Pregnancies established through intracytoplasmic sperm injection (ICSI) using spermatozoa with dysplasia of fibrous sheath

Aim:Dysplasia of the fibrous sheath(DFS)is an anomaly found in asthenozoospermic patients with extremely lowor absent motility.In order to determine the efficacy of ICSI in these patients,a retrospective analysis of ICSI results inDFS patients has been done.Methods:Ten ICSI attempts were performed in 6 patients with diagnosis of Dysplasiaof the Fibrous Sheath studied by transmission and scanning electron microscopy.Results:In the cases studied,sperm concentration was(29.62±18.05)×10^(6)/mL,total motility was 1.14±1.31%.Progressive motility was 0%except for one case with 0.1%.One hundred and three preovulatory oocytes were obtained and 94 metaphaseⅡoocyteswere injected.Sixty-nine of them showed two pronuclei(fertilization rate:73.4%).Forty-nine embryos were ob-tained and 34 were transferred(mean:3.4 embryos per transfer).Five pregnancies were diagnosed byβ-hCG plasmalevel determinations that resulted to be one preclinical abortion,one clinical abortion and three deliveries.Anotherpregnancy(ongoing)was achieved from a cryopreserved embryo transfer.Conclusion:These results showed thatICSI provides a suitable solution for patients suffering from irreversible sperm defects such as DFS.Nevertheless,it ismandatory to inform couples of possible transmission risks to offspring,which are unknown at present.Only when theetiology of this problem is disclosed,it will be possible to assess the real genetic risk.

Fertilization of in vitro matured human oocytes by intracytoplasmic sperm injection (ICSI) using ejaculated and testicular spermatozoa

Aim: To evaluate the fertilization competence of spermatozoa from ejaculates and testicle when the oocytes were matured in vitro following intracytoplasmic sperm injection (ICSI). Methods: Fifty-six completed cycles in 46 women with polycystic ovarian syndrome were grouped according to the semen parameters of their male partners. Group 1 was 47 cycles that presented motile and normal morphology spermatozoa in ejaculates and Group 2 was the other nine cycles where male partners were diagnosed as obstructive azoospermia and spermatozoa could only be found in testicular tissue fragment. All female patients received minimal stimulation with gonadotropin. Immature oocytes were matured in vitro and inseminated by ICSI. The spermatozoa from testes were retrieved by testicular fine needle aspiration. Results: A total of 449 and 78 immature oocytes were collected and cultured for 48 hours, 75.5 % (339/449) and 84.6 % (66/78) oocytes were matured in Groups 1 and 2, respectively. The percentage of oocytes achieving normal fertilization was significantly higher in Group 1 than that in Group 2 (72.9 % vs. 54.5 %, P < 0.05). There were no significant differences in the rates of oocytes cleavage and clinical pregnancies in these two groups [87.4 % (216/247) vs. 88.9 % (32/36); 21.3 % (10/47) vs. 44.4 % (4/9)]. A total of 15 babies in the two groups were healthy delivered at term. Conclusion: It appears that IVM combined with ICSI using testicular spermatozoa can produce healthy infants, while the normal fertilization rate of in vitro matured oocytes after ICSI using testicular spermatozoa was significantly lower than using the ejaculated spermatozoa.

A nomogram predicting clinical pregnancy in the first fresh embryo transfer for women undergoing in vitro fertilization and intracytoplasmic sperm injection(IVF/ICSI) treatments

The extent to which factors affect the probability of clinical pregnancy in the first fresh embryo transfer after assisted conception is unknown.In order to examine the predictors of clinical pregnancy,a retrospective cohort study was launched between January 1,2013 and December 31,2016 in four infertility clinics including 19837 in vitro fertilization and intracytoplasmic sperm injection(IVF/ICSI)fresh cycles with known outcomes and relevant records.A multivariable logistic regression was used to select the most significant predictors in the final nomogram for predicting clinical pregnancy.Furthermore,the model was validated by an independent validation set and the performance of the model was evaluated by the receiver operating characteristic(ROC)curves along with the area under the ROC curve(AUC)and calibration plots.In a training set including 17854 participants,we identified that female age,tubal factor,number of embryos transferred,endometrial thickness and number of good-quality embryos were independent predictors for clinical pregnancy.We developed a nomogram using these five factors and the predictive ability was 0.66 for AUC(95%CI=0.64−0.68),which was independently validated in the validation set(AUC=0.66,95%CI=0.65−0.68).Our results show that some specific factors can be used to provide infertile couples with an accurate assessment of clinical pregnancy following assisted conception and facilitate to guide couples and clinicians.

