S. Ghadir

Idiopathic recurrent miscarriage is caused mostly by aneuploid embryos.

OBJECTIVE To determine any beneficial effects of preimplantation genetic screening (PGS) of all chromosomes by array comparative genomic hybridization (aCGH), with either day 3 or blastocyst biopsy, for idiopathic recurrent pregnancy loss (RPL) patients compared with their expected loss rate. DESIGN Case series report. SETTING Multiple fertility centers. PATIENT(S) A total of 287 cycles of couples with idiopathic RPL (defined as two or more losses). INTERVENTION(S) PGS was done with day 3 biopsy (n = 193) or blastocyst biopsy (n = 94), followed by analysis with aCGH. MAIN OUTCOME MEASURE(S) Spontaneous abortion rate, euploidy rate. RESULT(S) A total of 2,282 embryos were analyzed, of which 35% were euploid and 60% were aneuploid. There were 181 embryo transfer cycles, of which 100 (55%) became pregnant with an implantation rate of 45% (136 sacs/299 replaced embryos) and 94 pregnancies (92%) were ongoing (past second trimester) or delivered. The miscarriage rate was found to be only 6.9% (7/102), compared with the expected rate of 33.5% in an RPL control population and 23.7% in an infertile control population. CONCLUSION(S) Current PGS results with aCGH indicate a significant decrease in the miscarriage rate of idiopathic RPL patients and high pregnancy rates. Furthermore, this suggests that idiopathic recurrent miscarriage is mostly caused by chromosomal abnormalities in embryos.

Evaluating genetic ancestry and self-reported ethnicity in the context of carrier screening

BackgroundCurrent professional society guidelines recommend genetic carrier screening be offered on the basis of ethnicity, or when using expanded carrier screening panels, they recommend to compute residual risk based on ethnicity. We investigated the reliability of self-reported ethnicity in 9138 subjects referred to carrier screening. Self-reported ethnicity gathered from test requisition forms and during post-test genetic counseling, and genetic ancestry predicted by a statistical model, were compared for concordance.ResultsWe identified several discrepancies between the two sources of self-reported ethnicity and genetic ancestry. Only 30.3% of individuals who indicated Mediterranean ancestry during consultation self-reported this on requisition forms. Additionally, the proportion of individuals who reported Southeast Asian but were estimated to have a different genetic ancestry was found to depend on the source of self-report. Finally, individuals who reported Latin American demonstrated a high degree of ancestral admixture. As a result, carrier rates and residual risks provided for patient decision-making are impacted if using self-reported ethnicity.ConclusionOur analysis highlights the unreliability of ethnicity classification based on patient self-reports. We recommend the routine use of pan-ethnic carrier screening panels in reproductive medicine. Furthermore, the use of an ancestry model would allow better estimation of carrier rates and residual risks.

The Day of Blastocyst Vitrification Significantly Effects Implantation in Subsequent Frozen Embryo Transfers

Icsi vs. Insemination for Trophectoderm Biopsy PGS Cycles: Is There Any Difference in Chromosomal Abnormalities or Pregnancy Rates? J. Barritt, PhD, D. L. Hill, PhD, H. Danzer, MD, M. Surrey, MD, S. Ghadir, MD, W. Chang, MD, S. Munne, PhD. ART Reproductive Center, 450 N. Roxbury Dr, Ste 520, Beverly Hills, CA 90210; Southern California Reproductive Center, 450 N. Roxbury Dr, Ste 500, Beverly Hills, CA 90210; Reprogenetics, 3 Regent Street, Suite 301, Livingston, NJ 07039.

The proximity of warmed embryo transfer of “intentional freeze” embryos from vitrification impacts implantation rates

OBJECTIVE: There is mounting evidence that performing blastocyst transfer at least one menstrual cycle from that in which the patient’s eggs were retrieved improves implantation, presumably due to a more receptive uterine environment. Doing this requires vitrification of blastocysts, warming and transferring them in a subsequent cycle that is 1, 2 or more menstrual cycles from that in which the embryos were created. We wanted to exam if implantation rates were affected by this proximity. DESIGN: Retrospective data analysis from a private laboratory for assisted reproductive technology. MATERIALS AND METHODS: From 2011 to 2013, 216 transfers (excluding donors and surrogates) did not have a fresh blastocyst transfer, electing to have all embryos intentionally vitrified. In 104 of these transfers the patient also had PGD by array comparative genomic hybridization (aCGH). Transfers of warmed blastocysts were performed anywhere from within 40 days of the vitrification cycle, 41-70 days or>70 days and beyond, representing endometrial lining recreation from 1–3 cycles. Based on the idea that it would take somewhere 70 days post-vitrification. RESULTS: Non-PGD defined embryo transfers occurring 70 day group (P 70 day group. Noticeably 11/112 (10%) of the cases in the ‘‘no PGD’’ group were >37, whereas 61/104 (59%) of the ‘‘PGD’’ group were >37. This outcome is therefore reflective of a elimination of the ‘‘age effect’’ in patients 37–41 years old when aCGH-defined blastocysts are used for transfer. CONCLUSION: Our data demonstrates that performing a warmed embryo transfer soon after the vitrification cycle does not allow themost optimal uterine receptivity. Most dramatically demonstrated in warmed cycles after PGD in which at least 2 endometrial lining recreations increased pregnancy rates so significantly that the ‘‘age effect’’ in older patients was overcome by doing intentional freezes with PGD. We strongly recommend not performing warmed ETs of blastocysts <40 days from vitrification.

‘Cook®ing-in’ new MINC incubators: they really can be installed, pass quality control testing and be ready for patient embryos in only 7 days

Objective: “Burn-in” of new incubators is normally performed over as long a period of time as possible. Mouse embryo studies have repeatedly demonstrated that incubators need to “off-gas” residual volatiles from various components before they will pass testing and be cleared for clinical use. We evaluate how quickly the COOK mini-incubator (MINC) can be installed, tested and cleared for clinical use.

What patients can expect for percentage of embryos biopsied and normal embryos available for fresh blastocyst transfer when undergoing trophectoderm biopsy with 24-chromosome genetic analysis

Jason Barritt, PhD, Santiago Munne, PhD, Mark Surrey, MD, Hal Danzer, MD, Shahin Ghadir, MD and David Hill, PhD. ART Reproductive Center, 450 North Roxbury Drive Suite 520 Beverly Hills, California, United States, 90210; Reprogenetics, 3 Regent Street Suite 301 Livingston, New Jersey, United States, 07039 and Southern California Reproductive Center, 450 North Roxbury Drive Suite 500 Beverly Hills, California, United States, 90210.