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Fetal Pathology

Introduction Perinatal/paediatric pathology is a medical subspecialty with particular expertise in diseases affecting the placenta, fetus, infant and child. In the United Kingdom, paediatric pathology has evolved rapidly over recent decades from a small area of practice for general histopathologists, to becoming a recognized subspecialty by the Royal College of Pathologists. The workload of a practising paediatric pathologist can be broadly separated into two fields: 1.…

Fetal Magnetic Resonance Imaging

Introduction Over the last ten years, the interest of radiologists and obstetricians in imaging the unborn child by means of magnetic resonance imaging (MRI) has grown significantly, not least facilitated by accelerated technical developments, especially in terms of fast imaging sequences. Thanks to scientific progress, fetal MRI features nowadays more and more in the multidisciplinary approach to fetal medicine. In routine clinical practice, ultrasound remains the…

Fetal Tumours

Introduction to Fetal Tumours Fetal tumours are fortunately rare. They can be associated with serious illness or even death in the fetal or neonatal period and the prenatal diagnosis of fetal tumours may have significant implications on the well-being of both mother and fetus, as well as on perinatal and neonatal outcome. The reported prevalence for congenital tumours is 1.7–13.5 per 100,000 live births. Definition Differentiation…

Haematological Disorders

Red Cell Disorders Causes of Fetal Anaemia Rhesus D Alloimmunization Rhesus D (RhD) alloimmunization is the major cause of haemolytic disease of the fetus and newborn (HDFN). Over the past 40 years, the incidence of HDFN has fallen dramatically due to greater understanding of the pathophysiology of the disease and advances in management including the widespread use of prophylactic anti-D immunoglobulin. The reduction in stillbirths and…

Urinary Tract Abnormalities

Introduction Abnormalities of the urinary tract are relatively common, accounting for approximately 20% of all fetal malformations. The exact incidence of prenatally detected urinary tract anomalies is difficult to determine and varies from centre to centre and with the timing of the ultrasound examination. Although advances in ultrasound machine technology have meant that the diagnosis of renal disease is more accurate, there remains a significant false-positive…

Abdominal and Abdominal Wall Abnormalities

Introduction Congenital anomalies of the gastrointestinal tract, (including those of the anterior abdominal wall) account for approximately 15% of congenital abnormalities detected by routine prenatal ultrasound. The prenatal detection rates from routine ‘screening ultrasound’ either in the first trimester (usually between 11 to 13 +6 weeks) or in the second trimester (18 to 22 weeks), are dependent upon the type of congenital anomaly as well as…

Skeletal Abnormalities

Introduction Abnormalities of the fetal limbs rank as the third most common after those of the cardiac and renal systems according to EUROCAT data (1980–2010). The most common limb abnormalities amenable to prenatal diagnosis are: club foot/talipes (9.5 in 10,000 births); polydactyly (8.9 in 10,000 births); syndactyly (6.24 in 10,000 births); limb reduction defects (6 in 10,000 births); Combine these prevalence figures with: skeletal dysplasias (1.69…

Pulmonary Abnormalities

Ultrasound of the Normal and Abnormal Fetal Lungs The fetal lungs are well-visualized either in the axial planes at the level of the four-chamber view ( Figure 15-1A ), the three-vessel view ( Figure 15-1B ), the upper abdomen transition to the chest ( Figure 15-2A ) or in a parasagittal plane ( Figure 15-2B ). In a right parasagittal view the lung length can be…

Cardiac Abnormalities and Arrhythmias

Introduction Cardiac abnormalities are among the most common birth defects and are the leading cause of death in children from congenital defects. They occur in about 8–11 cases per 1000 livebirths but only 3 per 1000 are major cardiac abnormalities requiring early intervention. Despite well-recognized risk factors ( Table 14-1 ), most cardiac abnormalities occur in low-risk pregnancies. Hence, the best practice is to screen the…

Abnormalities of the Face and Neck

Introduction The face is the focus of social interaction, and therefore facial abnormalities have a significant impact both in psychological and emotional terms. Facial abnormalities are often associated with other anomalies and may be a clue to the detection of chromosomal disease or a more complex syndrome. This has practical implications in terms of need for invasive tests to identify karyotype and genetic counselling. The detection…

