BACKGROUND Familial Turner syndrome (TS) is an uncommon sex chromosome abnormality, typically characterized by the transmission of identical X-chromosomal aberrations (eg, partial or complete deletions) within a lineage. The occurrence of familial TS involving distinct karyotypes within the same generation is exceptionally rare and presents unique challenges for genetic counseling and mechanistic understanding. CASE REPORT Two cousins (aged 20 and 28) from a nonconsanguineous family presented with primary amenorrhea, hypergonadotropic hypogonadism, and short stature. Despite striking phenotypic convergence, karyotyping demonstrated 46,X,i(X)(q10) in the proband (III-17) and 45,X in the cousin (III-13). Pelvic ultrasonography showed absent or underdeveloped internal genital organs and gonadal dysgenesis in both patients. Systematic cardiac and renal screening revealed no structural abnormalities. Whole-exome sequencing and copy number variation analysis performed on 11 relatives (including both patients) ruled out pathogenic variants in known TS-associated loci under American College of Medical Genetics and Genomics 2015/2019 criteria; low-level or tissue-restricted mosaicism could not be definitively excluded. A structured literature review was conducted to compare previously reported familial TS patterns. CONCLUSIONS This report documents a rare instance of intrafamilial phenotypic uniformity despite genotypic heterogeneity. The findings support the hypothesis that functional haploinsufficiency of the X-chromosome short arm (Xp) acts as the convergent pathogenic mechanism for the core TS phenotype, regardless of the specific chromosomal error. Clinicians should recognize that familial clustering can occur via distinct cytogenetic mechanisms, requiring broad prenatal screening rather than targeted testing for recurrence, along with careful counseling regarding the uncertainties of heritability versus coincidental de novo events.

Background:Sperm DNA fragmentation index (SDF) is a key biomarker for male infertility; however, traditional SDF measurements include non-viable sperm, reducing clinical relevance. The viable SDF may provide greater diagnostic accuracy. This study aimed to explore the potential of viable SDF cutoff and assessed its predictive value for male fertility. Methods:This cross-sectional study enrolled men undergoing reproductive evaluation at a tertiary reproductive medical center. Semen analysis followed the World Health Organization (WHO) 5th edition guidelines. Total and viable SDF were measured using the sperm chromatin structure assay, with viability assessed using Far Red staining. Spearman's correlation analysis examined relationships between viable SDF, total SDF, and standard semen parameters. Using the 25% total SDF cutoff, patients were grouped into high (≥25%, n=96) and low (<25%, n=131) categories. Receiver operating characteristic (ROC) curve analysis identified the optimal viable SDF cutoff. Multivariate logistic regression analysis determined independent influencing factors for viable SDF, and ROC curves assessed model performance. Results:A total of 227 men undergoing male reproductive evaluation were included in the study. The mean total and viable SDF were 21.89%±14.95% and 10.31%±12.21%, respectively. Viable SDF showed significant negative correlations with progressive and total motility and a strong positive correlation with total SDF. ROC analysis identified a viable SDF cutoff of 9.79% [area under the curve (AUC) =0.813; sensitivity =76%, specificity =66%]. Significant discrepancies were observed between groupings based on total and viable SDF thresholds. Notably, 23 men with total SDF ≥25% had viable SDF <9.79%, whereas 44 with total SDF <25% had viable SDF >9.79%. A clinical cutoff of 9.79% for viable SDF shows superior diagnostic performance over total SDF. Conclusions:Viable SDF provides a more accurate assessment of clinically relevant (functional) sperm DNA damage because it evaluates DNA fragmentation specifically in membrane-intact, fertilization-competent sperm, rather than in the total sperm population.

