Objective To explore the sensitivity of using NT,combined with serum biochemical markers (Free-βhCG,PAPP-A) for Down's Syndrome screening in early stage of pregnancy.Methods Collect pregnant women aged 17-45 years old voluntary antenatal screening in our hospital from March 2009to October 2010,a total of 11882 cases.Serum Free-βhCG and PAPP-A were measured NT value was determined by ultrasound at 11-13w+64 of gestation.Calculating combined screening (NT,Free-βhCG,PAPP-A),and serum integrated screening (Free-beta hCG,PAPP-A) risk,respectively,using the risk calculation software for the same person.Results Early pregnancy screening was performed in 11 882patients,18 had a fetus with Down's syndrome,a rate of 0.15％.The detection rates of Down's syndrome in combined screening and serum integrated screening were 83.3％ and 72.2％ respectively.The specificities were 98.4％ and 97.3％ and detection efficiency were 7.18％,3.90％ respectively.Areas under the curve (AUCs) of fhst-trimester combined screening and serum integrated screening were 0.975 (95％ CI:0.943,1.007),0.901 (95％ CI:0.789,1.013) respectively.Conclusion In early stage of pregnancy,combined screening for Down's syndrome has higher sensitivity and specificity than serological screening,has higher detection rate in the same false-positive rate case,which can effectively reduce the pregnant women to receive invasive puncture.

Objective To investigate the prevalence rate of hypertension among the elderly population in Shanxi Province. Methods According to the random sampling, 41 residents committees of city blocks and villages of 9 areas (including Taiyuan, Datong, Jinzhong, Yuncheng, et al) of Shanxi Province were extracted as the investigative spots. All the people were older than 55years, and risk factors for hypertension were identified. Results A total of 3702 people were surveyed, including 1,782 men and 1,920 women. The total hypertension prevalence rate was 39.0%(the standardized rate: 39. 5 %), with 38. 7 % in men (the standardized rate: 38. 5%), 39.3 % in women (the standardized rate: 41.2%), and no statistic significance was found between men and women (χ2= 0. 143, P>0. 05). Aging, lacking of knowledge, and obesity were risk factors for hypertension. Conclusions The hypertension in Shanxi Province has a high prevalence rate among the elderly population, a comprehensive intervention should be taken in the prevention of hypertension.

OBJECTIVETo explore the origin of a supernumerary small marker chromosome (sSMC) in a fetus, and to assess the feasibility of single nucleotide polymorphism array (SNP-array) for prenatal diagnosis.

METHODSThe fetal sample was subjected to karyotyping analysis. The identified sSMC was subjected to genome-wide scan using a SNP microarray chip. The results were validated with fluorescence in situ hybridization (FISH).

RESULTSThe karyotype of the fetus was determined as 47,XX,+mar, which was verified by SNP microarray chip analysis as a 34.6 Mb duplication in 12p13.33p11.1. FISH analysis confirmed that the sSMC has originated from chromosome 12p.

CONCLUSIONThe karyotype of the fetus was determined as 47,XX,+i(12)(p10). Tetrasomy 12p is reported to be a marker for Pallister-Killian syndrome, which may result in multi-system anomalies. SNP-array analysis can simultaneously detect microdeletions and microduplications, which may be used for prenatal diagnosis of suspected cases.

Adult ; Chromosome Aberrations ; Chromosome Banding ; Chromosome Disorders ; diagnostic imaging ; embryology ; genetics ; Chromosomes, Human, Pair 12 ; genetics ; Female ; Fetus ; abnormalities ; diagnostic imaging ; metabolism ; Genome-Wide Association Study ; methods ; Humans ; In Situ Hybridization, Fluorescence ; Karyotype ; Karyotyping ; Oligonucleotide Array Sequence Analysis ; methods ; Polymorphism, Single Nucleotide ; Pregnancy ; Ultrasonography, Prenatal ; methods

From December 2019, Coronavirus disease 2019 (COVID-19) pneumonia (formerly known as the 2019 novel Coronavirus [2019-nCoV]) broke out in Wuhan, China. In this study, we present serial CT findings in a 40-year-old female patient with COVID-19 pneumonia who presented with the symptoms of fever, chest tightness, and fatigue. She was diagnosed with COVID-19 infection confirmed by real-time reverse-transcriptase-polymerase chain reaction. CT showed rapidly progressing peripheral consolidations and ground-glass opacities in both lungs. After treatment, the lesions were shown to be almost absorbed leaving the fibrous lesions.

