Prenatal Diagnosis

Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome

Genetic counseling / Humans / Mutation / Male / Hyperuricemia / Uric Acid / Spectrum / Prenatal Diagnosis / X chromosome / Molecular Diagnosis / Uric Acid / Spectrum / Prenatal Diagnosis / X chromosome / Molecular Diagnosis

Prenatal diagnosis of pyruvate carboxylase deficiency

Pregnancy / Humans / Liver / Female / Male / Amniotic Fluid / Skin / Biotin / Clinical Sciences / Newborn Infant / Prenatal Diagnosis / Fetus / Gestational Age / Citrulline / Human Fibroblasts / Protein Binding / Amniotic Fluid / Skin / Biotin / Clinical Sciences / Newborn Infant / Prenatal Diagnosis / Fetus / Gestational Age / Citrulline / Human Fibroblasts / Protein Binding

Antenatal presentation of carnitine palmitoyltransferase II deficiency

Genetics / DNA / Pregnancy / Humans / Kidney / Mutation / Female / Male / Jews / Clinical Sciences / Family Health / Calcinosis / Prenatal Diagnosis / Fetus / Fetal death / Mutation / Female / Male / Jews / Clinical Sciences / Family Health / Calcinosis / Prenatal Diagnosis / Fetus / Fetal death

Myxedematous coma in a laboring woman suggested a pre-eclamptic coma: a case report

Obstetrics / Coma / Pregnancy / Case Report / Humans / Female / Differential Diagnosis / Newborn Infant / Gynecology / Adult / Public health systems and services research / Prenatal Diagnosis / Pre Eclampsia / Myxedema / Female / Differential Diagnosis / Newborn Infant / Gynecology / Adult / Public health systems and services research / Prenatal Diagnosis / Pre Eclampsia / Myxedema

Neuroblastomes de diagnostic échographique anténatal

Ultrasound / Ultrasonography / Prenatal Diagnosis / Adrenal Gland / Clinical Signs

Hyperoncotic enhancement of pulmonary growth after fetal tracheal occlusion: a comparison between dextran and albumin

Pregnancy / Liver / Sheep / Female / Animals / Pediatric Surgery / Pediatric / Lung / Lung Development / Analysis of Variance / Survival Rate / Trachea / Prenatal Diagnosis / Congenital Diaphragmatic Hernia / Lung Volume Measurements / Hydrostatic Pressure / Pediatric Surgery / Pediatric / Lung / Lung Development / Analysis of Variance / Survival Rate / Trachea / Prenatal Diagnosis / Congenital Diaphragmatic Hernia / Lung Volume Measurements / Hydrostatic Pressure

Complete large bowel duplication with paraduodenal cyst: prenatal sonographic features

Gestational diabetes / Pregnancy / Humans / Hypertension / Female / Prenatal / Clinical Sciences / Newborn Infant / Adult / Prenatal Diagnosis / Gestational Age / Colon / Prenatal / Clinical Sciences / Newborn Infant / Adult / Prenatal Diagnosis / Gestational Age / Colon

DNA sequencing of maternal plasma to detect Down syndrome: An international clinical validation study

Genetics / Down Syndrome / Pregnancy / Humans / Female / Karyotyping / Clinical Sciences / Adult / Reproducibility of Results / Prenatal Diagnosis / Sensitivity and Specificity / Case Control Studies / Karyotyping / Clinical Sciences / Adult / Reproducibility of Results / Prenatal Diagnosis / Sensitivity and Specificity / Case Control Studies

Prenatal diagnosis of an intrathoracic gastric duplication: a case report

Pregnancy / Case Report / Humans / Duplicate Detection / Ultrasonography / Female / Thorax / Male / Pediatric Surgery / Differential Diagnosis / Newborn Infant / Prenatal Diagnosis / Stomach / Female / Thorax / Male / Pediatric Surgery / Differential Diagnosis / Newborn Infant / Prenatal Diagnosis / Stomach

Application of Fetal DNA Detection in Maternal Plasma: A Prenatal Diagnosis Unit Experience

Cystic Fibrosis / Fluorescence / DNA / real time PCR / Pregnancy / Humans / Mutation / Case Study / Female / Polymerase Chain Reaction / DNA sequence design / Prenatal Diagnosis / Huntington disease / Fetus / Clinical Application / Humans / Mutation / Case Study / Female / Polymerase Chain Reaction / DNA sequence design / Prenatal Diagnosis / Huntington disease / Fetus / Clinical Application

Prenatal diagnosis of rhizomelic chondrodysplasia punctata due to isolated alkyldihydroacetonephosphate acyltransferase synthase deficiency

Pregnancy / Humans / Cartilage / Female / Male / Karyotyping / Amniocentesis / Clinical Sciences / Adult / Prenatal Diagnosis / Gestational Age / Human Fibroblasts / Karyotyping / Amniocentesis / Clinical Sciences / Adult / Prenatal Diagnosis / Gestational Age / Human Fibroblasts
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