IntroductionThe microbial composition of human breast milk and infant meconium offers critical insights into the early microbial colonization profile, and it greatly contributes to the infant’s immune system and long-term health outcomes. However, analyzing these samples often faces technical challenges and limitations of low-resolution using conventional approaches due to their low microbial biomass.MethodsHere, we employed the type IIB restriction enzymes site-associated DNA sequencing for microbiome (2bRAD-M) as a reduced metagenomics method to address these issues and profile species-level microbial composition. We collected breast milk samples, maternal feces, and infant meconium, comparing the results from 2bRAD-M with those from both commonly used 16S rRNA amplicon sequencing and the gold-standard whole metagenomics sequencing (WMS).ResultsThe accuracy and robustness of 2bRAD-M were demonstrated through its consistently high correlation of microbial individual abundance and low whole-community-level distance with the paired WMS samples. Moreover, 2bRAD-M enabled us to identify clinical variables associated with infant microbiota variations and significant changes in microbial diversity across different lactation stages of breast milk.DiscussionThis study underscores the importance of employing 2bRAD-M in future large-scale and longitudinal studies on maternal and infant microbiomes, thereby enhancing our understanding of microbial colonization in early life stages and demonstrating further translational potential.

OBJECTIVE:This study investigates the association between alobar holoprosencephaly (HPE) and de novo germline microdeletions in the Xq25 region. To develop a Preimplantation Genetic Testing for Monogenic Disorders (PGT-M) based workflow enabling high-resolution preimplantation detection of sub-Mb microdeletions, overcoming the >1 Mb resolution limit of conventional whole genome amplification(WGA) copy number variation(CNV) sequencing to identify causative Xq25 variants and prevent pathogenic microdeletion transmission. METHODS:This study presents a clinical case involving a couple with an adverse obstetric history accompanied by two occurrences of HPE. Genetic analysis and counseling were performed, followed by haplotype analysis and PGT-M as interventions. The Mutated Allele Revealed by Sequencing with Aneuploidy and Linkage Analyses (MARSALA) technique was utilized as a simple, efficient, and reliable approach for PGT-M. PRIMARY AND SECONDARY OUTCOME MEASURES:The primary outcomes were the detection of chromosome microdeletions and the successful selection of embryos lacking Xq25 fragment microdeletions. Pregnancy outcomes, embryo development, and genetic counseling results served as secondary outcomes. We analyzed conception products using chromosome microarray analysis and performed single-nucleotide polymorphism haplotype linkage analysis on biopsy tissues amplified by WGA prior to sequencing. Chromosome abnormalities with microdeletions were identified using the PGT-M-based workflow. Embryo euploidy status was assessed using high-depth copy number variation sequencing. RESULTS:Among five tested blastocysts, three were euploid (two carrying a maternal mutation and one non-mutant.). Following implantation of the mutation-free euploid blastocyst, a successful pregnancy was achieved. Chromosomal karyotype and chromosome microarray analysis (CMA) analysis of mid-pregnancy amniotic fluid showed normal chromosomes and genetic content, leading to the birth of a healthy, full-term infant. CONCLUSIONS:This study underscores the necessity of maintaining detailed obstetric records, providing genetic counseling, and preserving nonviable fetal genetic material. By integrating the MARSALA technique with selected genetic marker-based SNP linkage analysis under the framework of PGT-M, this study established a method enabling single-cell-level preimplantation diagnosis of various chromosomal microabnormalities.

Objective. This study aimed to evaluate the effect of a novel intrauterine infusion of autologous platelet-rich plasma (PRP) on endometrial condition and clinical outcomes in patients with thin endometrium undergoing frozen-thawed embryo transfer (FET) cycles. Methods. A prospective randomized controlled trial was conducted with 70 patients diagnosed with thin endometrium at the Reproductive Medicine Center of Shenzhen Maternal and Child Health Hospital from January 2022 to June 2023. The patients were randomly divided into two groups: a single PRP infusion group and a PRP combined with endometrial microstimulation (EM+PRP) group. Endometrial thickness and classification were assessed before and after treatment. Clinical outcomes, including human chorionic gonadotropin (HCG) positivity rate, embryo implantation rate, clinical pregnancy rate, and early miscarriage rate, were analyzed. Results. Baseline characteristics, including pre-treatment endometrial thickness, were comparable between groups. Both groups showed a significant increase in endometrial thickness after treatment (P<0.05). The EM+PRP group exhibited a greater improvement in post-treatment endometrial thickness compared to the single PRP group (P<0.05). Endometrial morphology showed improvement in both groups, but the difference was not statistically significant (P>0.05). No significant differences were found between the two groups in terms of HCG positivity rate, embryo implantation rate, clinical pregnancy rate, or early miscarriage rate. Conclusion. Both EM+PRP and single PRP intrauterine infusion effectively increased endometrial thickness and improved clinical outcomes in patients with thin endometrium. The combined EM+PRP therapy showed potential for greater efficacy in improving endometrial condition, warranting further research in larger, multicenter studies.

