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Single-cell Sequencing Reveals Clearance of Blastula Chromosomal Mosaicism in In Vitro Fertilization Babies

Genomics, Proteomics & Bioinformatics 2022年第6期20卷 1224-1231页

作者： Yuan Gao Jinning Zhang Zhenyu Liu Shuyue Qi Xinmeng Guo Hui Wang Yanfei Cheng Shuang Tian Minyue Ma Hongmei Peng Lu Wen Fuchou Tang Yuanqing Yao Biomedical Pioneering Innovation Center School of Life SciencesPeking UniversityBeijing 100871China department of Gynaecology and Obstetrics The First Medical Center of PLA General HospitalBeijing 100853China Peking-Tsinghua Center for Life Sciences Academy for Advanced Interdisciplinary StudiesPeking UniversityBeijing 100871China Reproductive Medicine and prenatal diagnosis Center The University of Hong Kong-Shenzhen HospitalShenzhen 518053China Beijing Advanced Innovation Center for Genomics MOE Key Laboratory of Cell Proliferation and DifferentiationBeijing 100871China

Although chromosomal mosaic embryos detected by trophectoderm(TE)biopsy offer healthy embryos available for transfer,high-resolution postnatal karyotyping and chromosome testing of the transferred embryos are ***,we applied single-cell multi-omics sequencing for seven infants with blastula chromosomal mosaicism detected by TE *** chromosome ploidy was examined by single-cell genome analysis,with the cellular identity being identified by single-cell transcriptome analysis.A total of 1616 peripheral leukocytes from seven infants with embryonic chromosomal mosaicism and three control ones with euploid TE biopsy were analyzed.A small number of blood cells showed copy number alterations(CNAs)on seemingly random locations at a frequency of 0%-2.5%per ***,none of the cells showed CNAs that were the same as those of the corresponding TE *** blastula chromosomal mosaicism may be fully self-corrected,probably through the selective loss of the aneuploid cells during development,and the transferred embryos can be born as euploid infants without mosaic CNAs corresponding to the TE *** results provide a new reference for the evaluations of transferring chromosomal mosaic embryos in certain situations.

关键词： Mosaicism Pre-implantation genetic testing for aneuploidy Next-generation sequencing Single-cell multi-omics sequencing Mosaic embryo transfer

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Deamidation enables pathogenic SMAD6 variants to activate the BMP signaling pathway

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Science China(Life Sciences) 2024年第9期67卷 1915-1927页

作者： Ling Li Lei Lu Ziqi Xiao Jingyi Lv Hefeng Huang Bo Wu Tongjin Zhao Chengtao Li Weimin Wang Hongyan Wang Obstetrics and Gynecology Hospital State Key Laboratory of Genetic EngineeringInstitute of Reproduction and Developmentand Children’s HospitalFudan UniversityShanghai 200090China Shanghai Key Laboratory of Metabolic Remodeling and Health Institute of Metabolism and Integrative BiologyFudan UniversityShanghai 200438China prenatal diagnosis Center of Shenzhen Maternity&Child Healthcare Hospital Shenzhen 518028China Shanghai Medical College Fudan UniversityShanghai 200032China department of Pharmacy College of Life SciencesChina Jiliang UniversityHangzhou 310018China

The BMP signaling pathway plays a crucial role in regulating early embryonic development and tissue ***6 encodes a negative regulator of BMP,and rare variants of SMAD6 are recurrently found in individuals with birth ***,we observed that a subset of rare pathogenic variants of SMAD6 consistently exhibited positive regulatory effects instead of the initial negative effects on the BMP signaling *** sought to determine whether these SMAD6 variants have common pathogenic ***,we showed that pathogenic SMAD6 variants accompanying this functional reversal exhibit similar increases in ***,increased deamidation of SMAD6 variants promotes the accumulation of the BMP receptor BMPR1A and the formation of new complexes,both of which lead to BMP signaling pathway ***,two residues,N262 and N404,in SMAD6 were identified as the crucial sites of deamidation,which was catalyzed primarily by glutamine-fructose-6-phosphate transaminase 2(GFPT2).Additionally,treatment of cells harboring SMAD6 variants with a deamidase inhibitor restored the inhibitory effect of SMAD6 on the BMP signaling ***,when wild-type SMAD6 was manually simulated to mimic the deamidated state,the reversed function of activating BMP signaling was *** together,these findings show that deamidation of SMAD6 plays a crucial role in the functional reversal of BMP signaling activity,which can be induced by a subset of various SMAD6 *** study reveals a common pathogenic mechanism shared by these variants and provides a potential strategy for preventing birth defects through deamidation regulation,which might prevent the off-target effects of gene editing.

