Genetic Disorders and the Fetus. Группа авторов

5.5 Mechanisms for nonalcoholic hepatic steatosis (NAFLD). Increased fa...

      6 Chapter 8Figure 8.1 Methods for cell‐free DNA‐based noninvasive prenatal testing for si...

      7 Chapter 9Figure 9.1 Amniocentesis being performed under direct, continuous ultrasound s...Figure 9.2 The technique for amniocentesis in twin gestations. (a) Fluid is as...Figure 9.3 Amniocentesis being performed under direct, continuous ultrasound s...Figure 9.4 Chorionic villus sampling: transabdominal approach.Figure 9.5 Chorionic villus sampling: transcervical approach.Figure 9.6 Sonographically guided transcervical chorionic villus sampling. The...

      8 Chapter 10Figure 10.1 Changes in α‐fetoprotein (AFP) levels in fetal serum, amnioti...

      9 Chapter 13Figure 13.1 Karyotypes showing the common aneuplodies. (a) Trisomy 13 male (Pa...Figure 13.2 Interphase fluorescence in situ hybridization (FISH) for the commo...Figure 13.3 Chromosomal microarray analysis software showing copy number chang...Figure 13.4 Uniparental disomy (UPD) and mosaicism on chromosome 1 detected us...Figure 13.5 Detection of triploidy using a single‐nucleotide polymorphism (SNP...Figure 13.6 Example of size and probe thresholds for analysis of prenatal samp...Figure 13.7 Microarray resolution is governed by probe size and spacing. Gray ...Figure 13.8 The number of probes on a microarray impacts the incidence of vari...

      10 Chapter 16Figure 16.1 RNA “toxicity” models for fragile X‐associated tremor/ataxia syndr...Figure 16.2 Pedigree of family with FXS, premutation, FXPOI, and FXTAS involve...Figure 16.3 Estimated risk for expansion to the full‐mutation range of a trans...

      11 Chapter 17Figure 17.1 Sagittal plane of a fetus with sacral agenesis.Figure 17.2 Demonstrating anencephaly at 11 weeks of gestation in sagittal pla...Figure 17.3 Demonstrating anencephaly at 20 weeks of gestation.Figure 17.4 (a) Transverse section of the fetal head at the level of the septu...Figure 17.5 A fetus with spina bifida in the first trimester at 13 weeks of ge...Figure 17.6 Meckel–Gruber syndrome with the association of multicystic kidneys...Figure 17.7 A fetus with severe ventriculomegaly – hydrocephaly.Figure 17.8 A fetus with holoprosencephaly at 14.6 weeks of gestation.Figure 17.9 (a) Transverse and (b) coronal plane of corpus callosum agenesis a...Figure 17.10 (a) Transverse and (b) sagittal plane of Blake's pouch cyst in a ...Figure 17.11 Transverse plane of a fetus with a Dandy–Walker malformation.Figure 17.12 Fetus with a unilateral cleft lip and/or palate presenting at 19....Figure 17.13 Micrognathia demonstrated in a sagittal plane with the fetus show...Figure 17.14 Macrocystic congenital pulmonary airway malformation visible as a...Figure 17.15 Classic ultrasound finding in left congenital diaphragmatic herni...Figure 17.16 Bilateral pleural effusion on a transverse plane of the fetal tho...Figure 17.17 A fetus with hypoplastic left heart syndrome.Figure 17.18 Demonstrating a ventricular septal defect in transverse plane wit...Figure 17.19 Demonstrating an atrioventricular septal defect with the atrioven...Figure 17.20 Fetus with transposition of the great arteries presenting at 20.4...Figure 17.21 Outflow tract of the overriding aorta with ventricular septal def...Figure 17.22 Large omphalocele at 13 weeks of gestation containing liver.Figure 17.23 Gastroschisis in first trimester at 12.0 weeks of gestation. (a) ...Figure 17.24 (a) Transverse plane showing gastroschisis in the second trimeste...Figure 17.25 Body stalk anomaly at 13 weeks of gestation. (a) Mid‐sagittal pla...Figure 17.26 Body stalk anomaly at 10.3 weeks of gestation. (a, b) Mid‐sagitta...Figure 17.27 Bladder exstrophy with nonvisualization of the urinary bladder.Figure 17.28 The “pouch sign” in a fetus with esophageal atresia.Figure 17.29 “Double bubble” sign in a fetus with duodenal atresia demonstrate...Figure 17.30 Simple abdominal cyst in a female fetus.Figure 17.31 Bilateral hydronephrosis demonstrated in transverse plane (a) and...Figure 17.32 Unilateral multicystic dysplastic kidney demonstrated in transver...Figure 17.33 Polycystic kidney disease presenting two large hyperechogenic kid...Figure 17.34 Unilateral renal agenesis demonstrated in coronal plane.Figure 17.35 A fetus with achondroplasia with frontal bossing (a) and widening...Figure 17.36 Fetus with oesteogenesis imperfecta type II with a hypomineralize...Figure 17.37 Fetus with postaxial polydactyly at 20 weeks of gestation.Figure 17.38 Triploidy of maternal origin with severe asymmetric growth restri...