BackgroundCryopreservation of human ovarian tissue is a technology for patients undergoing aggressive anticancer treatments. This technology includes the following stages: saturation by permeable cryoprotectants, freezing, thawing, removal of cryoprotectants, as well as tissues in vitro or in situ culture.ObjectiveEvaluation of quality of tissue after cryopreservation and in vitro culture with the aim of detection of genetic and molecular changes in cells.MethodsOvarian tissue was frozen in 6% ethylene glycol and 6% dimethyl sulfoxide with speed of cooling 0.3°C/min and thawed at 100°C. After removal of cryoprotectants tissue fragments were in vitro cultured with the soluble extract of basement membrane protein (Matrigel) 3-D culture system for 7 days. Morphological and functional assessments were conducted using microscopic observation and RNA-Sequencing. Comparative analysis of tissue morphology before and after culture was performed with bioinformatics for gene expression and variant analysis, including functional annotation and study of protein-protein interaction.ResultsDNA and RNA analyses after cultivation indicated a rise in gene fusion and alternative splicing events, potentially affecting gene expression and cellular functions.ConclusionLong-time in vitro culture of human ovarian tissue results in substantial changes in its morphology and genetic alteration.

Intrauterine adhesions (IUAs), the most common disorders of endometrial injury with incompletely understood etiology, profoundly disrupt female reproductive health. In severe cases, IUAs lead to a postoperative adhesion recurrence rate of 62.5% and a low pregnancy rate of 33.3%. Trauma and infection are recognized as major risk factors. Animal models facilitate a better understanding of the mechanisms underlying this complex disease. Here, we describe a cost-effective rat model mimicking human IUA pathogenesis through dual injury: mechanical endometrial curettage and infection. First, the endometrium was scraped ~30x in each direction (front, back, left, and right) with a curette. Second, a cotton suture impregnated with 6 mg/L lipopolysaccharide was placed in the uterine cavity for 48 h to induce inflammatory damage. Histological changes were evaluated at 7 and 14 days post surgery. Macroscopic examination revealed uterine atrophy and loss of elasticity, while histological analysis showed thinning or absence of the endometrium, decreased glandular number, narrowing or obliteration of the uterine cavity, and increased area of fibrosis. This dual-injury approach efficiently establishes a stable rat IUA model by day 14, recapitulating key clinical and pathological hallmarks of human IUAs.

Background: Meckel-Gruber syndrome (MKS) is a perinatally lethal, genetically heterogeneous, autosomal recessive condition caused by defective primary cilium formation. So far, the association of TXNDC15-related MKS has been reported in only five independent families from diverse ethnic origins, including Saudi, Pakistani, Estonian, and Indian. Here, we report a fetus diagnosed with MKS at 12 weeks, exhibiting typical ultrasound findings.Methods: Low-coverage whole-genome sequencing was used to identify chromosomal abnormalities. Trio-base whole exome sequencing (trio-WES) was performed to investigate the potential pathogenic variants associated with MKS. Preimplantation genetic testing for monogenic disorders (PGT-M) was applied to prevent the transmission of the pathogenic variant.Results: A novel homozygous pathogenic variant in the TXNDC15 gene was identified through trio-WES. The application of PGT-M successfully prevented the transmission of the pathogenic variant and resulted in an ongoing pregnancy.Conclusion: This is the first report of a TXNDC15 variant in the Chinese population and the first PGT case of TXNDC15-related MKS worldwide. The successful application of PGT-M in this family provides a potential approach for other monogenic diseases. Our case expands the variant spectrum of TXNDC15 and contributes to the molecular diagnosis and genetic counseling for MKS. This case underscores the importance of appropriate genetic testing methods and accurate genetic counseling in the diagnosis of rare monogenic diseases.