关键词： SMAD6 deamidation BMP signaling pathway GFPT2

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Effectiveness of Alpha-Fetoprotein Variants L2 and L3 as Substitutes of Alpha-Fetoprotein in Screening for Fetal Trisomy 18

Effectiveness of Alpha-Fetoprotein Variants L2 and L3 as Sub...

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2019长三角围产医学学术会议暨浙江省围产医学学术大会

作者： Yiming Chen Hao Wang Sha Lu Jin Mei Yixuan Yin Yanzhen Zhang Wen Zhang Jiejing Lian Min Wang Wensheng Hu department of prenatal diagnosis and screening center Hangzhou Women's Hospital (Hangzhou Maternity and Child Health Care Hospital) department of Cell Biology and Medical Genetics School of Medicine Zhejiang University

Objectives To evaluate the effectiveness of alpha-fetoprotein variants(AFP-L2, AFP-L3) for fetal screening of Trisomy 18 in place of alpha fetoprotein(AFP).Methods A case-control study, per the presence or absence of fetal Trisomy 18, was conducted. The case group included 39 pregnant women diagnosed by karyotype analysis of amniotic fluid cells as bearing Trisomy 18 fetuses. The control group was randomly selected and included 48 pregnant women with clinically normal and healthy fetal development. The serum AFP-L2 and AFP-L3 concentrations for the two groups of pregnant women were detected by enzyme-linked immunosorbent assays. Receiver operating characteristic(ROC) curves were used to determine the optimal cutoff value, area under the curve(AUC), and assess the screening performance of AFP-L2 and *** The AFP-L2 and AFP-L3 concentrations in pregnant women with Trisomy 18 fetuses were 7.95±3.57 ng/mL(6.79 ～ 9.10 ng/mL), and 2.53±1.80 ng/mL(1.94 ～ 3.11 ng/mL), respectively, which was significantly higher than those of the control group(3.73±1.63 ng/mL [3.26 ～ 4.20], t=6.820, P<0.001, and 0.84±0.60 ng/mL [0.66 ～ 1.01], t=5. 588, P<0.001, respectively). The AUC for AFP-L2 and AFP-L3 in screened Trisomy 18 fetuses was 0.848(95% CI: 0.767-0.930, P < 0.001) and 0.806(95% CI: 0.707-0.905, P < 0.001), respectively. The optimal cutoff values of AFP-L2 and AFP-L3 for Trisomy 18 fetuses were determined to be 6.340 ng/mL and 1.705 ng/mL, respectively. The corresponding sensitivity, specificity, and Youden index values were 0.615, 1.000, 0.615;0.6410, 0.958, and 0.599, respectively. Comparisons across multiple modeling methods showed that the highest AUC of screened Trisomy 18 fetuses(0.992 and 0.986) was yielded by AFP-L2 + AFP-L3 + free β-HCG, and AFP-L2 + free β-HCG, with 1.000 sensitivity indicated in both instances. By comparing the results of the two combined tests, it was shown that, when performed in parallel, the sensitivities of the four Trisomy 18 screening

关键词： pregnant women mid-pregnancy prenatal screening fetoprotein variant AFP-L2/AFP-L3 Trisomy 18. case-controlled study

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Molecular spectrum of thalassemia in tropical Hainan Island of southern China:high allele frequency with low health burden

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Journal of Genetics and Genomics 2022年第12期49卷 1162-1164页

作者： Yanquan Lai Fangchao Tao Yu Zou Min Huang Kaiting Lin Yang Li Weilun Huang Wanjun Zhou department of Eugenics Hainan Provincial Public Service Center of Prenatal and Postnatal CareHaikouHainan 570203China department of Medical Genetics School of Basic Medical SciencesSouthern Medical UniversityGuangzhouGuangdong 510515China department of Clinical Laboratory Hainan Provincial Public Service Center of Prenatal and Postnatal CareHaikouHainan 570203China Danzhou Family Planning Service Center DanzhouHainan 571799China department of Laboratory Medicine Nanfang HospitalSouthern Medical UniversityGuangzhouGuangdong 510515China

Thalassemia is the most common monogenetic disorder prevalent in tropical and subtropical *** is mainly classified into aandβ-thalassemia according to which globin chain is affected(Taher et al.,2018).Thalassemia mutations present significant genetic diversity,which causing absent(a~0 andβ~0)or reduced(a+andβ+)synthesis of globin ***,homozygotes or compound heterozygotes of different thalassemia alleles can lead to various clinical phenotypes.

