Among serious fetal anomalies currently detectable with ultrasound, defects of the central nervous system (CNS) are among the most common. These congenital anomalies are especially likely to burden not only affected children with severely limiting handicaps, but also their families with long-lasting anguish and financial responsibility. It is appropriate that interest in methods for improving prenatal detection of these abnormalities has intensified. Alphafetoprotein screening programmes are now widely available, and many papers have been written describing useful sonographic observations that enhance prenatal diagnosis. As a consequence, the majority of the most common serious neural axis defects including fetal hydrocephalus, anencephaly, myelomeningocele and encephalocele, previously detected almost exclusively at birth, today can be accurately detected prenatally. A few observations in the fetal brain and spine have proven to be especially useful in this task. This article presents a simplified and effective approach to the general sonographic survey of the neural axis in fetuses at average and increased risk for these anomalies. The aim is to improve not only accuracy of diagnosis of CNS malformations, but the efficiency and confidence of the examiner.

Despite the fact that most perinatal and maternal complications are on the decline in diabetic pregnancies, the rate of congenital malformations has not changed over the past twenty years.1 In fact, congenital malformations have replaced asphyxia and respiratory distress syndrome as the leading cause of mortality in offspring born to mothers with insulin-dependent diabetes mellitus.2 The frequency of major congenital malformations has been estimated at 6 to 10% representing a three to five fold increase over the rate in the general population.3,4 Congenital malformations in the offspring of women with diabetes represent a significant social and financial burden to society.

In the US alone, more than 20 million people suffer from kidney disease. Despite the significant burden of renal disease for the individual and society, treatment options are limited. Over the years, the identification of genes and molecular pathways required for normal renal development has provided insight into our understanding of obvious developmental diseases such as renal agenesis and renal dysplasia. However, many of the genes identified have also been shown to play roles in adult-onset and acquired renal diseases such as focal segmental glomerulosclerosis (scarring of the renal filters). In fact, data suggest that the number of glomeruli and nephrons (filtering units) present in the kidney at birth, which is determined during fetal life, predicts the risk of kidney disease and hypertension later in life; a reduced number is associated with greater risk. To discover novel therapeutic targets and strategies to slow and reverse kidney disease, we must continue to dissect the molecular mechanisms that underlie kidney development.

Acute appendicitis is the most common non-obstetric indication for surgical intervention in pregnancy, complicating 1/500 to 1/2000 deliveries. Due to the anatomical and physiological changes associated with pregnancy, appendicitis may present a diagnostic dilemma, leading to management delays and thus increasing the risk of appendiceal perforation. Many of the common presenting symptoms of appendicitis are common features of normal pregnancy including lower abdominal pain, nausea, vomiting and leukocytosis. Furthermore, the enlarging gravid uterus may displace the appendix to varying degrees thus altering the classic symptom pattern of appendicitis. The often nonspecific presentation in pregnancy may necessitate the utilization of diagnostic imaging to aid in accurate diagnosis. However, the perforated appendix is the most common surgical cause of fetal loss and the time required for any diagnostic aid must be weighed against the increasing risk of perforation caused by delay in surgical intervention.

Proteomics is a new field of research. It has developed rapidly in the last five years and is turning more and more into a mature science with relevance to the clinic. The recent elucidation of the human genome sequence has provided a wealth of useful information but does not provide information on diseases caused by changes at the protein level. Proteomics includes the characterisation and functional analysis of all proteins that are expressed by the genome at a certain moment, under certain conditions. Since expression levels of many proteins strongly depend on complex, but well-balanced regulatory systems, the proteome, unlike the genome, is highly dynamic. This variation depends on the biological function of a cell, but also on signals from its environment. In (bio)medical research it has become increasingly apparent that cellular processes, in particular in disease, are determined by multiple proteins. Hence it is important not to focus on one single gene product (one protein), but to study the complete set of gene products (the proteome). In this way the multi-factorial relations underlying certain diseases may be unravelled potentially identifying therapeutical targets. For many diseases characterisation of the functional proteome is crucial for elucidating alterations in protein expression and modifications. When proteins undergo non-genetically determined alterations such as alternative splicing, or post-translational modifications, e.g. phosphorylation or glycosylation, it may effect their function. Although abnormalities in splicing or post-translational modifications can cause a disease process, they can also be a consequence. An example is that patients with diabetes have a high blood glucose which glycosylates hundreds or even thousands of proteins, including HbA1c which is used to monitor diabetic control.

As a result of advances in perinatal and neonatal care, birth defects now represent an increasing component of the perinatal mortality rate. Approximately 5% of all pregnancies monitored result in an abnormal fetus and close to one-third of these are chromosomal abnormalities. The upsurge of interest in prenatal diagnosis has reflected this increased importance of genetic disorders in obstetrics.

