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1.
Ann Anat ; 239: 151838, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-34637900

RESUMO

INTRODUCTION: The morphological variability of the fibularis longus tendon (FLT) in adults is well understood. However, no comprehensive classification exists in human fetuses. The goal of this study was to prepare the first comprehensive classification of the fibularis longus tendon based on its insertion in human fetuses. MATERIAL AND METHODS: Forty-seven spontaneously-aborted human fetuses were examined: 38 male, 56 female, a total of 94 lower limbs (Central European population). Age ranged from18-38 weeks of gestation at death. RESULTS: The classification comprised three types of FLT. The most common type was Type I (49%), characterized by the single distal attachment. This type was divided into two subtypes (A-B): A - the tendon inserts to the lateral tubercle of the base of the 1st metatarsal bone, B - the tendon inserts to the head of the 1st metatarsal bone. The second most type was Type II, characterized by a bifurcated distal attachment (24.5%). This type was divided into three subtypes (A-C): A - the main tendon inserts to the lateral tubercle of the base of the 1st metatarsal bone and the accessory band inserts to the medial cuneiform bone; B - the strong, main tendon inserts to both the base of the 1st metatarsal bone and medial cuneiform bone, including the first metatarsal-cuneiform joint, and the accessory bands inserts to the fourth interosseus dorsalis muscle; C - the main tendon inserts to the lateral tubercle of the base of the 1st metatarsal bone and the accessory band inserts to the first interosseus dorsalis muscle. The rarest type was Type III, characterized by a trifurcated distal attachment: the main tendon inserts to the lateral tubercle of the base of the 1st metatarsal bone and the first accessory band inserts to the medial cuneiform bone and the second accessory bands inserts to the first interosseus dorsalis muscle. The anterior frenular ligament was observed in 16% of all cases, and posterior frenular ligament in 6.4%. CONCLUSION: The FLT displays high morphological variability. The proposed classification consists of three main types, with Type I and Type II divided into sub-types; it also provides additional data regarding its accessory tendon bands.


Assuntos
Músculo Esquelético , Tendões , Adulto , Cadáver , Feminino , Feto , Humanos , Lactente , Ligamentos , Masculino
2.
Adv Exp Med Biol ; 1354: 63-76, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-34807437

RESUMO

Maternal nutritional status affects conceptus development and, therefore, embryonic survival, growth, and development. These effects are apparent very early in pregnancy, which is when most embryonic losses occur. Maternal nutritional status has been shown to affect conceptus growth and gene expression throughout the periconceptual period of pregnancy (the period immediately before and after conception). Thus, the periconceptual period may be an important "window" during which the structure and function of the fetus and the placenta are "programmed" by stressors such as maternal malnutrition, which can have long-term consequences for the health and well-being of the offspring, a concept often referred to as Developmental Origins of Health and Disease (DOHaD) or simply developmental programming. In this review, we focus on recent studies, using primarily animal models, to examine the effects of various maternal "stressors," but especially maternal malnutrition and Assisted Reproductive Techniques (ART, including in vitro fertilization, cloning, and embryo transfer), during the periconceptual period of pregnancy on conceptus survival, growth, and development. We also examine the underlying mechanisms that have been uncovered in these recent studies, such as effects on the development of both the placenta and fetal organs. We conclude with our view of future research directions in this critical area of investigation.


Assuntos
Fenômenos Fisiológicos da Nutrição Materna , Complicações na Gravidez , Animais , Desenvolvimento Embrionário , Feminino , Fertilização , Desenvolvimento Fetal , Feto , Humanos , Placenta , Gravidez
3.
Adv Exp Med Biol ; 1354: 77-107, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-34807438

RESUMO

Normal calcium and bone homeostasis in the adult is virtually fully explained by the interactions of several key regulatory hormones, including parathyroid hormone, 1,25 dihydroxy vitamin D3, fibroblast growth factor-23, calcitonin, and sex steroids (estradiol and testosterone). In utero, bone and mineral metabolism is regulated differently from the adult. During development, it is the placenta and not the fetal kidneys, intestines, or skeleton that is the primary source of minerals for the fetus. The placenta is able to meet the almost inexhaustible needs of the fetus for minerals by actively driving the transport of calcium and phosphorus from the maternal circulation to the growing fetus. These fundamentally important minerals are maintained in the fetal circulation at higher concentrations than those in maternal blood. Maintenance of these inordinately higher fetal levels is necessary for the developing skeleton to accrue sufficient minerals by term. Importantly, in livestock species, prenatal mineralization of the skeleton is crucial for the high levels of offspring activity soon after birth. Calcium is required for mineralization, as well as a plethora of other physiological functions. Placental calcium and phosphate transport are regulated by several mechanisms that are discussed in this review. It is clear that phosphate and calcium metabolism is intimately interrelated and, therefore, placental transport of these minerals cannot be considered in isolation.


