Chapter 1: The Fetal Neurology Clinic

KEY POINTS

As with other scientific fields, the first ultrasound diagnosis of a fetal brain anomaly by Campbell and colleagues in 1972¹ was preceded by the work of many engineers, physicists, and physicians.² Following this seminal work, a rapid succession of studies demonstrated the feasibility of the diagnosis of other central nervous system (CNS) conditions such as neural tube defects,^3,4 hydrocephalus,⁵ hydranencephaly,⁶ and microcephaly.⁷ Later, in 1988, Romero and colleagues in their classic textbook created the basis for the prenatal diagnosis of congenital anomalies.⁸ Parallel with these descriptive studies, Prechtl and his group used ultrasound to study fetal behavioral states^9–11 and eye movements,¹² becoming the vanguard in the field of fetal neurology.¹³ By this time Levene, Bennett, and Punt published Fetal and Neonatal Neurology and Neurosurgery,¹⁴ a book that included chapters by Birnholz, Pilu, and Hobbins on fetal ultrasound.

During these years, the study of the fetal brain was based mainly on the visualization of two or three axial planes obtained with transabdominal transducers. The demonstration of normal biometric parameters that included the biparietal diameter, the head circumference, the lateral ventricular width, and the cisterna magna size was believed to rule out with confidence most cases of significant CNS anomalies.¹⁵

Further advances in the field of fetal neurology were made with the introduction of two new techniques: high resolution transvaginal probes,¹⁶ enabling not only the ability to obtain good coronal and sagittal planes but also to acquire entire 3D volumes of the brain, and MRI T2- and T1-weighted fast sequences.¹⁷ Another important aspect of the prenatal diagnosis of CNS anomalies was the understanding that a normal second-trimester ultrasound examination does not necessarily rule out some rare but serious congenital disorders.¹⁸

At this point it was apparent that the possibility of reaching a diagnosis was not the end of the process but its beginning. To be able to give accurate counseling, to cope with the emotional effects of the “bad news,” and to treat the mother and her unborn child, it was clear that more than one care provider was needed. This conclusion led independently and almost simultaneously to the creation of our multidisciplinary fetal neurology clinic (FNC)¹⁹ as well as similar ones in Europe.^20–22

This particular experience, starting more than 25 years ago, served as a reference for the creation of FNCs in Asia and the United States.^23–26 Each of these clinics created its own workflow based on available resources and services.