Prenatal Diagnosis

Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma

Genomics / Multidisciplinary / Single molecule / Down Syndrome / DNA / Pregnancy / Humans / Female / Aneuploidy / Mothers / Prenatal Diagnosis / Genome sequence / Fetus / DNA sequence / Pregnancy / Humans / Female / Aneuploidy / Mothers / Prenatal Diagnosis / Genome sequence / Fetus / DNA sequence

Cystic hygroma: Comparison between prenatal and postnatal diagnosis

Ultrasound / England / Pregnancy / Humans / Ultrasonography / Female / Male / Pediatric Surgery / Infant / Follow-up studies / Karyotyping / Bit Error Rate / Newborn Infant / Survival Rate / Prenatal Diagnosis / Congenital malformation / Gestational Age / Sensitivity and Specificity / Chromosomal abnormalities / Female / Male / Pediatric Surgery / Infant / Follow-up studies / Karyotyping / Bit Error Rate / Newborn Infant / Survival Rate / Prenatal Diagnosis / Congenital malformation / Gestational Age / Sensitivity and Specificity / Chromosomal abnormalities

Fetendo-clip: A fetal endoscopic tracheal clip procedure in a human fetus

Pregnancy / Humans / Female / Male / Pediatric Surgery / Pediatric / Newborn Infant / Adult / Trachea / Prenatal Diagnosis / Congenital Diaphragmatic Hernia / Preterm Labor / Constriction / Pediatric / Newborn Infant / Adult / Trachea / Prenatal Diagnosis / Congenital Diaphragmatic Hernia / Preterm Labor / Constriction

Prenatal and Postnatal Characterization of a De Novo Xq22.1 Terminal Deletion

Genetics / Pregnancy / Humans / Genetic Testing / Female / Clinical Sciences / Newborn Infant / Adult / Prenatal Diagnosis / X chromosome inactivation / Genetic / Clinical Sciences / Newborn Infant / Adult / Prenatal Diagnosis / X chromosome inactivation / Genetic

Twin anemia polycythemia sequence from a prenatal perspective

Rheology / Belgium / Pregnancy / Humans / Female / Clinical Sciences / Newborn Infant / Prevalence / Polycythemia / Adult / Prenatal Diagnosis / Syndrome / Oligohydramnios / Middle Cerebral Artery / Clinical Sciences / Newborn Infant / Prevalence / Polycythemia / Adult / Prenatal Diagnosis / Syndrome / Oligohydramnios / Middle Cerebral Artery

DNA-based prenatal diagnosis for very-long-chain acyl-CoA dehydrogenase deficiency

DNA / Pregnancy / Humans / Female / Clinical Sciences / Prenatal Diagnosis

Transferrin receptor expression in fetal blood mononuclear cells

Pregnancy / Humans / Female / Transferrin Receptor / Prenatal Diagnosis / Gestational Age

Prenatal diagnosis of segmental spinal dysgenesis

Genetics / Spine / Pregnancy / Humans / Female / Differential Diagnosis / Clinical Sciences / Gynecology / Adult / Prenatal Diagnosis / Neural Tube Defects / Differential Diagnosis / Clinical Sciences / Gynecology / Adult / Prenatal Diagnosis / Neural Tube Defects

Prenatal diagnosis and postnatal management of congenital laryngeal atresia in a preterm infant

Magnetic Resonance Imaging / Treatment Outcome / Humans / Female / Male / Infant / Newborn Infant / Adult / Trachea / Prenatal Diagnosis / Postnatal Care / Infant / Newborn Infant / Adult / Trachea / Prenatal Diagnosis / Postnatal Care

Preimplantation diagnosis for ornithine transcarbamylase deficiency

Polymorphism / Preimplantation genetic diagnosis / Prenatal Diagnosis / Polar Body / Metabolic Disorder / Termination of Pregnancy / Embryos / Nested PCR / Termination of Pregnancy / Embryos / Nested PCR

Preimplantation and prenatal genetic diagnosis of aromatic L-amino acid decarboxylase deficiency with an amplification refractory mutation system-quantitative polymerase chain reaction

Genetics / Pregnancy / Humans / qPCR / Genetic Testing / Mutation / Taiwan / Female / Polymerase Chain Reaction / Arms / Preimplantation genetic diagnosis / Prenatal Diagnosis / Amino Acid Profile / Amplification Refractory Mutation System / Quantitative polymerase chain reaction / Mutation / Taiwan / Female / Polymerase Chain Reaction / Arms / Preimplantation genetic diagnosis / Prenatal Diagnosis / Amino Acid Profile / Amplification Refractory Mutation System / Quantitative polymerase chain reaction

Prenatal diagnosis of a Currarino triad

Genetics / Ultrasound / Literature Review / Ultrasonography / Prenatal Diagnosis / Bacterial meningitis

Peroxisomal acyl‐CoA‐oxidase deficiency: Two new cases

Genetics / Magnetic Resonance Imaging / DNA / Brain / Pregnancy / Humans / Female / American / Clinical Sciences / Newborn Infant / Consanguinity / Prenatal Diagnosis / Peroxisomes / Base Sequence / Humans / Female / American / Clinical Sciences / Newborn Infant / Consanguinity / Prenatal Diagnosis / Peroxisomes / Base Sequence

Neuroblastomes de diagnostic échographique anténatal

Ultrasound / Pregnancy / Humans / Ultrasonography / Female / Male / Neuroblastoma / Prenatal Diagnosis / Adrenal Gland / Clinical Signs / Male / Neuroblastoma / Prenatal Diagnosis / Adrenal Gland / Clinical Signs
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