Assuntos
Cálcio , Fosfatos , Animais , Feminino , Feto , Mamíferos , Hormônio Paratireóideo , Placenta , Placentação , Gravidez , Vitamina D
4.
Ann Anat ; 239: 151794, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-34217832

RESUMO

INTRODUCTION: The plantaris muscle (PM) is a small, fusiform muscle located between the gastrocnemius muscle (GM) and soleus muscle (SM). PM supports movements of the knee and ankle. This muscle presents a great variability, and also has a high clinical significance. Nevertheless, data concerns morphology and morphometry of the origin of PM in human fetuses are scarce. MATERIAL AND METHODS: Forty-seven spontaneously-aborted human fetuses (23 male, 24 female) aged 18-38 weeks of gestation were examined. The morphology and morphometry of the origin of PM were evaluated. RESULTS: PM was present in 74 lower limbs (78.7%), and absent on 20 limbs (21.3%). We distinguished VI types of the proximal attachment of PM. Belly width and thickness, as well as thickness of the tendon and MT junction differed significantly between types of PM origin. CONCLUSIONS: We distinguished six (I-VI) types of origin of PM in human fetuses. The most common type was type Ia, characterized by an attachment to the lateral head of GM, lateral femoral condyle and to the knee joint capsule. Our results of PM anatomical variation in fetuses will pave the way for detailed comparisons with studies carried out on adult cadavers.


Assuntos
Músculo Esquelético , Tendões , Adulto , Cadáver , Feminino , Feto , Humanos , Joelho , Articulação do Joelho , Masculino
5.
Pediatr Endocrinol Diabetes Metab ; 27(3): 232-234, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34743507

RESUMO

Fetus and neonate are dependent maternal supply of calcium for maintaining the calcium profile in physiologic range. The disturbances in maternal calcium homeostasis leads to changes in the baby's calcium. Maternal investigations in neonatal hypocalcemia not only reveal the etiology in the baby but are sometime helpful in unmasking maternal disorder of calcium homeostasis.


Assuntos
Hipocalcemia , Hipoparatireoidismo , Cálcio , Feminino , Feto , Humanos , Hipocalcemia/diagnóstico , Hipocalcemia/etiologia , Recém-Nascido , Mães , Convulsões/diagnóstico , Convulsões/etiologia
6.
Obstet Gynecol Clin North Am ; 48(4): 745-758, 2021 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-34756294

RESUMO

The field of fetal medicine has evolved significantly over the past several decades. Our ability to identify and treat the unborn patient has been shaped by advancements in imaging technology, genetic diagnosis, an improved understanding of fetal physiology, and the development and optimization of in utero surgical techniques. The future of the field will be shaped by medical innovators pushing for the continued refinement of minimally invasive surgical technique, the application of pioneering technologies such as robotic surgery and in utero stem cell and gene therapies, and the development of innovative ex utero fetal support systems.


Assuntos
Doenças Fetais , Feminino , Doenças Fetais/diagnóstico , Doenças Fetais/cirurgia , Feto/cirurgia , Humanos , Procedimentos Cirúrgicos Minimamente Invasivos , Gravidez , Cuidado Pré-Natal
7.
Obstet Gynecol Clin North Am ; 48(4): 777-785, 2021 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-34756296

RESUMO

Fetal analysis uses noninvasive and invasive methods to obtain images and tissues for interpretation that supports risk assessment and/or diagnosis of the fetus's condition. This article provides ethically justified, clinically applicable guidance for supporting the pregnant patient's decision making about fetal analysis. Topics include ethical reasoning using key ethical concepts, confidentiality, clarity about the pregnant woman as ultimate decision maker, offering fetal analysis, counseling about results, counseling about accepted maternal-fetal intervention, and counseling about innovation and research on maternal-fetal intervention. Professional ethics is an essential component of counseling pregnant patients about fetal analysis and referral for investigative maternal-fetal intervention.