      12 Chapter 18Figure 18.1 Two‐dimensional gray scale and color Doppler echocardiography of f...Figure 18.2 Fetal heart rate, time intervals during cardiac cycle, and conduct...Figure 18.3 (a–c) A case of maternal anti‐SSa/SSb‐induced third‐degree atriove...Figure 18.4 Dextroposition of the fetal heart in left‐sided hydrothorax due to...Figure 18.5 An anomaly of the cardiac axis in tetralogy of Fallot. The axis of...Figure 18.6 (a) A case of hypoplastic left heart (HLH) mitral valve atresia/ao...Figure 18.7 (a) Transverse oblique plane of a fetal thorax with bronchopulmona...Figure 18.8 (a) Left‐sided microcystic congenital cystic adenomatatoid malform...Figure 18.9 (a) Longitudinal section of a fetus presenting with congenital hig...Figure 18.10 Left‐sided diaphragmatic hernia with the fetal stomach and the de...Figure 18.11 Typical image of polyhydramnios and absent stomach bubble in the ...Figure 18.12 (a) Double bubble phenomenon (dilated stomach and duodenum) at 32...Figure 18.13 Transverse section of the fetal abdomen showing a large omphaloce...Figure 18.14 (a) Transverse oblique section of the fetal abdomen at the level ...Figure 18.15 Typical images of lower urinary tract obstruction (LUTO). (a) Bil...Figure 18.16 (a, b) Examples of moderate to severe ventriculomegaly in the sec...Figure 18.17 (a–d) Typical cranial signs in open spina bifida. (a) Banana sign...Figure 18.18 (a, b) In alobar holoprosencephaly there is no interhemispheric f...Figure 18.19 (a) The arrangement of anterior horns and cavum septum pellucidum...Figure 18.20 (a, b) In schizencephaly there is a large holohemispheric cleft o...Figure 18.21 In the case of an absent cavum septum pellucidum there two separa...Figure 18.22 (a, b) Cerebellar findings in the oblique transcerebellar plane: ...

      13 Chapter 19Figure 19.1 Axial T2‐weighted images (a, c) and T1‐weighted images (b, d) at 2...Figure 19.2 (a) Axial T2‐weighted images showing corpus callosum agenesis at 2...Figure 19.3 (a, b) Axial T2‐weighted images showing toxoplasmosis at 27 weeks:...Figure 19.4 (a) Axial T2‐weighted images at 32 weeks: cervical cystic lymphang...Figure 19.5 (a) Sagittal T2‐weighted images at 30 weeks: huge sacro‐coccygeal ...

      14 Chapter 20Figure 20.1 Ultrasound and radiographic images of hypophosphatasia. The chest ...Figure 20.2 Ultrasound image from 18 weeks gestation shows a normal length sca...Figure 20.3 X‐ray of a 20‐week fetus with thanatophoric dysplasia displaying c...Figure 20.4 Growth curves showing the typical pattern of a fetus with achondro...Figure 20.5 Facial profile of a fetus with achondroplasia at 28 weeks gestatio...Figure 20.6 This fetus with thanatophoric dysplasia type I was noted to have s...Figure 20.7 (a) Normal fetus at 18 weeks of age in profile. There is a smooth ...Figure 20.8 Fetus with hypochondroplasia and normal facial profile.Figure 20.9 A normal looking but short femur in a fetus with hypochondroplasia...Figure 20.10 X‐ray of a fetus with osteogenesis imperfecta (OI) type III shows...Figure 20.11 Ultrasound image showing the head of a fetus with osteogenesis im...Figure 20.12 Lateral view of the leg of a fetus with osteogenesis imperfecta t...Figure 20.13 Beaded ribs in a fetus with osteogenesis imperfecta type III at 3...Figure 20.14 This fetus had molecularly confirmed hypochondrogenesis (COL2A1 m...Figure 20.15 Ultrasound image of fetus from Figure 20.14. Facial profile shows...Figure 20.16 Ultrasound image showing the second fetus of a nonconsanguineous ...

      15 Chapter 22Figure 22.1 Amino acid metabolism and fates.

      16 Chapter 23Figure 23.1 Phenotypic spectrum in mucopolysaccharidosis I (MPS I). (a) Severe...

      17 Chapter 24Figure 24.1 Schematic diagram showing the four identical chemical reactions of...Figure 24.2 Enzymatic organization of the (a) mitochondrial and (b) peroxisoma...Figure 24.3 Schematic diagram showing the enzymatic steps involved in the mito...

      18 Chapter 25Figure 25.1 Lysosomal catabolism of some glycosphingolipids. Source: Milunsky ...

      19 Chapter 27Figure 27.1 Prenatal diagnosis of α⁰‐thalassemia using gap‐PCR to detect the −...Figure 27.2 Restriction enzyme polymerase chain reaction (RE‐PCR) analysis usi...Figure 27.3 The screening of a DNA sample for seven common Mediterranean mutat...Figure 27.4 Prenatal diagnosis of β‐thalassemia by the allele‐specific priming...Figure 27.5 The diagnosis of the sickle cell anemia genotypes by DdeI digestio...

      20 Chapter 29Figure 29.1 Stages of twin‐to‐twin transfusion syndrome (TTTS).Figure 29.2 (a) Donor twin with small bladder