Non invasive prenatal diagnosis of fetal aneuploidy using cell free fetal DNA
Keywords: تشخیص پیش از تولد; Prenatal diagnosis; NIPT; Cell free fetal DNA; Aneuploidy;
مقالات ISI تشخیص پیش از تولد (ترجمه نشده)
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Cell-Free DNA Screening for Aneuploidy and Microdeletion Syndromes
Keywords: تشخیص پیش از تولد; Prenatal screening; Cell-free DNA screening; Noninvasive prenatal testing; Aneuploidy screening; Prenatal diagnosis;
Non-Invasive Prenatal Testing (NIPT) in pregnancies with trisomy 21, 18 and 13 performed in a public setting - factors of importance for correct interpretation of results
Keywords: تشخیص پیش از تولد; Non-Invasive prenatal testing; Cell-free DNA; Aneuploidy; Sensitivity and specificity; Prenatal diagnosis;
Identification of a novel ALMS1 pathogenic variant in a family with Cone-Rod Dystrophy using whole exome sequencing, followed by prenatal diagnosis
Keywords: تشخیص پیش از تولد; Cone-Rod Dystrophy; ALMS1; Whole exome sequencing; Prenatal diagnosis;
Fetal cell-free DNA fraction in maternal plasma for the prediction of hypertensive disorders of pregnancy
Keywords: تشخیص پیش از تولد; Cell-free DNA; Fetal fraction; HDP; NIPT; Prenatal diagnosis;
Prenatal diagnosis of an 8q22.2-q23.3 deletion associated with bilateral cleft lip and palate and intrauterine growth restriction on fetal ultrasound
Keywords: تشخیص پیش از تولد; 8q22.2-q23.3 deletion; Cleft lip and palate; Intrauterine growth restriction; Prenatal diagnosis; Ultrasound;
CAPS PaperPrenatal diagnosis and outcome of fetal gastrointestinal obstruction
Keywords: تشخیص پیش از تولد; Gastrointestinal abnormalities; Prenatal diagnosis; Congenital bowel obstruction; Fetal MRI, fetal imperforate anus;
APSA PaperPrenatal growth characteristics of lymphatic malformations
Keywords: تشخیص پیش از تولد; Lymphatic malformation; Fetus; Sclerotherapy; Prenatal diagnosis;
Original ArticleSegmental volvulus in the neonate: A particular clinical entity
Keywords: تشخیص پیش از تولد; Pediatric surgery; Prénatal diagnosis; Small bowel; Occlusion;
Prenatal diagnosis and molecular cytogenetic characterization of low-level mosaicism for tetrasomy 18p at amniocentesis in a pregnancy with a favorable outcome
Keywords: تشخیص پیش از تولد; Amniocentesis; Mosaic tetrasomy 18p; Prenatal diagnosis; Supernumerary isochromosome 18p;
Prenatal diagnosis of holoprosencephaly associated with Smith-Lemli-Opitz syndrome (SLOS) in a 46,XX fetus
Keywords: تشخیص پیش از تولد; Cholesterol; Dehydrocholesterols; Holoprosencephaly; Prenatal diagnosis; Smith-Lemli-Opitz syndrome;
Case studyUnusual association of SCN2A epileptic encephalopathy with severe cortical dysplasia detected by prenatal MRI
Keywords: تشخیص پیش از تولد; Epileptic encephalopathy; Cortical dysplasia; SCN2A; Prenatal diagnosis; Fetal MRI;
Molecular genetic characterization of a prenatally detected de novo interstitial deletion of chromosome 2q (2q31.1-q32.1) encompassing HOXD13, ZNF385B and ZNF804A associated with syndactyly and increased first-trimester nuchal translucency
Keywords: تشخیص پیش از تولد; Chromosome 2q31.1q32.1 deletion; HOXD13; Nuchal translucency; Prenatal diagnosis; Syndactyly;