Assuntos
Ética Médica , Feto , Aconselhamento , Feminino , Humanos , Gravidez , Gestantes , Cuidado Pré-Natal
8.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 38(11): 1055-1059, 2021 Nov 10.
Artigo em Chinês | MEDLINE | ID: mdl-34729742

RESUMO

OBJECTIVE: To analyze the prenatal ultrasound phenotypes of copy number variations (CNVs) in different regions of 22q11.2, their parental original, and pregnancy outcome. METHODS: Prenatal phenotypes of 25 cases with CNVs of the 22q11.2 region detected by chromosomal microarray analysis (CMA) was reviewed, which including There were 13 deletions and 12 duplications. Multiplex ligation-dependent probe amplification(MLPA) was carried out to determine their parental origin. All cases were followed up for their pregnancy outcome and postnatal growth. RESULTS: Among the 25 cases, the ultrasound phenotypes of those involving the TBX1 gene were mostly cardiovascular system abnormalities, the ultrasound phenotypes of cases involving CRKL gene are mostly polycystic renal dysplasia. The ultrasound phenotypes of CNVs in the distal region (involving the SMARCB1 gene) are nervous system abnormalities. 12 cases (48%) of CNVs were de novo in origin. Five cases were lost during follow-up,12 had opted to terminate the pregnancy, 8 fetuses were born,7 with normal growth and development, 1 case with CNV in A-D region was abnormal.Prenatal ultrasound showed abnormalities in the cardiovascular system consistent with postnatal ultrasound, in addition with dysphagia and growth retardation. CONCLUSION: Prenatal phenotypes of the 22q11.2 region CNVs are diverse, which may be related to gene function. NT thickening may be used as an early ultrasound finding of proximal 22q11.2 CNV. More research is still required to delineate the nature of CNVs and gene function, so as to facilitate genetic counseling.


Assuntos
Variações do Número de Cópias de DNA , Feto , Feminino , Aconselhamento Genético , Humanos , Análise em Microsséries , Fenótipo , Gravidez , Diagnóstico Pré-Natal
9.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 38(11): 1064-1067, 2021 Nov 10.
Artigo em Chinês | MEDLINE | ID: mdl-34729744

RESUMO

OBJECTIVE: To investigate the ultrasonographic findings and genetic testing methods for fetuses carrying copy number variants (CNVs) of 7q11.23 region. METHODS: Prenatal cases with 7q11.23 microdeletion/microduplication detected by single nucleotide polymorphism array (SNP array) from January 2016 to June 2020 were retrospectively analyzed, including fetal ultrasound, chromosomal karyotype, SNP array, pregnancy outcome and follow-up. Literature on 7q11.23 CNVs identified upon prenatal diagnosis was also reviewed. RESULTS: Five fetuses were found with 7q11.23 CNVs, including 3 microdeletions and 2 microduplications. Of them, 4 had ultrasonographic anomalies. The karyotypes of all fetuses were normal. Of three 7q11.23 microdeletions, two were de novo, while the remaining one couple did not accept parental verification. Of two 7q11.23 microduplications, one was de novo and the another was inherited from a phenotypic normal father. Three 7q11.23 microdeletions and one de novo 7q11.23 microduplication were electively aborted. One fetus carrying paternally inherited 7q11.23 microduplication was delivered full term. Follow-up found the infant had a normal phenotype. CONCLUSION: Fetuses with 7q11.23 microdeletions or microduplications showed phenotypic heterogeneity. SNP array can accurately detect 7q11.23 CNVs, thereby provide accurate information for prenatal diagnosis and genetic counseling.


Assuntos
Feto , Diagnóstico Pré-Natal , Variações do Número de Cópias de DNA , Feminino , Humanos , Cariotipagem , Gravidez , Estudos Retrospectivos
10.
Zhonghua Gan Zang Bing Za Zhi ; 29(10): 923-926, 2021 Oct 20.
Artigo em Chinês | MEDLINE | ID: mdl-34814385

RESUMO

Pregnancy-related liver disease is a group of severe diseases that usually resulting in worsening clinical outcome in pregnant women and fetuses. Therefore, diagnosis and treatment at early-stage are essential. This paper reviews the early-stage clinical features, pathogenesis, diagnosis and treatment key points of common pregnancy-related liver diseases such as hyperemesis gravidarum, intrahepatic cholestasis of pregnancy, hemolysis, elevated liver enzymes and low platelet syndrome, and acute fatty liver of pregnancy, in order to help clinicians, improve their understanding of pregnancy-related liver disease.


