In Utero Pediatrics: Research & Practice

Foreword
Contents
Editors and Contributors
Associate Editors
Academic Secretaries
Contributors
1: Overview of In Utero Pediatrics
	1.1	 Background of the Development of In Utero Pediatrics
	1.2	 Concept and Scope of In Utero Pediatrics
	1.3	 Future Development of In Utero Pediatrics
	References
2: The Early Life Plan Program
	2.1	 DOHaD Theory and 1000 Days in Early Life
		2.1.1	 DOHaD
		2.1.2	 1000 Days in Early Life
	2.2	 Birth Cohorts
		2.2.1	 International Birth Cohorts
			2.2.1.1	 International Birth Cohort Consortium
			2.2.1.2	 Birth Cohort Consortium of Asia (BiCCA)
		2.2.2	 Shanghai Birth Cohort
		2.2.3	 Early Life Plan (ELP) Program
			2.2.3.1	 Observation Indicators of the Study
			2.2.3.2	 Study Design
			2.2.3.3	 Inclusion Criteria
			2.2.3.4	 Study Schedule
	2.3	 Achievements of Cohort Studies
		2.3.1	 Child Early Growth and Development
			2.3.1.1	 Study on the Early Growth and Development Trajectory of Chinese Children
			2.3.1.2	 Study on Early Growth and Development of SGA Infants
			2.3.1.3	 Study on Mechanisms Related to Early Growth and Development
		2.3.2	 Childhood Obesity
		2.3.3	 Allergic Diseases in Children
			2.3.3.1	 Pregnancy Factors and Childhood Asthma
			2.3.3.2	 Perinatal Factors and Childhood Asthma
		2.3.4	 Child Neurodevelopment
		2.3.5	 Child Cardiovascular Health
	References
3: In Utero Pediatrics in Maternal-Fetal Medicine
	3.1	 Development of Maternal-Fetal Medicine
	3.2	 Role of Maternal-Fetal Medicine Specialists in Diagnosis and Treatment of Fetal Structural Abnormalities
		3.2.1	 Prenatal Screening for Fetal Structural Abnormalities
		3.2.2	 Prenatal Diagnosis of Fetal Structural Abnormalities
		3.2.3	 Principles and Classification of In Utero Treatment of Fetal Structural Abnormalities
		3.2.4	 Pregnancy and Delivery Management of Fetal Structural Abnormalities
		3.2.5	 Care for “M” Cannot Be Ignored
	3.3	 New Research Field
	References
4: Effects of Maternal Environmental Exposure on Early Life Growth and Development
	4.1	 Overview
	4.2	 Effects of Maternal Exposure to Environmental Endocrine-Disrupting Chemicals on the Growth and Development in Early Life
		4.2.1	 Perfluoroalkyl Substances
			4.2.1.1	 Population Exposure Level of Perfluoroalkyl Substances
			4.2.1.2	 Effects of Maternal Exposure to Perfluoroalkyl Substances on the Growth and Development in Early Life
		4.2.2	 Phenols
			4.2.2.1	 Population Exposure Level of Environmental Phenolic Endocrine-Disrupting Chemicals
			4.2.2.2	 Effects of Maternal Exposure to Environmental Phenolic Endocrine-Disrupting Chemicals on the Growth and Development in Early Life
		4.2.3	 Effects of Maternal Exposure to Polybrominated Diphenyl Ethers on Early Life Growth and Development
			4.2.3.1	 Population Exposure Level of Polybrominated Diphenyl Ethers
			4.2.3.2	 Effects of Maternal Exposure to Polybrominated Diphenyl Ethers on the Growth and Development in Early Life
		4.2.4	 Effects of Maternal Exposure to Phthalates on the Growth and Development in Early Life
			4.2.4.1	 Population Exposure Level of Phthalates
			4.2.4.2	 Effects of Maternal Exposure to Phthalates on the Growth and Development in Early Life
	4.3	 Effects of Maternal Exposure to Heavy Metals on the Growth and Development in Early Life
		4.3.1	 Lead
			4.3.1.1	 Population Exposure Level of Lead
			4.3.1.2	 Effects of Maternal Exposure to Lead on the Growth and Development in Early Life
		4.3.2	 Mercury
			4.3.2.1	 Population Exposure Level of Mercury
			4.3.2.2	 Effects of Maternal Exposure to Mercury on the Growth and Development in Early Life
		4.3.3	 Arsenic
			4.3.3.1	 Population Exposure Level of Arsenic
