Successful Live Twin Birth through IVF/ICSI from a Couple with an Infertile Father with Pericentric Inversion of Chromosome 9 (p12q13): A Case with a High Aneuploidy Rate

Introduction: Since 1956 karyotype analysis becomes an essential part of routine medical diagnostics, and helped medical professionals investigate the origin of genetic abnormalities in many constitutional and cancer diseases. Karyotyping also provided more information in the monitoring of fertility problems. An inversion does not usually have a phenotypic effect, especially if it involves a heterochromatin area, such as 9qh. Chromosome 9 polymorphism, with breakpoints p11q13/p12q13, can be the cause of variant abnormal clinical conditions such as congenital abnormalities, hematological diseasesand also could have a connection with pregnancy loss and fertility failure. Methods: A retrospective study was conducted on 1784 cytogenetics examination results from peripheral blood samples in the period from January, 2012 to December, 2022. The patients, carriers inv(9) in their karyotype were highlighted for detailed analysis. Results: Among the 1784 patients, constitutional pericentric inversion inv(9)(p11q13) was found in 13 females (0,72%), while it was seen in 17 cases of males (0.95%). The total average amount of inv (9) in this study is 1.68%. The inv(9) population consists of 60% cases with infertility problems, 6,66% females who had spontaneous abortus and 33,33% were patientsreferred to our laboratory for other reasons. Conclusion: In this research, the prevalence of inv (9) in the population of patients of Northeast Bosnia and Herzegovina who had the reproductive failure is shown. We believe that these results will help in finding the key to the truth about the association of this chromosome polymorphism with some pathological conditions such as fertility problems.

show abstract

“…Reference [30] reported a case of a middle-aged couple with a fertility problems. The woman had a previous marriage in which she had children.…”

Section: Discussionmentioning

confidence: 99%

Prevalence And Possible Effects of Pericentric Inversion of Chromosome 9 on Reproductive Failure in A Human Population of Northeast Bosnia and Herzegovina: A 10-year Retrospective Study

Mešanović

Perić²,

Vareškić³

2023

EJMED

View full text Add to dashboard Cite

show abstract

“…Twins have been linked with paternal chromosomal inversion, inv(9)(p11,q13) [13]. Orioli et al reported that only 6 of 231 infants with cyclopia were twins in 25.6 million births [8].…”

Section: Discussionmentioning

confidence: 99%

Pericentric Inversion of Chromosome 9 in Twins With Cyclopia: A Rare Entity

Lah¹,

Taib²,

Zon³

et al. 2023

Cureus

View full text Add to dashboard Cite

Pericentric inversion of chromosome 9 (inv( 9)) is one of the most common variants seen in a normal human karyotype that occurs during meiosis.Despite being categorized as a normal variant, some studies using classical cytogenetics have recently shown that inv(9) could be associated with azoospermia, congenital anomalies, growth retardation, and rarely with abnormal karyotype. However, there is no reported association with cyclopia. Interestingly this genetic variant involves twin fetuses.A 36-year-old multiparous lady with dichorionic diamniotic twin pregnancy presented to the fetomaternal unit with fetal growth restriction at 34 weeks of gestation. An ultrasound scan revealed both have microcephaly, fisting hands, holoprosencephaly, and proboscis suspicious of Patau syndrome. Amniocentesis was not issued due to late pregnancy and guarded prognosis. The mother presented with preeclampsia at 35 weeks of gestation. The pregnancy managed to prolong up to 36 weeks after which caesarean section was performed due to the leading twin being in a transverse lie. Two baby twin girls were born 3 minutes apart with microcephaly and cyclops appearance. Chromosomal analysis of both twins revealed similar karyotypes of 46, XX, inv(9)(p11,q13). Pericentric inversion of chromosome 9 is regarded as a normal chromosomal variation in the general population, but in twins with cyclops is considered rare. Early referral to a tertiary hospital for twin management is highly required. It may identify fetuses with such abnormalities and counsel the parents with appropriate management.

show abstract

“…Third, the analysis of 24 chromosomes was performed on sperm from inv(9)-eligible donors. Previous studies have reported an increased incidence of aneuploidy in spermatozoa of men with inv(9) 4 13 15 and the potential influence of inter-chromosomal effects (ICE). 16 Fourth, we evaluated the semen samples from inv(9)-eligible donors for sperm morphology and functional parameters.…”

Section: Introductionmentioning

confidence: 99%

Exploring the impact of pericentric inversion of chromosome 9 on fertility in sperm donors

Liu,

Zhou,

Huang

et al. 2024

Asian Journal of Andrology

View full text Add to dashboard Cite

Pericentric inversion of chromosome 9 (inv[9]) is a common chromosomal structural variant, but its impact on clinical outcomes remains debated. The screening criteria of sperm banks are rarely mentioned to individuals with inv(9). In this study, we evaluated the fertility of sperm donors with inv(9) who met eligibility criteria for sperm banks (inv[9]-eligible donors). From March 2004 to May 2022, chromosomal analysis of 16 124 sperm donors at CITIC-Xiangya Human Sperm Bank in Hunan Province (Changsha, China) found that 251 (1.6%) had chromosome variations, with inv(9) being the most prevalent at 1.1%. All 169 inv(9)-eligible donors were contacted to collect fertility outcome data, along with 206 eligible donors without inv(9) as controls. In addition, semen samples from inv(9)-eligible donors and eligible donors underwent assessments of sperm fluorescence in situ hybridization (FISH), mitochondrial membrane potential, DNA fragmentation index, acrosome integrity, reactive oxygen species (ROS), and sperm morphology. Results showed that inv(9) did not significantly increase reproductive risks overall. Despite detecting ROS level differences, the clinical impact may be insignificant. This study provides new data on the inv(9) population that can serve as a valuable reference for decision-making by sperm banks as well as for genetic counseling and clinical guidance for individuals carrying inv(9) variant.

show abstract

Successful Live Twin Birth through IVF/ICSI from a Couple with an Infertile Father with Pericentric Inversion of Chromosome 9 (p12q13): A Case with a High Aneuploidy Rate

Cited by 3 publications

References 15 publications

Prevalence And Possible Effects of Pericentric Inversion of Chromosome 9 on Reproductive Failure in A Human Population of Northeast Bosnia and Herzegovina: A 10-year Retrospective Study

Prevalence And Possible Effects of Pericentric Inversion of Chromosome 9 on Reproductive Failure in A Human Population of Northeast Bosnia and Herzegovina: A 10-year Retrospective Study

Pericentric Inversion of Chromosome 9 in Twins With Cyclopia: A Rare Entity

Exploring the impact of pericentric inversion of chromosome 9 on fertility in sperm donors

Contact Info

Product

Resources

About