Assuntos
Colestase Intra-Hepática , Fígado Gorduroso , Hiperêmese Gravídica , Hepatopatias , Complicações na Gravidez , Colestase Intra-Hepática/diagnóstico , Colestase Intra-Hepática/terapia , Feminino , Feto , Humanos , Hepatopatias/diagnóstico , Hepatopatias/terapia , Gravidez , Complicações na Gravidez/diagnóstico , Complicações na Gravidez/terapia
11.
Anesthesiol Clin ; 39(4): 839-849, 2021 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-34776112

RESUMO

Obstetric anesthesiologists can use the tenets of principlism to identify ethically supportable decisions. This approach begins with recognizing and upholding the fiduciary obligations that every physician has to their patient. For the pregnant patient, these obligations are both autonomy- and beneficence-based. Additional beneficence-based obligations arise in cases where the fetus is also considered a patient. Ethical dilemmas result from conflict between any of these obligations. A shared decision-making model that incorporates the foundational principles of ethics can be used to resolve these conflicts, leaving clinicians and patients confident that a sound decision-making process has taken place and an ethically supportable decision has been reached.


Assuntos
Feto , Autonomia Pessoal , Beneficência , Feminino , Humanos , Gravidez
12.
Anesthesiol Clin ; 39(4): 851-869, 2021 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-34776113

RESUMO

Surgery during pregnancy occurs when maternal or fetal needs outweigh the status quo, yet much uncertainty remains regarding the effects of anesthesia and surgery on fetal neurodevelopment. This article will review common maternal and fetal indications for invasive procedures, along with contemporary research on fetal neurodevelopment following anesthesia and surgery, focusing on future areas of investigation.


Assuntos
Anestesia , Encéfalo , Anestesia/efeitos adversos , Feminino , Feto , Humanos , Gravidez
13.
Pol Merkur Lekarski ; 49(293): 341-345, 2021 Oct 22.
Artigo em Inglês | MEDLINE | ID: mdl-34800020

RESUMO

Improving the quality of medical services provided to pregnant women remains an urgent issue in modern obstetrics. Women with perinatal losses, especially in the second half of pregnancy, deserve special attention, mainly in connection with an increased incidence of thromboembolic complications. AIM: The aim is to search for coagulation predictors of antenatal fetal death, to determine the main indicators of hemostasis and correlation between the case of antenatal fetal death and the risk of thromboembolic complications. MATERIALS AND METHODS: According to the goal, we examined 54 pregnant women with antenatal fetal death. Control group included 30 healthy primigravida women Comparative characteristics of the state of the hemostatic system during pregnancy and childbirth in the case of antenatal fetal death and during physiological pregnancy were conducted. Evaluation of the hemostatic system was performed before delivery and in the postpartum period with a dead fetus. The condition of the vessels of the pelvic organs was determined by dopplerometry of the internal iliac, uterine and ovarian veins. RESULTS: The assessment of the hemostatic system parameters in the second group of pregnant women in 65% revealed a tendency to hypercoagulation, which manifested itself much earlier than in physiological pregnancy. CONCLUSIONS: Antenatal fetal death is a trigger for activation of coagulation and formation of blood clots, and, accordingly, is a factor of the occurrence of thrombotic exacerbations in the perinatal period. In pregnant women with antenatal fetal death, it is necessary to determine the soluble fibrinogen monomer complex and D-dimer parameters, which most informatively indicate the degree of intravascular coagulation. In pregnant women at high risk of antenatal fetal death at the stage of antenatal clinic should be performed duplex scanning of the pelvic veins with the determination of average blood flow velocity, cross-section diameter, cross-section area indicators and the calculation of volumetric blood flow velocity, and if there are changes venous thromboembolism prevention should be provided.


Assuntos
Complicações na Gravidez , Cuidado Pré-Natal , Feminino , Morte Fetal , Feto , Humanos , Parto , Gravidez
15.
Radiographics ; 41(7): 2176-2192, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34723699

RESUMO

Congenital anomalies of the spine are associated with substantial morbidity in the perinatal period and may affect the rest of the patient's life. Accurate early diagnosis of spinal abnormalities during fetal imaging allows prenatal, perinatal, and postnatal treatment planning, which can substantially affect functional outcomes. The most common and clinically relevant congenital anomalies of the spine fall into three broad categories: spinal dysraphism, segmentation and fusion anomalies of the vertebral column, and sacrococcygeal teratomas. Spinal dysraphism is further categorized into one of two subtypes: open spinal dysraphism and closed spinal dysraphism. The latter category is further subdivided into those with and without subcutaneous masses. Open spinal dysraphism is an emergency and must be closed at birth because of the risk of infection. In utero closure is also offered at some fetal centers. Sacrococcygeal teratomas are the most common fetal pelvic masses and the prognosis is variable. Finally, vertebral body anomalies are categorized into formation (butterfly and hemivertebrae) and segmentation (block vertebrae) anomalies. Although appropriate evaluation of the fetal spine begins with US, which is the initial screening modality of choice, MRI is increasingly important as a problem-solving tool, especially given the recent advances in fetal MRI, its availability, and the complexity of fetal interventions. Online supplemental material is available for this article. ©RSNA, 2021.