			4.3.3.2	 Effects of Maternal Exposure to Arsenic on the Growth and Development in Early Life
	4.4	 Effects of Maternal Exposure to Air Pollutants on the Growth and Development in Early Life
		4.4.1	 Particulate Matters
			4.4.1.1	 Population Exposure Level of Particulate Matters
			4.4.1.2	 Effects of Maternal Exposure to Particulate Matters on the Growth and Development in Early Life
		4.4.2	 Nitrogen Oxides
			4.4.2.1	 Population Exposure Level of Nitrogen Oxides
			4.4.2.2	 Effects of Maternal Exposure to Nitrogen Oxides on the Growth and Development in Early Life
		4.4.3	 Polycyclic Aromatic Hydrocarbons
			4.4.3.1	 Population Exposure Level of Polycyclic Aromatic Hydrocarbons
			4.4.3.2	 Effects of Maternal Exposure to Polycyclic Aromatic Hydrocarbons on the Growth and Development in Early Life
		4.4.4	 Tobacco Smoke
			4.4.4.1	 Population Exposure Level of Tobacco Smoke
			4.4.4.2	 Effects of Maternal Exposure to Tobacco Smoke on the Growth and Development in Early Life
	4.5	 Prospects
	References
5: Effects of Maternal Internal Environment on Early Life Growth and Development
	5.1	 Overview
	5.2	 Effects of Maternal Internal Environment on Early Life Growth and Development
		5.2.1	 Effects of Gestational Hyperglycemia on Early Life Growth and Development
			5.2.1.1	 Short-Term Effects of Gestational Hyperglycemia on the Offspring
			5.2.1.2	 Long-Term Effects of Gestational Hyperglycemia on the Offspring
			5.2.1.3	 Changes in Placental Function in Women with Gestational Hyperglycemia
			5.2.1.4	 Gestational Hyperglycemia and Metabolic Disorders
		5.2.2	 Effects of Thyroid Hormones on Offspring During Pregnancy
			5.2.2.1	 Overview
			5.2.2.2	 Intrauterine Thyroid Hormone
			5.2.2.3	 Classification and Diagnosis of Gestational Thyroid Dysfunction
			5.2.2.4	 Factors Affecting Intrauterine Thyroid Hormone Levels
			5.2.2.5	 Adverse Pregnancy Outcomes Associated with Maternal Thyroid Dysfunction
			5.2.2.6	 Intervention and Treatment of Gestational Thyroid Dysfunction
			5.2.2.7	 Clinical Cases: Pregnancy Outcome and Neonatal Follow-Up Results from a Case of Severe Gestational Hypothyroidism
		5.2.3	 Short-Term and Long-Term Effects of Gestational Hypertensive Disorders on the Fetus
			5.2.3.1	 Pathophysiological Mechanism of Hypertensive Disorders in Pregnancy
			5.2.3.2	 Effects of Gestational Hypertension and Preeclampsia on the Fetus
			5.2.3.3	 Long-Term Effects of Gestational Hypertension and Preeclampsia on the Offspring
		5.2.4	 Effects of Intrauterine Hyperandrogenism on the Offspring of Pregnant Women with Polycystic Ovary Syndrome (PCOS)
			5.2.4.1	 Origins of Intrauterine Hyperandrogenism in PCOS
			5.2.4.2	 Intrauterine Hyperandrogenism in the Pathogenesis and Development of PCOS
			5.2.4.3	 Effects of Intrauterine Hyperandrogenism in Women with PCOS on Adverse Pregnancy Outcomes and the Offspring
				5.2.4.3.1 Effects of Intrauterine Hyperandrogenism in Women with PCOS on Adverse Pregnancy Outcomes
				5.2.4.3.2 Effects of Intrauterine Hyperandrogenism on the Offspring of PCOS Women
					Effects of Intrauterine Hyperandrogenism on the Reproductive System of the Offspring
					Effects of Intrauterine Hyperandrogenism on the Metabolic System of the Offspring
					Effects of Intrauterine Hyperandrogenism on the Cardiovascular System of the Offspring
					Effects of Intrauterine Hyperandrogenism on the Nervous System of the Offspring
			5.2.4.4	 Prevention and Intervention of PCOS
	References
6: Fetal Growth and Its Trajectory
	6.1	 Large for Gestational Age and Macrosomia
		6.1.1	 Epidemiology
		6.1.2	 Prenatal Diagnosis
			6.1.2.1	 Ultrasonography
