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Neonatal Management and Outcome in Extreme Prematurity

Key Points Improvement in neonatal management over the past decades has led to an increase in survival rates among extreme preterm neonates and a simultaneous decrease in the limits of viability. Despite improvement in perinatal survival, the rates of short- and long-term morbidity (including neurodevelopmental outcome) remain substantial. Optimising transition in the first minutes after birth by improving lung aeration and applying strategies to delay cord…

Pharmacokinetics and Pharmacodynamics

Key Points Physiological changes associated with pregnancy have a profound effect on how medications are handled in pregnant women. Most medications taken by pregnant women reach the fetus to varying degrees. The fetus is in part protected by placental efflux transporters and placental drug-metabolising enzymes. The fetus can also metabolise some drugs but to a minor degree. Drugs reaching the fetus can be teratogenic or toxic,…

The Developmental Origins of Health and Disease

Key Points Influences during early life have substantial impact upon adult health and disease. This concept is most commonly known as the developmental origins of health and disease. Environmental, genetic and epigenetic factors, as well as interactions among these factors, underlie this association. Modification of these factors in early development has the potential to influence an individual’s health across the life course. Introduction An association between…

Fetal Gene Therapy

Key Points Gene therapy for fetuses may provide a therapeutic advantage over postnatal treatment for certain congenital diseases. Three types of fetal gene therapy are available: direct ‘somatic’ fetal gene therapy, in utero transplantation of gene corrected fetal stem cells and maternal gene therapy In preclinical animal models of congenital disease, direct fetal gene therapy can bring a phenotypic cure. Minimally invasive ultrasound-guided injection techniques can…

In Utero Stem Cell Transplantation

Key Points In utero transplantation (IUT) has the potential to cure or ameliorate many disorders before birth. Animal models for studying IUT have fundamental differences from human models in regard to immunologic ontogeny and placentation. Naturally occurring events during pregnancy result in chimerism in large animals and in humans and support the concept of IUT. Using mesenchymal stem cells for IUT may be possible in disorders…

Multiple Pregnancy

Key Points Multiple pregnancies are at high risk for adverse perinatal outcome. The standard of care is early confirmation of chorionicity and timely referral when complications arise. Current available data report similar pregnancy-loss rates in twins for both chorionic villous sampling and amniocentesis with an excess risk for about 1% above the background risk. Selective intrauterine growth restriction or discordant growth complicates approximately 20% of twins.…

Disorders of Amniotic Fluid

Key Points Amniotic fluid (AF) volume is usually well regulated in pregnancy. Subjective or semiquantitative ultrasound measurement systems are used to identify and categorise disorders of AF volume. Low (oligohydramnios) or high (polyhydramnios) AF volumes are associated with increased maternal and perinatal complications. Obstetric management is based on the underlying cause of the abnormal AF volume. Introduction The fetus exists in a fluid-filled environment which assists…

Fetal Infections

Key Points Cytomegalovirus (CMV) can cause both primary and nonprimary infections. Around 50% of the pregnant women are seronegative; 1% will develop primary infection during pregnancy. Prenatal diagnosis relies on CMV polymerase chain reaction (PCR) in amniotic fluid (AF) sampled at least 6 weeks after maternal seroconversion and after 21 weeks. Cerebral fetal lesions determine the prognosis. A total of 10% of infected infants are symptomatic…

Fetal Platelet Disorders

Key Points Fetal platelet disorder is a potentially life-threatening condition. Fetal thrombocytopenia may lead to fetal bleeding. complications, such as an intracranial haemorrhage. Idiopathic thrombocytopenic purpura. Has an incidence of 1 to 2 in 1000 pregnancies. Causes severe fetal thrombocytopenia in 5% to 20% of the cases. Rarely leads to bleeding problems in fetuses or neonates. Is treated primarily with corticosteroids. Fetal and neonatal alloimmune thrombocytopenia.…

Haemolytic Disease of the Fetus and Newborn

Key Points Fetal hydrops is defined as the accumulation of fluid in two fetal compartments (abdominal ascites, pleural effusion, pericardial effusion, skin or scalp oedema). It may also be associated with polyhydramnios and placental oedema. Immune hydrops is the result of alloimmunisation to red blood cell antigens. Rhesus (Rh) immunoglobulin has decreased the relative frequency of RhD disease. Kell alloimmunisation is associated with the least predictable…

