, Montreal, QC, 3HA 0G4, Canada.
Purpose: To examine the association between blastocyst morphology and chromosomal status utilizing pre-implantation genetic testing for aneuploidy (PGT-A).
Methods: A single-center retrospective cohort study including 169 in-vitro fertilization cycles that underwent PGT-A using Next Generation Sequencing (2017-2022). Blastocysts were morphologically scored based on Gardner and Schoolcraft's criteria.
Pharmacogenet Genomics
January 2025
Reproductive Medicine, Instituto Bernabeu of Fertility and Gynaecology.
The research question is as follows: Are estrogen and progesterone receptor genotypes associated with thin endometrium? We performed a prospective cohort study of 129 patients who underwent preimplantation genetic testing for aneuploidies. These patients were categorized according to endometrial thickness: >7 mm control group (n = 94) and ≤7 mm study group (n = 35). Polymorphisms in the genes ESR1 (rs9340799 and rs3138774), ESR2 (rs1256049 and rs4986938), and PGR (rs1042838) were analyzed.
View Article and Find Full Text PDFReprod Fertil Dev
January 2025
Fertility & Research Centre, Discipline of Women health, School of Clinical Medicine and the Royal Hospital for Women, University of New South Wales, Sydney, NSW, Australia.
Pre-implantation genetic testing for aneuploidy (PGT-A) via embryo biopsy helps in embryo selection by assessing embryo ploidy. However, clinical practice needs to consider the invasive nature of embryo biopsy, potential mosaicism, and inaccurate representation of the entire embryo. This creates a significant clinical need for improved diagnostic practices that do not harm embryos or raise treatment costs.
View Article and Find Full Text PDFLife Metab
April 2024
Clinical and Translational Research Center of Shanghai First Maternity and Infant Hospital, Shanghai Key Laboratory of Signaling and Disease Research, Frontier Science Center for Stem Cell Research, School of Life Sciences and Technology, Tongji University, Shanghai 200092, China.
BMC Pregnancy Childbirth
January 2025
Assisted Reproduction Center, Northwest Women's and Children's Hospital, No. 73 Houzai Gate, Xincheng District, Xi'an, 710003, Shaanxi province, People's Republic of China.
Background: Up to now, a number of studies have explored the influence of blastocyst biopsy on maternal and neonatal outcomes, and the results have been somewhat inconsistent. Therefore, the aim of this study was to investigate whether blastocyst biopsy is associated with an elevated risk of hypertensive disorders of pregnancy (HDP) and other adverse perinatal outcomes during frozen embryo transfer (FET) cycles in singleton live births resulting from intracytoplasmic sperm injection (ICSI) in women aged ≤ 35 years.
Methods: A total of 1,008 women were involved in this study from January 2020 to June 2022, who underwent ICSI cycles and received single FET, leading to the birth of a live singleton newborn.
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