			6.1.2.2	 Non-ultrasonic Method
		6.1.3	 Complications and Potential Long-Term Effects
			6.1.3.1	 Complications
			6.1.3.2	 Potential Long-Term Effects
		6.1.4	 Neonatal Management
		6.1.5	 Research Findings
	6.2	 Fetal Growth Restriction and Small for Gestational Age
		6.2.1	 Epidemiology
		6.2.2	 Prenatal Diagnosis
			6.2.2.1	 Screening Test
			6.2.2.2	 Diagnosis
			6.2.2.3	 Biological Measures
			6.2.2.4	 Protein Biomarkers
		6.2.3	 Complications and Potential Long-Term Effects
			6.2.3.1	 Complications
			6.2.3.2	 Potential Long-Term Effects
		6.2.4	 Neonatal Management
		6.2.5	 Research Findings
	References
7: Circulatory System
	7.1	 Overview
		7.1.1	 Normal Development of In Utero Cardiovascular System Structure
			7.1.1.1	 Development of the Heart
			7.1.1.2	 Development of Blood Vessels
			7.1.1.3	 Characteristics of Fetal Circulation
			7.1.1.4	 Structural Abnormalities of In Utero Cardiovascular System
		7.1.2	 Development and Conduction Abnormalities of In Utero Cardiovascular Conduction System
			7.1.2.1	 Embryonic Development of In Utero Cardiac Conduction System
			7.1.2.2	 Development Abnormalities of In Utero Cardiac Conduction System
		7.1.3	 Screening and Diagnosis of In Utero Cardiovascular Disease
			7.1.3.1	 Screening and Diagnosis of In Utero Cardiovascular Structural Abnormalities
	7.2	 Clinical Practice
		7.2.1	 In Utero Intervention and Sequential Treatment of Structural Abnormalities of Cardiovascular System
			7.2.1.1	 Aortic Stenosis
			7.2.1.2	 Pulmonary Atresia with Intact Ventricular Septum
			7.2.1.3	 Total Anomalous Pulmonary Venous Connection
		7.2.2	 In Utero Intervention and Sequential Treatment of Conduction Abnormalities of Cardiovascular System
			7.2.2.1	 Case 1 of In Utero Intervention and Sequential Treatment of Fetal Tachyarrhythmia
			7.2.2.2	 Case 2 of In Utero Intervention and Sequential Treatment of Fetal Tachyarrhythmia
			7.2.2.3	 Case 3 of In Utero Intervention and Sequential Treatment of Fetal Tachyarrhythmia
			7.2.2.4	 Case 4 of In Utero Intervention and Sequential Treatment of Fetal Tachyarrhythmia
			7.2.2.5	 Case 1 of In Utero Intervention and Sequential Treatment of Fetal Immune-Related First-Degree Atrioventricular Block
			7.2.2.6	 Case 1 of In Utero Intervention and Sequential Treatment of Fetal Immune-Related Second-Degree Atrioventricular Block
			7.2.2.7	 Case 2 of In Utero Intervention and Sequential Treatment of Fetal Second-Degree Atrioventricular Block
		7.2.3	 In Utero Origin and Early Management of Cardiovascular Health
	7.3	 Research Progress
		7.3.1	 Research Progress on Structural Abnormalities of Cardiovascular System
			7.3.1.1	 Fetal Factors
			7.3.1.2	 Maternal Factors
			7.3.1.3	 Environmental Pollutants
		7.3.2	 Research Progress on Conduction Abnormalities of Cardiovascular System
	References
8: The Nervous System
	8.1	 Introduction
		8.1.1	 Normal Development of In Utero Nervous System
			8.1.1.1	 In Utero Neurostructural Development
			8.1.1.2	 In Utero Brain Function Development
		8.1.2	 In Utero Etiology of Neurodevelopmental Disorders
			8.1.2.1	 Genetic Factors
			8.1.2.2	 In Utero Environmental Factors
		8.1.3	 Common Diseases and Pathogenic Factors of Abnormal Fetal Structural Development
	8.2	 Clinical Practice
		8.2.1	 Periconceptional Folic Acid Supplementation for Prevention and Treatment of Neural Tube Defects
		8.2.2	 In Utero Screening and Diagnosis of Down’s Syndrome
		8.2.3	 Management and Sequential Treatment of Fetal Cerebral Hemorrhage During Perinatal Period
			8.2.3.1	 Case Report
				8.2.3.1.1 Medical History
				8.2.3.1.2 Treatment
			8.2.3.2	 Case Analysis
	8.3	 Research Progress