Assuntos
Disrafismo Espinal , Coluna Vertebral , Feminino , Feto , Humanos , Recém-Nascido , Imageamento por Ressonância Magnética , Gravidez , Diagnóstico Pré-Natal
16.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 38(12): 1180-1184, 2021 Dec 10.
Artigo em Chinês | MEDLINE | ID: mdl-34839502

RESUMO

OBJECTIVE: Patients with 22q11.2 microduplications have highly variable clinical phenotypes. The clinical manifestations and prognosis of 19 fetuses carrying 22q11.2 microduplications were analyzed. METHODS: The fetuses were analyzed by single nucleotide polymorphism array (SNP array), which was followed by parental validation. Pregnancy outcome and clinical features of the newborns were analyzed in order to delineate genotype-phenotype correlation. RESULTS: Two fetuses were identified by karyotyping analysis of amniotic fluid samples. SNP array revealed that all have carried a 468.8 kb~3.4 Mb duplication in 22q11.2 region. Two couples have refused parental verification. Seven cases were inherited from the mother, 6 were from the father, and 4 cases were de novo in origin. Three couples opted termination of the pregnancy. One fetus perished at birth. Five newborns showed delayed growth, the remaining 10 were normal. CONCLUSION: The prenatal phenotype of fetuses carrying 22q11.2 microduplications are nonspecific, and the phenotypes of survivors may become more diverse along with increased age. Professional evaluation and long-term follow-up should be recommended.


Assuntos
Aconselhamento Genético , Diagnóstico Pré-Natal , Feminino , Feto , Humanos , Recém-Nascido , Cariotipagem , Fenótipo , Gravidez
17.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 38(12): 1250-1253, 2021 Dec 10.
Artigo em Chinês | MEDLINE | ID: mdl-34839518

RESUMO

OBJECTIVE: To carry out genetic analysis and parental tracing for a fetus with an inconclusive chromosomal karyotype. METHODS: The fetus and its parents were subjected to combined chromosomal karyotyping, chromosomal microarray analysis (CMA), fluorescence in situ hybridization (FISH) and multiplex PCR testing for Y chromosome microdeletions. RESULTS: The fetus was found to have a karyotype of 45,X[18]/46,X,+mar[72]. CMA revealed that the fetus has carried a 2.6 Mb duplication at Yp11.32p11.31 and a 44.5 Mb deletion at Yq11.21q12. Interphase FISH of amniocytes confirmed the chromosomal mosaicism in the fetus, which has derived from Y chromosome. Multiplex PCR revealed deletion of AZFb and AZFc regions on the Y chromosome. No karyotypic abnormality was found with either parent at 400-band level. CONCLUSION: Combined genetic analysis has delineated the aberrant karyotype in the fetus, which has facilitated prediction of its clinical phenotype and genetic counseling.


Assuntos
Mosaicismo , Diagnóstico Pré-Natal , Cromossomos Humanos Y/genética , Feminino , Feto , Humanos , Hibridização in Situ Fluorescente , Cariótipo , Gravidez
18.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 38(12): 1254-1257, 2021 Dec 10.
Artigo em Chinês | MEDLINE | ID: mdl-34839519