Molecular genetic characterization of a prenatally detected de novo interstitial deletion of chromosome 20p (20p12-p13) encompassing JAG1 and a literature review of prenatal diagnosis of Alagille syndrome
Keywords: تشخیص پیش از تولد; Alagille syndrome; 20p12 deletion; JAG1; Prenatal diagnosis;
Fetoplacental cytogenetic discrepancy in a pregnancy with fetal mosaic tetrasomy 12p and Pallister-Killian syndrome detected by amniocentesis
Keywords: تشخیص پیش از تولد; Fetoplacental cytogenetic discrepancy; Mosaic tetrasomy 12p; Pallister-Killian syndrome; Prenatal diagnosis;
Fetal MRI diagnosis of 2 types of left pulmonary artery sling
Keywords: تشخیص پیش از تولد; Prenatal diagnosis; Left pulmonary artery sling; MRI; Bridging bronchus;
Prenatal diagnosis and molecular cytogenetic characterization of low-level mosaic trisomy 12 at amniocentesis associated with a favorable pregnancy outcome
Keywords: تشخیص پیش از تولد; amniocentesis; mosaic trisomy 12; prenatal diagnosis; trisomy 12 mosaicism;
Molecular genetic characterization of a prenatally detected 1.484-Mb Xq13.3-q21.1 duplication encompassing ATRX and a literature review of syndromic intellectual disability and congenital abnormalities in males with a duplication at Xq13.3-q21.1
Keywords: تشخیص پیش از تولد; ATRX; Prenatal diagnosis; Xq13.3-q21.1 duplication; Xq duplication;
Prenatal diagnosis and molecular cytogenetic characterization of an interstitial deletion of 18q12.1-q12.3 encompassing DTNA, CELF4 and SETBP1
Keywords: تشخیص پیش از تولد; 18q12.1-q12.3 deletion; CELF4; DTNA; Prenatal diagnosis; SETBP1;
Valor de la resonancia magnética cerebral en fetos con sospecha ecográfica de agenesia del cuerpo calloso
Keywords: تشخیص پیش از تولد; Diagnóstico prenatal; EcografÃa fetal; Resonancia magnética fetal; Agenesia de cuerpo calloso; Prenatal diagnosis; Fetal ultrasound; Fetal magnetic resonance imaging; Agenesis of corpus callosum;
Value of brain MRI when sonography raises suspicion of agenesis of the corpus callosum in fetuses
Keywords: تشخیص پیش از تولد; Prenatal diagnosis; Fetal ultrasound; Fetal magnetic resonance imaging; Agenesis of corpus callosum; Diagnóstico prenatal; EcografÃa fetal; Resonancia magnética fetal; Agenesia de cuerpo calloso;
Enjeux éthiques et cliniques de la consultation anténatale dans le cadre des malformations de membres
Keywords: تشخیص پیش از تولد; Diagnostic anténatal; Malformations de membres; Normalité; Ãthique; Prenatal diagnosis; Limb malformation; Normal body; Medical ethics;
Oclusão traqueal por fetoscopia em hérnia diafragmática congênita grave: estudo retrospectivo
Keywords: تشخیص پیش از تولد; Hérnia diafragmática congênita; Diagnóstico préânatal; Oclusão traqueal; Fetoscopia; Cirurgia fetal; Anestesia; Congenital diaphragmatic hernia; Prenatal diagnosis; Tracheal occlusion; Fetoscopy; Fetal surgery; Anesthesia;
Diagnostic prénatal des dysraphismes spinaux : corrélation des données anténatales et postnatales
Keywords: تشخیص پیش از تولد; Anomalie de fermeture du tube neural; Spina bifida; Myéloméningocèle; Diagnostic prénatal; Ãchographie anténatale; Examen postnatal; Neural tube defect; Spina bifida; Myelomeningocele; Prenatal diagnosis; Prenatal ultrasound; Postnatal examination;
Fetal surgery for myelomeningocele: After the Management of Myelomeningocele Study (MOMS)