		8.3.1	 Prenatal Risk Factors
		8.3.2	 Early Intervention
			8.3.2.1	 Perinatal Folic Acid Supplementation for Prevention and Treatment of Autism Spectrum Disorders
			8.3.2.2	 In Utero Fetal Surgery
				8.3.2.2.1 Encephalocele/Meningomyelocele
				8.3.2.2.2 Hydrocephalus
	References
9: The Digestive System
	9.1	 Fetal Upper Gastrointestinal Obstructions
		9.1.1	 Overview
		9.1.2	 Typical Cases
			9.1.2.1	 Case Presentation
			9.1.2.2	 Prenatal Diagnosis
			9.1.2.3	 Concurrent Malformations
			9.1.2.4	 Surgical Treatment
			9.1.2.5	 Prognosis
		9.1.3	 Research Progress
	9.2	 Esophageal Atresia
		9.2.1	 Overview
		9.2.2	 Typical Cases
			9.2.2.1	 Case Reports
			9.2.2.2	 Prenatal Diagnosis
			9.2.2.3	 Treatments
			9.2.2.4	 Prognosis
		9.2.3	 Research Progress
	9.3	 Congenital Small Intestinal Atresia
		9.3.1	 Overview
		9.3.2	 Typical Cases
			9.3.2.1	 Case
			9.3.2.2	 Prenatal Diagnosis
			9.3.2.3	 Prenatal Intervention
			9.3.2.4	 Postnatal Assessment and Management
			9.3.2.5	 Treatments
			9.3.2.6	 Prognosis
		9.3.3	 Research Progress
	9.4	 Congenital Anorectal Malformation
		9.4.1	 Overview
		9.4.2	 Typical Cases
			9.4.2.1	 Prenatal Examination
			9.4.2.2	 Postpartum Conditions
			9.4.2.3	 Surgical Treatment
		9.4.3	 Prenatal Diagnosis
			9.4.3.1	 Ultrasonographic Findings
			9.4.3.2	 MRI Findings
		9.4.4	 Prenatal Intervention and Assessment During Neonatal Period
		9.4.5	 Postnatal Management, Surgical Treatment, and Prognosis in the Neonatal Period
		9.4.6	 Research Progress
	9.5	 Hirschsprung Disease
		9.5.1	 Overview
		9.5.2	 Typical Cases
			9.5.2.1	 Prenatal Examination
			9.5.2.2	 Postnatal Conditions
			9.5.2.3	 Surgical Treatment
		9.5.3	 Prenatal Diagnosis
			9.5.3.1	 Ultrasonographic Findings
			9.5.3.2	 Fetal MRI Findings
		9.5.4	 Prenatal Intervention and Assessment During Neonatal Period
		9.5.5	 Postnatal Bowel Management, Surgical Treatment, and Prognosis
		9.5.6	 Research Progress
	9.6	 Congenital Short Bowel Syndrome
		9.6.1	 Overview
		9.6.2	 Typical Cases
		9.6.3	 Research Progress
	9.7	 Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
		9.7.1	 Overview
		9.7.2	 Typical Cases
		9.7.3	 Research Progress
	9.8	 Choledochal Cyst
		9.8.1	 Overview
		9.8.2	 Typical Cases
			9.8.2.1	 Cases
			9.8.2.2	 Prenatal Diagnosis
			9.8.2.3	 Prenatal Intervention
			9.8.2.4	 Postnatal Assessment and Management
			9.8.2.5	 Treatments
			9.8.2.6	 Prognosis
		9.8.3	 Research Progress
	References
10: Respiratory System
	10.1	 Obstruction of the Upper Airway
		10.1.1	 Introduction
		10.1.2	 Case Reports
			10.1.2.1	 Case 1
			10.1.2.2	 Case 2
			10.1.2.3	 Prenatal Diagnosis
			10.1.2.4	 Risk Assessment of the Fetus
			10.1.2.5	 Treatments
			10.1.2.6	 Prognosis
		10.1.3	 State-of-Art of the Research
	10.2	 Congenital Diaphragmatic Hernia
		10.2.1	 Introduction
		10.2.2	 In Utero Diagnosis and Sequential Therapy of CDH
			10.2.2.1	 In Utero Diagnosis and Treatment of Twin Pregnancy with One CDH Fetus
			10.2.2.2	 In Utero Diagnosis and Treatment of CDH with Genetic Abnormalities
			10.2.2.3	 In Utero Diagnosis and Sequential Therapy of CDH
		10.2.3	 Research Progress
			10.2.3.1	 Prenatal Examination and Assessment
			10.2.3.2	 In Utero Intervention
			10.2.3.3	 Intrapartum Management
			10.2.3.4	 Postpartum Management
			10.2.3.5	 Long-Term Follow-Ups
	10.3	 Congenital Cystic Lung Lesions (CCLLs)
		10.3.1	 Introduction
			10.3.1.1	 Classification
			10.3.1.2	 Congenital Pulmonary Airway Malformations (CPAM)
			10.3.1.3	 Bronchopulmonary Sequestration (BPS)
			10.3.1.4	 Other Rare Lesions
		10.3.2	 Prenatal Diagnosis
			10.3.2.1	 Prenatal Diagnostic Techniques and Standards
			10.3.2.2	 Risk Assessment of Fetus
