Objective:To report the recurrent spontaneous abortion that were caused by the mother's chromosomal rearrangement which was 18 chromosome inversion;and cytogenetic analysis of the fetal amniotic fluid was performe...Objective:To report the recurrent spontaneous abortion that were caused by the mother's chromosomal rearrangement which was 18 chromosome inversion;and cytogenetic analysis of the fetal amniotic fluid was performed.Methods: Traditional chromosome karyotype and whole-genome sequencing(WGS) was used to process karyotyping and genomic microdeletion and microduplication analysis.Results: the result of fetal amniotic fluid chromosome karyotype is 46,XY,rec(18),dup(18)(q12.3q23);his mother's chromosome karyotype is 46,XX,inv(18)(P11.3q12);and his father's chromosome karyotype is normal.Conclusions:A male newborn with partial trisomy 18q variation was detected in a fetus whose mother with abnormal pregnancy history, that was combined with traditional chromosome karyotype and WGS. The WGS technology has an important clinical value in the prevention of fetal birth defects of abnormal pregnancy history family in prenatal diagnosis.展开更多
Objective: To analyze the frequency and spectrum of thalassemia mutations in amniotic fluid samples collected from Han and Li people in Hainan province of China.Methods: We carried out a retrospective analysis on pren...Objective: To analyze the frequency and spectrum of thalassemia mutations in amniotic fluid samples collected from Han and Li people in Hainan province of China.Methods: We carried out a retrospective analysis on prenatal diagnosis of amniotic fluid samples collected from pregnant women who may have next generation with high risks of medium or severe thalassemia between 2005 and 2016. Diverse fetal thalassemia genotypes and mutated alleles in Han and Li people were analyzed and cmpared. Results: We examined 536 amniotic fluid samples from Han people and 588 from Li people, among which 406 Han and 500 Li samples were found to carry at least one thalassemia gene mutation, with a detection rate of 75.75% and 85.03%, respectively. Among all α-and β-thalassemia mutant alleles detected, the most frequently found mutations in Han and Li samples were SEA-type of α-thalassemia and 41/42(–CTTT) of β-thalassemia, respectively. A total of 75 severe thalassemia cases were identified in Han samples and 53 in Li samples. In most of these severe cases, parents chose to terminate pregnancy after being informed of thalassemia-related risks. Conclusions: The thalassemia mutations shows ethnic and area specificity, and that prenatal diagnosis for high-risk thalassemia carrier pregnant women is an efficient approach to prevent and control the occurrence of severe thalassemia in the high-prevalence areas.展开更多
Objective:To compare the expression levels of pluripotent genes among incomplete reprogrammed colonies and induced pluripotent stem cells(iPSCs),to explore the relationship between the expression of pluripotent genes ...Objective:To compare the expression levels of pluripotent genes among incomplete reprogrammed colonies and induced pluripotent stem cells(iPSCs),to explore the relationship between the expression of pluripotent genes and incomplete reprogramming.Methods:four genes(Oct4,Sox2,Klf4,C-Myc) were introduced into human foreskin fibroblasts(HFFs) by retroviruses.The HFFs were induced to reprogramming.Different forms of colonies were picked up,analyzed,and compared with iPSCs from different aspects,including the morphology of clones,alkaline phosphatase(AP) staining,immuno-fluorescence,and Q-PCR.Results:In the reprogramming process,different colonies were emerged,some of them exhibited typical human embryonic stem cell morphology(eg.,compact colonies,high nucleus-to-cytoplasm ratios,and prominent nucleoli).However,these colonies couldn't maintain these characters after passage.There was an intermediate state,named partially reprogramming.Through analysis and identification,AP staining results were weakly positive,compared with iPSC colonies.The immuno-fluorescence staining demonstrated these colonies just expressed pluripotent protein Oct4.Q-PCR indicated that the expression of exogenous transcription factors was inappropriate,either at a high level or at a low level.Most of the endogenous pluripotency genes were expressed at a low level.Conclusions:It may be one of the causes of incomplete reprogramming that the exogenous pluripotent gene is low-expressed or over-expressed,and successful reprogramming may depend on a specific stoichiometric balance of Oct4,Sox2,Klf4 and c-Myc.展开更多
