Genetic Disorders and the Fetus. Группа авторов
Pulmonary and thoracic abnormalities Cardiovascular defects Abdominal wall defects Gastrointestinal anomalies Kidneys and urinary tract anomalies Skeletal anomalies Nuchal translucency Phenotypic expression in chromosome anomalies References
25 18 Prenatal Diagnosis and Management of Abnormal Fetal Development in the Third Trimester of Pregnancy Cardiac anomalies Echogenic lung lesions Anomalies of gastrointestinal tract and abdominal wall Urinary tract anomalies Central nervous system malformations References
26 19 Prenatal Diagnosis by Fetal Magnetic Resonance Imaging Introduction MRI of the fetal central nervous system MRI of non‐CNS fetal systems Conclusion References
27 20 Prenatal Diagnosis of Skeletal Dysplasias and Connective Tissue Disorders Prenatal sonographic diagnosis of skeletal dysplasias Abnormal fetal morphology as an unexpected finding Molecular testing during pregnancy Estimating the probability of recurrence Achondroplasia, thanatophoric dysplasia, and hypochondroplasia (FGFR3 disorders) Osteogenesis imperfecta Disorders due to defects in type II collagen (achondrogenesis type 2, hypochondrogenesis, and spondyloepiphyseal dysplasia congenita) Disorders due to defects in the diastrophic dysplasia sulfate transporter gene (achondrogenesis 1B, atelosteogenesis type 2, and diastrophic dysplasia) Joint dislocations: Larsen syndrome and connective tissue disorders Marfan syndrome and Marfan overlap disorders Acknowledgments References
28 21 Prenatal Diagnosis of Disorders of Carbohydrate Metabolism Introduction Glycogen storage diseases Disorders of galactose metabolism Disorders of fructose metabolism Disorders of gluconeogenesis Pentosuria Acknowledgments References
29 22 Disorders of Metabolism of Amino Acids and Related Compounds Introduction Inborn errors of metabolism Amino acid disorders Intoxication disorders Disorders of energy production Very rare amino acid disorders Disorders of proline metabolism Disorders of renal amino acid transport In conclusion References
30 23 The Mucopolysaccharidoses: Prenatal Diagnosis, Neonatal Screening and Emerging Therapies Introduction Disease and biochemical characteristics Prenatal diagnosis Clinical characteristics and disease pathogenesis Postnatal MPS therapeutics Newborn screening Fetal considerations Future directions References
31 24 Prenatal Diagnosis of the Peroxisomal and Mitochondrial Fatty Acid Oxidation Deficiencies Introduction Mitochondrial versus peroxisomal fatty acid beta‐oxidation Mitochondrial fatty acid beta‐oxidation disorders Secondary disorders of mitochondrial fatty acid oxidation Peroxisomal fatty acid beta‐oxidation disorders