Preeclampsia was originally known as a process whereby an unknown “toxin” was responsible for a variety of responses. While this toxin has yet to be determined, many theories have prevailed as to the appropriate therapy for this condition.

Recently, antihypertensive therapy has become increasingly regarded as an important component of the medical management of women with preeclampsia. Initially, the ideal therapy for peripartum acute hypertensive emergencies was felt to be a smooth muscle relaxant and the most commonly prescribed agent was hydralazine. This drug was felt to be beneficial because of its action on vascular smooth muscle, decreasing vasospasm. Outside of the United States diazoxide was also used for this purpose, although this drug has been replaced because of the high incidence of fetal distress. Another agent that was frequently used was α-methyldopa which was initially considered to be the treatment of choice in the treatment of patieats with moderate and severe preeclampsia. Recently, α-methyldopa has been reserved for the outpatient management of gestational hypertension, especially in women with mild preeclampsia or chronic hypertension.

The incidence of twin pregnancy has risen substantially over the past decade, likely largely as a consequence of artificial reproductive technologies. The perennial dilemmas that apply to any singleton delivery, such as intrapartum monitoring and operative interventions are compounded by the presence of the second fetus. There is no doubt that the conduct of a twin delivery remains one of the most challenging events in the daily practice of obstetrics.

Products of arachidonic acid metabolism (eicosanoids, e.g. some prostaglandins and leukotrienes) have important roles in the maintenance of pregnancy, and certain diseases of pregnancy such as pregnancy-induced hypertension and the machanism(s) of parturition both at term and before term. The volume of literature describing these last relationships dictates that the present review has to be focused rather than global in nature. Only studies of preterm labour in women and the use of human tissues will be discussed in detail despite the limitations in experimental designs that are imposed on such studies. Emphasis will be placed on studies of cyclo-oxygenase and to a lesser extant lipoxygenase pathways of arachidonic acid metabolism mentioning only briefly the pathways for catabolism of these eicosanoids. It should be noted also that eicosanoids from the epoxygenase pathways and those not derived from arachidonic acid will not be discussed here. The review of literature will not be comprehensive but rather selective in order to focus on specific issues of importance or controversy. In developing concepts of regulation I have emphasized studies with amnion since this tissue has received most attention experimentally. The significance of the eicosanoids in the mechanisms of labour at term and before will be described primarily in a section in which I have attempted to deleneate those regulatory mechanisms that are considered most significant in, or specific to, pregnancy and parturition. Studies of labour at term will be freely interspersed with studies specific to preterm labour since the latter are limited, and we need a ‘strandard’ for comparison; moreover, results from one series of studies helps the development of concepts for the other. Finally, the reader is directed to several excellent reviews that concentrate on areas not emphasized in this review.1–7

Cytomegalovirus (CMV) is the most frequent cause of congenital viral infection,1 with a prevalence of 0.5 to 1% of all live births, and the leading infectious cause of sensorineural deafness and mental retardation.1 As other Herpesviridae, CMV fetal infection can develop following both primary and recurrent maternal infection. Vertical transmission rate is around 30% following primary infection and 2 to 3% following recurrent infection.2 Effects on the unborn as well as on the newborn are widely variable. It is estimated that only 5 to 10% of infected newborns have symptoms at birth, whereas around 90% of congenitally infected infants are asymptomatic although 5–15% of these infants will develop some degree of sensorineural hearing loss.3

Obstetric haemorrhage has been recognised as a major cause of maternal death as long as physicians have studied and written about childbirth. Until the 20th century, however, little was possible in the way of effective treatment. Postpartum haemorrhage (PPH) is still a frequent cause of death in many parts of the world. Even in developing countries, it remains the 3rd biggest killer of women in childbirth, despite considerable advances in medical care in the last half-century. The modern management of PPH may include a team of anaesthetists, haematologists, vascular surgeons, gynaecologists and radiologists.1 Clearly, this change represents an advance which has saved and will continue to save countless lives, not only in the developed world where such teamwork is routine, but also in developing nations that are desperately looking for ways to reduce maternal mortality as part of their efforts to comply with the United Nations Millennium Development Goals by the year 2015.2

Inherited bleeding disorders pose a particular challenge for pregnancy and the puerperium, due to both the inheritance risk to the fetus and the bleeding risk to the mother. Women at risk require counselling to address the following questions

1. 1 Will I bleed?

2. 2 What treatment do I need?

3. 3 Can I pass it on to my children?

Fetal renal pelvic dilatation (pyelectasis) is readily identified at the routine second trimester anomaly scan. It is now well recognised that mild pyelectasis is associated with fetal chromosomal abnormalities and may predict neonatal renal anomalies. The reported prevalence of pyelectasis and the strength of the association with both aneuploidy and paediatric outcome varies considerably in the literature, making accurate prenatal counselling very difficult.

