preimplantation genetic screening
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2021 ◽  
Xiaoling Wu ◽  
Huixia Zhang ◽  
Wenbin Niu ◽  
Jiawei Xu ◽  
Haixia Jin ◽  

Abstract Background: Serum antimÜllerian hormone (AMH) level has been reported to be associated with pregnancy rates after assisted reproduction. It is unclear whether AMH levels affect number of euploid blastocysts and cumulative live birth rates (CLBR). The aim of this study was to investigate whether AMH levels are associated with cumulative live birth rates (CLBR) through their relationship with oocyte quality.Methods: A total of 975 consecutive infertile women undergoing 1825 preimplantation genetic screening (PGS) analysis. Serum AMH levels were measured by AMH Gen II assay kit within the 3 months before Controlled Ovarian Hyperstimulation. Embryos were cultured and biopsied at the blastocyst stage. Results: Among 975 women undergoing PGS analysis. Age, serum AMH and number of oocytes retrieved were significantly and independently related to number of euploid blastocysts available for patients to transfer (P < .001). in patients displaying superior serum AMH levels, cumulative live birth rates (CLBR) were significantly increased independently from age and number of oocytes retrieved (P < .001), and this group with lower AMH levels also showed increased pregnancy loss rates.Conclusions: Serum AMH levels are positively age-independent associated with cumulative live birth rates after all viable embryos are transferred from the first ovarian stimulation cycle. And embryonic euploidy outcome was superior in patients with higher AMH levels. These present findings confirm that serum AMH levels might reflect not only ovarian reserve but also qualitative aspects of oocytes, which will effect the clinical application of PGS.

2021 ◽  
Kaylin O’Brien

Through cellular biopsy of a developing embryo, genetic testing can be performed as part of the embryo selection phase of an in vitro fertilization (IVF) cycle. Preimplantation genetic screening (PGS) and preimplantation genetic diagnosis (PGD) allow embryos to be tested for genetic conditions on a chromosome and gene level, respectively, prior to implantation in the uterus and prior to pregnancy. Included in this review are indications for PGS and PGD, the biopsy and diagnostic methods that are most frequently utilized, advances in recent non-invasive technologies, and potential impacts that PGS/PGD and IVF may have on developing embryos. This review contains 5 figures, 1 table, and 53 references.  Keywords: Preimplantation genetic diagnosis, preimplantation genetic screening, blastocyst biopsy, blastomere biopsy, advances in PGS/PGD, indications for PGS/PGD, non-invasive embryo biopsy, infertility

BMJ Open ◽  
2020 ◽  
Vol 10 (10) ◽  
pp. e036252
Caixia Lei ◽  
Yilun Sui ◽  
Jiangfeng Ye ◽  
Yao Lu ◽  
Ji Xi ◽  

IntroductionPregnancy loss (PL) is an adverse life event, and there is no proven effective treatment for recurrent PL (RPL). Preimplantation genetic screening (PGS) can be performed to reduce the risks of PL; however, there is still no solid scientific evidence that PGS improves outcomes for couples experiencing RPL. Comprehensive chromosome screening (PGS2.0) has become a routine practice in in vitro fertilisation (IVF) clinics. Previous studies based on PGS1.0 with a focus on RPL couples where the female is of advanced maternal age have reported contradictory results. Hence, a multicentre randomised trial is needed to provide evidence for the clinical benefits of PGS2.0 treatment for RPL couples.Methods and analysisOverall, 268 RPL couples undergoing IVF cycles will be enrolled. Couples will be randomised according to a unique grouping number generated by a random digital software into (1) PGS2.0 group and (2) non-PGS (conventional embryo morphology evaluation) group. This study aims to investigate whether the live birth rate (LBR) per initiated cycle after PGS2.0 is superior to the LBR per initiated cycle after conventional embryo evaluation (non-PGS group). Live birth will be defined as a live baby born after a gestation period of >28 weeks, with a birth weight of more than 1000 g. A multivariate logistic regression model will be used to adjust for confounding factors.Ethics and disseminationEthical approval has been granted by the Ethics Committee of Obstetrics and Gynecology Hospital, Fudan University and the participating hospitals. Written informed consent will be obtained from each couple before any study procedure is performed. Data from this study will be stored in the Research Electronic Data Capture. The results of this trial will be presented and published via peer-reviewed publications and presentations at international conferences.Trial registration numberNCT03214185; Pre-results.

2020 ◽  
Vol 5 (4) ◽  
pp. 187-204
Zohreh Khezripour ◽  
Seyedeh Fatemeh Vasegh Rahimparvar ◽  
Azam Rahmani ◽  
Mohammad Reza Nateghi ◽  

2020 ◽  
Vol 71 (1) ◽  
Walter Osorio-Ramírez ◽  
Juan Luis Giraldo-Moreno ◽  
Diana Patricia Gómez-Cortés ◽  
David Olive ◽  
John Fidel Cano-Franco ◽  