Genetic and epigenetic risks of intracytoplasmic sperm injection method

Pregnancies achieved by assisted reproduction technologies, particularly by intracytoplasmic sperm injection （ICSI） procedures, are susceptible to genetic risks inherent to the male population treated with ICSI and additional risks inherent to this innovative procedure. The documented, as well as the theoretical, risks are discussed in the present review study. These risks mainly represent thatconsequences of the genetic abnormalities underlying male subfertility （or infertility） and might become stimulators for the development of novel approaches and applications in the treatment of infertility. In addition, risks with a polygenic background appearing at birth as congenital anomalies and other theoretical or stochastic risks are discussed. Recent data suggest that assisted reproductive technology might also affect epigenetic characteristics of the male gamete, the female gamete, or might have an impact on early embryogenesis. It might be also associated with an increased risk for genomic imprinting abnormalities.

Clinical pregnancies and livebirths achieved by intracytoplasmic injection of round headed acrosomeless spermatozoa with and without oocyte activation in familial globozoospermia： case report

We report the successful outcome of intracytoplasmic sperm injection （ICSI） treatment in two siblings with familial globozoospermia. After controlled ovarian hyperstimulation and oocyte pick-up, retrieved oocytes were mechanically activated before ICSI and a fertilization rate of 33.3% was achieved in the first case. The second couple underwent ICSI without oocyte activation and a 9.1% fertilization rate was obtained. The transfer of two grade I embryos in the first couple and one grade I embryo in the second couple resulted in clinical pregnancies with healthy livebirths. It was concluded that the main problem of cases with globozoospermia is a low fertilization rate, and even though ICSI and oocyte activation can increase this rate it is not necessarily needed to achieve a pregnancy. （Asian J Androl 2008 Mar; 10： 332-336）

Intracytoplasmic sperm injection in cases with a history of in vitro fertilization failure

<abstract>Aim: To evaluate the effect of intracytoplasmic sperm injection (ICSI) in the management of cases with a history of conventional in vitro fertilization (IVF) failure. Methods: Two groups of patients, 19 with normal semen parameters and a history of IVF failure (metaphase Ⅱ oocytes: 0~30 %) and 28 with severe male factor infertility received ICSI technology during the same period. Ovarian stimulation was achieved by conventional procedure. Transvaginal ultrasound-guided oocyte collection was done 35~37 h after human chorionic gonadotrophin (hCG) injection. Only metaphase Ⅱ oocytes were selected for microinjection. Results: Fertilization was achieved with ICSI in all the patients. The fertilization rate (75.6 %±21.1 % vs. 73.9 %±19.2 %), cleavage rate (85.1 %±19.3 % vs. 82.7 %±22.1 %), clinical pregnancy rate per embryo transfer cycle (31.6 % vs. 28.6 %) and implantation rate per embryo (15.3 % vs. 14.4 %) did not differ significantly between the two groups. Conclusion: ICSI is a valuable method for couples with a history of IVF failure. These patients may have a similar ICSI result as in severe male infertility.

Birth after intracytoplasmic sperm injection of ejaculated spermatozoa from a man with mosaic Klinefelter's syndrome

Aim:To report a birth after intracytoplasmic sperm injection (ICSI) of ejaculated spermatozoa from a man with mosaic Klinefelter's syndrome detected by fluorescence in situ hybridization (FISH) analysis.Methods:A 35-year- old man with a normal appearance consulted our hospital because of sterility over a 5-year period.Chromosome analysis showed low-incidence mosaic Klinefelter's syndrome.Using FISH,96 % hyperploidy of the lymphocytes was found.We examined the sex chromosome of the ejaculated spermatozoa.Using FISH,we examined 200 ejacu- lated spermatozoa and no hyperploidy was found.Results:The 33-year-old female partner of the male patient underwent an uncomplicated controlled ovarian hyperstimulation sequence using a combined recombinant-follicle stimulating hormone (rec-FSH) + human menopausal gonadotrophin (hMG) protocol,following late luteal phase pituitary down regulation.This culminated in the retrieval of seven oocytes,six of which were fertilized with ICSI. One ICSI attempt led to clinical pregnancy with a healthy baby girl.Conclusion:We report a male patient with low- incidence mosaic Klinefelter's syndrome whose ejaculated spermatozoa were identified as being haploid by FISH before ICSI,leading to the successful pregnancy of his wife and the birth of a healthy baby girl.