Keywords: تشخیص پیش از تولد; Fetal surgery; Management of Myelomeningocele Study; Myelomeningocele; Myeloschisis; Neural tube defect; Prenatal diagnosis; Spina bifida;
Prenatal diagnosis and molecular cytogenetic characterization of concomitant familial small supernumerary marker chromosome derived from chromosome 4q (4q11.1-q13.2) and 5q13.2 microdeletion with no apparent phenotypic abnormality
Keywords: تشخیص پیش از تولد; 5q13.2 microdeletion; chromosome 4; mosaicism; prenatal diagnosis; small supernumerary marker chromosome;
Pratique de l'IRM fÅtale dans un centre hospitalo-universitaire de diagnostic prénatal
Keywords: تشخیص پیش از تولد; IRM fÅtale; Ãchographie obstétricale; Diagnostic prénatal; Radiologie pédiatrique; Fetal MRI; Prenatal ultrasound; Prenatal diagnosis; Pediatric radiology;
Attitudes toward prenatal genetic testing and therapeutic termination of pregnancy among parents of offspring with Prader-Willi syndrome
Keywords: تشخیص پیش از تولد; Prader Willi syndrome; Parents attitudes; Prenatal diagnosis; Termination of pregnancy; Fetal anomalies;
Rapid prenatal diagnosis of aneuploidy for chromosomes 21, 18, 13, X, and Y using segmental duplication quantitative fluorescent PCR (SD-QF-PCR)
Keywords: تشخیص پیش از تولد; FISH; fluorescence in situ hybridization; QF-PCR; quantitative fluorescent PCR; qPCR; real-time quantitative PCR; MLPA; multiplex ligation-dependent probe amplification; HGQ-PCR; homologous gene quantitative PCR; PSQ; paralogous sequence quantification; H
Review ArticleAntenatal predictors of outcome in prenatally diagnosed congenital diaphragmatic hernia (CDH)
Keywords: تشخیص پیش از تولد; Congenital diaphragmatic hernia; Prenatal diagnosis; Lung-head ratio; Total fetal lung volume; Outcomes;
Prenatal ultrasound monitoring of homozygous α0-thalassemia-induced fetal anemia
Keywords: تشخیص پیش از تولد; α0-thalassemia; cardiomegaly; Hb-Bart's disease; prenatal diagnosis; prenatal ultrasonography; middle cerebral artery;
Microarrays in prenatal diagnosis
Keywords: تشخیص پیش از تولد; prenatal diagnosis; molecular karyotyping; chromosomal microarray; SNP array; copy number variant;
No 261-Dépistage prénatal de l'aneuploïdie fÅtale en ce qui concerne les grossesses monofÅtales
Keywords: تشخیص پیش از تولد; Aneuploidy; Down syndrome; trisomy; prenatal screening; genetic health risk; genetic health surveillance; prenatal diagnosis; AFP; AlphafÅtoprotéine; AMEDS; Anomalies de la moelle épinière par défaut de soudure; CN; Clarté nucale; DMM; Dépistage mu
No 262-Dépistage et diagnostic prénatals de l'aneuploïdie en ce qui concerne les grossesses gémellaires
Keywords: تشخیص پیش از تولد; Prenatal screening; twin pregnancy; prenatal diagnosis; amniocentesis; nuchal translucency; maternal serum screening; chorionic villus sampling; AFP; AlphafÅtoprotéine; CN; Clarté nucale; hCG; Gonadotrophine chorionique humaine; PAPP-A; Protéine plasm
Quantitative analysis of fetal facial morphology using 3D ultrasound and statistical shape modeling: a feasibility study
Keywords: تشخیص پیش از تولد; 3-dimensional ultrasound; facial dysmorphism; genetic syndrome; prenatal diagnosis; principal component analysis; statistical shape modeling;
Can 3-dimensional power Doppler indices improve the prenatal diagnosis of a potentially morbidly adherent placenta in patients with placenta previa?