Objetivos: reportar el caso de una paciente con síndrome de Turner en mosaico, a quien se le realizó un tratamiento de reproducción asistida con análisis genético preimplantatorio para aneuploidias, logrando el nacimiento de una niña sana con cariotipo normal, y realizar una revisión de la literatura sobre la utilidad del diagnóstico genético preimplantatorio en las mujeres con síndrome de Turner. Materiales y métodos: se presenta el caso de una mujer de 27 años, con diagnóstico de síndrome de Turner en mosaico y con alteración secundaria en la reserva ovárica, atendida en centro de referencia para el manejo de infertilidad en Medellín, Colombia, a quien se le realizó un tratamiento de fertilización in vitro con análisis genético preimplantatorio para prevenir la transmisión del síndrome de Turner a su descendencia. Se realizó una búsqueda de la literatura en las bases de datos Medline vía PubMed, Clinical Key, OVID, Embase, Lilacs, SciELO y Oxford Journals, con los siguientes términos: “Turner Syndrome”, “Mosaic Turner”, “Preimplantation Genetic Screening”, “Preimplantation Genetic Testing”, “Preimplantation Genetic Diagnosis”, “Pregnancy”, “Successful pregnancy”. Como criterios de inclusión se consideraron artículos tipo series y reportes de casos, cohortes y artículos de revisión desde enero de 1980 hasta junio de 2017, que incluyeran mujeres con síndrome de Turner embarazadas por medio de técnicas de fertilización in vitro, con sus propios óvulos, y que hubiesen sido sometidas a biopsia embrionaria para diagnóstico genético preimplantatorio. La búsqueda se limitó a los idiomas español e inglés. Resultados: un estudio cumplió con los criterios de inclusión. Tanto en este reporte como en nuestro caso, las pacientes con síndrome de Turner en mosaico se sometieron a varios ciclos de inyección intracitoplasmática de espermatozoides (ICSI) con sus propios óvulos, luego se realizó biopsia embrionaria para análisis genético preimplantatorio utilizando diferentes técnicas. En ambos casos se logró la transferencia al útero de embriones euploides con el posterior nacimiento de niñas sanas con cariotipo normal. Conclusión: Las pacientes con ST mosaico podrían beneficiarse de la biopsia embrionaria y análisis genético preimplantatorio para prevenir la transmisión del defecto genético a su descendencia.

2020 ◽  
Vol 2020 ◽  
pp. 1-4
Nicole A. Van De Velde ◽  
Charalampos Chatzicharalampous ◽  
Awoniyi O. Awonuga

Objective. To describe a case of successful oocyte retrieval, fertilization and clinical pregnancy despite very low β-hCG level, twelve hours after ovulation trigger. Design. Case report. Setting. Academic medical center. Patient. A 38-year-old patient inadvertently administered 2,000 IU hCG for final oocyte maturation; serum hCG twelve hours later was 16 IU/L. Interventions. Effort to obtain and administer a booster dose of hCG over the next twenty-seven hours failed. Main Outcome. Successful oocyte retrieval. Results. Fourteen oocytes were retrieved of which twelve were in metaphase II and nine fertilized after intracytoplasmic sperm injection (ICSI). Of these, eight embryos survived to day 5 and were subjected to preimplantation genetic screening (PGS) by comparative genomic hybridization (CGH). Results were available the next day, three of the embryos were euploid and one was transferred on day 6. Pregnancy was confirmed twelve days later and currently the patient has an ongoing singleton intrauterine pregnancy. Conclusion. Reproductive Endocrinology and Infertility specialists should be aware that final oocyte maturation could occur following injection of a lower dose of hCG with excellent fertilization rate and embryo development.

2020 ◽  
Vol 3 (1) ◽  
pp. 1-6
Deivid Donizete Borges ◽  
Mauricio Costa Nunes Ligabo Junior ◽  
Maria de Fatima Maklouf Amorim Ruiz ◽  
Thais Aparecida Oliveira Rodrigues ◽  
Thomas de Aquino Paulo Filho ◽  

2019 ◽  
Vol 17 (1) ◽  
Ni-Chin Tsai ◽  
Yu-Ting Su ◽  
Yu-Ju Lin ◽  
Hsin-Ju Chiang ◽  
Fu-Jen Huang ◽  

Abstract Background Morulas with delayed growth sometimes coexist with blastocysts. There is still limited evidence regarding the optimal disposal of surplus morulas. With the advancement of vitrification, the freezing-thawing technique has been widely applied to zygotes with 2 pronuclei, as well as embryos at the cleavage and blastocyst stages. The freezing of morulas, however, has rarely been discussed. The purpose of this study was to investigate whether these poor-quality and slow-growing morulas are worthy of cryopreservation. Methods This is a retrospective, observational, proof-of-concept study. A total of 1033 day 5/6 surplus morulas were cryopreserved from January 2015 to December 2018. The study included 167 women undergoing 180 frozen embryo transfer cycles. After the morulas underwent freezing-thawing procedures, their development was monitored for an additional day. The primary outcome was the blastocyst formation rate. Secondary outcomes were clinical pregnancy rate, live birth rate and abortion rate. Results A total of 347 surplus morulas were thawed. All studied morulas showed delayed compaction (day 5, n = 329; day 6, n = 18) and were graded as having low (M1, n = 54), medium (M2, n = 138) or high (M3, n = 155) fragmentation. The post-thaw survival rate was 79.3%. After 1 day in extended culture, the blastocyst formation rate was 66.6%, and the top-quality blastocyst formation rate was 23.6%. The day 5 morulas graded as M1, M2, and M3 had blastocyst formation rates of 88.9, 74.0, and 52.8% (p < 0.001), respectively, and the top-quality blastocyst formation rates were 64.8, 25.2, and 9.0% (p < 0.001), respectively. The clinical pregnancy rate was 33.6%. Conclusions The post-thaw blastocyst formation rate was satisfactory, with approximately one-half of heavily fragmented morulas (M3) developing into blastocysts. Most of the poor-quality morulas were worth to freeze, with the reasonable goal of obtaining pregnancy and live birth. This alternative strategy may be a feasible approach for coping with poor-quality surplus morulas in non-PGS (preimplantation genetic screening) cycles.

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