Objective To investigate the application value of single nucleotide polymorphism(SNP)linkage analysis based on next-generation sequencing(NGS)technology in preimplantation genetic testing(PGT)of families with autosomal recessive polycystic kidney disease(ARPKD).Methods A family with ARPKD was selected,where the female member had a pregnancy ultrasound revealing polycystic kidney in the fetus.Genetic testing showed compound heterozygous mutations of the polycystic kidney/polycystic liver disease 1 gene(PKHD1),c.10444C>T(paternal)and c.4303del(maternal),with the c.4303del mutation being reported for the first time.Targeting the coding region of the PKHD1 gene,335 high-density tightly linked SNP sites were selected in the upstream and downstream 2M regions using multiplex polymerase chain reaction(PCR)and NGS.The couple′s SNP risk haplotypes carrying gene mutations were constructed.After in vitro fertilization,blastocyst culture was performed.Trophoblastic cells obtained from the biopsy were subjected to whole-genome amplification,and NGS was used for linkage analysis and low-depth chromosomal aneuploidy screening of the embryos.Sanger sequencing was used to verify the results of embryo linkage analysis.Results Among the 6 biopsied embryos,4 were mutation-free and euploid,1 exhibited heterozygous for the mutation and mosaic while another unstable sequencing data,making it impossible to judge.One of the mutation-free and developmentally healthy euploid embryos was implanted into the maternal uterus,resulting in the full-term delivery of a healthy baby.Conclusion Application of NGS-based SNP linkage analysis in PGT can effectively blocking the vertical transmission of ARPKD within families,while avoiding abortion issues caused by aneuploid embryos.This study is also the first PGT report target-ing the PKHD1 gene c.4303del mutation.

Objective To analyze the characteristics of males with autologous sperm preservation(ASP)in Anhui human sperm bank,and to explore the future direction of ASP in human sperm bank.Methods The basic infor-mation of males applied for ASP in Anhui human sperm bank from January 2019 to December 2023 was retrospec-tively analyzed.Results During this period,there were 424 males applied for ASP.93.40％(396/424)came from Anhui Province,of which 46.46％(197/424)came from Hefei.The age range of them was 15 to 59 years old.66.04％(280/424)had a college degree or above.23.11％(98/424)were employees of public institutions or enterprises.26.89％(114/424)were unmarried and 89.39％(379/424)were childless.67.45％(286/424)patients applied for ASP because of assisted reproductive technology treatment.15.33％(65/424)patients did it due to tumors,among which testicular cancer,lymphoma,leukemia and seminoma were the main reasons.A total of 1 163 semen samples were saved,and 53 males had used their sperm.Conclusion Only a few people applied for ASP,and the characteristics of males with ASP can be used to further strengthen publicity for key groups,espe-cially cancer patients,so as to benefit more people with autologous sperm preservation.