Fetal Growth and Growth Restriction

Key Points Fetal growth restriction (FGR) is practically defined as a sonographic estimated fetal weight of less than the 10th percentile for gestational age. In actuality, a growth-restricted fetus is one that is unable to meet its inherent growth potential secondary to an underlying pathologic process. Distinguishing between a pathologically growth-restricted fetus and a constitutionally small one is imprecise, and using an estimated fetal weight cutoff…

Open Fetal Surgery

Key Points Most fetuses with a prenatal diagnosis of a congenital abnormality can be managed expectantly. For some conditions, in utero referral is mandatory for planned delivery and management after birth. Fetal surgery is only required for conditions that cannot await therapy after birth and when there is enough evidence that prenatal surgery partly reverses the natural course. Open fetal surgery (OFS) is one modality to…

Fetal Tumours

Key Points Fetal tumours are rare and should be managed by an experienced multidisciplinary team. Magnetic resonance imaging is an important imaging modality in the diagnosis and management of fetal tumours. Fetal neck masses may result in airway obstruction and the ex utero intrapartum treatment (EXIT) procedure may need to be planned for delivery. In utero treatment of sacrococcygeal teratomas can be performed in fetuses showing…

Fetal Hydrops

Key Points Hydrops fetalis is a pathological condition of excessive fluid accumulation in at least two extravascular compartments, including fetal soft tissues and body cavities. Hydrops fetalis is a clinical finding and not a final diagnosis. There are two main pathophysiologies for hydrops fetalis, immune and nonimmune. For nonimmune, the diagnostic categories are placental, cardiovascular, chromosomal, haematologic, lymphatic dysphasia, infection, thoracic malformations, genetic syndromes, inborn errors…

Diagnosis and Management of Abnormalities of the Face

Key Points The fetal face can be visualised by ultrasound from 9 weeks’ gestation onwards. After 9 weeks’ gestation, only proportional changes occur in the fetal face. Clefts and micrognathia are the most common facial anomalies. In many genetic disorders, the face has a deviant appearance. At the routine anomaly scan the profile, the lip and the eyes should be examined. A detailed ultrasound investigation in…

Diagnosis and Management of Fetal Skeletal Abnormalities

Key Points Diagnosis of skeletal anomalies is challenging and requires time and a team approach, including clinical geneticists, paediatricians and pathologists. This chapter deals with the prenatal diagnosis of skeletal anomalies. It gives aids to diagnosis and categorises conditions by sonographic findings to help sonographers narrow the differential diagnoses. Increasingly, with advances in genomic medicine, the definitive diagnosis can be achieved prenatally after targeted molecular genetic…

Kidney and Urinary Tract Disorders

Key Points When a fetal urinary tract anomaly is identified, careful ultrasound examination is required to exclude coexistent anomalies. In the presence of a coexistent anomaly, the risk for aneuploidy and single-gene disorders as an underlying aetiology should be considered and investigated. Sonographic features associated with long-term poor renal function include hyperechogenic kidneys, renal cyst formation, oligohydramnios and the inability of the bladder to refill after…

Abdomen

Key Points The embryologic processes involved in development of the abdominal wall and viscera are complex and most anomalies can be defined through their developmental origin. The abdominal viscera are our metabolic powerhouse but have little functional significance in a fetus. Some signs of abnormality develop late in pregnancy after the abdominal viscera become functional. Most major abdominal defects can be detected sonographically from early gestations…

Congenital Diaphragmatic Hernia

Key Points Congenital diaphragmatic hernia occurs in 1 to 4 in 10,000 births. The condition is isolated in more than 50% of the cases. The main causes of mortality and morbidity are respiratory insufficiency and persistent pulmonary hypertension of the newborn. Prenatal diagnosis should be made by screening ultrasound, after which patients are referred to specialised centres. In isolated cases, the size of the lungs and…

Fetal Lung Lesions

Key Points A limited number of congenital malformations of the respiratory tract can be identified directly by prenatal sonography. These malformations should be described systematically because definitive diagnosis requires histologic examination. The identification of subtle lesions that have no detrimental effect on a fetus or postnatal respiratory function is increasingly common. A lack of evidence surrounding the natural history of asymptomatic cystic lung lesions has resulted…