Preeclampsia is a disease that occurs during pregnancy.Its pathogenesis is not clear.The delivery of placenta and fetus can effectively relieve symptoms.Trophoblast cells are the main cell components of placenta.The n...Preeclampsia is a disease that occurs during pregnancy.Its pathogenesis is not clear.The delivery of placenta and fetus can effectively relieve symptoms.Trophoblast cells are the main cell components of placenta.The normal development of placenta depends on the normal differentiation,proliferation,migration and invasion of trophoblast cells.microRNA is a class of small non-coding RNA that are differentially expressed in PE patients and participate in the occurrence of PE by regulating the function of trophoblast cells.microRNA are expected to be early predictive markers of preeclampsia and provide new insights into the pathogenesis and treatment of PE.展开更多
Objective:To investigate the incidence of neonatal birth defects in assisted reproductive technology(ART)by in vitro fertilization(IVF)and intracytoplasmic sperm injection(ICSI).Methods:The clinical data of 4229 cases...Objective:To investigate the incidence of neonatal birth defects in assisted reproductive technology(ART)by in vitro fertilization(IVF)and intracytoplasmic sperm injection(ICSI).Methods:The clinical data of 4229 cases of singleton deliver by infertile patients under 35 years old who received IVF/ICSI-ET in our center were analyzed.According to different fertilization methods,they were divided into IVF group(2967 cases)and ICSI group(1262 cases).The general situation of birth,birth defects and the location of defects were compared between the two groups.Results:a total of 38 cases of neonatal birth defects were found,the incidence of birth defects was 0.89%,including 30 cases(1.01%)in IVF group and 8 cases(0.64%)in ICSI group.There was no significant difference in the incidence of birth defects between the two groups(P>0.05).There was also no significant difference in birth weight,gestational age and gender ratio between the two groups(P>0.05).Conclusion:Different fertilization methods in assisted reproductive technology do not increase the incidence of neonatal birth defects.展开更多
基金Major Science and Technology Program of Hainan Province(No.ZDKJ2017007)National Natural Science Foundation of China(No.81660433,81460034,81460236)+1 种基金National Special Project for International Science and Technology Cooperation(No.2014DFA30180)2018 Natural Science Foundation of Hainan Youth Fund Project(No.818QN315).
文摘Objective:To report the recurrent spontaneous abortion that were caused by the mother's chromosomal rearrangement which was 18 chromosome inversion;and cytogenetic analysis of the fetal amniotic fluid was performed.Methods: Traditional chromosome karyotype and whole-genome sequencing(WGS) was used to process karyotyping and genomic microdeletion and microduplication analysis.Results: the result of fetal amniotic fluid chromosome karyotype is 46,XY,rec(18),dup(18)(q12.3q23);his mother's chromosome karyotype is 46,XX,inv(18)(P11.3q12);and his father's chromosome karyotype is normal.Conclusions:A male newborn with partial trisomy 18q variation was detected in a fetus whose mother with abnormal pregnancy history, that was combined with traditional chromosome karyotype and WGS. The WGS technology has an important clinical value in the prevention of fetal birth defects of abnormal pregnancy history family in prenatal diagnosis.
基金supported by Major Science and Technology Program of Hainan Province(No.ZDKJ2017007)International Science&Technology Cooperation Program of China(No.2014DFA30180)+2 种基金Hainan Provincial Natural Science Foundation of China(No.2019CXTD408)National Natural Science Foundation of China(No.81060016,31140021,81260032,81460034,81660433)Hainan Provincial Science and Technology Department(No.YJJC20120007,2012-GH009,ZDZX2013003 and KJHZ2014-11).
文摘Objective: To analyze the frequency and spectrum of thalassemia mutations in amniotic fluid samples collected from Han and Li people in Hainan province of China.Methods: We carried out a retrospective analysis on prenatal diagnosis of amniotic fluid samples collected from pregnant women who may have next generation with high risks of medium or severe thalassemia between 2005 and 2016. Diverse fetal thalassemia genotypes and mutated alleles in Han and Li people were analyzed and cmpared. Results: We examined 536 amniotic fluid samples from Han people and 588 from Li people, among which 406 Han and 500 Li samples were found to carry at least one thalassemia gene mutation, with a detection rate of 75.75% and 85.03%, respectively. Among all α-and β-thalassemia mutant alleles detected, the most frequently found mutations in Han and Li samples were SEA-type of α-thalassemia and 41/42(–CTTT) of β-thalassemia, respectively. A total of 75 severe thalassemia cases were identified in Han samples and 53 in Li samples. In most of these severe cases, parents chose to terminate pregnancy after being informed of thalassemia-related risks. Conclusions: The thalassemia mutations shows ethnic and area specificity, and that prenatal diagnosis for high-risk thalassemia carrier pregnant women is an efficient approach to prevent and control the occurrence of severe thalassemia in the high-prevalence areas.