		10.3.3	 Treatments
			10.3.3.1	 Prenatal Intervention
			10.3.3.2	 Postpartum Sequential Therapy
		10.3.4	 Case Report
			10.3.4.1	 Case 1
		10.3.5	 Research Progress
	10.4	 Congenital Chylothorax
		10.4.1	 Introduction
			10.4.1.1	 Etiology
			10.4.1.2	 Clinical Manifestations and Evaluation
			10.4.1.3	 Diagnosis
			10.4.1.4	 Treatments
				10.4.1.4.1 Fetal Treatments
				10.4.1.4.2 Neonatal Treatments
		10.4.2	 Cases Reports
			10.4.2.1	 Laboratory Tests
		10.4.3	 Research Progress in Prenatal Diagnosis
	References
11: Urinary System
	11.1	 Introduction
		11.1.1	 Normal Embryonic Development of the Urinary System
		11.1.2	 Common Diseases and Etiological Factors for Congenital Anomalies of Kidney and Urinary Tract
			11.1.2.1	 Renal Cystic Disease
			11.1.2.2	 Urinary Obstructive Disorders
			11.1.2.3	 Renal Morphological and Positional Disorders
			11.1.2.4	 Genetic Syndromes Associated with Urinary System Abnormalities
	11.2	 Clinical Practice
		11.2.1	 Congenital Hydronephrosis (CHn)
			11.2.1.1	 Introduction
			11.2.1.2	 Case Report
			11.2.1.3	 Prenatal Diagnosis
			11.2.1.4	 Risk Assessment of the Fetus
			11.2.1.5	 Treatments
		11.2.2	 Posterior Urethral Valves (PUV)
			11.2.2.1	 Introduction
			11.2.2.2	 Case Report
			11.2.2.3	 Prenatal Diagnosis
			11.2.2.4	 Risk Assessment of the Fetus
			11.2.2.5	 Treatments
	11.3	 Studies
		11.3.1	 In Utero Surgeries of Urinary System
		11.3.2	 Urinary System Shunt Procedures
		11.3.3	 Fetal Surgeries with Cystoscopy
		11.3.4	 Discussion
		11.3.5	 Sequential Managements of the Urinary System
	References
12: Endocrine System and Inherited Metabolic Diseases
	12.1	 Introduction
		12.1.1	 Endocrine Disorders
		12.1.2	 Inherited Metabolic Diseases
	12.2	 Clinical Practice
		12.2.1	 In Utero Diagnosis and Sequential Treatment of Congenital Hypothyroidism
			12.2.1.1	 In Utero Diagnosis of Congenital Hypothyroidism
			12.2.1.2	 The Case of In Utero Diagnosis of Congenital Hypothyroidism
			12.2.1.3	 In Utero Treatment of Congenital Hypothyroidism
		12.2.2	 In Utero Diagnosis and Sequential Treatment of Amino Acid Metabolism Disorders
			12.2.2.1	 The Cases of In Utero Diagnosis of Amino Acid Metabolism Disorders
			12.2.2.2	 The Methods of In Utero Diagnosis of Amino Acid Metabolism Disorders
		12.2.3	 In Utero Diagnosis and Sequential Treatment of Organic Acidemia
			12.2.3.1	 The Cases of In Utero Diagnosis of Organic Acidemia
				12.2.3.1.1 Methylmalonic Acidemia
				12.2.3.1.2 Propionic Acidemia
				12.2.3.1.3 Glutaric Acidemia Type I
			12.2.3.2	 The Methods of In Utero Diagnosis of Organic Acidemia
			12.2.3.3	 In Utero Treatment of Organic Acidemia
		12.2.4	 In Utero Diagnosis and Treatment of Fatty Acid Oxidation Disorders
			12.2.4.1	 The Methods of In Utero Diagnosis of Fatty Acid Oxidation Disorders
		12.2.5	 In Utero Diagnosis and Sequential Treatment of Lysosomal Disorders
			12.2.5.1	 The Cases of In Utero Diagnosis of Lysosomal Disorders
				12.2.5.1.1 Mucopolysaccharidosis Type II
				12.2.5.1.2 Gaucher’s Disease
				12.2.5.1.3 Niemann-Pick Disease
			12.2.5.2	 The Methods of In Utero Diagnosis of Lysosomal Disorders
		12.2.6	 In Utero Diagnosis and Sequential Treatment of Glycogen Storage Diseases
		12.2.7	 The Methods of In Utero Diagnosis of Glycogen Storage Diseases
	12.3	 Research Progress
		12.3.1	 Progress in Intrauterine Treatment of Endocrine Disorders and Inherited Metabolic Diseases
			12.3.1.1	 In Utero Cell Transplantation
			12.3.1.2	 In Utero Gene Therapy
	References
13: Motor System
	13.1	 Introduction
		13.1.1	 Early Development of the Spine and Spinal Cord
		13.1.2	 Formation and Differentiation of Somites
