Prenatal Diagnosis

Cariótipo fetal: podemos confiar sempre no seu resultado? Fetal karyotype: can we always trust its result?

Case Report / Prenatal Diagnosis / Chromosomal abnormalities

Fetal karyotype: can we always trust its result? Cariótipo fetal: podemos confiar sempre no seu resultado?

Case Report / Prenatal Diagnosis / Chromosomal abnormalities

Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency

Algorithms / Molecular Biology / Evidence Based Practice / Treatment / Comorbidity / Pregnancy / Humans / Mutation / Female / Clinical / Hormones / Male / Genetic determinism / Etiology / Phenotype / Clinical Sciences / Newborn Infant / Genotype / Deficiency / Prenatal Diagnosis / Clinical Endocrinology / Deficit / Pregnancy / Humans / Mutation / Female / Clinical / Hormones / Male / Genetic determinism / Etiology / Phenotype / Clinical Sciences / Newborn Infant / Genotype / Deficiency / Prenatal Diagnosis / Clinical Endocrinology / Deficit

Congenital Adrenal Hyperplasia due to 21Hydroxylase Deficiency

Physiology / Nursing / Kinetics / Quality of life / Pediatric nursing / Adolescent / Multidisciplinary / Screening / Cortisol / Pregnancy / Humans / Child / Mutation / Puberty / Female / Male / Disorders of sex development / Mutation Detection / Gene Conversion / Phenotype / Enzyme / Clinical Sciences / Newborn Infant / Optometry and Ophthalmology / Genotype / Adult / Congenital Adrenal Hyperplasia / Public health systems and services research / Prenatal Diagnosis / Amino Acid Sequence / Base Sequence / Structure activity Relationship / Enzymatic Activity / Glucocorticoids / Biochemistry and cell biology / Adolescent / Multidisciplinary / Screening / Cortisol / Pregnancy / Humans / Child / Mutation / Puberty / Female / Male / Disorders of sex development / Mutation Detection / Gene Conversion / Phenotype / Enzyme / Clinical Sciences / Newborn Infant / Optometry and Ophthalmology / Genotype / Adult / Congenital Adrenal Hyperplasia / Public health systems and services research / Prenatal Diagnosis / Amino Acid Sequence / Base Sequence / Structure activity Relationship / Enzymatic Activity / Glucocorticoids / Biochemistry and cell biology

Complete atrioventricular canal

Pulmonary Hypertension / Pregnancy / Humans / Female / Male / Infant / Differential Diagnosis / Newborn Infant / Prognosis / Prenatal Diagnosis / Infant / Differential Diagnosis / Newborn Infant / Prognosis / Prenatal Diagnosis

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

Recomendaciones de buenas prácticas para el diagnóstico genético de la distrofia miotónica

Benchmarking / Software Design / Pregnancy / Humans / Genetic Testing / Mutation / Haplotypes / Female / Male / Polymerase Chain Reaction / Myotonic Dystrophy / Duchenne Muscular Dystrophy / Preimplantation genetic diagnosis / RNA-binding proteins / Prenatal Diagnosis / Molecular Diagnostic Techniques / Dystrophin / Medicina Clinica / Early Diagnosis / Genetic Markers / Mutation / Haplotypes / Female / Male / Polymerase Chain Reaction / Myotonic Dystrophy / Duchenne Muscular Dystrophy / Preimplantation genetic diagnosis / RNA-binding proteins / Prenatal Diagnosis / Molecular Diagnostic Techniques / Dystrophin / Medicina Clinica / Early Diagnosis / Genetic Markers

Recomendaciones de buenas prácticas para el diagnóstico genético de la distrofia miotónica

