Outcomes of in vitro fertilization with preimplantation genetic diagnosis: an analysis of the United States Assisted Reproductive Technology Surveillance Data, 2011–2012

Abstract

Objective To assess the characteristics of IVF cycles for which preimplantation genetic diagnosis (PGD) was used and to evaluate indications for PGD and treatment outcomes associated with this procedure as compared with cycles without PGD with the data from the U.S. National ART Surveillance System. Design Retrospective cohort study. Setting None. Patient(s) Fresh autologous cycles that involved transfer of at least one embryo at blastocyst when available. Intervention(s) None. Main Outcome Measure(s) PGD indications and age-specific reproductive outcomes. Result(s) There were a total of 97,069 non-PGD cycles and 9,833 PGD cycles: 55.6% were performed for aneuploidy screening (PGD Aneuploidy), 29.1% for other reasons (PGD Other), and 15.3% for genetic testing (PGD Genetic). In comparison to non-PGD cycles, PGD Aneuploidy cycles showed a decreased odds of miscarriage among women 35–37 years (adjusted odds ratio [aOR] 0.62; 95% CI, 0.45–0.87) and women >37 years (aOR 0.55; 95% CI, 0.43–0.70); and an increased odds of clinical pregnancy (aOR 1.18; 95% CI, 1.05–1.34), live-birth delivery (aOR 1.43; 95% CI, 1.26–1.62), and multiple-birth delivery (aOR 1.98; 95% CI, 1.52–2.57) among women >37 years. Conclusion(s) Aneuploidy screening was the most common indication for PGD. Use of PGD was not observed to be associated with an increased odds of clinical pregnancy or live birth for women <35 years. PGD for aneuploidy was associated with a decreased odds of miscarriage for women >35 years, but an increased odds of a live-birth and a multiple live-birth delivery among women >37 years.

The comparison of the performance of four whole genome amplification kits on ion proton platform in copy number variation detection

“…Different projects focused on different variants. For example, preimplantation genetic screen currently focused on CNV detection [25][26][27], inheritable diseases studies were mainly interested in SNP calling [28][29][30][31], and cancer-related studies might concern CNVs, SNPs, and other variants [32,33]. There was no best method for all projects, but there was always a more appropriate one for a certain project.…”

First successful trial of preimplantation genetic diagnosis for pantothenate kinase-associated neurodegeneration

“…PGD results are usually reported as predictions, such as Blikely affected^or Blikely disease free.^It is also common to report Bfailed amplification^or Binconclusive,^which the couples must also understand before signing the informed consent for PGD [5][6][7]. In addition, couples will need to understand that the successful pregnancy rate after the IVF cycle is approximately 40-60%, if the embryos are screened for 24-chromosome aneuploidy [10][11][12]. A point that couples have to understand is that the chance of having a baby affected by other congenital malformations following IVF treatment is slightly increased, compared with natural conception [13,14].…”

Discrepant diagnosis rate of array comparative genomic hybridization in thawed euploid blastocysts

“…As prior studies suggest, PGS confers many advantages, especially when trophectoderm (TE) biopsy is used in combination with single thawed euploid embryo transfer [1,3,6]. However, couples must also understand potential risks of the process.…”

“…Although aCGH has been shown to be a highly sensitive method of CCS [1,[5][6][7], both technical and biologic errors still exist. aCGH utilizes PCR technology, which lends specimens susceptible to several known sources of error including failure of amplification of one of the parental alleles and obscured diagnosis by the presence of haploid cells.…”

“…Couples at increased risk of aneuploidy may benefit from in vitro fertilization (IVF) with preimplantation genetic screening (PGS) [1]. This technology has led to higher implantation and live birth rates with lower miscarriage rates [2][3][4][5].…”