Metabolites are key indicators of health and therapeutic targets, but their genetic underpinnings during pregnancy-a critical period for human reproduction-are largely unexplored. Using genetic data from non-invasive prenatal testing, we performed a genome-wide association study on 84 metabolites, including 37 amino acids, 24 elements, 13 hormones, and 10 vitamins, involving 34,394 pregnant Chinese women, with sample sizes ranging from 6,394 to 13,392 for specific metabolites. We identified 53 metabolite-gene associations, 23 of which are novel. Significant differences in genetic effects between pregnant and non-pregnant women were observed for 16.7%-100% of these associations, indicating gene-environment interactions. Additionally, 50.94% of genetic associations exhibited pleiotropy among metabolites and between six metabolites and eight pregnancy phenotypes. Mendelian randomization revealed potential causal relationships between seven maternal metabolites and 15 human traits and diseases. These findings provide new insights into the genetic basis of maternal plasma metabolites during pregnancy.

Despite the clear clinical diagnostic criteria for necrozoospermia in andrology, the fundamental mechanisms underlying it remain elusive. This study aims to profile the lipid composition in seminal plasma systematically and to ascertain the potential of lipid biomarkers in the accurate diagnosis of necrozoospermia. It also evaluates the efficacy of a lipidomics-based random forest algorithm model in identifying necrozoospermia. Seminal plasma samples were collected from patients diagnosed with necrozoospermia (n = 28) and normozoospermia (n = 28). Liquid chromatography–mass spectrometry (LC–MS) was used to perform lipidomic analysis and identify the underlying biomarkers. A lipid functional enrichment analysis was conducted using the LION lipid ontology database. The top 100 differentially significant lipids were subjected to lipid biomarker examination through random forest machine learning model. Lipidomic analysis identified 46 lipid classes comprising 1267 lipid metabolites in seminal plasma. The top five enriched lipid functions as follows: fatty acid (FA) with ≤ 18 carbons, FA with 16–18 carbons, monounsaturated FA, FA with 18 carbons, and FA with 16 carbons. The top 100 differentially significant lipids were subjected to machine learning analysis and identified 20 feature lipids. The random forest model identified lipids with an area under the curve > 0.8, including LPE(20:4) and TG(4:0_14:1_16:0). LPE(20:4) and TG(4:0_14:1_16:0), were identified as differential lipids for necrozoospermia. Seminal plasma lipidomic analysis could provide valuable biochemical information for the diagnosis of necrozoospermia, and its combination with conventional sperm analysis may improve the accuracy and reliability of the diagnosis.

AIM:This study evaluated the connection of periodontal status with the leukocyte profiles of maternal peripheral blood (MPB) and umbilical cord blood (UCB). MATERIALS AND METHODS:Ninety-nine pregnant females were recruited, and their data were collected via questionnaire and from medical records, including demographics, systemic conditions, complete blood count (CBC) and C-reaction protein (CRP) level in MPB. Full-mouth periodontal assessment was performed. CBC and CRP levels in UCB were measured after parturition. RESULTS:All subjects and their neonates were generally healthy. 30.3% of the participants presented with periodontal health condition, whereas 69.7% had different severities of periodontal diseases. The counts/percentages of eosinophils and monocytes in UCB from the subjects with periodontal diseases elevated, and the percentage of neutrophils decreased referencing to that from the counterparts (p < 0.05). There were positive correlations for total leukocyte count, neutrophils and lymphocytes counts/percentages in MPB and UCB among the periodontally healthy subjects (r > 0.4, p < 0.05), but such findings did not exist in those with periodontal diseases. Moreover, periodontal diseases independently accounted for the counts/percentages of neutrophils and eosinophils in UCB after controlling confounders in four testing models (ANCOVA, p < 0.05). CONCLUSION:Maternal periodontal diseases could to some extent disturb the leukocyte profiles of umbilical cord blood.

