Abstract
PurposeThis study aimed to investigate the effect of the detail type of chromosomal polymorphisms (1/9/16qh+/−, D/G group polymorphisms, and inv(9)) on the IVF-ET outcomes.MethodsA total of 1335 infertile couples undergoing IVF/ICSI were enrolled and comprehensively analyzed the correlation between three detail types of chromosomal polymorphisms (1/9/16qh+/−, D/G group polymorphisms, and inv(9)) and the outcome of IVF/ICSI embryo transfer. The fertilized rate, cleaved embryo rate, good-quality embryo rate, clinical pregnancy rate, implantation rate, and early stage miscarriage rate were compared between the chromosomal polymorphisms groups and the control group.ResultsBoth the inv(9) and D/G group chromosomal polymorphisms related to female infertility significantly lead to a lower 2PN cleavage rate (86.44% vs. 97.58% and 90.67% vs. 97.58%, respectively, P < 0.05) undergoing IVF insemination, the inv(9) adversely increasing the early miscarriage rate, either undergoing IVF (21.4% vs. 3.0%, P < 0.05) or ICSI (50.0% vs. 2.0%, P < 0.05) insemination, female carriers (23.08% vs. 2.87%, P < 0.05) or male carriers (44.44% vs. 2.87%, P < 0.05). For D/G groups, ICSI insemination may increase the implantation rate (44.8% vs. 23.69%, P < 0.05) and clinical pregnancy rate (78.6% vs. 40.65%, P < 0.05). 1/9/16qh+/− had no apparent adverse effect on the patient’s clinical outcomes.ConclusionsOur study suggests that chromosome karyotype analysis is necessary for IVF patients in clinical practice; we should afford individual genetic counseling suggestion according to the polymorphism types.
Highlights
Chromosomal polymorphisms mainly refer to variants in the chromosomal heterochromatin region
To determine whether the insemination methods affect the clinical outcomes of chromosomal polymorphisms patients, we studied the embryological and clinical outcomes of chromosomal polymorphism carriers undergoing IVF or Intracytoplasmic sperm injection (ICSI), respectively, as shown in Table 3 and Table 4
When the analyses were limited to patients undergoing IVF insemination, as shown in Table 3, the results indicated that there were no significant differences in the fertilization rate, 1PN fertilization rate, 2 pronuclei (2PN) fertilization rate, multi-PN
Summary
Chromosomal polymorphisms mainly refer to variants in the chromosomal heterochromatin region. Increases or decreases in the lengths of the heterochromatic regions on the long arms of these. An increase or decrease in the length of the short arm of acrocentric (acro) D-genome and G-genome (D/G) group chromosomes is designated p±, while an increase or decrease in the length of short arm satellites and stalks is designated ps+/− and pstk+/−, respectively [4, 5]. Pericentric inversion of chromosome 9—regularly referred to as inversion 9 (inv(9))—is one of the most common variations in the human karyotype; the estimated frequency varies from 1 to 4% in extensive epidemiological studies [6,7,8,9,10,11]. The latest version of the International System for Cytogenetic Nomenclature (ISCN) [12] refers to inv(9) (p12q13) as a
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