Congenital heart disease is one of the most common major malformations in humans, contributing substantially to the financial and psychological burden of child healthcare. About one percent of children are born with heart defects, and every year, more children die from congenital heart disease than are diagnosed with cancer. A diagnosis of congenital heart disease is frightening for parents, particularly when it affects a fragile newborn. The heart is the first organ to be matured in a human fetus and if a particular congenital heart defect is compatible with fetal life, the child will be born with a defective heart. More than 300 genetic syndromes are associated with congenital cardiac defects. In this review, we will discuss the genetics of congenital heart disease, how to carry out a diagnosis of the genetic causes and how to provide counseling for families with congenital heart disease.

Cerebral palsy is the most common neurological disorder in children. Epidemiological evidence suggests that antenatal origins are a major cause. Currently there is no antenatal test for cerebral palsy, no proven preventable measures in late pregnancy, and no known cure. Cerebral palsy affects not only the diagnosed child, but also their family and the community, requiring considerable social and financial resources to assist these children in their daily lives.

Imaging technologies have been remarkably improved and contribute to prenatal evaluation of fetal central nervous system (CNS) development and assessment of CNS abnormalities in utero.

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 sequelae of shoulder dystocia with persistent brachial plexus injury (BPI) are among the most serious of obstetrical complications. Shoulder dystocia with BPI generally places second or third in the list of the top causes of permanent birth-related neonatal injuries. Apart from the devastating medical and social consequences of lifelong impairment for the family, ensuing litigation with its allegations regarding poor care exacts a heavy toll on the medical profession.

Respiratory Distress Syndrome (RDS) is due to immaturity of the lungs, primarily the surfactant synthesising system; hence, the risk of RDS is inversely proportional to gestational age. The incidence of RDS has been reduced by the routine use of both antenatal corticosteroids and postnatal surfactant, but still approximately one per cent of babies develop RDS. Hyaline membranes, formed from plasma proteins which have leaked onto the lung surface through damaged capillaries and endothelial cells, line the terminal airways. Hence, RDS has also been called hyaline membrane disease, but RDS is the preferred name as the presence of hyaline membranes can only be confirmed histologically. The aim of this review is to emphasize the pathophysiology of RDS and the clinical presentation and relevance of diagnostic techniques in the current population of very prematurely born infants, highlighting the differential diagnosis. In addition, the evidence base for prophylactic and management strategies including whether new therapies and techniques of respiratory support have positively impacted on outcomes are discussed. The mortality and long term morbidity associated with very premature birth are described. Our increasing understanding that the so-called new bronchopulmonary dysplasia (BPD) and associated chronic adverse respiratory outcomes in such infants can reflect antenatal events resulting in abnormal lung growth is highlighted.

Microscopic forms of karyotyping and cytogenetic analysis by means of G-banded chromosome analysis and rapid FISH (fluorescence in situ hybridization) on amniotic fluids or chorionic villus samples are at present regarded as the gold standard for prenatal diagnosis of chromosomal anomalies. Nevertheless, up to now the resolution of conventional chromosomal analysis was limited to approximately 4–5 Mb and not smaller than 2 Mb for FISH. Thus numerous common microdeletion syndromes are not detectable by conventional karyotyping. In addition, prenatal cells yield lower band resolution by conventional karyotyping than peripheral white blood cells making detection of subtle abnormalities even more difficult. With the advances in molecular-based techniques, a collaborative effort has led to the standardized method for detection of a restricted set of common chromosomal aneuploidies and microdeletion syndromes such as Down's syndrome, DiGeorge or Angelman syndrome either by rapid FISH and/or quantitative fluorescent PCR (QF-PCR). Even if the presence of particular phenotypic features of microdeletion or duplication syndromes may direct the use of syndrome-specific FISH tests in the postnatal period, syndrome-specific FISH analysis still has a very limited potential and application in the prenatal period due to the limitation in prenatal morphological or imaging diagnosis of many of the syndromes.

The techniques currently used by most specialist centres for magnetic resonance (MR) imaging of the fetus were developed in the 1990s, when fast imaging sequences capable of good soft tissue contrast were introduced. Earlier pioneering work on fetal MR imaging in the early 1980s revealed some promise for this application, but at the time it was not generally considered of diagnostic quality or clinical practicality because of the long acquisition times and inevitable image degradation resulting from fetal movement, problems which were overcome only by means of maternal sedation or neuromuscular blockade of the fetus. As with the early development of MR imaging in general, it is the ability to image central nervous system (CNS) tissues with a clarity and contrast far exceeding X-ray computed tomography and ultrasound that has shown the most benefit to date. Subsequent development of techniques for specific problem solving in other areas of the body will undoubtedly follow.