BackgroundPeriodontitis results from host-microbe dysbiosis and the resultant dysregulated immunoinflammatory response. Importantly, it closely links to numerous systemic comorbidities, and perplexingly contributes to adverse pregnancy outcomes (APOs). Currently, there are limited studies on the distal consequences of periodontitis via oral-gut axis in pregnant women. This study investigated the integrative microbiome-metabolome profiles through multi-omics approaches in first-trimester pregnant women and explored the translational potentials.MethodsWe collected samples of subgingival plaques, saliva, sera and stool from 54 Chinese pregnant women at the first trimester, including 31 maternal periodontitis (Perio) subjects and 23 Non-Perio controls. By integrating 16S rRNA sequencing, untargeted metabolomics and clinical traits, we explored the oral-gut microbial and metabolic connection resulting from periodontitis among early pregnant women.ResultsWe demonstrated a novel bacterial distinguisher Coprococcus from feces of periodontitis subjects in association with subgingival periodontopathogens, being different from other fecal genera in Lachnospiraceae family. The ratio of fecal Coprococcus to Lachnoclostridium could discriminate between Perio and Non-Perio groups as the ratio of subgingival Porphyromonas to Rothia did. Furthermore, there were differentially abundant fecal metabolic features pivotally enriched in periodontitis subjects like L-urobilin and kynurenic acid. We revealed a periodontitis-oriented integrative network cluster, which was centered with fecal Coprococcus and L-urobilin as well as serum triglyceride.ConclusionsThe current findings about the notable influence of periodontitis on fecal microbiota and metabolites in first-trimester pregnant women via oral-gut axis signify the importance and translational implications of preconceptional oral/periodontal healthcare for enhancing maternal wellbeing.

Objective This cross-sectional study investigated the association of periodontitis with the metabolic status and hepatic function in pregnant women. Materials and Methods Full-mouth periodontal conditions, metabolic profiles, and hepatic function were assessed in 219 self-reported healthy pregnant females. The association of periodontal status with the systemic parameters was evaluated by parametric and non-parametric tests, and multivariate logistic regression analysis. Results Overall, periodontal status was positively associated with the metabolic profiles and hepatic function test results. The subjects with periodontitis exhibited higher levels of body mass index (BMI) (p < 0.01) and serum aspartate transaminase (AST) (p < 0.05), elevated diastolic blood pressure (DBP) (p < 0.05), and lower levels of high-density lipoprotein cholesterol (p < 0.05) than those of the counterparts. The periodontitis severity was strongly correlated with BMI and AST levels, and the extent of periodontal inflammation was related to DBP (p < 0.01). The periodontitis patients at 34-36 gestational weeks showed higher blood pressure and AST levels than those of non-periodontitis subjects (p < 0.05). Conclusion Our findings on the notable links of periodontitis to concurrent metabolic disorders and abnormal liver function in pregnant women highlight the need of proactive integration of regular periodontal screening and healthcare in maternal programs for promoting optimal health and wellbeing of mothers-to-be and newborns.

Objective: It is evident that periodontitis is linked to various adverse pregnancy outcomes. This prospective study explored the potential link of maternal periodontal diseases to neonatal adverse outcomes. Materials and Methods: A total of 193 generally healthy females in their third trimester (34–36 weeks) of pregnancy were enrolled. All subjects received full-mouth periodontal assessment, and the periodontal inflamed surface area (PISA) was calculated. Demographic data, lifestyles and anthropometric measurements of the neonates (e.g., body length and head circumference) were recorded. Herein, small-for-gestational age (SGA) referred to gender- and age-adjusted birth weight below the 10th percentile in line with the standard reference. Multivariable logistic regression analysis and restricted cubic spline were performed for examining the association of periodontal parameters with SGA. Results: There were 8.3% (16/193) of neonates with SGA. Significantly positive correlation existed between the percentage of tooth sites with increased probing depth and an elevated risk of SGA (OR: 1.052; P < 0.05). Yet, the PISA was positively associated with the risk of SGA (OR: 1.002; P < 0.05) as well. No significant link occurred between maternal periodontal status and other neonatal outcome measures. Conclusion: Within the limitations of this study, the findings suggest that there could be a link between maternal periodontal diseases and neonatal adverse outcomes like SGA. Further investigation is required to clarify the current findings and potential implications for promoting maternal oral/periodontal health and newborn health.

