The analysis of chromosomal abnormalities in patients with recurrent pregnancy loss, focusing on the prognosis of patients with inversion of chromosome (9)

Nonaka, Takamasa; Takahashi, Makiko; Nonaka, Chika; Enomoto, Takayuki; Takakuwa, Koichi

doi:10.1002/rmb2.12281

Cited by 8 publications

(5 citation statements)

References 15 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…However, some chromosomal inversions such as inversion 9 have not been associated with any health problem or RPL 16 . 1qh+, 9qh+, 16qh+,13ps+, 13pstk+ and 22ps+ considered as normal chromosome variants are benign chromosome variants which are not associated with any health problem.…”

Section: Resultsmentioning

confidence: 99%

The Role of Chromosome Analysis in Patients with Recurrent Pregnancy Loss

Balta¹,

Erdoğan²,

Kiraz³

et al. 2020

Ahi Evran Medical Journal

View full text Add to dashboard Cite

İki ya da daha fazla klinik olarak tanımlanmış gebeliğin kaybına tekrarlayan gebelik kaybı (TGK) denir. TGK nedenleri arasında kromozom anomalileri; endokrinolojik hastalıklar; otoimmun problemler; uterin anomaliler, trombofilik faktörler yer alır. Bu çalışmada Orta Anadolu'da TGK yaşamış çiftlerin kromozom analizi sonuçları ve bunların TGK ile ilişkisini tartışmayı amaçladık.Araçlar ve Yöntem: İki ve üzerinde düşük yapmış 721 kadın ve 699 eşi erkek toplam 1420 kişi çalışmaya dahil edildi. Kromozom analizi periferal kan lenfositleri kullanılarak standart sitogenetik Giemsa-Tripsin-Giemsa bantlama tekniği kullanılarak yapıldı. Hastaların tüm kromozomları sayısal ve yapısal kromozom anomalileri açısından incelendi.Bulgular: 698 kişide 46,XX, 680 kişide 46,XY olmak üzere toplam 1378 kişide normal kromozom kuruluşu tespit edildi (%97). En sık olarak 4 hastada 46,XX,9qh+(%0.28) ve 3 hastada 46,XY,9qh+(%0.21) olmak üzere toplam 15 hastada normal kromozom varyantları tespit edildi. Bunun yanında 12 hastada dengeli resiprokal translokasyon (%0.8), 4 hastada 45,XX,rob(13;14)(q10;q10) ve 2 hastada 45,XY,rob(13;14)(q10;q10) olmak üzere 6 hastada ise robertsoniyan translokasyon tespit edildi (%0.4).Sonuç: Bu çalışmada TGK' nın ebeveynlerin kromozom analizinden kaynaklanan en önemli sebebi kromozomal translokasyonlardı 18 (%1.2). TGK yaşayan bireylerin yaklaşık %2'sinde resiprokal ya da robertsoniyan translokasyonlar, inversiyonlar, cinsiyet kromozom anomalileri gibi sayısal ve yapısal kromozom anomalileri görülmektedir. Bu hastaların sağlıklı bebek sahibi olmaları için preimplantasyon genetik tanı testleri üreme tıbbı ile uğraşan kadın doğum uzmanı, tıbbı genetik uzmanları ve klinik embriyologlar tarafından hastalara önerilmelidir.

show abstract

Section: Resultsmentioning

confidence: 99%

The Role of Chromosome Analysis in Patients with Recurrent Pregnancy Loss

Balta¹,

Erdoğan²,

Kiraz³

et al. 2020

Ahi Evran Medical Journal

View full text Add to dashboard Cite

show abstract

“…Whereas, Dana et al [22] showed no statistical difference between the rates of the inversion 9 variant in male vs. female carriers with a history of infertility ( p = 0.343). Nonaka et al [23] also showed no statistical difference between the rates of the inversion 9 variant in male vs. female carriers with a history of recurrent pregnancy loss ( p = 0.175). Furthermore, both Dana et al [22] and Kosyakova et al [24] reported no evidence for a correlation between the inversion 9 variant and infertility.…”

Section: Discussionmentioning

confidence: 99%

“…Furthermore, both Dana et al [22] and Kosyakova et al [24] reported no evidence for a correlation between the inversion 9 variant and infertility. Similarly, Nonaka et al [23] studied the pregnancy outcomes in couples with recurrent pregnancy loss where one partner carried an inversion 9 variant and reported that this chromosome finding has no adverse implication on subsequent pregnancies. Karyotyping on villi from products of conception samples from these patients also did not identify any miscarriages with an unbalanced form of the inversion.…”

Section: Discussionmentioning

confidence: 99%

Pericentric inversion (Inv) 9 variant—reproductive risk factor or benign finding?