Objective To investigate the clinical effects and pregnancy outcomes of using luteal phase long protocol and GnRH antagonist protocol in patients with polycystic ovary syndrome(PCOS)who have failed their first GnRH antagonist protocol therapy.Methods The clinical data of 163 PCOS patients who underwent IVF/ICSI-ET were retrieved.After the failure of their first GnRH antagonist protocol treatment,they were divided into two groups in the second controlled ovarian hyperstimulation(COH)cycle:Luteal phase long protocol group(n=95)and Gn-RH antagonist protocol group(n=68).A retrospective analysis and comparison of basic clinical data,clinical and laboratory indicators,and pregnancy outcomes between two groups were conducted.Results ① There was no sta-tistically significant difference in basic clinical indicators between two group except LH.② Compared the first and second cycle treatments of patients in the luteal phase long protocol group,the initiation dose of gonadotropin(Gn),total number of Gn days,total Gn usage,estradiol(E2)on the day of hCG injection,number of retrieved eggs,oocyte maturation rate,2PN fertilization rate,2PN cleavage rate,blastocyst formation rate,high-quality blas-tocyst formation rate,and moderate to severe OHSS rate were significantly higher than those in the first GnRH an-tagonist cycle(P＜0.05).The GnRH antagonist protocol group also showed similar improvements.③ The com-parison of the second COH cycle between two groups showed that the total number of Gn days,total Gn usage,and total Gn cost in the luteal phase long protocol group were significantly higher(P＜0.05),while the E2 and LH on the day of hCG injection,and the maturation rate of eggs were significantly lower than those in the GnRH antagonist protocol group(P＜0.05).However,there was no statistically significant difference in the number of retrieved eggs,2PN fertilization,2PN cleavage,blastocyst formation rate,high-quality blastocyst formation rate,and OHSS rate between the two groups;④ The comparison of fresh transplantation cycles for the second COH cycle between the two groups showed that the luteal phase long protocol fresh transplantation rate,implantation rate,clinical preg-nancy rate,and live birth rate were slightly higher than those of the GnRH antagonist protocol group,but the differ-ence was not statistically significant.Comparing the outcomes of pregnancy following the initial frozen-thawed em-bryo transfer(FET)between two groups,the biochemical pregnancy rate and clinical pregnancy rate of the GnRH antagonist protocol group were higher than those of the luteal phase long protocol group(P＜0.05).However,no significant statistical variations were found in implantation rate,live birth rate,neonatal gestational age,and birth weight.Conclusion For PCOS patients who fail the first GnRH antagonist protocol,an appropriate increase in the initiating dose and usage of Gn can achieve satisfactory pregnancy outcomes with both protocols.Compared with change to a luteal phase long protocol,reusing the GnRH antagonist protocol still maintains its long-standing advan-tages,such as shorter total Gn days,lower costs,and better patient compliance.

Objective To compare pregnancy outcomes among pregnant women undergoing cervical polypectomy during different gestational periods.Methods A total of 125 pregnant women were diagnosed with cervical polyps and underwent surgical removal.These participants were divided into the natural pregnancy group(n=71)and the in vitro fertilization and embryo transfer group(IVF-ET group,n=54).Retrospective analysis was conducted on various clinical parameters including age,gestational times,delivery times,abortion times,history of adverse preg-nancy outcomes,history of endometrial polyps,pre-polyp removal vaginal bleeding episodes,gestational age at the time of polyp removal procedure,number of polyps detected during surgery,postoperative pathology results as well as pregnancy outcomes.Results Vaginal bleeding was the most common symptom of pregnancy combined with cer-vical polyps,accounting for 111 cases(88.8％)(62 cases in the natural pregnancy group(87.32％)and 49 ca-ses in the IVF-ET group(90.74％)).Some patients had increased vaginal discharge or were found during a gyne-cological exam,accounting for 11.2％of the patients.All patients underwent cervical polypectomy during pregnan-cy,except for 9 cases of continued pregnancy(4 cases in the natural pregnancy group and 5 cases in the IVF-ET group),of which 13 had miscarriage,10 had preterm birth(6 in the natural pregnancy group and 4 in the IVF group)and 93(54 cases in natural pregnancy group,39 cases in IVF group)(74.4％)delivered at full term.Postoperative pathology was mostly inflammatory polyps(105 cases,84％),deciduous polyps(20 cases,8％)(10 cases in the natural pregnancy group and 10 cases in the IVF-ET group,14.09％and 18.52％,respective-ly).The incidence of preoperative vaginal bleeding,decidual polyp,postoperative abortion,and postoperative pre-term birth in the IVF-ET group exhibited higher rates compared to those observed in the natural pregnancy group;however,these differences did not reach statistical significance.Conclusion The cervical polypectomy procedure was performed during pregnancy for both the natural conception group and the IVF-ET group,with no significant disparity observed in pregnancy outcomes between these two cohorts.