Abstract Background Polycystic ovary syndrome (PCOS) and periodontitis significantly affect women’s oral and systemic health worldwide, and yet increase the risk of cardiovascular-metabolic diseases like diabetes and coronary heart disease. Regarding the PCOS-periodontitis connection, whether sex hormones, metabolic and inflammatory mediators could account for the underlying linking mechanism needs to be further investigated. This case–control study evaluated the hormonal, metabolic and inflammatory profiles in PCOS and non-PCOS subjects with various periodontal conditions, via assessing serum and saliva samples by Raman spectroscopy. Methods A total of 66 females with PCOS and 22 systemically healthy female volunteers were recruited in a single hospital. Full-mouth periodontal examination was undertaken for identifying the subjects with periodontal health, gingivitis or periodontitis. The datasets of sex hormones and metabolic indicators were retrieved from the hospital information system. Both serum and saliva samples were collected for detecting inflammatory mediators and Raman spectroscopic assessment. The subjects were categorized into four groups according to their conditions of PCOS and periodontitis for Raman spectroscopic analysis. Partial least squares discriminant analysis was performed to examine the inter-group differences in Raman spectra. Results PCOS patients exhibited greater mean probing depth (P < 0.05) and higher serum levels of triglycerides (P < 0.05) and matrix metalloproteinase-8 (P < 0.05) than those in non-PCOS participants. Both probing depth and triglyceride level were positively correlated with PCOS (P < 0.05). There was a significant difference in mean Raman spectra of saliva samples among the four groups with different conditions of PCOS and periodontitis (P < 0.05), while no significant inter-group difference existed in serum samples. Conclusions The present study shows that periodontal condition may affect the biomolecular profiles of Raman spectra in serum and saliva of PCOS patients. It underscores the importance of the collaborative teamwork of dentists and gynecologists for enhancing women’s oral health, general wellbeing and quality of life.

Background Aicardi–Goutières syndrome (AGS) is a rare, autosomal recessive, hereditary neurodegenerative disorder. It is characterized mainly by early onset progressive encephalopathy, concomitant with an increase in interferon-α levels in the cerebrospinal fluid. Preimplantation genetic testing (PGT) is a procedure that could be used to choose unaffected embryos for transfer after analysis of biopsied cells, which prevents at-risk couples from facing the risk of pregnancy termination. Methods Trio-based whole exome sequencing, karyotyping and chromosomal microarray analysis were used to determine the pathogenic mutations for the family. To block the inheritance of the disease, multiple annealing and looping-based amplification cycles was used for whole genome amplification of the biopsied trophectoderm cells. Sanger sequencing and next-generation sequencing (NGS)-based single nucleotide polymorphism (SNP) haplotyping were used to detect the state of the gene mutations. Copy number variation (CNV) analysis was also carried out to prevent embryonic chromosomal abnormalities. Prenatal diagnosis was preformed to verify the PGT outcomes. Results A novel compound heterozygous mutation in TREX1 gene was found in the proband causing AGS. A total of 3 blastocysts formed after intracytoplasmic sperm injection were biopsied. After genetic analyses, an embryo harbored a heterozygous mutation in TREX1 and without CNV was transferred. A healthy baby was born at 38th weeks and prenatal diagnosis results confirmed the accuracy of PGT. Conclusions In this study, we identified two novel pathogenic mutations in TREX1 , which has not been previously reported. Our study extends the mutation spectrum of TREX1 gene and contributes to the molecular diagnosis as well as genetic counseling for AGS. Our results demonstrated that combining NGS-based SNP haplotyping for PGT-M with invasive prenatal diagnosis is an effective approach to block the transmission of AGS and could be applied to prevent other monogenic diseases.

