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Polygenic embryo screening: four clinical considerations warrant further attention
S Pereira, S Carmi, G Altarescu, J Austin, D Barlevy, A Hershlag, E Juengst, K Kostick-Quenet, E Kovanci, R B Lathi, M Mukherjee, I Van den Veyver, O Zuk, G Lázaro-Muñoz, T Lencz
doi : 10.1093/humrep/deac110
Human Reproduction, Volume 37, Issue 7, July 2022, Pages 1375–1378
Recent advances in developing polygenic scores have made it possible to screen embryos for common, complex conditions and traits. Polygenic embryo screening (PES) is currently offered commercially, and though there has been much recent media and academic coverage, reproductive specialists’ points of view have not yet been prominent in these discussions.
Pro: Fresh versus frozen embryo transfer. Is frozen embryo transfer the future?
Christos A Venetis
doi : 10.1093/humrep/deac126
Human Reproduction, Volume 37, Issue 7, July 2022, Pages 1379–1387
Embryo cryopreservation has been an integral part of ART for close to 40 years and vitrification has boosted overall ART efficacy and safety. Recently, there has been a vivid scientific discussion on whether elective cryopreservation of all embryos (freeze-all) should be pursued for most patients, with a fresh embryo transfer taking place only in selected cases.
Con: freeze-all for all? One size does not fit all
Lan N Vuong
doi : 10.1093/humrep/deac103
Human Reproduction, Volume 37, Issue 7, July 2022, Pages 1388–1393
IVF has traditionally involved transfer of fresh embryos. However, a ‘freeze-all’ strategy where all embryos are cryopreserved for transfer in subsequent, unstimulated cycles has emerged as an alternative approach.
Bi-allelic variants in KCNU1 cause impaired acrosome reactions and male infertility
Ruyi Liu, Zheng Yan, Yong Fan, Ronggui Qu, Biaobang Chen, Bin Li, Ling Wu, Haibo Wu, Jian Mu, Lin Zhao, Wenjing Wang, Jie Dong, Yang Zeng, Qiaoli Li, Lei Wang, Qing Sang, Zhihua Zhang, Yanping Kuang
doi : 10.1093/humrep/deac102
Human Reproduction, Volume 37, Issue 7, July 2022, Pages 1394–1405
Until now, the underlying genetic determinants for male affected individuals exhibiting normal sperm quantity and morphology have been largely unknown. Potassium/calcium-activated channel subfamily U member 1 (KCNU1) is a sperm-specific potassium channel. The Kcnu1 null mutation in male mice causes infertility due to the impaired progressive motility and AR.
Microfluidic preparation of spermatozoa for ICSI produces similar embryo quality to density-gradient centrifugation: a pragmatic, randomized controlled trial
Molly M Quinn, Salustiano Ribeiro, Flor Juarez-Hernandez, Rhodel K Simbulan, Liza Jalalian, Marcelle I Cedars, Mitchell P Rosen
doi : 10.1093/humrep/deac099
Human Reproduction, Volume 37, Issue 7, July 2022, Pages 1406–1413
Microfluidic sperm preparation can isolate spermatozoa for clinical use with minimal DNA fragmentation but with unclear impact on clinical outcomes.
Sperm count is increased by diet-induced weight loss and maintained by exercise or GLP-1 analogue treatment: a randomized controlled trial
Emil Andersen, Christian R Juhl, Emma T Kjøller, Julie R Lundgren, Charlotte Janus, Yasmin Dehestani, Marte Saupstad, Lars R Ingerslev, Olivia M Duun, Simon B K Jensen, Jens J Holst, Bente M Stallknecht, Sten Madsbad, Signe S Torekov, Romain Barrès
doi : 10.1093/humrep/deac096
Human Reproduction, Volume 37, Issue 7, July 2022, Pages 1414–1422
Obesity is associated with impaired semen quality. Weight loss improves metabolic health in obesity, but there is a lack of knowledge on the acute and long-term effects of weight loss on semen parameters.
Na+/K+ ATPase α1 and β3 subunits are localized to the basolateral membrane of trophectoderm cells in human blastocysts
T Hirakawa, M Goto, K Takahashi, T Iwasawa, A Fujishima, K Makino, H Shirasawa, W Sato, T Sato, Y Kumazawa, Y Terada
doi : 10.1093/humrep/deac124
Human Reproduction, Volume 37, Issue 7, July 2022, Pages 1423–1430
In mouse embryos, Na+/K+ ATPase α1 and β1 are expressed in the basolateral membrane of trophectoderm (TE) cells and are believed to be involved in blastocoel formation (cavitation).
