Prenatal diagnosis of pericentric inversion homozygosity for chromosome 9

Abstract Purpose To 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). Methods This 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. Results The 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%. Conclusions Chromosome 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.

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Pericentric inversion of chromosome 9[inv(9)(p12q13)]: Its association with genetic diseases

Indian Journal of Human Genetics ◽

10.4103/0971-6866.29856 ◽

2006 ◽

Vol 12 (3) ◽

pp. 129 ◽

Cited By ~ 11

Author(s):

BabuV Rao ◽

Lily Kerketta ◽

Seema Korgaonkar ◽

Kanjaksha Ghosh

Keyword(s):

Pericentric Inversion ◽

Genetic Diseases ◽

Chromosome 9

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Association of pericentric inversion of chromosome 9 and reproductive failure in ten unrelated families

Human Genetics ◽

10.1007/bf00279187 ◽

1975 ◽

Vol 30 (3) ◽

pp. 217-224 ◽

Cited By ~ 63

Author(s):

J. Bou� ◽

J. L. Taillemite ◽

P. Hazael-Massieux ◽

C. L�onard ◽

A. Bou�

Keyword(s):

Pericentric Inversion ◽

Reproductive Failure ◽

Chromosome 9

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Analysis of the clinical features of pericentric inversion of chromosome 9

Journal of International Medical Research ◽

10.1177/0300060520957820 ◽

2020 ◽

Vol 48 (9) ◽

pp. 030006052095782

Author(s):

Xiaolei Xie ◽

Fuguang Li ◽

Weihe Tan ◽

Jiang Tang

Keyword(s):

Amniotic Fluid ◽

Clinical Features ◽

Pregnancy Outcomes ◽

Pericentric Inversion ◽

Adverse Pregnancy Outcome ◽

Normal Population ◽

Chorionic Villus ◽

Clinical Impact ◽

Chromosome 9 ◽

Adverse Pregnancy

Objective The pericentric inversion of chromosome 9 (inv9) is one of the most common structural balanced chromosomal variations, and it is considered to be a normal population variant. The aim of this study was to re-evaluate the clinical impact of patients with inv9. Methods We studied the karyotypes from 4853 patients at a single center and retrospectively reviewed their clinical data. Results There were 67 inv9 patients among 2988 adults, and 62 of them showed different clinical features, including male and female infertility, oligoasthenozoospermia, and azoospermia. Thirty-one cases of inv9 were found in 1865 fetuses, including two cases in chorionic villus (6.90%) and 29 in amniotic fluid (1.67%), but there were no cases in umbilical cord blood. The rates of fetal phenotype abnormal and adverse pregnancy outcome with inv9 in the chorionic villus were 100.00% (2/2), while only 17.24% (5/29) in the amniotic fluid showed abnormalities, among which 60.00% (3/5) had adverse pregnancy outcomes. Conclusions Although there is no clear evidence that inv9 is pathogenic, the genetic counseling on inv9 in early pregnancy and adults needs to be given more attention.

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