Diagnosis of Spina Bifida and Other Dysraphisms in the Fetus

Introduction Anomalies of the fetal spine, particularly spina bifida, are amongst the commonest fetal malformations detectable. Anencephaly and spina bifida are the commonest neural tube defects (NTDs), accounting for up to 95% of all NTDs, and they occur with a nearly equal frequency of 1 in 1000 births though there is some variation depending on geographic location and sex of the fetus. Historically the UK and…

Cranial Abnormalities

Embryology Introduction The rate of change in the appearances of the developing fetal brain is quite remarkable and ultrasound has undoubtledly opened a new window into developing embryology. However it is important to realize that normality of the brain can only be determined if the gestational age is accurately known, and with knowledge and appreciation of the evolution and development of the human brain. It is…

Fetal Growth

Introduction Fetal size and weight at birth are functions of genetic potential and substrate supply. Genetic factors are largely responsible for growth control in the first half of pregnancy, whereas environmental factors are more important in the second half of pregnancy. Normal fetal growth relies on three things; normal implantation, trophoblastic invasion of maternal spiral arterioles and development of chorionic villi. Fetal growth is important because…

Assessment of Twin Gestation

Introduction About 1 in 89 spontaneous conceptions results in the birth of twins. However, with the widespread use of artificial reproductive technologies, the incidence of twinning has increased dramatically worldwide, so that in some countries twins now occur once in every 30 pregnancies. Of spontaneously conceived twins, 55% are dizygotic, whereas 45% are monozygotic. Monozygotic cleavage therefore occurs in about 1 of 200 spontaneous conceptions. Dizygotic…

Diagnosis of Hydrops and Multiple Malformation Syndromes

Introduction Multiple malformation syndromes may be identifiable by ultrasound following the identification of one abnormality and associated investigations. There are thousands of malformation syndromes, many too rare for the scope of this book and many not amenable to ultrasound identification. However, identification of any malformation should immediately alert the sonographer to look for further abnormalities. This chapter will be a guide for possible syndrome diagnosis following…

Fetal Anomalies – The Geneticist’s Approach

Introduction The geneticist's approach to the unexpected finding of fetal structural malformations is to determine whether they constitute a recognizable abnormal pattern of morphogenesis. The pattern and nature of the anomalies can often suggest the timing and cause of an embryological insult and, together with information gleaned from family and parental medical histories, may be helpful in determining whether the insult was environmental or genetic. The…

Prenatal Diagnosis of Fetal Infections

Introduction Viral infections are a concern to practitioners in prenatal diagnosis, particularly in the interpretation of an abnormal fetal ultrasound examination. It must be emphasized that the risks of transplacental transmission and fetal damage are pathogen- and gestation-specific. An optimal approach requires understanding of: the expected teratogenicity of infection; its potential appearance on ultrasound; the dynamics of the progress of maternal–fetal infection; the anticipated progression of…

Disorders of the Placenta: Localization and Placental Attachment Disorders

Background Placenta praevia and placenta accreta are a source of maternal and fetal morbidity and mortality. They are associated with increasing healthcare costs. Their incidence is rising as the number of Caesarean sections and maternal age increase. The importance of these conditions is reflected by the provision of management guidelines by the Royal College of Obstetricians and Gynaecologists. Development and Structure The human placenta has a…

Amniotic Fluid

Introduction Amniotic fluid (AF) is an essential complex and dynamic environment that changes in nature and amount as pregnancy progresses. Amniotic fluid surrounds the fetus during intrauterine development and normal levels are essential to fetal well-being. The presence of normal amniotic fluid throughout gestation not only allows for normal development of the fetal respiratory and musculoskeletal systems, development and maturation of the gastrointestinal and urinary tracts…

Routine Fetal Anomaly Scan

Introduction Since the introduction of ultrasound scanning into obstetric practice in UK in the 1980s, there has been a considerable change to the role of this test in antenatal care, which has been driven largely by developments in technology. In most units, it is now part of routine screening in pregnancy and its main purpose is considered to be the detection of fetal structural anomalies. However,…