Benchmarking / Software Design / Pregnancy / Humans / Genetic Testing / Mutation / Haplotypes / Female / Male / Polymerase Chain Reaction / Myotonic Dystrophy / Duchenne Muscular Dystrophy / Preimplantation genetic diagnosis / RNA-binding proteins / Prenatal Diagnosis / Molecular Diagnostic Techniques / Dystrophin / Medicina Clinica / Early Diagnosis / Genetic Markers / Mutation / Haplotypes / Female / Male / Polymerase Chain Reaction / Myotonic Dystrophy / Duchenne Muscular Dystrophy / Preimplantation genetic diagnosis / RNA-binding proteins / Prenatal Diagnosis / Molecular Diagnostic Techniques / Dystrophin / Medicina Clinica / Early Diagnosis / Genetic Markers

Human immunodeficiency virus infection in pregnant women in Nigeria

Microbiology / Medical Microbiology / Pregnancy / Humans / Female / Gynecology and Obstetrics / Obstetrics Gynecology / Data Collection / Clinical Sciences / Newborn Infant / Fetal maternal medicine / Human immunodeficiency virus / Highly Active Antiretroviral Therapy / Pregnant Women / Human Milk / Prenatal Diagnosis / Prenatal Care / Pregnancy Outcome / Acquired immunodeficiency syndrome / Gynecology and Obstetrics / Obstetrics Gynecology / Data Collection / Clinical Sciences / Newborn Infant / Fetal maternal medicine / Human immunodeficiency virus / Highly Active Antiretroviral Therapy / Pregnant Women / Human Milk / Prenatal Diagnosis / Prenatal Care / Pregnancy Outcome / Acquired immunodeficiency syndrome

Diagnóstico prenatal de siameses toracoabdominopagos en el primer trimestre de gestación. Caso clínico

Ultrasound / Prenatal Diagnosis / Twin Pregnancy

Ultrasound prenatal diagnosis of a lateral facial cleft(Tessier number 7)

Ultrasound / Pregnancy / Humans / Female / Newborn Infant / Adult / Prenatal Diagnosis / Adult / Prenatal Diagnosis

Prenatal diagnosis of a large fetal cervical teratoma by three-dimensional ultrasonography: a case report

Pregnancy / Case Report / Humans / Ultrasonography / Female / Three Dimensional Imaging / Adult / Three Dimensional / Cesarean Section / Prenatal Diagnosis / Gestational Age / Teratoma / Tumor Growth / Three Dimensional Imaging / Adult / Three Dimensional / Cesarean Section / Prenatal Diagnosis / Gestational Age / Teratoma / Tumor Growth

Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome: A Case Report

Genetics / Gastroenterology / Pediatric Urology / Transgenic Mice / Case Report / Pediatric Surgery / Obstetrics and Gynaecology / Pediatric radiology / Acetylcholine / Clinical Sciences / Prenatal Diagnosis / Pediatric Surgery / Obstetrics and Gynaecology / Pediatric radiology / Acetylcholine / Clinical Sciences / Prenatal Diagnosis

Situación actual del diagnóstico prenatal no invasivo

Genetics / Quantitative PCR / Prenatal Diagnosis / Relative Abundance

Size Separation of Circulatory DNA in Maternal Plasma Permits Ready Detection of Fetal DNA Polymorphisms

Genetics / Polymorphism / Clinical Chemistry / DNA / real time PCR / Pregnancy / Humans / Medical Biotechnology / Female / Clinical / Plasma / Mothers / Y chromosome / Clinical Sciences / Prenatal Diagnosis / Gel electrophoresis / Fetus / DNA polymorphism / DNA sequence / Pregnancy / Humans / Medical Biotechnology / Female / Clinical / Plasma / Mothers / Y chromosome / Clinical Sciences / Prenatal Diagnosis / Gel electrophoresis / Fetus / DNA polymorphism / DNA sequence

Prenatal identification of fetal genetic traits

Genetics / DNA / Humans / Female / Male / Polymerase Chain Reaction / Lancet / Prenatal Diagnosis / Sensitivity and Specificity / Polymerase Chain Reaction / Lancet / Prenatal Diagnosis / Sensitivity and Specificity

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