Estrogen valerate pretreatment with the antagonist protocol does not increase oocyte retrieval in patients with low ovarian response: a randomized controlled trial
Shunji Zhang, Yi Tang, Xiaojuan Wang, Yurong Zong, Xiaofeng Li, Sufen Cai, Hailan Ma, Hui Guo, Juan Song, Ge Lin, Guangxiu Lu, Fei Gong
doi : 10.1093/humrep/deac081
Human Reproduction, Volume 37, Issue 7, July 2022, Pages 1431–1439
Previous studies showed that patients with a normal ovarian response can obtain better clinical outcomes after pretreatment with estrogen in the antagonist protocol. For patients with advanced age and low ovarian response, it remains unclear if estrogen valerate pretreatment with the antagonist protocol yields more oocytes and improves pregnancy outcomes.
Insights into ovarian response with a fixed low dose FSH stimulation in an IUI programme: the PRORAILS study
Anouk Rutten, Hanne van Ballegooijen, Frank Broekmans, Ben Cohlen, PRORAILS study group
doi : 10.1093/humrep/deac076
Human Reproduction, Volume 37, Issue 7, July 2022, Pages 1440–1450
Ovarian stimulation during IUI treatment could lead to a higher chance of pregnancy, but also a higher incidence of multiple pregnancies, unless strict cancellation criteria are being used.
The effect of hyaluronic acid in embryo transfer media in donor oocyte cycles and autologous oocyte cycles: a systematic review and meta-analysis
Devorah Heymann, Liat Vidal, Zeev Shoham, Elena Kostova, Marian Showell, Yuval Or
doi : 10.1093/humrep/deac097
Human Reproduction, Volume 37, Issue 7, July 2022, Pages 1451–1469
There is a known clinical benefit of HA addition to embryo transfer media but it is not known if HA affects donor and autologous oocyte cycles differently.
Presence of adenomyosis at MRI reduces live birth rates in ART cycles for endometriosis
M Bourdon, P Santulli, C Bordonne, A E Millisher, L Maitrot-Mantelet, C Maignien, L Marcellin, L Melka, C Chapron
doi : 10.1093/humrep/deac083
Human Reproduction, Volume 37, Issue 7, July 2022, Pages 1470–1479
Adenomyosis is a common gynecological disease. The development of imaging techniques for the diagnosis has led to several adenomyosis phenotypes being described, and fertility issues appear to vary according to the characteristics of the lesions.
Influence of breast cancer prognostic factors on oocyte in vitro maturation outcomes performed for urgent fertility preservation
Jade Raad, Charlotte Sonigo, Alexandra Benoit, Isabelle Cedrin-Durnerin, Christophe Sifer, Nathalie Sermondade, Michaël Grynberg
doi : 10.1093/humrep/deac109
Human Reproduction, Volume 37, Issue 7, July 2022, Pages 1480–1488
SBR grade, triple-negative status and overexpression of HER2, as well as a high Ki67 proliferation index are all established prognostic factors for BC, influencing patients’ therapeutic management.
Persistent activation of signal transducer and activator of transcription 3 via interleukin-6 trans-signaling is involved in fibrosis of endometriosis
Sachiko Matsuzaki, Jean-Luc Pouly, Michel Canis
doi : 10.1093/humrep/deac098
Human Reproduction, Volume 37, Issue 7, July 2022, Pages 1489–1504
Endometrial and/or endometriotic samples of 60 patients who had histological evidence of deep endometriosis and endometrial samples from 32 healthy fertile women were analyzed.
Stromal cell senescence contributes to impaired endometrial decidualization and defective interaction with trophoblast cells
P I Deryabin, A V Borodkina
doi : 10.1093/humrep/deac112
Human Reproduction, Volume 37, Issue 7, July 2022, Pages 1505–1524
A prolonged and highly disordered pro-inflammatory secretory profile of EnSC, which resembles the senescence-associated secretory phenotype, is associated with implantation failure.
The healthy female microbiome across body sites: effect of hormonal contraceptives and the menstrual cycle
Maria Christine Krog, Luisa W Hugerth, Emma Fransson, Zahra Bashir, Anders Nyboe Andersen, Gabriella Edfeldt, Lars Engstrand, Ina Schuppe-Koistinen, Henriette Svarre Nielsen
doi : 10.1093/humrep/deac094
Human Reproduction, Volume 37, Issue 7, July 2022, Pages 1525–1543
Women with low vaginal levels of Lactobacillus crispatus are at increased risk of pre-term birth, fertility treatment failure, sexually transmitted infections and gynaecological cancers. Little is known about the effect of hormonal fluctuations on other body site’s microbiomes as well as the interplay between them.
