FS Reports最新文献

{"title":"Outcomes with intracytoplasmic sperm injection using fresh vs. frozen elongated spermatids from microsurgical testicular sperm extraction","authors":"Jason E. Elliott M.D., Christopher Labos M.D., Jim S. Meriano Ph.D., Keith Jarvi M.D., Ellen M. Greenblatt M.D.","doi":"10.1016/j.xfre.2026.08.005","DOIUrl":"10.1016/j.xfre.2026.08.005","url":null,"abstract":"<div><h3>Objective</h3><div>To evaluate the reproductive outcomes of intracytoplasmic sperm injection (ICSI) using fresh and frozen-thawed elongated spermatids obtained from microsurgical testicular sperm extraction (mTESE) from men with nonobstructive azoospermia.</div></div><div>To evaluate the reproductive outcomes of intracytoplasmic sperm injection (ICSI) using fresh and frozen-thawed elongated spermatids obtained from microsurgical testicular sperm extraction (mTESE) from men with nonobstructive azoospermia.</div><div><h3>Design</h3><div>Retrospective cohort study.</div></div><div>Retrospective cohort study.</div><div><h3>Subjects</h3><div>A total of 256 infertile men underwent one or more mTESE procedures between 2004 and 2017, with the intention of attempting to conceive via ICSI with their female partners.</div></div><div>A total of 256 infertile men underwent one or more mTESE procedures between 2004 and 2017, with the intention of attempting to conceive via ICSI with their female partners.</div><div><h3>Exposure</h3><div>Intracytoplasmic sperm injection was performed using fresh or frozen-thawed elongated spermatids.</div></div><div>Intracytoplasmic sperm injection was performed using fresh or frozen-thawed elongated spermatids.</div><div><h3>Main Outcome Measures</h3><div>Sperm retrieval rate, fertilization rate, blastulation rate, embryo transfer rate, positive β-human chorionic gonadotropin level, clinical pregnancy rate, live birth rate, miscarriage rate.</div></div><div>Sperm retrieval rate, fertilization rate, blastulation rate, embryo transfer rate, positive β-human chorionic gonadotropin level, clinical pregnancy rate, live birth rate, miscarriage rate.</div><div><h3>Results</h3><div>A total of 256 men with nonobstructive azoospermia underwent 292 mTESE procedures. Of these, 90 men underwent 99 mTESE procedures in which only elongated spermatids were retrieved, and ICSI was performed later. One hundred-thirty eight ICSI cycles were performed using fresh or frozen elongated spermatids. Overall, fertilization and blastulation rates were 35.3% and 19.3%, respectively. Clinical pregnancy and live birth rates were 4.3% and 2.9%, respectively. There were no differences between live birth outcomes with fresh and frozen elongated spermatids. This relationship persisted after adjusting for male age at the time of mTESE, female age at the time of ICSI, and number of oocytes inseminated (fresh vs. frozen-thawed, odds ratio = 0.40 [0.03–5.33]).</div></div><div>A total of 256 men with nonobstructive azoospermia underwent 292 mTESE procedures. Of these, 90 men underwent 99 mTESE procedures in which only elongated spermatids were retrieved, and ICSI was performed later. One hundred-thirty eight ICSI cycles were performed using fresh or frozen elongated spermatids. Overall, fertilization and blastulation rates were 35.3% and 19.3%, respectively. Clinical pregnancy and live birth rates were 4.3% and 2.9%, respectively. There were no differences","PeriodicalId":34409,"journal":{"name":"FS Reports","volume":"7 5","pages":"Pages 386-393"},"PeriodicalIF":2.2,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149153660","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Meiotic recombination observed through preimplantation genetic testing for two X-linked conditions: first reported case in humans","authors":"Anna Iversen M.S., L.C.G.C., Sara K. Gerber M.S., L.C.G.C., Solmaz Chamanara M.D., Kajal Verma M.D., Sophia M. Adelson M.S., L.C.G.C., Cindy Yang Ph.D., Christina G. Tise M.D., Ph.D.","doi":"10.1016/j.xfre.2026.08.001","DOIUrl":"10.1016/j.xfre.2026.08.001","url":null,"abstract":"<div><h3>Objective</h3><div>To report a case of human meiotic recombination illustrated by the use of preimplantation genetic testing for monogenic disorders (PGT-M) in a female patient heterozygous for pathogenic variants in cis on the X chromosome, highlighting the potential implications of meiotic recombination when performing PGT-M for ≥2 variants located on the same chromosome of a parental haplotype.