目的 探讨早期佩戴耳廓矫形器的无创矫正技术对新生儿先天性耳廓形态畸形(CADs)的治疗效果.方法 采用随机对照试验的研究设计,选取被诊断为CADs的29例患儿作为研究对象,随机将其分为研究组(15例)和对照组(14例).研究组在出生3 d内佩戴耳廓矫形器进行无创矫正,矫治时长2周;对照组不进行矫治.在研究对象出生后第3周和第6周进行随访,由两名专业医生对两组研究对象的耳廓形态进行评分.根据评分的下降程度分为显效、有效及无效.采用卡方检验分析两组研究对象改善显效率的差异.采用广义估计模型(GEE)分析两组在不同随访时间点耳廓形态评分的差异,进一步分析影响矫治效果的相关因素.结果 共纳入研究组24耳,对照组25耳.第6周随访时,研究组中21耳恢复正常形态,显效率87.5％,对照组9耳恢复正常形态,显效率36.0％,两组显效率比较差异有统计学意义(x2=12.01,P＜0.05).采用GEE模型分析两组研究对象耳廓形态评分情况,两组患耳耳廓形态评分均随时间推移有所下降,研究组评分下降趋势显著大于对照组(P＜0.05).基线评分越高,改善效果越差(P＜0.05).研究组不良反应发生率为8.3％,无严重不良反应.结论 出生3 d内佩戴耳廓矫形器的无创矫正技术对CADs的改善效果显著优于自愈倾向,畸形严重程度是影响改善效果的重要因素,畸形程度越高,改善效果越差,应尽早进行耳廓矫形器无创矫治.

OBJECTIVE:Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked genetic disorder that results in impaired enzyme activity. The G6PD/6PGD ratio assay was routinely used for G6PD deficiency screening in China, but there is an apparent defect of missed diagnosis in heterozygous females. The study aims to explore the means to improve its accuracy. METHODS:A total of 4,161 Chinese females of childbearing age were collected in this retrospective study. All samples were first subjected to G6PD/6PGD ratio assay and then screened by amplification refractory mutation system PCR (ARMS-PCR) for six hotspot mutants in Chinese population (c.1376G>T, c.1388G>A, c.95A>G, c.1024C>T, c.392G>T, and c.871G>A). For the samples with G6PD/6PGD ratio<1.0 and no mutations were found by ARMS-PCR, next-generation sequencing (NGS) was performed. Sanger sequencing was finally used to verify all the variants. RESULTS:The prevalence of G6PD deficiency in Shenzhen females of childbearing age was 7.31%. The proportion of the six hotspot mutations accounted for 98.03% of all 304 G6PD variants carriers. Taking the ARMS-PCR/NGS results as a reference, the missed diagnosis rate of the G6PD/6PGD ratio assay was 33.88%. Using ARMS-PCR to retest the samples with a G6PD/6PGD ratio between 1.00 and ∼1.10 or 1.00 and ∼1.15 could reduce the missed diagnosis rate from the original 33.88% to 18.09% or 12.05% separately. CONCLUSION:ARMS-PCR is an appropriate supplementary method for discovering most carriers missed by the G6PD/6PGD ratio assay.

This nested case-control study aimed to investigate the determinants of low birth weight among newborn babies delivered in Shenzhen, Guangdong, China. We recorded socio-demographic data, health status before pregnancy, pregnancy outcomes and complications in a Shenzhen mother and infant cohort. Among 8951 cases, 401 (4.48%) had low birth weight and 1.65% were full-term with LBW. Maternal body mass index, family income, history of pregnancy, hypertension before pregnancy, vaginal bleeding in 1(st) trimester, pregnancy-related diabetes, hypertension, placenta previa, placental abruption, premature rupture of membrane, oligohydramnios, and placental types were significantly associated with low birth weight (P < 0.05). In this study, high-risk and mainly preventable factors were linked to low birth weight. Adequate antenatal care, proper maternal nutrition and implementation of proven strategies to prevent high-risk factors may be effective ways to reduce the incidence of low birth weight. IMPACT STATEMENT What is already known on this subject? Low birth weight (LBW) is associated with adverse perinatal outcomes and neonatal disease and death. The aim of this study was to investigate the factors affecting low birth weight infants in a developed region in China. What the results of this study add? According to this study, the incidence of LBW in Shenzhen of China was 4.48%. Maternal body mass index, family income, history of pregnancy, hypertension before pregnancy, vaginal bleeding in 1st trimester, pregnancy-related diabetes, hypertension, placenta previa, placental abruption, premature rupture of membrane, oligohydramnios, and placental types were significantly associated with LBW. What the implications are of these findings for clinical practice and/or further research? This study suggests that good prenatal care, maternal nutrition and implementation of proven strategies to manage high-risk factors are needed to prevent and reduce the incidence of LBW. Health care providers could use our findings to identify good antenatal care and provide individualised interventions targeting women with risk factors.