UID:
almafu_9960117466002883
Format:
1 online resource (ix, 374 pages) :
,
digital, PDF file(s).
Edition:
First edition.
ISBN:
9781316553886
,
1316553884
,
9781316551929
,
131655192X
,
9781107585843
,
1107585848
Series Statement:
Advanced skills series
Uniform Title:
Fetal medicine (Kumar)
Content:
Based on the curriculum of the Royal College of Obstetricians and Gynaecologists' Advanced Training Skills Module in Fetal Medicine, this book provides a comprehensive knowledge base for all doctors practising in obstetrics and maternal-fetal medicine worldwide. It acts as a reference source for the many changing concepts in fetal medicine and is well-illustrated with images of normal and abnormal findings in pregnancy that will facilitate proper understanding of normal and pathological fetal development. Coverage includes embryology, fetal physiology; fetal anomalies; fetal diseases; prescribing and teratogenesis in pregnancy; termination of pregnancy; fetal growth and wellbeing; multiple pregnancy; the placenta and amniotic fluid; and diagnostic and therapeutic invasive procedures. Readers will benefit from the theoretical knowledge and vast clinical experience of the internationally renowned authorship. Overall this book will prepare you for dealing with congenital abnormalities detected during pregnancy, including the organization and supervision of screening programmes for structural and chromosomal anomalies.
Note:
Title from publisher's bibliographic system (viewed on 05 Apr 2016).
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Cover -- Half-title -- Series information -- Title page -- Copyright information -- Table of contents -- List of contributors -- Preface -- Section 1 Genetics and antenatal screening -- Chapter 1 Genetics of fetal anomalies -- Types and classification of genetic disorders -- Constitutional chromosome disorders -- Numerical abnormalities -- Structural abnormalities -- Single-gene disorders -- Multifactorial disease -- Somatic genetic diseases -- Epigenetic disorders -- Structure of the genome -- Chromosome structure -- Gene structure and function -- Genome organization -- Types of mutation -- Large-scale rearrangements -- Point mutations -- Expanding trinucleotide repeats -- Organization of genetic services -- Detecting chromosome abnormalities: methods -- Karyotyping -- Fluorescent in situ hybridization -- Quantitative fluorescent polymerase chain reaction (PCR-based copy number analysis) -- Microarray-comparative genome hybridization -- Detecting chromosome abnormalities: protocols -- Detecting single-gene disorders -- Testing using linked polymorphisms including exclusion testing -- NIPT using cffDNA: current usage and future applications -- Example scenarios -- References -- Bibliography -- Acknowledgments -- Chapter 2 Antenatal counseling -- Advanced maternal age -- Previous pregnancy with fetal aneuploidy -- Patient or family member with a known genetic disorder -- Chromosomal disorders -- Balanced translocations -- Inversions -- Supernumerary marker chromosomes (SMCs) -- Single-gene disorders -- Autosomal dominant -- Autosomal recessive disorders -- X-linked disorders -- Y-linked disorders -- Mitochondrial DNA disorders -- Chromosome abnormalities detected unexpectedly at prenatal diagnosis -- Family history of congenital anomaly or mental retardation -- Ultrasound-detected fetal abnormality -- Carrier screening based on ethnicity.
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Consanguinity -- Maternal diseases -- References -- Bibliography -- Chapter 3 Antenatal screening for fetal anomalies -- Criteria for implementing screening tests -- Pretest counseling -- Principles of screening tests -- Screening for neural tube defects -- Screening for Down's syndrome -- Maternal age -- Tests used for Down's syndrome screening -- First-trimester screening (11-14 weeks) -- Nuchal translucency -- Cystic hygroma -- Fetal nasal bone -- Tricuspid regurgitation -- Ductus venosus Doppler -- The combined screening test -- Second-trimester serum screening -- Rationale for selection of the serum analyates -- Human chorionic gonadotropin -- Alpha-fetoprotein -- Unconjugated estriol -- Pregnancy associated plasma protein-A -- Inhibin A -- Affected pregnancies -- Factors affecting the screening results -- Role of the midtrimester scan in screening for aneuploidy -- Sonographic signs associated with trisomy 21, 18 and 13 -- Trisomy 21 -- Trisomy 18 -- Trisomy 13 -- Interpretation of results and calculation of risk -- Renal pyelectasis -- Echogenic bowel -- Short femur and humerus -- Echogenic cardiac foci -- Cardiac anomalies -- Calculation of risk based on second-trimester sonography -- Limitations of genetic sonogram -- Current recommendations -- Noninvasive prenatal testing -- Techniques for cffDNA detection -- Limitations -- Cystic fibrosis -- Screening for hemoglobinopathies -- Laboratory tests for sickle cell disease and thalassemia -- Screening for infections -- Asymptomatic bacteriuria -- Rubella -- Hepatitis B -- Human immunodeficiency virus -- Syphilis -- Tests used to screen for syphilis -- Tests used to diagnose syphilis -- Asymptomatic bacterial vaginosis -- Chlamydia trachomatis -- Group B Streptococcus -- Hepatitis C virus -- Toxoplasma -- Cytomegalovirus -- References -- Section 2 Embryology, fetal physiology and fetal anatomy.