		13.1.3	 Development of Central Nervous System
		13.1.4	 Ossification of Vertebral Body
		13.1.5	 Classification of Congenital Scoliosis
		13.1.6	 Evaluation of Patients with Congenital Scoliosis
		13.1.7	 Imaging Examination of Congenital Scoliosis
		13.1.8	 Congenital Spinal Deformity Concurrent with Other Deformities
	13.2	 Clinical Practice
		13.2.1	 Intrauterine Surgical Intervention for Hemivertebral Malformation
		13.2.2	 Conservative Treatment of Hemivertebral Deformity: Case Report
		13.2.3	 Surgical Treatment of Hemivertebral Malformation: Case Reports (Figs. 13.11, 13.12, 13.13 and 13.14)
	13.3	 Research Progress
		13.3.1	 Natural History of Hemivertebral Deformity
		13.3.2	 Etiological Study of Hemivertebral Deformity
		13.3.3	 Progress in Clinical Treatment of Hemivertebral Deformity
			13.3.3.1	 Observation
			13.3.3.2	 Brace
			13.3.3.3	 Growth Regulation
			13.3.3.4	 Growth Retention/Stimulation
			13.3.3.5	 Reconstruction
			13.3.3.6	 Prospects of New Directions, Technologies, and Methods
	References
14: Reproductive System
	14.1	 Normal Embryonic Development of Genitalia and Related Factors
		14.1.1	 Main Factors Related to the Development and Differentiation of Testis and External Genitalia
			14.1.1.1	 SRY
			14.1.1.2	 SOX9
			14.1.1.3	 NR5A1
			14.1.1.4	 NROB1
			14.1.1.5	 GATA4 and ZFPM2
			14.1.1.6	 DMRT1
		14.1.2	 Major Factors Involved in Differentiation During Normal Development of the Ovary, Fallopian Tube, and Uterus
			14.1.2.1	 WNT4
			14.1.2.2	 RSPO1
			14.1.2.3	 FOXL2
	14.2	 Common Disorders and Pathogenic Genes of Congenital Reproductive System Anomalies
		14.2.1	 46, XY Gonadal Dysgenesis-Related Disorders
			14.2.1.1	 Testicular Hypoplasia
				14.2.1.1.1 Complete Gonadal Dysgenesis (Swyer Syndrome)
				14.2.1.1.2 Partial Gonadal Dysgenesis
				14.2.1.1.3 Common Disorders Leading to Male Gonadal Dysgenesis
					Dax-1 Duplication Mutation
					Wt-1 Defect Syndrome
					SOX9 Defect
					SF-1 Defect
			14.2.1.2	 Disorders in Androgen Synthesis or Androgen Dysfunction
				14.2.1.2.1 Androgen Synthesis Disorder
					5α-reductase Deficiency
					StAR Deficiency
					3β-hydroxysteroid Dehydrogenase Deficiency
					17α-hydroxylase/17,20-lyase Deficiency
					17β-hydroxysteroid Dehydrogenase (HSD17B3) Deficiency
				14.2.1.2.2 Androgen Dysfunction (Complete/Partial Androgen Insensitivity Syndrome)
				14.2.1.2.3 Leydig Cell Anergy Syndrome
				14.2.1.2.4 Persistent Müllerian Duct Syndrome (PMDS)
				14.2.1.2.5 Hypogonadotropic Hypogonadism
		14.2.2	 46, XX Gonadal Dysgenesis Disorders
			14.2.2.1	 Ovarian Dysgenesis
				14.2.2.1.1 Ovotesticular Development Disorders
				14.2.2.1.2 Testicular Sexual Development Disorder
				14.2.2.1.3 Gonadal Dysgenesis
			14.2.2.2	 Clitoral Hypertrophy Due to Hyperandrogenism
				14.2.2.2.1 Fetal Source Androgen Overload (21-hydroxylase Deficiency)
				14.2.2.2.2 Fetal Placental-Derived Androgen Excess (Aromatase Deficiency, P450 Oxidoreductase)
					Aromatase Deficiency
					P450 Oxidoreductase Deficiency
				14.2.2.2.3 Excess Maternal Androgens (Luteoma, Intake of Androgen Drugs)
					Maternal Luteoma
					Krukenberg’s Tumor of Ovary
					Exogenous Androgen
			14.2.2.3	 Others (Cloacal Exstrophy, Vaginal Atresia, MURCS Association, and Other Syndromes)
	14.3	 Clinical Practice
		14.3.1	 Intrauterine Sex Determination and Management of a Fetus with Sex Chromosome Abnormality Found Prenatally by Noninvasive Method
			14.3.1.1	 Current Medical History
			14.3.1.2	 Prenatal Genetic Counseling
			14.3.1.3	 Laboratory Tests and Results
				14.3.1.3.1 Results of Chromosome Microarray Analysis of Amniotic Fluid Cells