Intracytoplasmic sperm injection in the treatment of male infertility due to obstructive or non-obstructive azoospermia

Objective: To evaluate the effects of intracytoplasmic sperm injection (ICSI) ontreatment of infertility due to obstructive and non-obstructive azoospermia..Methods: A retrospective analysis of fertilization, cleavage, embryo implantationand pregnancy rates was done in 158 ICSI cycles including 112 obstructive azoospermiaand 46 non-obstructive azoospermia. Ovarian hyperstimulation and ICSI procedureswere performed by conventional protocol. The sperm was collected by percutaneous epi-didymal sperm aspiration (PESA) or testicular sperm extraction (TESE).Results:The fertilization rate (73.1% vs. 67.0%), cleavage rate (88.6% vs. 86.3%), embryo implantation rate (20.7% vs. 11.4%), clinical pregnancy rate per trans-fer cycle (35.7% vs. 19.6%) were obtained for obstructive and non-obstructiveazoospermia, respectively.Conclusion: The results revealed that in the cases of obstructive azoospermia, ferti-lization rate, embryo implantation rate and clinical pregnancy rate were significantlyhigher than those of non-obstructive azoospermia. But there was no significant differ-ence of the cleavage rate between two groups.

Role of Dehydroepiandrosterone Supplementation in Improving Intracytoplasmic Sperm Injection Outcome for Women with Expected Poor Ovarian Response

Background: As regard to adjuvant supplementations, nowadays dehydroepiandrosterone (DHEA) is widely used all over the world and is considered to be a potential agent to ameliorate the assisted reproduction technologies outcomes of infertile women with poor ovarian reserve. Objective: To find out the role of DHEA supplementation in improving intracytoplasmic sperm injection (ICSI) outcome for infertile women with expected poor ovarian response in controlled ovarian stimulation. Setting: Assisted reproduction unit of Obstetrics and Gynecology Department, Faculty of Medicine, South Valley University, Egypt. Duration: From April 2016 to May 2018. Study Design: A randomized double-blinded controlled trial. Methods: One hundred and forty infertile women with expected poor ovarian response prepared for ICSI procedure were included in this study. Patients were divided into two groups;group I (DHEA group) included 70 patients received 25 mg DHEA 12 weeks prior to ICSI cycle and group II (placebo group) included 70 patients received a placebo. Results: There was a highly statistically significant difference in basal AFC at start of ICSI cycle in group I (who received DHEA supplementation for 12 weeks prior to ICSI procedure) than in group II (13.8 ± 5.3 versus 10.7 ± 4.6 respectively) with P < 0.001. There were mildly statistically significant differences between group I and group II as regard to increase in the number and quality of retrieved oocytes, increased in endometrial thickness, fertilization rate and embryo quality with p value < 0.05 but there was no statistically significant difference between the 2 groups as regard to pregnancy (chemical and clinical) rates (p value > 0.05). Conclusions & Recommendations: DHEA supplementations improved basal AFC, increased the number & quality of oocytes and increased quality of embryos in infertile patients with expected poor ovarian response in ICSI procedure. So DHEA supplementations could be an important adjuvant for infertile women with expected poor ovarian response in ICSI procedure.

Effect of Vitamin D Supplementation on Intracytoplasmic Sperm Injection Outcomes: A Randomized Double-Blinded Placebo-Controlled Trial

OBJECTIVE: To assess the effect of vitamin D supplementation on enhancement of embryos implantation rates in intracytoplasmic sperm injection procedures. STUDY DESIGN: A randomized double-blinded controlled trial. SETTING: Assisted Reproduction Unit of Obstetrics and Gynecology Department, Faculty of Medicine, South Valley University, Egypt. DURATION: From December 1st 2017 to the end of October 2018. SUBJECTS and METHDS: Eighty infertile couples that underwent ICSI procedure were entrapped in this study. Patients were divided into two groups;Group I (Vitamin D group) = 40 patients (received vitamin D supplementation in the form of Vidrop oral drops 600 IU/day starting after ovum pickup) and Group II (placebo group) = 40 patients (received a placebo “normal saline oral drop”). RESULTS: There was a significantly increased embryo implantation rates (53.2% in vitamin D group versus 46.7% in placebo group), there was a mild statistically significant difference in the clinical pregnancy rates (45.9% in vitamin D group versus 39.4% in placebo group) with p-value < 0.05 and there was an improvement in ongoing pregnancy rate as there was a mild statistically significant difference in first trimester miscarriage rates (12.5% in vitamin D group versus 17.5% in placebo group) with p value CONCLUSIONS: Vitamin D supplementation could improve embryos implantation rates and rate of ongoing pregnancy by decline in the first trimester miscarriage rate.