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Chapter 4 Embryology for fetal medicine -- Stages of development -- Cleavage stage -- Embryonic period -- Nervous system -- Brain -- Spinal cord -- Skull -- Clinical relevance -- Skeletal system -- Vertebral column -- Axial system -- Face and pharyngeal arches -- Face -- Heart -- Clinical relevance -- Fetal circulation -- Diaphragm -- Respiratory system -- Abdominal wall -- Gastrointestinal system -- Urogenital system -- Genital system -- Clinical relevance -- Bibliography -- Chapter 5 Ultrasound assessment of normal fetal anatomy -- Prerequisites for an ultrasound examination -- First-trimester fetal anatomy scan -- Safety -- Algorithm for a structural survey in early pregnancy -- Brain -- Neck -- Face -- Heart -- Abdomen -- Spine -- Limbs -- Limitations -- The routine second-trimester scan -- Diagnostic value of routine ultrasound scan in the second trimester -- Fetal biometry -- Head circumference and biparietal diameter -- Algorithm for structural survey in the second trimester -- Brain -- Face -- Thorax -- Heart -- Abdomen -- Spine -- Extremities/appendicular skeleton -- Renal system -- External genitalia -- Extended examination -- Brain -- Face -- Thorax -- Kidneys -- Abdomen -- Extremities -- References -- Section 3 Fetal anomalies -- Chapter 6 Fetal central nervous system anomalies -- Ventriculomegaly -- Key counseling points -- Neural tube defects -- Key counseling points -- Midline anomalies -- Key counseling points -- Cystic and cyst-like abnormalities of the posterior fossa -- Key counseling points -- Destructive cerebral lesions -- Microcephaly -- Intracranial cysts and tumors -- Vascular abnormalities -- Cortical malformations -- Summary -- References -- Chapter 7 Fetal face and neck anomalies -- Cleft lip and palate -- Diagnosis -- Cause -- Management -- Outcome -- Recurrence -- Micrognathia (small jaw) -- Diagnosis -- Management.
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Outcome -- Nuchal translucency, nuchal thickness and cystic hygroma -- Diagnosis -- Hypertelorism and hypotelorism -- References -- Chapter 8 Congenital heart disease in the fetus -- Fetal cardiovascular anomaly scan -- Ultrasound appearance of major cardiac anomalies and differential diagnosis -- Normal fetal circulation -- Outline of antenatal and postnatal management of major cardiac abnormalities -- Intracardiac shunts that can be detected in four-chamber view -- Ventricular septal defect -- Complete atrioventricular septal defect -- Anomalous pulmonary venous connection -- Outflow tract abnormalities -- TOF and double outlet right ventricle -- Pulmonary atresia -- Transposition of the great arteries -- Truncus arteriosus -- Stenotic (obstructive) lesions -- Hypoplastic left heart syndrome -- Aortic stenosis or atresia -- Coarctation of the aorta -- Interrupted aortic arch -- Inlet valve abnormalities -- Tricuspid atresia -- Mitral atresia -- Ebstein's anomaly -- Double inlet left ventricle -- Pathology and epidemiology -- Pathology and incidence of major cardiac anomalies, risk factors (including family history) and associated ... -- Recurrence risk of heart defects -- Specific genetic disorders associated with CHD -- Antenatal management and outcome of arrhythmia -- Premature atrial contractions -- Bradycardia and heart block -- Supraventricular tachycardia and atrial flutter -- Ventricular tachycardia -- References -- Chapter 9 Fetal thoracic anomalies -- Embryology and normal lung development -- At birth -- Ultrasound of the normal thorax -- Ultrasound of thoracic malformations -- Lung biometry and blood flow studies -- Congenital diaphragmatic hernia -- Prognosis -- Initial management -- In utero treatment -- Delivery and neonatal care -- Congenital cystic adenomatoid malformation of the lung -- Prognosis.
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Antenatal diagnosis and initial management -- Subsequent management -- In utero treatment -- Delivery and neonatal care -- Bronchopulmonary sequestration -- Intralobar lesions -- Extralobar lesions -- Imaging -- Antenatal diagnosis and initial management -- Subsequent management -- In utero treatment -- Delivery and neonatal care -- Congenital lobar emphysema -- Antenatal diagnosis -- Subsequent management -- In utero treatment -- Delivery and neonatal care -- Bronchogenic cysts -- Imaging -- Antenatal diagnosis and initial management -- Subsequent management -- In utero treatment -- Delivery and neonatal care -- Pleural effusion and chylothorax -- Imaging -- Antenatal diagnosis and initial management -- Subsequent management -- In utero treatment -- Delivery and neonatal care -- Pulmonary agenesis, aplasia and hypoplasia -- Antenatal diagnosis and initial management -- In utero treatment -- Delivery and neonatal care -- Other lung malformations -- Abnormal lung development -- Pulmonary isomerism -- Polyalveolar lobe -- Vascular malformation -- Pulmonary arteriovenous malformation -- Scimitar syndrome -- Alveolar capillary dysplasia -- Lymphatic malformation -- Pulmonary lymphangiectasis -- Lung tumors -- Lung cyst -- Hamartoma /teratoma -- Imaging -- Laryngeal malformations -- Laryngeal atresia -- Antenatal diagnosis and initial management -- Delivery and neonatal care -- Laryngeal cysts -- Laryngeal lymphangioma -- References -- Chapter 10 Fetal abdomen and abdominal wall anomalies -- The anterior abdominal wall -- Exomphalos (omphalocoele) -- Diagnosis -- Management -- Neonatal management -- Recurrence -- Gastroschisis -- Diagnosis -- Management -- Neonatal management -- Recurrence -- Gastrointestinal atresias -- Esophageal atresia and tracheoesophageal fistula -- Duodenal atresias -- Small bowel atresias -- Large bowel atresias.
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Intrabdominal cysts.
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English
Additional Edition:
ISBN 9781107064348
Additional Edition:
ISBN 1107064341
Language:
English
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