				14.3.1.3.2 Results of Karyotype Analysis of Cultured Amniotic Fluid Cells
				14.3.1.3.3 Genetic Test of Sex Determining Gene (SRY)
				14.3.1.3.4 Fluorescence In Situ Hybridization (FISH) Results
			14.3.1.4	 Obstetrical Ultrasound Examination
			14.3.1.5	 Post-Testing Consultation and Discussion
			14.3.1.6	 Follow-Up
		14.3.2	 Intrauterine Diagnosis and Management of Twin Pregnancy in Patients with Congenital Adrenal Hyperplasia
			14.3.2.1	 Current Medical History
			14.3.2.2	 Prenatal Genetic Counseling
			14.3.2.3	 Laboratory Tests and Results
				14.3.2.3.1 Results of Genetic Test of CYP21A2 and SRY Genes in Amniotic Fluid Cells
				14.3.2.3.2 Findings of Fetal Ultrasound (Fig. 14.6)
			14.3.2.4	 Post-Testing Consultation and Discussion
			14.3.2.5	 Follow-Up
	14.4	 Research Progress
		14.4.1	 Common Environmental Risk Factors for Reproductive System Disorders of Intrauterine Origin
		14.4.2	 Progress in Prevention and Control Strategies for Hereditary Reproductive Disorders
	References
15: Magnetic Resonance Imaging (MRI) of the Fetus
	15.1	 Introduction
		15.1.1	 Development History and Current Status of Prenatal Diagnostic Techniques of Fetal MRI
		15.1.2	 Safety and Scope of Fetal MRI
			15.1.2.1	 Safety of Fetal MRI
			15.1.2.2	 Scope of Fetal MRI
		15.1.3	 Protocol of Fetal MRI
			15.1.3.1	 Timing of Fetal MRI
			15.1.3.2	 Preparation Before Fetal MRI
			15.1.3.3	 Selection of Fetal MRI Sequences
	15.2	 Clinical Practice
		15.2.1	 Congenital Diaphragmatic Hernia
			15.2.1.1	 Case 1
			15.2.1.2	 Case 2
			15.2.1.3	 Case 3
		15.2.2	 Agenesis of Corpus Callosum
		15.2.3	 Dandy-Walker Malformation
	15.3	 Research Progress
		15.3.1	 Prospects for the Fetal MRI
			15.3.1.1	 Progress in MRI Research on the Fetal Central Nervous System
			15.3.1.2	 Progress in MRI Research on Fetal Respiratory System
			15.3.1.3	 Progress in MRI Research on Fetal Cardiovascular System
			15.3.1.4	 Other Systems
		15.3.2	 MRI Study on the Relationship Between Placenta and Fetal Development
	References
16: In Utero Genetic Screening and Diagnosis
	16.1	 Introduction
		16.1.1	 Prenatal Genetic Screening
			16.1.1.1	 Chromosome Aneuploidy
			16.1.1.2	 Chromosomal Microdeletion/Microduplication Syndrome
			16.1.1.3	 Limitations of the Method
		16.1.2	 Prenatal Genetic Diagnosis
			16.1.2.1	 Techniques of Molecular Genetic Diagnosis
			16.1.2.2	 Biochemical Genetic Diagnosis
			16.1.2.3	 Cytogenetic Diagnosis
				16.1.2.3.1 Karyotyping Technique
				16.1.2.3.2 Fluorescence In Situ Hybridization
				16.1.2.3.3 Chromosomal Microarray Technique
				16.1.2.3.4 Optical Genome Mapping Technique
	16.2	 Clinical Practice
		16.2.1	 Case 1: Fetal Chromosome Abnormality Due to Paternal Nucleolus Organizer Region (NOR) Translocation
		16.2.2	 Case 2: The Results of Noninvasive Screening Suggested that Fetal Abnormality was Originated from the Reciprocal Chromosomal Translocation in the Mother
			16.2.2.1	 Case History
			16.2.2.2	 Lab Examination
			16.2.2.3	 Results
			16.2.2.4	 Discussion and Clinical Significance
		16.2.3	 Case 3: Multiple Cases of Angelman Syndrome in Fetus and Family Caused by Maternal Imprinting Center Deletion
			16.2.3.1	 Present Medical History
			16.2.3.2	 Probands in the Family
			16.2.3.3	 Laboratory Tests and Results
			16.2.3.4	 Treatment, Follow-up, and Outcome
			16.2.3.5	 Discussion
	16.3	 Research Progress
		16.3.1	 Noninvasive Screening for Monogenic Diseases
			16.3.1.1	 Droplet Digital PCR (ddPCR)
			16.3.1.2	 Targeted Next-Generation Sequencing
			16.3.1.3	 Circulating Single-Molecule Amplification and Resequencing Technology (cSMART)
			16.3.1.4	 NIPD-Single Cell Sequencing
		16.3.2	 In Utero Gene Therapy
