In Utero Pediatrics: Research & Practice

Description:

This book is to provide readers with an overview of in utero Pediatrics, an interdisciplinary medicine focusing on sequential and comprehensive care for fetuses and children who have functional and/or structural disorders originated from in utero. It covers congenital disorders in cardiology, neurosurgery, urology, general surgery, endocrine genetics, and other related topics. Each chapter starts with the basic theory, illustrates clinical practices on certain congenital disorders, and summaries recent research and advances in the field. Written by experts with wealthy experiences, this case-based book will be a valuable reference for pediatricians and perinatologists, as well as those who are interested in this field.

Table of contents :

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