</div></div><div>To report a case of human meiotic recombination illustrated by the use of preimplantation genetic testing for monogenic disorders (PGT-M) in a female patient heterozygous for pathogenic variants in cis on the X chromosome, highlighting the potential implications of meiotic recombination when performing PGT-M for ≥2 variants located on the same chromosome of a parental haplotype.</div><div><h3>Design</h3><div>Case report.</div></div><div>Case report.</div><div><h3>Subjects</h3><div>A G3P3 female patient, heterozygous for two X-linked pathogenic variants in cis, involving the <em>OTC</em> and <em>STS</em> genes<em>,</em> sought to conceive an unaffected pregnancy through the use of in vitro fertilization (IVF) with PGT-M on the basis of her history of having a son with ornithine transcarbamylase (OTC) deficiency and steroid sulfatase (STS) deficiency who died following a hyperammonemic crisis.</div></div><div>A G3P3 female patient, heterozygous for two X-linked pathogenic variants in cis, involving the <em>OTC</em> and <em>STS</em> genes<em>,</em> sought to conceive an unaffected pregnancy through the use of in vitro fertilization (IVF) with PGT-M on the basis of her history of having a son with ornithine transcarbamylase (OTC) deficiency and steroid sulfatase (STS) deficiency who died following a hyperammonemic crisis.</div><div><h3>Exposure</h3><div>Preimplantation genetic testing for monogenic disorders for maternal <em>OTC</em> and <em>STS</em> variants, previously determined to be in cis in the patient and her deceased son.</div></div><div>Preimplantation genetic testing for monogenic disorders for maternal <em>OTC</em> and <em>STS</em> variants, previously determined to be in cis in the patient and her deceased son.</div><div><h3>Main Outcome Measures</h3><div>Proportion of embryos that screened positive by PGT-M for both, neither, or only one of the maternal <em>OTC</em> and <em>STS</em> variants.</div></div><div>Proportion of embryos that screened positive by PGT-M for both, neither, or only one of the maternal <em>OTC</em> and <em>STS</em> variants.</div><div><h3>Results</h3><div>Preimplantation genetic testing for monogenic disorders was performed on 13 embryos. Nine (69%) embryos screened positive for both or neither of the maternal <em>OTC</em> (c.788A>G) and <em>STS</em> (1.6Mb deletion of Xp22.31) variants, as expected given their configuration in cis. Four embryos (31%) screened positive for only one variant (either the <em>OTC</em> or <em>STS</em> variant), suggestive of X-linked meiotic recombination occurring ","PeriodicalId":34409,"journal":{"name":"FS Reports","volume":"7 5","pages":"Pages 372-377"},"PeriodicalIF":2.2,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149162827","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Crossing over: when meiotic recombination impacts linkage-based preimplantation genetic testing for monogenic disorders","authors":"Elizabeth J. Klein M.D., Mindy S. Christianson M.D., M.B.A.","doi":"10.1016/j.xfre.2026.08.009","DOIUrl":"10.1016/j.xfre.2026.08.009","url":null,"abstract":"","PeriodicalId":34409,"journal":{"name":"FS Reports","volume":"7 5","pages":"Pages 364-365"},"PeriodicalIF":2.2,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149159473","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"When flexibility outpaces safety: rethinking pregnancy screening in random-start ovarian stimulation","authors":"Randy Morris M.D.","doi":"10.1016/j.xfre.2026.08.010","DOIUrl":"10.1016/j.xfre.2026.08.010","url":null,"abstract":"","PeriodicalId":34409,"journal":{"name":"FS Reports","volume":"7 5","pages":"Pages 362-363"},"PeriodicalIF":2.2,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149162746","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"What does life-table analysis of sequential euploid blastocyst transfers tell us about recurrent implantation failure–or lack thereof?","authors":"Richard J. Paulson M.D., M.S.","doi":"10.1016/j.xfre.2026.08.011","DOIUrl":"10.1016/j.xfre.2026.08.011","url":null,"abstract":"","PeriodicalId":34409,"journal":{"name":"FS Reports","volume":"7 5","pages":"Pages 343-345"},"PeriodicalIF":2.2,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149162743","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Live births following universal single-step warming across multiple vitrification systems","authors":"Lodovico Parmegiani Ph.D., Gabor Vajta Ph.D., Colleen Lynch M.D., Alessandra Arnone M.D., Caterina Pantoli M.D., Julia Ruggieri M.D., Silvia Bernardi M.D., Azzurra Rastellini M.D., Walter Ciampaglia