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
Primary peroxisomal fatty acid oxidation disorders
Secondary disorders of peroxisomal fatty acid oxidation
References
32 25 Prenatal Diagnosis of Disorders of Lipid Metabolism Introduction Lipoprotein‐associated disorders Defects in the metabolism of glycosphingolipids GM1‐gangliosidosis/mucopolysaccharidosis IVB (Morquio B) GM2‐gangliosidoses Fabry disease Gaucher disease Metachromatic leukodystrophy Multiple sulfatase deficiency Krabbe disease (globoid cell leukodystrophy) Niemann–Pick disease Farber disease Lysosomal acid lipase deficiency: Wolman disease and cholesteryl ester storage disease The neuronal ceroid lipofuscinoses Acknowledgments References
33 26 Prenatal Diagnosis of Primary Immunodeficiency Diseases Family history Specific immune defects Lymphocyte deficiencies Antibody deficiencies Phagocyte deficiencies Defects with autoimmunity or immune dysregulation Complement deficiencies Additional syndromic immune defects References
34 27 Prenatal Diagnosis of the Hemoglobinopathies Introduction Clinical types α‐Thalassemia β‐Thalassemia Hb E disorders Sickle cell disorders Carrier screening Strategy for fetal diagnosis Approaches to prenatal diagnosis DNA diagnosis of the hemoglobinopathies Abnormal hemoglobins Diagnostic pitfalls and best practice for fetal diagnosis Summary References
35 28 Prenatal Diagnosis of Inherited Disorders of Folate and Cobalamin Metabolism Inborn errors of folate metabolism Inborn errors of cobalamin metabolism Prenatal diagnosis and fetal therapy References
36 29 Fetal Surgery Introduction Brief history of fetal surgery Ethical considerations Imaging principles for fetal intervention and surgical procedures Control of fetal pain Closed fetal therapies Conditions treated using fetoscopic procedures Congenital diaphragmatic hernia Tracheal occlusion in human fetuses Urinary tract obstruction Fetal pleural effusion Congenital cystic adenomatoid malformation Other conditions treated with fetoscopic procedures Selective termination in monochorionic gestation Open fetal surgery technique and complications Conditions treated with open fetal surgery Other