Cumulative live birth rates of in vitro fertilization/intracytoplasmic sperm injection after multiple complete cycles in China

There were few studies of cumulative live birth rates(CLBRs) based on multicenter reproductive clinical data from the general Chinese population.Here we report a retrospective cohort study,including 14 311 women with17 315 cycles,in three reproductive centers to evaluate two estimated parameters of CLBRs with multiple transfer cycles of in vitro fertilization(IVF)/intracytoplasmic sperm injection(ICSI) in a Chinese population.We found that CLBRs were related to female age and endometrial thickness.By the fourth transfer cycle,the conservative and optimal estimates of CLBRs were 52.95% and 77.30% in women under 30 years of age,and 18.17% and26.51% in those 37 years of age or older,respectively.The two estimates were 44.70% and 63.15% in women with endometrial thickness more than 7 mm,and 32.05% and 46.18% in those with less than 7 mm,respectively.In addition,body mass index(BMI),duration of infertility,and infertility diagnoses may also be related to CLBRs on certain conditions.The findings from this study on CLBRs after multiple transfer cycles of IVF/ICSI treatment on different conditions in the Chinese population should be beneficial to both infertile couples and clinicians.

In vitro maturation of human oocytes maintaining good development potential for rescue intracytoplasmic sperm injection with fresh sperm

BACKGROUND The outcomes of the use of commercial in vitro maturation(IVM)medium to culture immature oocytes obtained from conventional ovulation induction,followed by rescue intracytoplasmic sperm injection(RICSI),are not ideal.It is thus difficult to widely adopt this approach in clinical practice.Therefore,it is necessary to explore methods for improving the clinical outcome of IVM.AIM To study the effect of sperm on the developmental potential of in vitro-matured oocytes in conventional culture.METHODS This was a retrospective study of patients whose immature oocytes were harvested from conventional oocyte stimulation cycles and underwent ICSI at our hospital between June 2018 and August 2020.RICSI was performed using sperm collected on the day of oocyte harvest(old)and sperm collected on the day of RICSI(fresh)and oocytes matured in vitro after 24 h of culture in conventional medium.The rates of in vitro oocyte maturation,normal fertilization,normal cleavage,day-3 top-quality embryos,and useful blastocyst formation were compared between the two groups.RESULTS In total,102 germinal vesicle(GV)-stage immature oocytes were cultured in the old sperm group.In the fresh sperm group,122 GV-stage immature oocytes were collected and cultured in vitro for 24 h.There were no significant differences in the general conditions of males and females between the two groups(P>0.05).The oocyte maturation,normal fertilization,and normal cleavage rates of the old and fresh groups were 51.0%vs 55.7%,61.5%vs 64.7%,and 93.8%vs 93.2%,respectively.None of the rates differed significantly(P>0.05)between the two groups.However,the day-3 top-quality embryo and useful blastocyst rates of the old and fresh sperm groups were 16.6%vs 63.4%;6.67%vs 34.6%,respectively.The day-3 top-quality embryos and useful blastocyst rates of the old sperm group were significantly lower than those of the fresh group(P<0.05).CONCLUSION In vitro maturation with conventional culture medium combined with the use of fresh sperm collected on the day of RICSI is an easy-to-implement strategy for patients whose oocytes are completely or mostly immature.