M.D.","doi":"10.1016/j.xfre.2026.07.004","DOIUrl":"10.1016/j.xfre.2026.07.004","url":null,"abstract":"<div><h3>Objective</h3><div>To report live birth and neonatal outcomes across multiple commercial kit brands, including cross-brand combinations, thereby providing clinical validation of a universal warming method on the basis of single-step elution using 1 M nonpermeating solutes (NPS). Human blastocysts are routinely vitrified using commercial kits with minor compositional differences. Previous studies have shown that simplified single-step warming with 1 M NPS can reduce handling time and improve laboratory efficiency. However, this universal ultrafast warming approach has not been systematically evaluated across different warming kits or mixed vitrification–warming combinations.</div></div><div>To report live birth and neonatal outcomes across multiple commercial kit brands, including cross-brand combinations, thereby providing clinical validation of a universal warming method on the basis of single-step elution using 1 M nonpermeating solutes (NPS). Human blastocysts are routinely vitrified using commercial kits with minor compositional differences. Previous studies have shown that simplified single-step warming with 1 M NPS can reduce handling time and improve laboratory efficiency. However, this universal ultrafast warming approach has not been systematically evaluated across different warming kits or mixed vitrification–warming combinations.</div><div><h3>Design</h3><div>Retrospective observational study.</div></div><div>Retrospective observational study.</div><div><h3>Subjects</h3><div>A total of 469 vitrified blastocysts warmed between January 1, 2024 and December 31, 2024.</div></div><div>A total of 469 vitrified blastocysts warmed between January 1, 2024 and December 31, 2024.</div><div><h3>Exposure</h3><div>Blastocysts were vitrified using four commercially available kits and warmed by single-step elution in 1 M NPS from the corresponding thawing solutions, generating 12 vitrification–warming combinations. Vitrification was performed at room temperature (12–15 min in equilibration solution followed by 60 s in vitrification solution before plunging). Warming consisted of a single step in thawing solution (1 M NPS) at 37 °C.</div></div><div>Blastocysts were vitrified using four commercially available kits and warmed by single-step elution in 1 M NPS from the corresponding thawing solutions, generating 12 vitrification–warming combinations. Vitrification was performed at room temperature (12–15 min in equilibration solution followed by 60 s in vitrification solution before plunging). Warming consisted of a single step in thawing solution (1 M NPS) at 37 °C.</div><div><h3>Main Outcome Measures</h3><div>Cryosurvival, clinical pregnancy, implantation, live birth and neonatal outcomes.</div></div><div>Cryosurvival, clinical pregnancy, implantation, live birth and neonatal outcomes.</div><div><h3>Results</h3><div>Overall, 469 blastocysts were warmed and transferred in 428 cycles, resulting in 100% survival, a clinical pregnancy rate of 45.8%","PeriodicalId":34409,"journal":{"name":"FS Reports","volume":"7 5","pages":"Pages 404-408"},"PeriodicalIF":2.2,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149162749","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Microfluidic sperm separation for intracytoplasmic sperm injection yields similar blastocyst rates compared with density gradient, however, may be of benefit for male factor infertility: a randomized sibling oocyte study","authors":"Rani Fritz D.O, Ph.D., Alicia Arnott B.S., Jessica Tozour M.D., Ph.D., Linda Sung M.D., Maria Saketos M.D., Satu Kuokkanen M.D., Ph.D., Vasilios Goudas M.D., Anand Rajan M.P.H.","doi":"10.1016/j.xfre.2026.08.003","DOIUrl":"10.1016/j.xfre.2026.08.003","url":null,"abstract":"<div><h3>Objective</h3><div>To study whether microfluidic sperm separation in intracytoplasmic sperm injection cycles provides any benefit over density gradient sperm separation for good-quality embryo formation.</div></div><div>To study whether microfluidic sperm separation in intracytoplasmic sperm injection cycles provides any benefit over density gradient sperm separation for good-quality embryo formation.</div><div><h3>Design</h3><div>Randomized sibling oocyte study.</div></div><div>Randomized sibling oocyte study.</div><div><h3>Subjects</h3><div>Patients undergoing intracytoplasmic sperm injection.</div></div><div>Patients undergoing intracytoplasmic sperm injection.