Aim Of The Study: To assess the PGD results in couples with robertsonian and reciprocal translocations.
Design: Retrospective study.
Setting: Sanatorium Pronatal, Prague, accredited IVF unit.
Methods: 94 infertile couples with translocation (44 couples with robertsonian and 50 couples with reciprocal translocations) were included in the study. The mean woman's age was not different: 33 +/- 4,4 in robertsonian vers. 33 +/- 3.9 in reciprocal translocations. The performance of FISH probes in specific cases was tested on patient's lymfocytes before the treatment was started. After ovarian stimulation (recombinant FSH or hMG + GnRH agonist, "long" protocol) and transvaginal oocyte pick-up, embryo biopsy of a single cell was performed 72 hours after fertilization. After blastomere fixation, translocated chromosomes + chromosomes 13, 18, 21, X and Y were tested using FISH. The maximum of two embryos euploid for detected chromosomes were transferred, supernumerary euploid embryos were frozen.
Results: From the total number of 629 embryos, 126 embryos (21.9%) were detected as normal or with balanced translocation--25.2% (68/270) in couples with robertsonian and 16.4% (59/359) with reciprocal translocation. Embryotransfer was performed in 30 cycles (68.2%) in robertsonian and 27 (54%) in reciprocal translocations. 24 pregnancies were achieved--15 (39% per cycle and 50% per ET) for robertsonian and 9 (19% per cycle and 33% per ET) for reciprocal translocation--this difference was statistically significant (p = 0.033). Only one pregnancy in each group ended as abortion.
Summary: IVF is a valuable option for couples with infertility problems and translocation. This technique allows in short-term a conception and delivery of a healthy baby with general better prognosis for couples with robertsonian translocation.
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Influence of the Sex of Translocation Carrier on Clinical Outcomes of Couples Undergoing Preimplantation Genetic Testing.
Mol Genet Genomic Med
January 2025
Center of Reproductive Medicine, Affiliated Children's Hospital of Shanxi & Women Health Center of Shanxi Medicine University, Taiyuan, Shanxi, China.
Introduction: This study investigated the impact of the carrier on transferable blastocyst rate and live birth outcomes in couples with structural chromosomal abnormalities.
Methods: Couples were grouped into reciprocal translocation, Robertsonian translocation, or inversions groups, and clinical data were retrospectively analyzed. Preimplantation genetic testing for chromosomal structural rearrangements (PGT-SR) was conducted, and pregnancy outcomes were compared.
The Value of Parental Karyotyping in Recurrent Pregnancy Loss Lies in Individual Risk Assessments.
Medicina (Kaunas)
October 2024
Laboratory of Human Genomics, University of Medicine and Pharmacy of Craiova, 200638 Craiova, Romania.
Recurrent pregnancy loss (RPL) is a multifactorial condition, encompassing genetic, anatomical, immunological, endocrine, as well as infectious and environmental factors; however, the etiology remains elusive in a substantial number of cases. Genetic factors linked to RPL include parental karyotype abnormalities (e.g.
View Article and Find Full Text PDFEffects of Carrier's sex on the outcome of embryos and pregnancies in 412 couples undergoing preimplantation genetic testing for structural rearrangements.
Gene
January 2025
Reproductive Medical Center, Guangdong Women and Children Hospital, Guangzhou, Guangdong Province 511400, China. Electronic address:
Article Synopsis
- - The study aimed to determine how the sex of the carrier affects embryo outcomes and pregnancies in couples participating in preimplantation genetic testing for structural rearrangements (PGT-SR).
- - In a retrospective analysis of 412 couples, results showed that male carriers had a higher rate of genetically transferable blastocysts compared to female carriers (34.0% vs 31.7%), primarily due to different segregation patterns in the Robertsonian translocation subgroup.
- - The findings suggest that while the sex of the carrier impacts embryo transfer rates, other pregnancy outcomes remained similar, and the differences were mainly observed in the RobT subgroup, with minor variations noted in the RecT subgroup.
Chromosome segregation of human nonhomologous Robertsonian translocations: insights from preimplantation genetic testing.
Eur J Hum Genet
September 2024
Natera, Inc., San Carlos, CA, USA.
Article Synopsis
- Robertsonian translocations (robs) can lead to risky chromosome imbalances during reproduction, and Preimplantation Genetic Testing (PGT) helps evaluate these patterns early on.
- In a study involving 296 couples, results showed that male rob carriers had a higher likelihood of producing embryos with normal chromosome complements compared to female carriers, with significant differences in the number of viable blastocysts available.
- The findings suggest that during sperm development, there may be a natural selection against unbalanced chromosome forms, and PGT is a valuable tool for counseling rob carriers regarding their chances of having healthy embryos.
Trisomy 21 with Maternally Inherited Balanced Translocation (15q;22q) in a Female Fetus: A Rare Case of Probable Interchromosomal Effect.
Cells
June 2024
U.O.C. Genetica Medica, A.O.U. Federico II, 80131 Naples, Italy.
Chromosomal rearrangements can interfere with the disjunction and segregation of other chromosome pairs not involved in the rearrangements, promoting the occurrence of numerical abnormalities in resulting gametes and predisposition to trisomy in offspring. This phenomenon of interference is known as the interchromosomal effect (ICE). Here we report a prenatal case potentially generated by ICE.
View Article and Find Full Text PDFWant 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!