Effect of Fasting of Ramadan on Infertile Women Undergoing In-Vitro Fertilization/Intracytoplasmic Sperm Injection Cycles: A Prospective Cohort Study

Objective: To determine the effects of fasting of Ramadan in patients undergoing in-vitro fertilization (IVF)/intracytoplasmic sperm injection (ICSI) cycles. Design: A prospective cohort study conducted during Ramadan. Setting: Ain Shams University IVF centre. Population: Three hundred fasting, infertile women undergoing their first trial of IVF/ICSI and 300 non-fasting matched controls undergoing the same procedure during Ramadan. Methods: Anxiety and depression were measured by the Hospital Anxiety and Depression Scale, at the start of the induction protocol. All the successful pregnant women were followed up until delivery. Main Outcome Measures: The primary outcome measure was the live birth rate. Results: The live birth rate was higher in the fasting group than in the non-fasting group;this was not significant (43% vs. 40%, P = 0.46). The fasting group needed higher doses and durations of induction. Embryo quality did not differ between both groups. The pregnancy complication rate among successful cases was higher in the fasting group (52.9% vs. 40.4%, P = 0.03);however, the frequencies of anxiety and depression were significantly lower than those in the non-fasting group (18% vs. 38%, P P < 0.00001, respectively). Conclusion: Fasting during Ramadan does not seem to significantly affect the IVF/ICSI outcome;however, it significantly decreased the anxiety and depression usually associated with these procedures.

IVF/ICSI-ET中胚胎实时监测系统与常规形态学评估选择性单胚胎移植累积活产率分析

目的:分析胚胎实时监测(TLM)系统和常规形态学评估(CMA)在体外受精/卵胞浆内单精子注射-胚胎移植(IVF/ICSI-ET)中选择性单胚胎移植的临床应用价值,并初步探讨拉曼光谱分析胚胎培养液对临床妊娠率的预测价值。方法:本研究为前瞻性随机对照临床研究,选择2019年4月至2020年7月在苏州市立医院生殖与遗传中心行IVF/ICSI-ET助孕的139例患者,随机分为TLM组和CMA组,分别选择最优胚胎行单胚胎移植(新鲜周期和复苏周期),患者第1次胚胎移植未获临床妊娠,则进行第2次,比较两组患者移植后的累积活产率和其他妊娠结局差异。同时收集IVF/ISCI受精后第3天胚胎培养液15μl,进行拉曼光谱分析。结果:TLM组与CMA组的累积活产率、累积临床妊娠率、累积早产率、累积早期自然流产率、累积异位妊娠率、累积早产率、小于胎龄儿或大于胎龄儿差异均无统计学意义(P>0.05)。TLM组新生儿性别比低于CMA组,但差异无统计学意义(P>0.05)。胚胎培养液拉曼光谱分析预测临床妊娠率的准确度为67.21%。结论:在卵巢储备功能良好的年轻女性中,进行选择性单胚胎移植时TLM评估胚胎优势不明显,需警惕基于动力学参数的胚胎选择可能影响性别比。拉曼光谱分析胚胎培养液尚不能很好地预测胚胎的种植能力。

高龄女性IVF/ICSI无可利用胚胎危险因素探讨

目的:探讨高龄女性体外受精(in vitro fertilization,IVF)/卵胞质内单精子注射(intracytoplasmic sperm injection,ICSI)周期取卵后无可利用胚胎的危险因素。方法:回顾性分析2015年1月—2021年12月在河北省生殖健康医院生殖中心行IVF/ICSI助孕的高龄女性共569个取卵周期,其中95个无可利用胚胎周期作为研究组,474个有可利用胚胎的周期作为对照组。2组女性按年龄分为3个亚组:35~39岁为G1组,40~42岁为G2组,43~45岁为G3组。比较各组患者的促排卵情况和实验室指标。结果:2组间相应年龄亚组患者的年龄、不孕年限、体质量指数(body mass index,BMI)、基础卵泡刺激素(follicle-stimulating hormone,FSH)、基础雌二醇(estradio,E2)、抗苗勒管激素(anti-Müllerian hormone,AMH)和启动日窦卵泡计数(antral follicle count,AFC)比较,差异均无统计学意义(均P>0.05)。2组扳机日黄体生成素(luteinizing hormone,LH)水平在G2亚组间比较,差异有统计学意义(P<0.05);扳机日E2水平、卵泡输出率(follicular output rate,FORT)在G1、G2亚组间比较,差异有统计学意义(均P<0.05);扳机日优势卵泡计数(preponderance follicle count,PFC)在3个亚组间比较,差异均有统计学意义(均P<0.05);促性腺激素(gonadotropin,Gn)用量、Gn天数、扳机作用时间、扳机日孕酮(progesterone,P)水平和扳机日E2/PFC在3个亚组间比较,差异均无统计学意义(均P>0.05)。获卵数、MⅡ卵数、受精总数、卵裂总数、双原核(two pronuclei,2PN)数和2PN卵裂数在3个亚组间比较,差异均有统计学意义(均P<0.05)。Logistic回归分析显示,不孕年限是取卵后无可利用胚胎的危险因素,而扳机日PFC增加是保护因素。结论:高龄女性IVF/ICSI助孕中,随着不孕年限的增加,无可移植胚胎的发生率增加,而高PFC可能降低无可移植胚胎的发生风险。