RESUMO

OBJECTIVE: To assess the correlation of borderline fetal ventriculomegaly with genomic copy number variations (CNVs) and outcome of pregnancy. METHODS: For 84 singleton pregnancies diagnosed with VM, chromosomal microarray analysis (CMA) was carried out to detect the CNVs of the fetal genome. Outcome of the pregnancy and neonatal development were analyzed. The pregnant women were divided into mild group (10-12 mm), moderate group (12-15 mm) and severe group (>= 15 mm) based on the severity of fetal ventriculomegaly. The detection rate of pathogenic CNVs and pregnancy outcome were compared. Multivariate logistic regression was carried out to analyze the predictors for pregnancy outcome. RESULTS: Respectively, 24, 28 and 32 fetuses were assigned into the mild, moderate and severe groups. CMA has detected 15 cases of chromosomal abnormalities, including 11 pathogenic CNVs and 4 abnormal karyotypes. Abnormal pregnancy outcomes were found in 20 fetuses, including 12 with hydrocephalus and 8 with chromosomal microdeletion syndromes. A significant difference was found in the detection rate of fetal pathogenic CNVs and abnormal pregnancy outcome among the three groups (P<0.05). Multivariate logistic regression analysis showed that the largest change of lateral ventricle width (OR = 1.868, 95%CI = 1.120-3.116) and the extent of lateral ventricle widening (OR = 1.571, 95%CI = 1.120-2.206) were the key factors affecting the outcome of pregnancy (P<0.05). CONCLUSION: Borderline fetal VM is associated with the risk of pathogenic CNVs and adverse pregnancy outcome. A comprehensive examination is required after prenatal ultrasound diagnosis, which is conducive to prenatal consultation and prognostic evaluation of the fetus.


Assuntos
Variações do Número de Cópias de DNA , Hidrocefalia , Aberrações Cromossômicas , Feminino , Feto , Humanos , Hidrocefalia/genética , Recém-Nascido , Análise em Microsséries , Gravidez , Resultado da Gravidez , Diagnóstico Pré-Natal
19.
BMC Genomics ; 22(1): 713, 2021 Oct 02.
Artigo em Inglês | MEDLINE | ID: mdl-34600470

RESUMO

BACKGROUND: Abortion in horses leads to economic and welfare losses to the equine industry. Most cases of equine abortions are sporadic, and the cause is often unknown. This study aimed to detect potential abortigenic pathogens in equine abortion cases in Australia using metagenomic deep sequencing methods. RESULTS: After sequencing and analysis, a total of 68 and 86 phyla were detected in the material originating from 49 equine abortion samples and 8 samples from normal deliveries, respectively. Most phyla were present in both groups, with the exception of Chlamydiae that were only present in abortion samples. Around 2886 genera were present in the abortion samples and samples from normal deliveries at a cut off value of 0.001% of relative abundance. Significant differences in species diversity between aborted and normal tissues was observed. Several potential abortigenic pathogens were identified at a high level of relative abundance in a number of the abortion cases, including Escherichia coli, Klebsiella pneumoniae, Klebsiella oxytoca, Streptococcus equi subspecies zooepidemicus, Pantoea agglomerans, Acinetobacter lwoffii, Acinetobacter calcoaceticus and Chlamydia psittaci. CONCLUSIONS: This work revealed the presence of several potentially abortigenic pathogens in aborted specimens. No novel potential abortigenic agents were detected. The ability to screen samples for multiple pathogens that may not have been specifically targeted broadens the frontiers of diagnostic potential. The future use of metagenomic approaches for diagnostic purposes is likely to be facilitated by further improvements in deep sequencing technologies.


Assuntos
Doenças dos Cavalos , Metagenômica , Acinetobacter , Animais , Austrália , Feminino , Feto , Cavalos , Metagenoma , Gravidez
20.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 38(10): 1012-1016, 2021 Oct 10.
Artigo em Chinês | MEDLINE | ID: mdl-34625944

RESUMO

OBJECTIVE: To investigate the clinical effect of expanded non-invasive prenatal testing (NIPT-plus) for serological screening of fetuses with high-risk for Down's syndrome. METHODS: To retrospectively study the screening results, prenatal diagnosis and pregnancy outcomes of 1561 midterm pregnant women underwent NIPT-plus in our center from September 2018 to December 2019 due to serological screening with high-risk for Down's syndrome(≥ 1/270). RESULTS: 45 pregnant women had a high-risk with a detection rate of 2.88% (45/1561) of 1561 pregnant women who performed NIPT-plus. 40 pregnant women underwent invasive prenatal diagnosis and 20 cases were confirmed with a positive predictive value of 50.0% (20/40). Statistical analysis showed that NIPT-plus has a high detection rate for trisomy 21, sex chromosomal aneuploidy, and MMS in the 0.1/90 group, but with a positive predictive value lower than the other two groups. CONCLUSION: The detection rate and PPVs of NIPT-plus in different groups of Down's high-risk pregnant women was different. NIPT-plus can reduce the pressure of prenatal diagnosis and can be used as a screening method for Down's syndrome with high risk in pregnant women.


Assuntos
Síndrome de Down , Síndrome de Down/diagnóstico , Síndrome de Down/genética , Feminino , Feto , Humanos , Gravidez , Diagnóstico Pré-Natal , Estudos Retrospectivos , Trissomia
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