基金The 973 program of Ministry of Science and Technology of China(No.2012CB966502)The Key International Cooperation Program of Science and Technology Department of Hainan Province(No.GJXM201106,KJHZ2014-11)MOST of China(No.2014DFA30180)
文摘Objective:To compare the expression levels of pluripotent genes among incomplete reprogrammed colonies and induced pluripotent stem cells(iPSCs),to explore the relationship between the expression of pluripotent genes and incomplete reprogramming.Methods:four genes(Oct4,Sox2,Klf4,C-Myc) were introduced into human foreskin fibroblasts(HFFs) by retroviruses.The HFFs were induced to reprogramming.Different forms of colonies were picked up,analyzed,and compared with iPSCs from different aspects,including the morphology of clones,alkaline phosphatase(AP) staining,immuno-fluorescence,and Q-PCR.Results:In the reprogramming process,different colonies were emerged,some of them exhibited typical human embryonic stem cell morphology(eg.,compact colonies,high nucleus-to-cytoplasm ratios,and prominent nucleoli).However,these colonies couldn't maintain these characters after passage.There was an intermediate state,named partially reprogramming.Through analysis and identification,AP staining results were weakly positive,compared with iPSC colonies.The immuno-fluorescence staining demonstrated these colonies just expressed pluripotent protein Oct4.Q-PCR indicated that the expression of exogenous transcription factors was inappropriate,either at a high level or at a low level.Most of the endogenous pluripotency genes were expressed at a low level.Conclusions:It may be one of the causes of incomplete reprogramming that the exogenous pluripotent gene is low-expressed or over-expressed,and successful reprogramming may depend on a specific stoichiometric balance of Oct4,Sox2,Klf4 and c-Myc.
基金Major Science and Technology Program of Hainan Province(No.ZDKJ2017007)Hainan Provincial Natural Science Foundation of China(No.2019CXTD408)National Natural Science Foundation of China(No.81460034,81660433,81960283)。
文摘Preeclampsia is a disease that occurs during pregnancy.Its pathogenesis is not clear.The delivery of placenta and fetus can effectively relieve symptoms.Trophoblast cells are the main cell components of placenta.The normal development of placenta depends on the normal differentiation,proliferation,migration and invasion of trophoblast cells.microRNA is a class of small non-coding RNA that are differentially expressed in PE patients and participate in the occurrence of PE by regulating the function of trophoblast cells.microRNA are expected to be early predictive markers of preeclampsia and provide new insights into the pathogenesis and treatment of PE.
基金Major Science and Technology Project of Hainan Province(No.ZDKJ2017007)Key Research and Development Project of Hainan Provincial Science and Technology Department(No.ZDYF2019158)Scientific Research Project of Health and Family Planning Industry in Hainan Province(No.19A200124)。
文摘Objective:To investigate the incidence of neonatal birth defects in assisted reproductive technology(ART)by in vitro fertilization(IVF)and intracytoplasmic sperm injection(ICSI).Methods:The clinical data of 4229 cases of singleton deliver by infertile patients under 35 years old who received IVF/ICSI-ET in our center were analyzed.According to different fertilization methods,they were divided into IVF group(2967 cases)and ICSI group(1262 cases).The general situation of birth,birth defects and the location of defects were compared between the two groups.Results:a total of 38 cases of neonatal birth defects were found,the incidence of birth defects was 0.89%,including 30 cases(1.01%)in IVF group and 8 cases(0.64%)in ICSI group.There was no significant difference in the incidence of birth defects between the two groups(P>0.05).There was also no significant difference in birth weight,gestational age and gender ratio between the two groups(P>0.05).Conclusion:Different fertilization methods in assisted reproductive technology do not increase the incidence of neonatal birth defects.