Association between an AMH promoter polymorphism and serum AMH levels in PCOS patients
Loes M E Moolhuijsen, Yvonne V Louwers, Anke McLuskey, Linda Broer, Andre G Uitterlinden, Renée M G Verdiesen, Ryan K Sisk, Andrea Dunaif, Joop S E Laven, Jenny A Visser
doi : 10.1093/humrep/deac082
Human Reproduction, Volume 37, Issue 7, July 2022, Pages 1544–1556
Follicle number is positively correlated with serum AMH levels, reflected by elevated AMH levels in women with PCOS. In addition, it is suggested that AMH production per follicle is higher in women with PCOS than in normo-ovulatory women, implying an altered regulation of AMH in PCOS.
Effects of letrozole cotreatment on endocrinology and follicle development in women undergoing ovarian stimulation in an antagonist protocol
Liv C Poulsen, Agnieszka K Warzecha, Nathalie S Bülow, Leif Bungum, Nicholas S Macklon, Claus Yding Andersen, Sven O Skouby
doi : 10.1093/humrep/deac119
Human Reproduction, Volume 37, Issue 7, July 2022, Pages 1557–1571
Letrozole is a third-generation aromatase inhibitor that is well-established as an effective ovulatory agent, while its possible benefits in standard in vitro fertilization protocols are less thoroughly investigated.
Offspring conceived through ART have normal thyroid function in adolescence and as young adults
L A Wijs, D A Doherty, J A Keelan, V Panicker, P Burton, J L Yovich, R J Hart
doi : 10.1093/humrep/deac095
Human Reproduction, Volume 37, Issue 7, July 2022, Pages 1572–1580
Studies to date have reported an increase in subclinical hypothyroidism in offspring conceived after ART. It has been suggested that the increase in maternal estrogen (E2) after fresh embryo transfers could affect thyroid function of the offspring. Suboptimal thyroid function at a young age can cause irreversible damage to the central nervous system, which makes early detection and correct treatment essential.
Sperm epigenetic clock associates with pregnancy outcomes in the general population
J Richard Pilsner, Hachem Saddiki, Brian W Whitcomb, Alexander Suvorov, Germaine M Buck Louis, Sunni L Mumford, Enrique F Schisterman, Oladele A Oluwayiose, Laura B Balzer
doi : 10.1093/humrep/deac084
Human Reproduction, Volume 37, Issue 7, July 2022, Pages 1581–1593
The strong relation between chronological age and DNA methylation profiles has enabled the estimation of biological age as epigenetic ‘clock’ metrics in most somatic tissue. Such clocks in male germ cells are less developed and lack clinical relevance in terms of their utility to predict reproductive outcomes.
Prenatal exposure to airborne polychlorinated biphenyl congeners and male reproductive health
S S Tøttenborg, K S Hougaard, L Deen, E B Pedersen, M Frederiksen, A B B Kofoed, K U Petersen, H W Meyer, N E Ebbehøj, J P E Bonde
doi : 10.1093/humrep/deac079
Human Reproduction, Volume 37, Issue 7, July 2022, Pages 1594–1608
Recent studies have shown LC-PCBs to exhibit endocrine-disrupting properties and increase the risk of cryptorchidism. Although exposure to LC-PCBs in indoor air is relatively common, the long-term impact of prenatal exposure on male reproductive health has not yet been investigated.
Infertility treatment associated with childhood asthma and atopy
Kristen J Polinski, Danielle R Stevens, Pauline Mendola, Tzu-Chun Lin, Rajeshwari Sundaram, Erin Bell, Edwina H Yeung
doi : 10.1093/humrep/deac070
Human Reproduction, Volume 37, Issue 7, July 2022, Pages 1609–1618
Asthma and atopic conditions are prevalent in childhood. The development of these conditions may be linked to early life exposures, including the use of infertility treatments.
Obstetric and perinatal outcomes following programmed compared to natural frozen-thawed embryo transfer cycles: a systematic review and meta-analysis
Andrea Busnelli, Irene Schirripa, Francesco Fedele, Alessandro Bulfoni, Paolo Emanuele Levi-Setti
doi : 10.1093/humrep/deac073
Human Reproduction, Volume 37, Issue 7, July 2022, Pages 1619–1641
An important and growing source of concern regarding the use of FET on a wide spectrum of women, is represented by its association with obstetric and perinatal complications. However, reasons behind these increased risks are still unknown and understudied.