卵母细胞成熟度在高龄患者ICSI治疗结局中的影响研究

目的:探究高龄患者卵胞浆内单精子注射(ICSI)中卵母细胞成熟度对其治疗结局的影响。方法:选取赣州市妇幼保健院于2019年1月—2022年12月收治的进行ICSI助孕治疗的142例高龄患者作为研究对象,根据患者卵母细胞成熟度(成熟卵母细胞与取卵获得卵母细胞数之比)将患者分为A组(成熟度>80%,n=104)、B组(60%<成熟度≤80%,n=28)、C组(成熟度≤60%,n=10)。比较三组获卵情况及妊娠结局[受精率、双原核(2PN)受精率、优质胚胎率、囊胚形成率、累计临床妊娠率]。结果:三组获卵率、平均获卵数、≥14 mm卵泡数、MⅡ卵率比较,差异均有统计学意义(P<0.05)。A组获卵率、平均获卵数、≥14 mm卵泡数、MⅡ卵率均显著高于B组与C组(P<0.05)。三组受精率、优质胚胎率、囊胚形成率、累计妊娠率比较,差异均无统计学意义(P>0.05)。三组2PN受精率比较,差异有统计学意义,且以A组的2PN受精率最高(P<0.05)。A组与B组的累计妊娠率均高于C组,差异均有统计学意义(P<0.05)。结论:高龄患者行ICSI治疗结局受卵母细胞成熟度的影响,卵母细胞成熟度低可对获卵情况、受精及胚胎发育造成负面影响。

两种阴道给药黄体酮制剂在IVF-ET/ICSI中作为黄体支持的疗效评价

目的比较阴道给药黄体酮软胶囊和黄体酮阴道缓释凝胶用于体外受精-胚胎移植(IVF-ET)/卵泡浆内单精子显微注射(ICSI)过程中的黄体支持疗效。方法回顾性分析2021年1月至2022年12月于我院进行黄体期短效长方案促排卵IVF-ET/ICSI助孕的2258例患者的临床资料,根据取卵后选择的黄体支持方案的不同分为两组,A组1443个周期,采用阴道给药黄体酮软胶囊联合口服地屈孕酮片;B组815个周期,采用阴道给药黄体酮阴道缓释凝胶联合口服地屈孕酮片,比较两组患者的一般情况、HCG注射日指标及妊娠结局。结果A组和B组患者的年龄、不孕年限、体重指数(BMI)、基础内分泌水平(bFSH、bLH、bE2和bPRL)、HCG注射日内膜厚度、HCG注射日≥14 mm卵泡数、HCG注射日孕酮(P)、获卵数、移植数、着床率、生化妊娠率、临床妊娠率、多胎率、异位妊娠率、早期流产率、中晚期流产率、早产率和足月产率组间均无统计学差异(P>0.05),而A组的雌二醇(E2)值高于B组(P<0.05),差异有统计学意义。结论采用黄体期短效长方案促排卵进行IVF-ET/ICSI的患者,经阴道给药黄体酮软胶囊和黄体酮阴道缓释凝胶均能达到较理想的黄体支持作用,得到较好的妊娠结局,着床率、临床妊娠率、生化妊娠率和早期流产率等相似。

Patients with MMAF induced by novel biallelic CFAP43 mutations have good fertility outcomes after intracytoplasmic sperm injection