</div><div><h3>Intervention</h3><div>Microfluidic sperm separation vs. density gradient sperm separation.</div></div><div>Microfluidic sperm separation vs. density gradient sperm separation.</div><div><h3>Main Outcome Measures</h3><div>Primary outcomes were percentage of good-quality blastocyst formation. Secondary outcomes included sperm parameters after sperm separation, including percent motility, grade of forward progression, fertilization rates, blastocyst formation rates, and ploidy rates in the event that preimplantation testing for aneuploidy was performed. Additionally, subanalysis on those with male factor infertility was performed, evaluating primary and secondary outcomes above.</div></div><div>Primary outcomes were percentage of good-quality blastocyst formation. Secondary outcomes included sperm parameters after sperm separation, including percent motility, grade of forward progression, fertilization rates, blastocyst formation rates, and ploidy rates in the event that preimplantation testing for aneuploidy was performed. Additionally, subanalysis on those with male factor infertility was performed, evaluating primary and secondary outcomes above.</div><div><h3>Results</h3><div>A total of 34 cycles enrolled into the study, yielding 456 oocytes, 231 randomized to microfluidics and 225 to density gradient (DG). Average microfluidic fertilization rate was 76.1% ± 19.2% and 72.4% ± 26.6% for DG. Microfluidic blastocyst formation rate was 58.4% ± 31.9% compared with 58.7% ± 30.5% for DG. Good-quality blastocyst formation rate for microfluidics was 51.4% ± 29.7% and for DG was 51.7% ± 30.9%. Euploid rates were 43.8% ± 35.5% in the microfluidics cohort and 33.7% ± 33.3% in the DG cohort. Subanalysis of cycles with male factor infertility revealed good-quality blastocyst formation rate was 45.9% ± 30.9% after microfluidics and 55.1% ± 29.2% for DG. Subanalysis of cycles with male factor infertility revealed an euploid rate of 50.0% ± 37.6% after microfluidics compared with 18.4% ± 24.5% for DG.</div></div><div>A total of 34 cycles enrolled into the study, yielding 456 oocytes, 231 randomized to microfluidics and 225 to density gradient (DG). Average microfluidic fertilization rate was 76.1% ± 19.2% and 72.4% ± 26.6% for DG. Microfluidic blastocyst formation rate was 58.4% ","PeriodicalId":34409,"journal":{"name":"FS Reports","volume":"7 5","pages":"Pages 378-385"},"PeriodicalIF":2.2,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149162828","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Reviewers of the Year 2025–2026. F&S Reports celebrates excellence in our world-class reviewers","authors":"","doi":"10.1016/j.xfre.2026.08.008","DOIUrl":"10.1016/j.xfre.2026.08.008","url":null,"abstract":"","PeriodicalId":34409,"journal":{"name":"FS Reports","volume":"7 5","pages":"Pages 341-342"},"PeriodicalIF":2.2,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149162742","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The progestin anchor: salvaging mature oocyte yield after an unplanned six-day gonadotropin pause in oncofertility—a case report","authors":"Przemysław Ciepiela M.D., Ph.D., Arkadiusz Adamczyk M.D., Joanna Aszkiełowicz M.D., Weronika Józefowska M.D., Grzegorz Mrugacz M.D., Ph.D.","doi":"10.1016/j.xfre.2026.07.001","DOIUrl":"10.1016/j.xfre.2026.07.001","url":null,"abstract":"<div><h3>Objective</h3><div>To describe the retrieval of mature oocytes after an unplanned 6-day gonadotropin-free interval during oncofertility ovarian stimulation.</div></div><div>To describe the retrieval of mature oocytes after an unplanned 6-day gonadotropin-free interval during oncofertility ovarian stimulation.</div><div><h3>Design</h3><div>Case report.</div></div><div>Case report.</div><div><h3>Subjects</h3><div>A 22-year-old active-duty soldier with a serous borderline ovarian tumor undergoing fertility preservation after ovarian surgery.</div></div><div>A 22-year-old active-duty soldier with a serous borderline ovarian tumor undergoing fertility preservation after ovarian surgery.</div><div><h3>Exposure</h3><div>Progestin-primed ovarian stimulation using follitropin alfa and medroxyprogesterone acetate as the sole luteinizing hormone suppressor. Gonadotropin administration was unexpectedly interrupted for 6 days because of a nondeferrable military summons, while oral medroxyprogesterone acetate was maintained.</div></div><div>Progestin-primed ovarian stimulation using follitropin alfa and medroxyprogesterone acetate as the sole luteinizing hormone suppressor. Gonadotropin administration was unexpectedly interrupted for 6 days because of a nondeferrable military summons, while oral medroxyprogesterone acetate was maintained.