Mid trimester miscarriage and premature birth remain a significant cause of perinatal morbidity and mortality presenting an important challenge in perinatal medicine. The place of cervical cerclage requires to be reconsidered and redefined. Insertion of a cervical suture may be useful when there is cervical weakness in a woman at risk of miscarriage or premature birth. Miscarriage is a preferable word to abortion and weakness is a preferable word to incompetence because of the sensitivities of the woman in this situation.

Ultrasound has been used in cardiac diagnosis since the 1960s. The original modality used was M-mode, which recorded the movement of heart structures relative to a single line of sound passed through the heart and was displayed as a paper tracing. During the 1970s, a two-dimensional image became possible, but it was a static image, which had limited value for cardiac evaluation. However, by the end of the 1970s, advances in ultrasound equipment allowed the heart to be displayed in real-time. This technology was applied initially in the adult and subsequently in the child. Echocardiography proved particularly suitable for children, partly because it is non-invasive and repeatable, but also because most heart disease in children is due to malformation of anatomical structure, which ultrasound can ideally display. At the same time, obstetric ultrasound was progressing rapidly and descriptions of the appearances of malformations in most fetal systems began to be published by the end of the 1970s. It was not until real-time equipment became generally available in obstetrics that the fetal heart could be satisfactorily evaluated. This led to descriptions by several authors of normal fetal cardiac anatomy as seen echocardiographically in 1980. The appearances of the echocardiogram in different forms of congenital heart disease (CHD) in children were published in the late 1970's, setting the stage for diagnosis in fetal life. As a result, by the mid-1980's, most major forms of CHD had been detected prenatally.

The discipline of radiology owes its existence today to the discovery of bands of radiation in the electromagnetic spectrum which can penetrate human tissue, and thus can be exploited as windows for imaging. Magnetic resonance (MR) employs radio-frequency radiation and almost certainly represents the final such window in the electromagnetic spectrum for imaging. It is similar to Computerised Tomography (CT) in providing a cross-sectional display of body anatomy with excellent resolution of soft tissue detail. The images are essentially a map of the distribution density of hydrogen nuclei and parameters reflecting their motion in cellular water and lipids. The total avoidance of ionizing radiation, its lack of known hazard and the penetration of bone and air without attenuation, make it a particularly attractive non-invasive imaging technique.

Despite advances in obstetric and neonatal care, hypoxia-ischaemia remains as probably the commonest cause of severe disabling brain injury which occurs in the perinatal period. Although for the population as a whole, congenital brain abnormality and early fetal events are the most frequent antecedent of permanent neurodevelopmental disability, perinatal brain injury is an important and potentially preventable cause of severe and permanent handicap in both developed and developing countries.

Cardiovascular disease is the leading cause of death in women. The hypertensive disorders of pregnancy (HDP) are the most common medical complication of pregnancy, complicating up to 10% of pregnancies worldwide. They represent a leading cause of maternal mortality and morbidity in pregnancy. The most common of these disorders is gestational hypertension (5–6%). Using population-based data, approximately 1% of pregnancies are complicated by pre-existing hypertension, 5–6% by gestational hypertension without proteinuria, and 1–2% by pre-eclampsia.

The combined spinal epidural (CSE) as an anaesthetic technique for providing analgesia for labour and anaesthesia for operative delivery has gained in popularity over the last ten years. Essentially the CSE consists of identification of the epidural space and insertion of an epidural catheter plus the initial intentional placement of an intrathecal dose of opioid, local anaesthetic or both, all as a single procedure. Theoretically the technique combines the advantages of the speed of onset and the reliability of block achieved by subarachnoid anaesthesia with the flexibility provided by the presence of an epidural catheter and avoids their individual disadvantages. The complications that may be encountered are those attributable to subarachnoid and epidural anaesthesia individually but some are unique to the CSE technique. The CSE technique is also applicable to other situations in obstetrics where a block is initiated by subarachnoid anaesthesia and its continuation is facilitated by the presence of an epidural catheter, either to maintain anaesthesia for prolonged procedures or for post operative pain control. The CSE's popularity has been ensured by the fact that it has allowed rapid onset analgesia with minimal motor blockade to be provided routinely for mothers in labour.

Obstetric cholestasis (OC) also known a intrahepatic cholestatsis of pregnancy (ICP) is defined as pruritus of onset in pregnancy in association with abnormal liver function in the absence of any other identifiable liver pathology which resolves on delivery. It may be associated with adverse obstetric outcome and significant maternal morbidity. In the UK the prevalence is thought to be 0.6–0.7%, with up to 39–41% of women with OC being of Indian or Pakistani origin. Higher prevalence is also observed in Scandinavia (2%) and Chile (4%), (especially women of Araucanian Indian descent 24%). The condition occurs more commonly amongst twin pregnancies (20–22%) and is more common in the winter months in both Scandinavian and Chilean populations. The condition may occur more frequently in those >35 years of age (25% of cases).