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1 Chapter 1Table 1.1 The frequencies of genetic disorders in 1,169,873 births, 1952–1983³⁴ Table 1.2 Life expectancy with Down syndrome, between 1908–1981, to age 68 year...Table 1.3 Defects and complications associated with Down syndrome^{132 – 165}.Table 1.4 Single‐gene dominant disorders in offspring that are associated with ...Table 1.5 Genetic disorders in various ethnic groups.Table 1.6 Residual risk values for diseases in Ashkenazi Jewish populations.Table 1.7 Signs in females who are carriers of selected X‐linked recessive dise...Table 1.8 Selected examples of monogenic disorders with established somatic mos...Table 1.9 The frequency of emotions and somatic symptoms of 84 women and 68 men...

2 Chapter 2Table 2.1 List of conditions for which preimplantation genetic testing (PGT) wa...Table 2.2 Clinical outcome of PGT‐M performed by polar body approach.

3 Chapter 3Table 3.1 Amniotic fluid volume percentile values in relation to gestational ag...Table 3.2 Biochemical constituents and other characteristics of amniotic fluid ...Table 3.3 Trace elements in amniotic fluid (see also Table 3.5)Table 3.4 Hormones measured in amniotic fluid during the second or third trimes...Table 3.5 Examples of environmental drugs and chemicals in the fetal environmen...Table 3.6 Examples of toxicants reported in amniotic fluidTable 3.7 The classification of human second‐trimester amniotic fluid cells in ...

4 Chapter 4Table 4.1 Genomic and chromosomal defects affecting placental function and feta...

5 Chapter 6Table 6.1 Mean level in Down syndrome for each widely used marker, according to...Table 6.2 Mean α‐fetoprotein level in neural tube defect, according to gestatio...Table 6.3 Standard deviations and correlation coefficients of log₁₀ MoM values ...Table 6.4 Second‐trimester screening policies, according to hCG typeTable 6.5 First‐trimester screening using NT alone and combined with serum mark...Table 6.6 Sequential screening according to strategy, according to first‐trimes...Table 6.7 Model predicted AFP screening DR and FPR according to gestational age...Table 6.8 Addition of ultrasound nasal bone determination to first‐trimester po...Table 6.9 Addition of further serum markers to the Combined test, according to ...Table 6.10 Addition of ultrasound nuchal skin‐fold, nasal bone length, and pren...Table 6.11 Detection rate and false‐positive rate given final cut‐off risk^a for...Table 6.12 Previous Down syndrome pregnancy: detection rate and false‐positive ...Table 6.13 Mean level in unaffected twins and the expected mean in Down syndrom...Table 6.14 Edwards syndrome detection rate using a Down syndrome risk cut‐off a...

6 Chapter 7Table 7.1 Performance of cell‐free DNA screening for common aneuploidy and sex ...Table 7.2 Cell‐free DNA and positive predictive value.Table 7.3 Comparison of prenatal screening options for fetal aneuploidy⁴¹.Table 7.4 Cell‐free DNA screening for trisomy 21 in twin gestations.

7 Chapter 8Table 8.1 Selected studies reporting noninvasive prenatal diagnosis (NIPD) for ...

8 Chapter 9Table 9.1 Summary of collaborative amniocentesis studies.Table 9.2 Summary of selected studies on loss rate from chorionic villus sampli...Table 9.3 Fetal loss rates (<28 weeks) from trials comparing transabdominal ver...

9 Chapter 10Table 10.1 Pregnancy outcome in 100,000 consecutive cases after the detection o...Table 10.2 The efficiency of detection of neural tube defects using qualitative...Table 10.3 Practical false‐positive rates after amniotic fluid α‐fetoprotein as...Table 10.4 The odds of having a fetus with open spina bifida after positiveα...Table 10.5 The risks of neural tube defect (NTD) according to family history¹⁰⁵ Table 10.6 Syndromes and other disorders in which neural tube defects (NTDs) ha...Table 10.7 Selected complications in two original cohorts of 117 and 118 patien...

10 Chapter 11Table 11.1 Chromosomal abnormalities in liveborn babies.Table 11.2 Maternal age‐specific rates for Down syndrome and all chromosomal ab...Table 11.3 Estimates of spontaneous fetal loss rates subsequent to chorionic vi...Table 11.4 Crude maternal age‐specific rates (%) for chromosome abnormalities a...Table 11.5 The incidence ofde novo balanced structural rearrangements and super...Table 11.6 The frequency of chromosomal abnormalities in unselected spontaneous...Table 11.7 Autosomal trisomy in spontaneous abortions.Table 11.8 The frequency of chromosomal abnormalities in stillbirths and neonat...Table 11.9 Typical prenatal screening marker patterns for some specific chromos...Table 11.10 Frequency and types of chromosome abnormalities in fetuses with ult...Table 11.11 Ultrasound abnormalities and frequency of fetal aneuploidy.Table 11.12 Segregation products at the time of prenatal diagnosis when a paren...Table 11.13 Segregation in Robertsonian translocations^a.Table 11.14 Prenatal results for Robertsonian translocation involving a chromos...Table 11.15 Prenatal results for pericentric inversions (n = 173)^a.Table 11.16 Excess rates of Down syndrome and other aneuploidy in women who had...Table 11.17 Estimated excess second‐trimester risk for women who had a previous...Table 11.18 Definition and relative frequencies of different types of mosaicism...Table 11.19 The percentage of mosaicism excluded with 90, 95, and 99 percent co...Table 11.20 The percentage of mosiacism that will be detected with 95% probabil...Table 11.21 The frequency of mosaicism and pseudomosaicism.Table 11.22 The frequency of multiple‐cell 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...