关键词： thalassemia tropical allele

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Executive Editor-in-Chief’s introduction for This Special Issue

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Reproductive and Developmental Medicine 2022年第4期6卷 195-196页

作者： William Shu-Biu Yeung Shenzhen Key Laboratory of Fertility Regulation Reproductive Medicine and Prenatal Diagnosis CenterThe University of Hong Kong-Shenzhen HospitalGuangdongChina

*** Yeung is a Professor in the department of Obstetrics and Gynaecology,the University of Hong *** completed his PhD degree at the University of Hong *** did his postdoctoral training in the University of Bristol,Uni... 详细信息

关键词： Bristol doctor completed

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MAGI3 Suppresses Glioma Cell Proliferation via Upregulation of PTEN Expression

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Biomedical and Environmental Sciences 2015年第7期28卷 502-509页

作者： MA Qian ZHANG Yan MENG Ran XIE Kun Ming XIONG Ying LIN Song HE Zong Lin K. TAO Tao YANG Ying ZHAO Ji Zong HE Jun Qi department of Biochemistry and Molecular Biology Capital Medical University The Center of prenatal diagnosis First Affiliated HospitalCollege of MedicineZhengzhou Universit department of Neurosurgery Beijing Tiantan Hospital Capital Medical University China National Clinical Research Center for Neurological Diseases UC Berkeley San Francisco Core Facilities Center Capital Medical University

Objective To investigate the role and molecular mechanism of membrane-associated guanylate kinase inverted 3 （MAGI3） in glioma cell proliferation. Methods The expression levels of MAGI3 and PTEN were assessed in glioma samples by Western blotting. MAGI3 was stably transfected into C6 glioma cells to obtain C6-MAGI3 cells. Then, the proliferation, the expression levels of MAGI3 and PTEN, and Akt phosphorylation were evaluated in C6 and C6-MAGI3 cells. Xenograft tumor models were established by subcutaneous injection of C6 and C6-MAGI3 cells into nude mice, and the growth rates of xenografts in the mice were compared. The potential role of MAGI3 expression in PI3K/Akt signaling activation was further investigated by examining the correlation between MAGI3 expression and the expression of PI3K/Akt signaling downstream target genes in a glioma dataset using gene set enrichment analysis （GSEA）. Results Expression levels of MAGI3 and PTEN were significantly downregulated in gliomas. Overexpression of MAGI3 in the glioma C6 cell line upregulated PTEN protein expression, inhibited the phosphorylation of Akt, and suppressed cell proliferation. MAGI3 overexpression also inhibited the growth of C6 glioma tumor xenografts in nude mice. Analysis based on the GEO database confirmed the negative correlation between activation of PI3K/Akt pathway and MAGI3 mRNA levels in human glioma samples. Conclusion The loss of MAGI3 expression in downregulation of PTEN expression, leading potential glioma suppressor. glioma may enhance the proliferation of glioma cells via to the activation of the PI3K/Akt pathway. MAGI3 is a

关键词： Glioma PTEN MAGI3 PDZ Protein-protein interaction PI3K/Akt

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Two factors affecting the success rate of the second non-invasive prenatal screening after initial no-call result: experience from a single tertiary center in China

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Chinese Medical Journal 2021年第12期134卷 1416-1421页

作者： Ying Lin Dong Liang Hang Li Chun-Yu Luo Ping Hu Zheng-Feng Xu department of prenatal diagnosis Women's Hospital of Nanjing Medical UniversityNanjing Maternity and Child Health Care HospitalNanjingJiangsu 210004China Center of Genetic Medicine Women's Hospital of Nanjing Medical UniversityNanjing Maternity and Child Health Care HospitalNanjingJiangsu 210004China

Background:One inevitable shortcoming of non-invasive prenatal screening(NIPS)/cell-free DNA(cfDNA)sequencing is the uninterpretable(“no-call”)result,which is mainly caused by an insufficient fetal *** study was performed to investigate the factors associated with a successful second NIPS in these cases and determine the optimal management for women with initial no-call ***:We retrospectively analyzed the data of women who underwent NIPS with initial no-call results due to an insufficient fetal fraction from 2017 to 2019 in our *** compared these women's maternal and pregnancy information with the data of women who had attained a successful second NIPS result and women who had received no-call results for a second ***:Among the 33,684 women who underwent NIPS,137 with a no-call result underwent a *** between the 87(63.50%)women with a successful retest and the other 50(36.50%)women showed a significant difference in both the initial fetal fraction and maternal body mass index(BMI),whereas the other factors showed no significant *** addition,with an initial fetal fraction of<2.00%,the retest success rate was very ***:We identified two major factors associated with a successful NIPS retest:the initial fetal fraction and the maternal *** findings suggest the need for specialized management for this subset of women and would be instructional for the counseling for these women.

关键词： Non-invasive prenatal screening Cell-free DNA No-call results Maternal body mass index Initial fetal fraction

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A risk prediction model for fetal hypospadias by testing maternal serum AFP and free beta-HCG

A risk prediction model for fetal hypospadias by testing mat...