</div><div><h3>Main Outcome Measures</h3><div>Metaphase II (MII) oocyte yield and maturation rate.</div></div><div>Metaphase II (MII) oocyte yield and maturation rate.</div><div><h3>Results</h3><div>The patient had undergone ovarian surgery approximately 9 months before the reference cycle and 12 months before the index cycle. Baseline antimüllerian hormone before fertility preservation was 1.77 ng/mL. In the reference cycle, 13 follicles ≥14 mm were present on the trigger day, and 13 oocytes were retrieved, including six MII oocytes that were vitrified. At the ultrasound assessment immediately preceding the gonadotropin-free interval in the index cycle, ultrasound showed nine visible follicles, including three follicles measuring <14 mm and six follicles measuring ≥14 mm. After the 6-day interval, the trigger-day ultrasound showed seven follicles ≥14 mm in diameter, ranging from 17 to 19 mm. Estradiol remained nearly stable across the interval, from 1,612 to 1,580 pg/mL, and endogenous progesterone on the trigger day was 1.1 ng/mL. Seven oocytes were retrieved, including five MII oocytes that were vitrified.</div></div><div>The patient had undergone ovarian surgery approximately 9 months before the reference cycle and 12 months before the index cycle. Baseline antimüllerian hormone before fertility preservation was 1.77 ng/mL. In the reference cycle, 13 follicles ≥14 mm were present on the trigger day, and 13 oocytes were retrieved, including six MII oocytes that were vitrified. At the ultrasound assessment immediately preceding the gonadotropin-free interval in the index cycle, ultrasound showed nine visible foll","PeriodicalId":34409,"journal":{"name":"FS Reports","volume":"7 5","pages":"Pages 430-435"},"PeriodicalIF":2.2,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149153662","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The limits of genetic screening: trisomy 21 after euploid preimplantation genetic testing for aneuploidy and negative noninvasive prenatal testing","authors":"Jennifer Law M.D.,&nbsp;Kyra Ramsey M.S.,&nbsp;Nicole Sprawka M.D.,&nbsp;Joana Perdigao M.D.","doi":"10.1016/j.xfre.2026.06.010","DOIUrl":"10.1016/j.xfre.2026.06.010","url":null,"abstract":"<div><h3>Objective</h3><div>To describe a case of false-negative preimplantation genetic testing for aneuploidy (PGT-A) and noninvasive prenatal test (NIPT) resulting in a neonate born with Down Syndrome.</div></div><div>To describe a case of false-negative preimplantation genetic testing for aneuploidy (PGT-A) and noninvasive prenatal test (NIPT) resulting in a neonate born with Down Syndrome.</div><div><h3>Design</h3><div>Case report</div></div><div>Case report</div><div><h3>Subjects</h3><div>A 40-year-old multiparous woman with in vitro fertilization pregnancy due to a history of tubal ligation presenting to an academic medical center.</div></div><div>A 40-year-old multiparous woman with in vitro fertilization pregnancy due to a history of tubal ligation presenting to an academic medical center.</div><div><h3>Exposure</h3><div>Prenatal aneuploidy screening with PGT-A and cell-free DNA.</div></div><div>Prenatal aneuploidy screening with PGT-A and cell-free DNA.</div><div><h3>Main Outcome Measures</h3><div>PGT-A test was conducted on a day 5 blastocyst which resulted as euploid. Subsequent NIPT test was obtained at 10 weeks and reported low-risk results.</div></div><div>PGT-A test was conducted on a day 5 blastocyst which resulted as euploid. Subsequent NIPT test was obtained at 10 weeks and reported low-risk results.</div><div><h3>Results</h3><div>The patient underwent vacuum-assisted vaginal delivery of a liveborn male infant with features of Down Syndrome. Postnatal karyotype confirmed nonmosaic trisomy 21.</div></div><div>The patient underwent vacuum-assisted vaginal delivery of a liveborn male infant with features of Down Syndrome. Postnatal karyotype confirmed nonmosaic trisomy 21.</div><div><h3>Conclusion</h3><div>PGT-A and NIPT are powerful tools used for risk reduction, but they do not eliminate risk.</div></div><div>PGT-A and NIPT are powerful tools used for risk reduction, but they do not eliminate risk.</div>","PeriodicalId":34409,"journal":{"name":"FS Reports","volume":"7 5","pages":"Pages 425-429"},"PeriodicalIF":2.2,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149162683","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}