Keywords: تشخیص پیش از تولد; cesarean delivery; 2-dimensional; 3-dimensional; invasive; morbidly adherent placenta; placenta accreta; placenta previa; power Doppler; prenatal diagnosis; ultrasound;
Control de calidad del cribado prenatal de aneuploidÃas. Control epidemiológico y control de calidad de la medición de la translucencia nucal: resultados de un hospital de tercer nivel durante un periodo de 3 años
Keywords: تشخیص پیش از تولد; Diagnóstico prenatal; Cribado de aneuploidÃas; SÃndrome de Down; Translucencia nucal; Control de calidad; Prenatal diagnosis; Aneuploidy screening; Down syndrome; Nuchal Translucency; Quality control;
Pallister-Killian syndrome: Cytogenetics and molecular investigations of mosaic tetrasomy 12p in prenatal chorionic villus and in amniocytes. Strategy of prenatal diagnosis
Keywords: تشخیص پیش از تولد; cytogenetic analysis; isochromosome 12p; Pallister-Killian syndrome; prenatal diagnosis; tetrasomy 12p;
Uhl's anomaly: Clinical spectrum and pathophysiology
Keywords: تشخیص پیش از تولد; Uhl's anomaly; Unguarded tricuspid valve orifice; Pulmonary atresia; Prenatal diagnosis;
Prenatal diagnosis of the maternal derivative chromosome der(15)t(Y;15)(q12;p13) in a dizygotic twin pregnancy
Keywords: تشخیص پیش از تولد; Prenatal diagnosis; Sex chromosome aberrations; Twin pregnancy;
Maternal urinary cell free fetal DNA in relation to gestational age
Keywords: تشخیص پیش از تولد; Cell free fetal DNA; Maternal urine; Gestational age; Prenatal diagnosis;
Prenatally diagnosed severe CDH: mortality and morbidity remain high
Keywords: تشخیص پیش از تولد; Congenital diaphragmatic hernia; Prenatal diagnosis; Lung to head ratio; Fetal MRI; Postnatal outcome
Prenatal diagnosis of hemivertebrae—A likely association with 7q deletion
Keywords: تشخیص پیش از تولد; hemivertebrae; prenatal diagnosis; 7q terminal deletion
Detection of recurrent 4p16.3 microdeletion with 2p25.3 microduplication by multiplex ligation-dependent probe amplification and array comparative genomic hybridization in a fetus from a family with Wolf–Hirschhorn syndrome
Keywords: تشخیص پیش از تولد; array comparative genomic hybridization; genetic counseling; multiplex ligation-dependent probe amplification; prenatal diagnosis; Wolf–Hirschhorn syndrome
Prenatal diagnosis and molecular cytogenetic characterization of de novo partial monosomy 3p (3p26.3→pter) and partial trisomy 16q (16q23.1→qter)
Keywords: تشخیص پیش از تولد; array comparative genomic hybridization; 3p deletion; 16q duplication; prenatal diagnosis; quantitative fluorescent polymerase chain reaction
Prenatal diagnosis and molecular cytogenetic characterization of a de novo 4.858-Mb microdeletion in 15q14 associated with ACTC1 and MEIS2 haploinsufficiency and tetralogy of Fallot
Keywords: تشخیص پیش از تولد; 15q14 microdeletion; ACTC1; MEIS2; prenatal diagnosis; tetralogy of Fallot
Bilan iconographique (échographie/IRM) dans l’évaluation anténatale des malformations lymphatiques kystiques cervicales
Keywords: تشخیص پیش از تولد; Masse cervicale; Malformation lymphatique kystique; Imagerie par résonance magnétique; Échographie; Diagnostic anténatal; Fœtal; ExtensionCervical tumor; Cystic lymphangioma; Magnetic resonance imaging; Ultrasonography; Prenatal diagnosis; Fetal; Extensio
Vasa previa: diagnosis and management
Keywords: تشخیص پیش از تولد; cesarean delivery; color Doppler imaging; neonatal death; periventricular leukomalacia; prenatal diagnosis; vasa previa;
Skeletal dysplasia with bowing long bones: Proposed flowchart for prenatal diagnosis with case demonstration
Keywords: تشخیص پیش از تولد; bowing long bones; chondral plate histology; molecular biology; prenatal diagnosis; radiographic imaging;
Seven novel mutations of the SMPD1 gene in four Chinese patients with Niemann-Pick disease type A and prenatal diagnosis for four fetuses
Keywords: تشخیص پیش از تولد; Niemann-Pick disease type A (NPD-A); Acid sphingomyelinase; SMPD1 gene; Prenatal diagnosis