			16.3.2.1	 Gene Vectors and Delivery Methods
			16.3.2.2	 Gene Editing
			16.3.2.3	 Research Status
			16.3.2.4	 Ethical Issues
			16.3.2.5	 Outlook
	References
17: Pediatric Rehabilitation
	17.1	 Introduction
		17.1.1	 Pediatric Rehabilitation for Diseases Originated In Utero
		17.1.2	 Rehabilitation Assessments
			17.1.2.1	 Pain Assessment
			17.1.2.2	 Feeding Assessment
			17.1.2.3	 Reflex Assessment
			17.1.2.4	 Developmental Assessment
		17.1.3	 Rehabilitation Approaches
			17.1.3.1	 Rehabilitation During Pregnancy
				17.1.3.1.1 Physical Activity
				17.1.3.1.2 Hydrotherapy
				17.1.3.1.3 Music Therapy
				17.1.3.1.4 Nutritional Intervention
			17.1.3.2	 Ultra-Early Rehabilitation for Infants
				17.1.3.2.1 Positioning
				17.1.3.2.2 Exercise Therapy
				17.1.3.2.3 Feeding Training
				17.1.3.2.4 Pulmonary Rehabilitation
				17.1.3.2.5 Touch Therapy
				17.1.3.2.6 Home-Based Rehabilitation Guidance
	17.2	 Clinical Practice
		17.2.1	 Ultra-Early Rehabilitation for Infants at High Risk of Cerebral Palsy
			17.2.1.1	 Case
			17.2.1.2	 Positioning
			17.2.1.3	 Exercise Therapy
			17.2.1.4	 Feeding Training
			17.2.1.5	 Touch Therapy
			17.2.1.6	 Hydrotherapy
			17.2.1.7	 Early Sensory Intervention
			17.2.1.8	 Follow-Up Management and Home-Based Rehabilitation Education
		17.2.2	 Ultra-Early Rehabilitation for Congenital Muscular Torticollis
			17.2.2.1	 Case
			17.2.2.2	 Ultra-Early Rehabilitation
				17.2.2.2.1 Passive Neck Movement
				17.2.2.2.2 Active Neck Movement
				17.2.2.2.3 Symmetrical Trunk Movement
				17.2.2.2.4 Home-Based Rehabilitation Guidance
				17.2.2.2.5 Massage Therapy
		17.2.3	 Ultra-Early Rehabilitation for Congenital Heart Disease
			17.2.3.1	 Case
			17.2.3.2	 Preoperative Rehabilitation
				17.2.3.2.1 Positioning
				17.2.3.2.2 Touch Therapy
				17.2.3.2.3 Feeding Intervention
				17.2.3.2.4 Passive Joint Movement
			17.2.3.3	 Postoperative Rehabilitation
				17.2.3.3.1 Exercise Therapy
				17.2.3.3.2 Sensory Integration
			17.2.3.4	 Home-Based Rehabilitation
				17.2.3.4.1 Developmental Training
				17.2.3.4.2 Physical Activity
	17.3	 Research Progress
		17.3.1	 Risk Factors for Common Diseases Originated In Utero and Requiring Pediatric Rehabilitation
			17.3.1.1	 Risk Factors for Cerebral Palsy
			17.3.1.2	 Risk Factors for Congenital Muscular Torticollis
			17.3.1.3	 Risk Factors Affecting the Outcome of Congenital Heart Disease
		17.3.2	 Prevention and Early Rehabilitation for Common Diseases Originated In Utero and Requiring Pediatric Rehabilitation
			17.3.2.1	 Rehabilitation Prevention for Cerebral Palsy
			17.3.2.2	 Rehabilitation Prevention for Congenital Muscular Torticollis
			17.3.2.3	 Rehabilitation Prevention for Congenital Heart Disease
	References
18: Multi-Disciplinary Team in In Utero Pediatrics and Case Management
	18.1	 Multi-Disciplinary Team (MDT) in Fetal Medicine and in Utero Pediatrics
		18.1.1	 MDT
		18.1.2	 MDT in Fetal Medicine and In Utero Pediatrics
		18.1.3	 Role and Function of In Utero Pediatrics in MDT
		18.1.4	 Model and Process of MDT in In Utero Pediatrics
			18.1.4.1	 MDT Led by Fetal Medicine Specialists and Supported by In Utero Pediatric Subspecialists
			18.1.4.2	 MDT Led by In Utero Pediatric Subspecialists and Supported by Fetal Medicine Specialists
		18.1.5	 Form of MDT in In Utero Pediatrics
	18.2	 Case Management Model in the Diagnosis and Treatment of In Utero Pediatric Diseases
		18.2.1	 Case Management
		18.2.2	 Case Management Team in In Utero Pediatrics
		18.2.3	 Process of Case Management in In Utero Pediatrics
	18.3	 Other Supports for MDT in In Utero Pediatrics and Case Management
	References