Objective: To investigate the relationship between insulin resistance and the serum level of mesencephalic astrocyte⁃derived neurotrophic factor (MANF) in patients with polycystic ovary syndrome (PCOS) . Methods: There were 120 patients with PCOS and 40 healthy women recruited as the experimental group and the control group respectively. The serum levels of sex hormones , fasting blood glucose ( FBG) , fasting insulin ( FINS) , and MANF in the experimental group and the control group were compared. The serum MANF level of patients with or without insulin resistance in the experimental group was also compared and the relationship between homeostasis model assessment for insulin resistance (HOMA⁃IR) and the serum MANF level was analyzed. Results: Compared to the control group , the serum levels of luteinizing hormone , testosterone , androstenedione , dehydroepiandrosterone sulfate , FBG , FINS , and HOMA⁃IR in the experimental group were significantly higher (P < 0. 05) ,whereas the serum levels of follicle stimulating hormone , sex hormone binding globulin , and MANF were significantly lower (P <0. 05) . Compared to patients without insulin resistance (59 cases) , the serum MANF level of patients with insulin resistance in the experimental group (61 cases) was significantly lower (P < 0. 05) , and there was a negative correlation between the serum MANF level and HOMA⁃IR of PCOS patients in the experimental group ( P < 0. 05 ) . Conclusion MANF possibly plays an important role in the occurrence and progression of insulin resistance in PCOS patients ,which will be able to provide new approaches to the diagnosis and treatment of PCOS.

Objective : To develop a prediction model for live birth based on the basic characters of patients after transcervical resection of adhesions (TCRA) undergoing frozen⁃thawed embryo transfer (F⁃ET) . Methods : A total of 491 cycles who went F ⁃ET after TCRA were included. The cycles were randomly divided into training (n = 347) and validation (n = 144) cohorts at 7 ∶ 3 ratio. Relevant factors of live birth were selected via logistic regression analysis based on the data from patients in the training cohort. Multivariate logistic regression analysis was used to establish a nomogram , and then this predict model was calibrated and verified. Results : Age , body mass index (BMI) , miscarriages and endometrial thickness were significantly related to the live birth. The statistical nomogram was built with the area under the ROC cu2rve for the training cohort was 0. 713 (95% CI: 0. 519 - 0. 815) , Hosmer⁃Lemeshow goodness of fit test were χ = 7. 062 , P = 0. 530 , and the slope of calibration curve was close to 1. AUC of validation cohort was 0. 609 (95% CI: 0. 660 - 0. 561) , presenting a well⁃pleasing goodness⁃of⁃fit and stability in this model. Conclusion Age , BMI , miscarriages and endometrial thickness can better predict the probability of live birth undergoing F ⁃ET after TCRA.

Objective : To analyze the data related to the clinical outcome of preimplantation genetic testing (PGT) for double frozen , double biopsied blastocysts and double frozen , once biopsied blastocysts , in order to expand the existing data and provide some guidance for the clinical value and safety of PGT for frozen⁃thawed embryos . Methods : Retrospective analysis was made on the 38 PGT cycles of frozen⁃thawed blastocysts . According to the frequency of biopsy , cases in the study were divided into two groups : double frozen , double biopsy ( DFDB) group and double frozen , single biopsy ( DFSB) group . The freezing method was vitrification . Results : There were 24 patients in DFDB group , 34 blastocysts were not diagnosed in the last PGT cycle , 32 blastocysts survived after thawing , and the survival rate of thawed blastocysts was 94. 12% . After the second biopsy of these 32 blastocysts , genetic testing was performed , and all of them were definitely diagnosed , including 15 normal blastocysts (46. 88% ) and 17 abnormal blastocysts (53 . 13% ) . There were 14 patients in DFSB . The remaining 50 blastocysts in the last ICSI cycle were thawed and all blastocysts survived after thawing . Biopsy of these 50 blastocysts and genetic analysis showed that 47 blastocysts were diagnosed , including 9 normal blastocysts (18 . 00% ) , 28 abnormal blastocysts (56. 00% ) , 10 mosaic blastocysts (20. 00% ) , and 3 undiagnosed blastocysts (6. 00% ) . In DFDB group and DFSB group , 8 patients and 5 patients transferred the normal blastocystswhich all survivedafter thawing . There were 5 clinical pregnancies and 3 clinical pregnancies , respectively . One healthy live birth was obtained respectively in each group . Conclusion Acceptable pregnancy rate can be obtained whatever DFSB or DFDB blastocyst , which is of clinical value . However , due to the small sample size , we need to expand the sample size to further explore its safety .