Merrion

Maisenbacher

2019

J Assist Reprod Genet

View full text Add to dashboard Cite

PurposeTo report the unbalanced chromosome rearrangement rate and overall aneuploidy rate in day 5/6 embryos from a series of patients who underwent in vitro fertilization (IVF) with preimplantation genetic testing for structural rearrangements (PGT-SR) for the pericentric inversion 9 variant, inv(9)(p11q13) or inv(9)(p12q13), with concurrent 24 chromosome preimplantation genetic testing for aneuploidy (PGT-A).MethodsThis was a retrospective cohort analysis. IVF cycles and embryo biopsies were performed by referring clinics. Fifty-two trophectoderm biopsy samples from seven couples were sent to a single lab for PGT-SR for an inversion 9 variant with concurrent 24 chromosome PGT-A using single-nucleotide polymorphism (SNP) microarrays with bioinformatics.ResultsThe unbalanced rearrangement rate for this embryo cohort was 0/52 (0.0%); mean maternal age per embryo was 33.3 years (range 21–39 years). The overall euploid rate was 61.5% and aneuploidy rate was 38.5%.ConclusionsChromosome 9 pericentric inversions did not result in unbalanced structural rearrangements in day 5/6 embryo samples, supporting that this population variant is not associated with increased reproductive risks.

show abstract

“…CIN can lead also to infertility affecting the mitotic self-renewing cells from the germ line, that ultimately give rise the gametes. One example is the inversion of chromosome 9 in human, present in 2.6% of the population and it is associated to recurrent pregnancy loss [197].…”

Section: Fertilitymentioning

confidence: 99%

Chromosomal Instability in Genome Evolution: From Cancer to Macroevolution

Comaills¹,

Castellano‐Pozo²

2023

Preprint

View full text Add to dashboard Cite

The integrity of the genome is crucial for the survival of all living organisms. However, genomes need to adapt to survive certain pressures and for this propose use several mechanisms to diversify. Chromosomal instability (CIN) is one of the main mechanism leading to the creation of genomic heterogeneity by altering the number of chromosomes as well as changing their structures. In this review we will discuss the different chromosomal patterns and changes observed in speciation, in evolutional biology as well as during tumor progression. By nature, human genome shows induction of diversity during gametogenesis but as well during tumorigenesis that can conclude in drastic changes such as whole genome doubling to more discrete changes as indels as well as the recent discovered complex chromosomal rearrangement chromothripsis. More importantly, changes observed during speciation are strikingly similar to the genomic evolution observed during tumor progression and resistance to therapy. The different origins of CIN will be treated as the importance of double strand breaks (DSB) or the consequences of micronuclei. We will also explain the mechanisms behind the controlled DSBs and recombination of homologous chromosomes observed during meiosis, to explain how errors lead to similar pattern observed during tumorigenesis. Then, we will also list several diseases associated to CIN resulting in fertility issue, miscarriage, genetic rare diseases and cancer. Understanding better chromosomal instability as a whole is primordial for the understanding of mechanisms leading to tumor progression.

show abstract

The analysis of chromosomal abnormalities in patients with recurrent pregnancy loss, focusing on the prognosis of patients with inversion of chromosome (9)

Cited by 8 publications

References 15 publications

The Role of Chromosome Analysis in Patients with Recurrent Pregnancy Loss

The Role of Chromosome Analysis in Patients with Recurrent Pregnancy Loss

Pericentric inversion (Inv) 9 variant—reproductive risk factor or benign finding?

Chromosomal Instability in Genome Evolution: From Cancer to Macroevolution

Contact Info

Product

Resources

About