Despite a plethora of publications existing in the literature, there is still confusion about the definition and management of intrauterine growth-restricted fetuses. Fetal growth restriction (FGR) is defined by the American College of Obstetricians and Gynecologists as estimated fetal weight (EFW) less than that expected for gestational age. Clinically this is applied when the EFW is less than the 10th percentile because perinatal morbidity and mortality is increased in low-birth weight infants. Other investigators have proposed and used a variety of fetal definitions: a fetus with an estimated weight < 2SD (standard deviation) from the mean, the 3rd 5th or 15th percentile and an abdominal circumference 2 SD below the mean. Because of the different definitions, it is understandable why different information has been obtained in growth restricted fetuses and why different management schemes have been proposed. A second source of confusion in FGR lies in the fundamental misunderstanding that all growth restricted fetuses are the same, and all will progress to cardiovascular failure following a similar time frame. We believe that in FGR, 2 concepts are important: the first is to detect those growth restricted fetuses at risk for adverse perinatal outcome; the second is to optimize the timing of delivery for these fetuses.

The concept of fetal pain is becoming more and more relevant since the possibilities for invasive intrauterine treatment are increasing. However, there is much debate as to whether the fetus is mature enough to be able to perceive pain. But what is ‘pain’? One cannot determine whether a fetus feels pain unless one has a conception of what pain is. There is a difference in opinion about what pain really is and that is also the difficulty in studies on fetal pain: we cannot simply ask the fetus whether or not it feels pain. We can only give indirect evidence of possible harmful effects of stressful stimuli on the developing fetus. In this review we will first explore the meaning of ‘pain’. We will then discuss fetal anatomic, neurophysiologic and behavioural development and the responses which are thought to be required to experience pain. Finally, we discuss some ethical considerations and suggestions on fetal anaesthesia.

Skeletal anomalies occur with a frequency of around 1:500 and can present a diagnostic challenge when detected prenatally. Increasingly more sophisticated imaging such as MRI or CT may elucidate features more easily interpreted by postnatal radiologists. The aetiology of these anomalies is varied and includes aneuploidy, genetic syndromes, skeletal dysplasias, teratogens, disruption and maternal disease, making a multidisciplinary approach to the diagnosis essential. The estimated prevalence of skeletal dysplasias varies from 2–3/10,000 to 4–7/10,000 and diagnosis may require biochemical, cytogenetic, molecular genetic or haematological investigation. Clinical genetic input is often required as the family history or parental examination may yield valuable clues to the diagnosis. This review will briefly describe the normal embryology and sonographic appearances of fetal limb development and go on to suggest a systematic approach to the diagnosis of fetal skeletal dysplasias.

Investigation of fetal cardiac function remains a challenging task. Although the response of the heart to changes in load is well-known in animal models and the adult human, the developmental changes in fetal cardiac response remain poorly characterised. However, quantitative evaluation of cardiovascular function is important to predict the clinical course and to manage the fetus optimally. To date, the routine evaluation of fetal cardio vascular function has relied largely on Doppler echocardiography which enables an estimate of haemodynamics; newer modalities such as measurement of myocardial velocities are employed less routinely. Fetal magnetic resonance imaging still lacks the resolution necessary to contribute significantly to morphological or functional assessment of the fetal cardiovascular system.

Gestational diabetes (GDM) is defined as “carbohydrate intolerance of variable severity with onset or first recognition during pregnancy.” The definition is applicable regardless of whether insulin is used for treatment or the condition persists after pregnancy. It does not exclude the possibility that unrecognized glucose intolerance may have antedated the pregnancy”. GDM complicates 3–15% of all pregnancies and is a major cause of perinatal morbidity and mortality, as well as maternal long term morbidity. Of all types of diabetes, gestational diabetes (GDM) accounts for approximately 90–95% of all cases of diabetes in pregnancy.

Current hypotheses regarding the origins of preeclampsia have focused on the “Two stage model”. This model suggests that the primary steps in the pathophysiologic sequence of preeclampsia are initiated by abnormal placentation including the classic finding of abnormal trophoblast invasion of maternal decidual spiral arteries. The second stage of the sequence includes the elaboration of a single or multiple substances from these disordered placentas which contribute to the generalized maternal systemic illness, eventually manifesting as endothelial injury, hypertension and proteinuria. Recent studies have focused on the role of pro and anti-angiogenic peptides as potential placentally derived aetiologic agents in this pathophysiologic sequence, although other placental products have been highlighted in recent research. Despite the fact that this modeling of preeclampsia has widespread support significant limitations to this hypothesis can be identified.

The last century has seen dramatic developments in medical care as technological advances have been applied to both diagnosis and treatment. Some areas of obstetrics have been slow to benefit from these advances – and none more so than the care of the fetus in labour.

Corticosteroid treatment before preterm delivery was shown to be effective in reducing neonatal respiratory distress syndrome (RDS) more than three decades ago. The beneficial effect of steroids was further confirmed by Roberts and Dalziel's meta-analysis of 21 randomised controlled studies (RCT), which was published as a Cochrane Review in 2006. The authors concluded that the administration of a single course of steroids improved neonatal outcome, reducing RDS by 60%, periventricular haemorrhage (PVH) and necrotizing enterocolitis (NEC) by half, and neonatal death (NND) by 70%. However, these beneficial effects do not last for more than 7 days. Furthermore, steroids take at least 24 hours to be fully effective. Hence, it was advocated in the 1990's that regular weekly booster courses be given in order to maintain the therapeutic effects in high risk cases, as the timing of preterm birth cannot be readily predicted.