Objective : To investigate the predictive value of serum homocysteine(HCY) level on the risk of miscarriage in polycystic ovary syndrome(PCOS) patients undergoing frozen-thawed embryo transfer(FET). Methods: 536 PCOS patients and 550 non-PCOS patients with fallopian tube factors(control group) retrospectively were analyzed.The basic characteristics and pregnancy outcomes were compared between the two groups.Also, the basic characteristics between the miscarriage group and the live birth group in PCOS patients were compared.The predictive value of Hcy on the miscarriage of PCOS patients after FET treatment was analyzed. Results: Compared with the control group, body mass index(BMI),testosterone(T),Hcy, fasting insulin(FINS),homeostasis model assessment of insulin resistance(HOMA-IR),total cholesterol(TC),number of retrieved oocytes and miscarriage rate increased in PCOS group, while high density lipoprotein-cholesterol(HDL-C),high-quality embryo rate and live birth rate decreased, and the differences were statistically significant(P<0.05).Among PCOS patients, Hcy, FINS and HOMA-IR increased in the miscarriage group compared with live birth group, and the differences were statistically significant(P<0.05).Hcy, FINS and HOMA-IR were independent risk factors for miscarriage in PCOS patients, and the predictive value of Hcy for miscarriage in PCOS patients was greater than FINS and HOMA-IR,and the area under ROC curve(AUC) was 0.829(95%CI=0.755-0.902,P<0.001),the cut-off value was 15.975 μmol/L with a 79.0% sensitivity and a 87.4% specificity, which indicated high predictive value for miscarriage in patients with PCOS. Conclusion Serum Hcy level significantly increased in PCOS patients, which has an important predictive value for miscarriage after FET treatment.

COVID-19 spreads with strong infectivity and triggered a public health crisis, home and abroad. SARS-CoV-2 has high pathogenic homology with SARS-CoV and MERS-CoV, and the three coronaviruses all belong to the Betacoronavirus family. Due to pregnant women's physical and psychological vulnerability, they are the susceptible and high-risk groups during the epidemic. This article will review the reports on adverse effects of maternal and fetal health during the SARS and MERS and COVID-19 epidemics to provide evidence for the clinical management and prevention and control of pregnant cases in SARS-CoV-2 infection.

Objective To investigate the influence of ovarian arterial blood flow index on pregnancy outcomes in patients undergoing in vitro fertilization and embryo transfer (IVF-ET).Methods Totally 136 infertile patients undergoing IVF-ET from February 2014 to April 2016 were divided into pregnant group and non-pregnant group.The monitoring through transvaginal B of two groups for chorionic gonadotropin (HCG) day and ovarian artery resistance index (RI),pulsatility index (PI) and umbilical artery diastolic flow velocity height ratio (S/D) on 2nd day of menstruation (M2) was conducted.The difference of blood flow indexes in two groups was analyzed.Results Compared with those in non-pregnant group,RI,PI and S/D in pregnant group were decreased on M2,and the difference was statistically significant (P ＜ 0.05).RI and PI were also decreased significantly on HCG day,and the difference was statistically significant (P ＜ 0.05),but S/D showed no significant changes (P ＞ 0.05).RI and PI decreased significantly on HCG day in two groups (P ＜ 0.05) when compared with those on M2,but in non-pregnant group,the comparison of S/D on HCG day showed no statistical significance (P ＞ 0.05).Conclusions There is close relationship among RI and PI of ovarian artery and ovarian reserve function.RI and PI are effective indexes to predict outcomes in IVF-ET,and provide scientific basis for the preparation and treatment for IVF-ET.