As a specific type of asthenoteratozoospermia,multiple morphological abnormalities of the sperm flagella(MMAF)is characterized by composite abnormalities,including absent,short,coiled,angulation,and irregular-caliber flagella.Mutations in cilia-and flagella-associated protein 43(CFAP43)are one of the main causative factors of MMAF established to date.To identify whether there are other CFAP43 mutations related to MMAF and to determine the clinical outcomes of assisted reproductive technology for patients with MMAF harboring different mutations,we recruited and screened 30 MMAF-affected Chinese men using a 22-gene next-generation sequencing panel.After systematic analysis,seven mutations in CFAP43,including five novel mutations and two previously reported mutations,were identified from four families and related to MMAF in an autosomal recessive pattern.Papanicolaou staining,immunofluorescence,and electronic microscopy further clarified the semen characteristics a nd abnormal sperm morphologies,including disorganized axonemal and peri-axonemal structures,of the CFAP43-deficient men.The female partners of two patients were pregnant after undergoing assisted reproductive technology through intracytoplasmic sperm injection,and one of them successfully gave birth to a healthy boy.This study significantly expands the mutant spectrum of CFAP43,and together with the available information regarding male infertility and MMAF,provides new information for the genetic diagnosis and counseling of MMAF in the future.

Real value oftheoocyteswith smooth endoplasmic reticulum aggregates in in vitro fertilization/intracytoplasmic sperm injection cycle: a retrospective cohort study

objective:The management of oocytes affected by smooth endoplasmic reticulum aggregates(SERa)remains debatable.To understand how to manage SERa+oocytes and cycles,we performed a retrospective cohort study and analyzed the impact of SERa+cycles and oocytes on clinical and neonatal outcomes.Methods:We included 4856 cycles(149 SERa+and 4707 SERa-)from 4201 women(age:21-42 years)who received in vitro fertilization/intracytoplasmic sperm injection(IVF/ICSl)treatments at the Center of Reproductive Medicine,First Affliated Hospital of Army Military University,from 2016 to 2019.SERa+cycles had at least one SERa oocyte in the oocyte cohort.All 1722 oocytes in the SERa+cycle were divided into SERa+(405)and SERa-(1317)oocytes.Results:The rates of two pronuclei(2PN)and high-quality embryos were lower in SERa+cycles than in SERa-cycles,regardless of IVF or ICSI(P<0.05).As the proportion of SERa+oocytes increased in the SERa+cycles,the rate of high-quality embryos declined gradually(P<0.05).Furthermore,the rate of 2PN in SERa+oocytes was significantly lower than that in SERa-oocytes(P<0.05).Regardless of whether IVF or ICSl insemination was performed,no significant differences in terms of clinical pregnancy rate and spontaneous abortion rate were observed between SERa+and SERa-cycles or between SERa+and SERa-oocytes(P>0.05).conclusion:Normal fertilization with SERa+cycles and oocytes was substantially reduced,regardless of the insemination method.Embryos originating from SERa+oocytes can be transferred when there are no other options,but fully informed consent and strict follow-up of fetal development are mandatory.

严重少弱畸精子症患者精液和睾丸中精子的ICSI临床结局比较

目的 探讨睾丸取精能否改善严重少弱畸精子症的男性不育患者行卵胞浆内单精子注射(ICSI)的临床结局。方法 回顾性分析2016年1月至2020年6月因男性严重少弱畸形精子症于保定市妇幼保健院生殖医学科行ICSI助孕的58对夫妇的临床资料。按照获取精子的方式不同,将患者分为两组:射出精子ICSI组(E-ICSI组,56个周期)和睾丸精子ICSI组(T-ICSI组,42个周期)。比较两组患者的基础资料、促排卵情况、授精及胚胎发育情况和临床妊娠结局的差异。结果 58对夫妇共接受了98个ICSI周期,56个周期(57.14%)使用射精精子,42个周期(42.86%)使用睾丸精子。两组患者的基础资料、促排卵方案、Gn用量、HCG日E2及P水平、成熟卵数、获卵数比较,均无统计学差异(P>0.05)。E-ICSI组与T-ICSI组的2PN受精率(56.4%vs. 53.4%)、优质胚胎率(8.5%vs. 6.1%)、卵母细胞利用率(25.9%vs. 24.2%)均无统计学差异(P>0.05)。E-ICSI组与T-ICSI组的新鲜周期临床妊娠率(22.7%vs. 27.0%)、冻融周期临床妊娠率(35.7%vs. 66.7%)和一次控制性卵巢刺激(COS)累积活产率(25.0%vs. 40.5%)均无统计学差异(P>0.05)。结论 基于本研究的结果,暂不推荐严重少弱畸精子症患者直接选择睾丸精子进行ICSI,只有当射出精液离心后未发现正常形态活精子的情况下,选择睾丸精子作为继续ICSI的补救性手段。