pseudomosaicism (MCPM).Table 11.23 The frequency of single‐cell pseudomosaicism (SCPM).Table 11.24 The frequency of trisomy chromosome in multiple‐cell pseudomosaicis...Table 11.25 The frequency of trisomy chromosome in single‐cell pseudomosaicism.Table 11.26 A summary of prenatally diagnosed cases with 46/47,+20.Table 11.27 Summary of prenatally diagnosed cases with 46/47,+20 cytogenetic co...Table 11.28 Summary of pregnancy outcomes and confirmation rate for trisomy mos...Table 11.29 Major sex chromosome mosaicism diagnosed in amniocytes.Table 11.30 45,X/46,XY mosaicism diagnosed in amniocytes.Table 11.31 Guidelines for the management of cases with suspected amniocyte mos...Table 11.32 Summary of chromosome mosaicism and the percentage of abnormal outc...Table 11.33 The frequency (%) ofde novo rearrangements diagnosed in newborns an...Table 11.34 The phenotypic outcome ofde novo balanced rearrangement diagnosed a...Table 11.35 The incidence of supernumerary marker chromosomes.Table 11.36 Risks for abnormality for a subgroup ofde novo supernumerary marker...Table 11.37 Incidence of uniparental disomy in carriers of Robertsonian translo...Table 11.38 The frequency of maternal cell contamination (MCC) in amniocytes.11 Chapter 12Table 12.1 The incidence of various karyotypes among females with Turner syndrom...
12 Chapter 13Table 13.1 Incidence and spectrum of chromosome abnormalities in prenatal diagn...Table 13.2 Select microdeletion/microduplication syndromes by frequency and ass...Table 13.3 Imprinted chromosomes associated with uniparental disomy syndromes.Table 13.4 Frequency of the most common microdeletion/microduplications observe...Table 13.5 Frequency of the most common microdeletions/microduplications observ...
13 Chapter 14Table 14.1 Selected RASopathies: genes and disordersTable 14.2 Selected conditions with repeat expansionsTable 14.3 Selected monogenic disorders with reported gonadal mosaicismTable 14.4 Examples of imprinting and human diseaseTable 14.5 Conditions, genes, and variants recommended for return of incidental ...
14 Chapter 15Table 15.1 Cystic fibrosis mutation carrier frequencies and detection rates in ...Table 15.2 Classes ofCFTR mutationsTable 15.3 R117H/polyT genotype–phenotype correlationsTable 15.4 The original AmericanCollege of Medical Genetics and Genomics core m...Table 15.5 Methods of mutation detection
15 Chapter 17Table 17.1 Congenital diaphragmatic hernia: treatment and outcomes101.Table 17.2 Etiologies of nonimmune hydrops fetalis (before introduction of whol...Table 17.3 Prevalence of renal anomalies detected by ultrasonography in 709,030...Table 17.4 Conditions associated with large and echogenic kidneys from Yulia an...Table 17.5 Differential diagnosis in short femur.Table 17.6 Most common findings in skeletal anomalies and their association.Table 17.7 Detection of nonchromosomal anomalies.Table 17.8 Most common sonomarker: positive and negative likelihood ratio (LR) ...
16 Chapter 18Table 18.1 Studies on prenatal screening and detection rates of congenital hear...Table 18.2 Different entities of lower urinary tract obstruction (LUTO).Table 18.3 Causes of ventriculomegaly and associated anomalies.Table 18.4 Causes of fetal ventriculomegaly with diagnostic consequences.
17 Chapter 21Table 21.1 Prenatal diagnosis of disorders of carbohydrate metabolism
18 Chapter 22Table 22.1 Impact of amino acid and related disorders on maternal and fetal hea...Table 22.2 Prenatal screening of amino acid disorders and related compounds.Table 22.3 Ultrasound abnormalities in selected amino acid disorders.
19 Chapter 23Table 23.1 Molecular bases of the mucopolysaccharidosesTable 23.2 Genetic disorders where the primary block leads to multiple lysosoma...Table 23.3 Core presenting clinical features of the various mucopolysaccharidos...Table 23.4 Secondary pathogenic cascades in the mucopolysaccharidosesTable 23.5 Current approved enzyme replacement therapy products for the mucopol...
20 Chapter 24Table 24.1 The mitochondrial fatty acid beta‐oxidation deficienciesTable 24.2 The peroxisomal fatty acid beta‐oxidation deficiencies
21 Chapter 25Table 25.1 Monogenic lipoprotein‐associated disordersTable 25.2 Lysosomal disorders of lipid metabolismTable 25.3 Defects in the biosynthesis of glycosphingolipidsTable 25.4 Neuronal ceroid lipofuscinoses
22 Chapter 26Table 26.1 Pathogens particularly associated with defects in each of the major ...Table 26.2 Immunologic tests to define primary defects in individuals suspected...Table 26.3 Classification of genes associated with selected primary immunodefic...
23 Chapter 27Table 27.1 α‐Thalassemias: interactions and indications for prenatal diagnosis ...Table 27.2 β‐Thalassemias and β‐globin gene disorders: interactions and indicat...Table 27.3 The interactions and indications for prenatal diagnosis of Hb E diso...Table 27.4 Sickle cell disorders: interactions and indications for prenatal dia...Table 27.5 Comparison of various heterozygous conditions.Table 27.6 Genotypes associated with borderline Hb A2 levels: a guideline of re...Table 27.7 The methods for the molecular diagnosis of the hemoglobinopathies th...Table 27.8 Globin gene deletion mutations diagnosable by gap‐polymerase chain r...Table 27.9 Distribution of the common β‐thalassemia mutations expressed as perc...
24 Chapter 28Table 28.1 Disorders of folate and cobalamin metabolism
25 Chapter 29Table 29.1 The Quintero classification system for twin‐to‐twin transfusion synd...Table 29.2 Proposed clinical score for the antenatal diagnosis of lower urinary...Table 29.3 Prognostic urine values used in the selection of fetuses for possibl...Table 29.4 The inclusion and exclusion criteria for the prospective Management ...
26 Chapter 33Table 33.1 Resources for parents and healthcare providers3.
27 Chapter 34Table 34.1 Recommendations for prenatal diagnosis of congenital toxoplasmosis.Table 34.2 Prenatal treatment of toxoplasmosis.Table 34.3 Estimated annual public health impact of congenital cytomegalovirus ...Table 34.4 Fetal infection with rubella virus according to the stage of gestati...Table 34.5 Congenital varicella syndrome: clinical features and their relative ...
28 Chapter 35Table 35.1 Selected legal cases involving the birth of children with genetic di...
List of Illustrations
1 Chapter 1Figure 1.1 Total baseline birth prevalence of rare single‐gene disorders by Wo...Figure 1.2 Median age at death of people with Down syndrome by sex (upper), by...Figure 1.3 Shown are the 16 pathogenic variants reported in the ACTG2 gene and...
2 Chapter 2Figure 2.1 Scheme demonstrating the principle of preimplantation genetic analy...Figure 2.2 Preimplantation genetic testing for de novo tuberous sclerosis* typ...Figure 2.3 Present standards of preimplantation genetic analysis for aneuploid...Figure 2.4 Mosaicism for monosomy 3 detected by next‐generation sequencing (NG...Figure 2.5 Next‐generation sequence‐based testing for translocation 46,XX, t(6...
3 Chapter 3Figure 3.1 The coelomic and amniotic fluid spaces during the first trimester o...Figure 3.2 The uptake of 3H‐glucose in microvilli prepared from (a) fetal inte...Figure 3.3 A comparison of the various disaccharidase activities in amniotic f...