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2019浙江省妇产科医师大会及妇产科学学术年会

作者： Yiming Chen Jianxia Huang Jin Mei department of prenatal diagnosis and screening center Hangzhou Women's Hospital (Hangzhou Maternity and Child Health Care Hospital) department of Obstetrics Hangzhou Women's Hospital (Hangzhou Maternity and Child Health Care Hospital)

Objective We aimed to determine the correlation between serum alpha-fetoprotein(AFP) and the free human chorionic gonadotropin beta subunit(free beta-HCG) in pregnant women during the mid-trimester,and fetal hypospadias,and tried to establish a risk prediction *** A multi-center case-control study was *** divided the fetuses into two groups(69 with fetal hypospadias and 62 without fetal hypospadias).Time-resolved immunofluorescence was used to determine the serum levels of AFP and free *** best cut-value and area under curve(AUC) were determined based on the ROC curve,and the diagnostic value of AFP and free beta-HCG was *** The level of AFP in the study group was 1.14 MoM,which was higher than in the control group(0.96 MoM);the difference was significant(Z = 2.831,P = 0.005).Similarly,the free beta-HCG level was 1.30 MoM in the study group,and was also significantly higher than in the control group(0.84 MoM;Z = 3.131,P = 0.004).We used the AFP and free beta-HCG levels separately to predict fetuses with hypospadias,and the AUCs were 0.644(95% CI:0.550–0.737,P = 0.005) and 0.659(95% CI:0.565–0.752,P = 0.002),*** to the ROC curve,the best cut-off values for AFP and free beta-HCG were 0.945 MoM and 1.275 MoM,*** we combined the AFP level with the free beta-HCG level,the AUC was 0.700(95% CI:0.610–0.789,P < 0.001),with a sensitivity of 0.551 and a specificity of *** Combined screening for fetal hypospadias with maternal serum AFP and free beta-HCG levels during the early second trimester has high sensitivity and specificity,which can be used as a new marker.

关键词： maternal serum prenatal screening alpha-fetoprotein free human chorionic gonadotropin beta subunit hypospadias prenatal diagnosis

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Genetics Etiologies Associated with Fetal Growth Restriction

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Maternal-Fetal Medicine 2022年第3期4卷 206-209页

作者： Dayuan Shi Luyao Cai Luming Sun Shanghai Key Laboratory of Maternal Fetal Medicine Department of Fetal Medicine&Prenatal Diagnosis CenterShanghai First Maternity and Infant HospitalSchool of MedicineTongji UniversityShanghai 201204China.

Fetal growth restriction(FGR)is associated with multiple adverse perinatal outcomes,such as increased risk of intrauterine death,neonatal morbidity and mortality,and long-term adverse *** etiological factors are critical in fetuses with intrauterine growth restriction,including chromosomal abnormalities,copy number variants,single gene disorders,uniparental disomy,epigenetic changes,and confined placental *** paper aims to provide an overview of genetic defects related to FGR and to highlight the importance of prenatal genetic counseling and testing for precise diagnosis and management of FGR.

关键词： Genetics Fetal growth restriction Etiology

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A Chinese family with fragile X syndrome and atypical Becker muscular dystrophy

A Chinese family with fragile X syndrome and atypical Becker...

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第十四次全国医学遗传学学术会议

作者： Yan Tizhen Tan Jian-qiang Tang Ning Cai Ren Zeng Dingyuan Luo Shi-qiang Ya Jiaolian Pan Lizhen Li Wugao Li Zhetao Zhong Qingyan Key Laboratory of birth defects prevention and control department of Clinical Laboratory Liuzhou Municipal Maternity and Child Healthcare Hospital Center of prenatal diagnosis Liuzhou Municipal Maternity and Child Healthcare Hospital

Background:The human X chromosome carries regions prone to genomic instability:the Xq27.3 unstable region,containing the(CGG)n repeat expansion in the FMR1gene is associated with fragile X syndrome;and rearrangements in the Xp21.2 region are associated with Duchenne or Becker muscular dystrophies(DMD or BMD).Methods:The family was analyzed by polymerase chain reaction,multiplex ligation—dependent probe amplification(MLPA),PCR-CE microfluidic DNA analysis system and haplotype ***:We report on a Chinese family with two affected boys,the elder diagnosed with fragile X syndrome and atypical Duchenne or Becker muscular dystrophy,the younger with fragile X *** mother proved to be an asymptomatic carrier of the two non-contiguous mutation events,involving the FMR1gene(CGG)n repeat expansion and the DMD gene ***:To the best of our knowledge,this is the rare description of an asymptomatic carrier of two different X-linked disorders,involving severe genetic rearrangements on both long and short arms of the X *** boy with fragile X syndrome has inherited a second recombinant maternal X chromosome,this way inheriting the FMR1 expansion,originating most probably from different maternal Xes and excluding the DMD gene *** transmission of these extremely defective maternal chromosomes to the next generation involved several recombinations.

关键词： Fragile X syndrome Duchenne muscular dystrophy FMR1 gene DMD gene Chromosome aberrations

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