Historically, fetal medicine has been limited by the inaccessibility of the human fetus in the uterus. Advances in the last three decades in imaging techniques such as ultrasound and MRI as well as cytogenetics and intrauter-ine surgical techniques mean that we can now accurately diagnose and offer curative or ameliorative treatments for many conditions that were previously only treatable in the neonatal period.
Referrals for specialist fetal medical assessments are usually based on women falling into a high-risk category either on routine antenatal screening for Down's syndrome or a structural anomaly or on her own medical or family history such as a known genetic syndrome or because of a previously affected pregnancy/child. Once a referral has been made then the underlying principles of fetal medicine are broadly categorized into either preventing 'wrongful birth' or prevention of perinatal mortality and post-natal disability. These are achieved by accurate diagnosis of the fetal anomaly, a multidisciplinary approach to decisions on management and counselling of parents. Management options would include conservative management, offering a termination of pregnancy where appropriate, antenatal therapeutic interventions and decisions on timing, mode and place of delivery.
However, the practical aspects of fetal medicine are far from the simplistic pathway outlined earlier. Although in some cases the diagnosis may be clear from the initial detailed imaging or invasive karyotyping, in many cases the diagnosis is uncertain either because of poor images, fetal position or the complex nature of an anomaly. Even if a diagnosis is made the detailed natural history of many fetal conditions are unknown or the lesions may evolve during the pregnancy such that the prognosis will change as the pregnancy progresses.
The aim of this chapter is to discuss some of the practical aspects of fetal medicine in terms of being able to make accurate diagnosis and deciding on management options such as which pregnancies should be offered a termination of pregnancy and which should be offered therapeutic interventions in utero or simply monitored until delivery when post-natal intervention would be most appropriate and finally decisions on the timing, mode and place of delivery.
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Once your pregnancy is over and done with, your baby is happily in your arms, and youre headed back home from the hospital, youll begin to realize that things have only just begun. Over the next few days, weeks, and months, youre going to increasingly notice that your entire life has changed in more ways than you could ever imagine.