Perinatal outcomes in children born after fresh or frozen embryo transfer using donated oocytes
Filipa Rafael, Guillermo Mollá Robles, Alfredo T Navarro, Nicolas Garrido, Juan A Garcia-Velasco, Ernesto Bosch, Sofia Gouveia Nunes, Sérgio Reis Soares, Samuel Santos-Ribeiro
doi : 10.1093/humrep/deac074
Human Reproduction, Volume 37, Issue 7, July 2022, Pages 1642–1651,
Autologous singletons born after fresh ET have been previously associated with higher rates of preterm birth and low birthweight, while FETs seem to confer a higher risk of hypertensive disorders during pregnancy and macrosomia.
Actionable secondary findings following exome sequencing of 836 non-obstructive azoospermia cases and their value in patient management
Laura Kasak, Kristiina Lillepea, Liina Nagirnaja, Kenneth I Aston, Peter N Schlegel, João Gonçalves, Filipa Carvalho, Daniel Moreno-Mendoza, Kristian Almstrup, Michael L Eisenberg, Keith A Jarvi, Moira K O’Bryan, Alexandra M Lopes, Donald F Conrad, GEMINI Consortium , Margus Punab, Maris Laan
doi : 10.1093/humrep/deac100
Human Reproduction, Volume 37, Issue 7, July 2022, Pages 1652–1663
In addition to molecular diagnostics, ES allows assessment of clinically actionable disease-related gene variants that are not connected to the patient’s primary diagnosis, but the knowledge of which may allow the prevention, delay or amelioration of late-onset monogenic conditions. Data on SFs in specific clinical patient groups, including reproductive failure, are currently limited.
Biallelic HFM1 variants cause non-obstructive azoospermia with meiotic arrest in humans by impairing crossover formation to varying degrees
Xuefeng Xie, Ghulam Murtaza, Yang Li, Jianteng Zhou, Jingwei Ye, Ranjha Khan, Long Jiang, Ihsan Khan, Muhammad Zubair, Hao Yin, Hanwei Jiang, Wei Liu, Baolu Shi, Xiaoning Hou, Chenjia Gong, Suixing Fan, Yuewen Wang, Xiaohua Jiang, Yuanwei Zhang, Huan Zhang, Hui Ma, Qinghua Shi
doi : 10.1093/humrep/deac092
Human Reproduction, Volume 37, Issue 7, July 2022, Pages 1664–1677
HFM1 encodes an evolutionarily conserved DNA helicase that is essential for crossover formation and completion of meiosis. The null mutants of Hfm1 or its ortholog in multiple organisms displayed spermatogenic arrest at the MMI owing to deficiencies in synapsis and severe defects in crossover formation.
GENType: all-in-one preimplantation genetic testing by pedigree haplotyping and copy number profiling suitable for third-party reproduction
L De Witte, L Raman, M Baetens, A De Koker, N Callewaert, S Symoens, K Tilleman, F Vanden Meerschaut, A Dheedene, B Menten
doi : 10.1093/humrep/deac088
Human Reproduction, Volume 37, Issue 7, July 2022, Pages 1678–1691
Optimized reduced representation sequencing (RRS) by GENType, along with a novel analysis platform (Hopla), enables cheap, accurate and comprehensive PGT of blastocysts, even without the inclusion of additional family members or both biological parents for genome-wide embryo haplotyping.
What is the true preeclampsia risk in oocyte donation pregnancies?—lack of deconfounding may lead to risk overestimation
Frauke von Versen-Höynck, Georg Griesinger
doi : 10.1093/humrep/deac116
Human Reproduction, Volume 37, Issue 7, July 2022, Pages 1692–1693
Reply: What is the true preeclampsia risk in oocyte donation pregnancies?—lack of deconfounding may lead to risk overestimation
Monique Mochtar, Madelon van Wely, Anne Keukens
doi : 10.1093/humrep/deac117
Human Reproduction, Volume 37, Issue 7, July 2022, Page 1693
#ESHREjc report: non-invasive aneuploidy testing as an example of interdisciplinary innovation in ART
Omar Farhan Ammar, Claudia Massarotti, Kashish Sharma, Juan J Fraire-Zamora, Zoya Enakshi Ali, George Liperis, Antonio Capalbo, Roger Sturmey, Julia Uraji
doi : 10.1093/humrep/deac085
Human Reproduction, Volume 37, Issue 7, July 2022, Pages 1694–1696