From December 2019, Coronavirus disease 2019 (COVID-19) pneumonia (formerly known as the 2019 novel Coronavirus [2019-nCoV]) broke out in Wuhan, China. In this study, we present serial CT findings in a 40-year-old female patient with COVID-19 pneumonia who presented with the symptoms of fever, chest tightness, and fatigue. She was diagnosed with COVID-19 infection confirmed by real-time reverse-transcriptase-polymerase chain reaction. CT showed rapidly progressing peripheral consolidations and ground-glass opacities in both lungs. After treatment, the lesions were shown to be almost absorbed leaving the fibrous lesions.
Adult ; China ; Coronavirus ; Fatigue ; Female ; Fever ; Humans ; Lung ; Pneumonia ; Thorax ; Tomography, X-Ray Computed

OBJECTIVE: To carry out prenatal diagnose for a fetus with ultrasonography abnormalities using multiple genetic techniques. METHODS: Routine G-banding chromosomal analysis and single nucleotide polymorphism array (SNP-array) were applied in conjunction for the prenatal diagnosis of the fetus. The result was confirmed by fluorescence in situ hybridization (FISH). RESULTS: SNP-array detected that the fetus has carried a hemizygous 5.1 Mb deletion at 22q13.31q13.33, which is associated with Phelan-McDermid syndrome, and a hemizygous 4.5 Mb deletion at 21q21.1q21.2. FISH analysis of the fetus and its parents suggested that both deletions were de novo in origin. CONCLUSION The hemizygous deletions on 21q21.1q21.2 and 22q13.31q13.33 probably underlay the abnormal phenotype of the fetus. Genetic analysis can provide crucial information for the prenatal diagnosis and genetic counseling.
Chromosome Deletion ; Chromosome Disorders/genetics* ; Chromosomes, Human, Pair 21/genetics* ; Chromosomes, Human, Pair 22/genetics* ; Female ; Fetus ; Humans ; In Situ Hybridization, Fluorescence ; Male ; Polymorphism, Single Nucleotide ; Pregnancy ; Prenatal Diagnosis ; Sequence Deletion/genetics*

OBJECTIVE: To explore the genetic basis for a patient with syndromic hearing loss. METHODS: Genomic DNA of the patient was extracted, for which 127 deafness-related genes were enriched with a chip. Following next generation sequencing, pathogenic loci in exonic regions were analyzed through comparison against the databases. Genotype of her fetus for the suspected site was determined by testing the amniotic fluid sample. qPCR method was applied to verify the deletion of a large fragment. RESULTS: The proband was diagnosed with Waardenburg syndrome type 2, and had harbored a novel heterozygous deletion of the exons 3 and 4 of the SOX10 gene. Her fetus was found to carry the same deletion and presented with blue eyes and deafness after birth. CONCLUSION Waardenburg syndrome type 2 due to SOX10 gene deletion may feature autosomal dominant inheritance with incomplete penetrance. The deletion of exons 3 and 4 of the SOX10 gene probably underlies the disease in this family.
Eye Color ; Female ; Hearing Loss ; Humans ; Mutation ; Pedigree ; Pregnancy ; Prenatal Diagnosis ; SOXE Transcription Factors ; genetics ; Waardenburg Syndrome

We reported a women with omithine carbamoyltransferase deficiency who delivered a healthy boy after two pregnancies with adverse outcome with the help of a multidiscipline team.The woman was admitted to Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine with an acute prenatal hyperammonemic episode at 28 gestational weeks of her first pregnancy in 2013 and was diagnosed with ornithine transcarbamylase deficiency.Her hyperammonemic complications were controlled under a well-planned multidisciplinary management including a low-protein diet and appropriate medications assisting nitrogen removal.A boy was delivered by cesarean section at 32 weeks of gestation but died three days later.Mutation analysis revealed a hemizygous c.583G＞A (G195R) mutation in the neonatal omithine carbamyltransferase gene and his mother was a heterozygous carrier with the same mutation.Two years later in 2015,the patient was pregnant spontaneously.However,she received an induced abortion at 21 weeks of gestation because amniocentesis and DNA analysis showed that the male fetus had the same omithine transcarbamylase gene mutation.The index pregnancy was assisted by in vitro fertilization-embryo transfer and preimplantation genetic diagnosis in 2017 and the woman delivered a healthy boy with the management ofa multidisciplinary team.

Objective:To explore influence on physical development of children aged 18 months from HIV-positive mothers for prevention mother to child transmission of HIV (PMTCT) in Guangxi Zhuang autonomous region, and provide evidence for the improvement PMTCT program.Methods:This retrospective case control study was conducted in 554 HIV negative infants aged 18 months whose HIV positive mothers had received PMTCT services reported through PMTCT system database from January 1, 2010 to December 31, 2017 and 1 109 healthy infants born in 2017, whose mothers were healthy, in Lingshan, Luzhai, and Hengxian counties, ranking top three counties with high HIV infection prevalence, in Guangxi. PMTCT data and physical development data such as height, weight and head circumference of children aged 18 months were collected. The physical dysplasia in the infants was defined as at least one of the three main indicators of height, weight and head circumference below the normal range.Results:The number of HIV-positive mother and their infants in the case group were 667 and 554 respectively, and the PMTCT rates were 91.15 % (608/667) and 96.57 % (535/554) respectively. HIV positive rate, mortality rate and mother to child transmission rate of the infants aged 18 months were 1.44 % (8/554), 3.07 % (17/554) and 1.91 % (8/418) respectively, and the physical examination results of the infants aged 18 months showed that the physical dysplasia rate was 30.51 % (169/554). Among the 1 109 infants in the control group, the physical dysplasia rate was 9.83 % (109/1 109). The difference between the case group and the control group was significant ( P<0.01). Conclusion:The PMTCT rates of HIV positive mother and their children were more than 90.00 %, respectively. However, poor physical development rate of infants aged 18 months were more than 30.00 %. The possible influence of PMTCT on physical development of the infants aged 18 months of HIV positive mother’s needs to be further studied.