Antenatal ultrasound diagnosis of fetal malformations: possibilities, limitations and dilemmas

The antenatal ultrasound diagnosis of fetal abnormalities in 150 fetuses over the period 1975-early 1983 is reported. The perinatal outcome of the whole series has been assessed. The most frequently encountered malformations involved the central nervous system (34.9%), the nephro-urological system (17.2%), and the gastro-intestinal tract, abdominal wall and diaphragm (17.1%). Neonatal findings in incompletely explained polyhydramnions, fetal hydrops, and severe intrauterine growth retardation are also commented upon. Numerical chromosomal abnormalities were present in at least 13.3% of the malformed fetuses. The accuracy of the antenatal ultrasound diagnosis in a defined subgroup with congenital malformations resulting in perinatal death was analysed: in 76.9% one (or more) malformations were correctly diagnosed or relevant information was obtained. Comment is made on the obstetrical management and its inherent dilemmas, with appropriate references to the literature. Antenatal ultrasound, together with complementary techniques, can reach an acceptable level of accuracy, but associated anomalies may be missed. Groups for which there are different prognoses can be assessed, and serve as a guideline in perinatal management. Ethical attitudes, psychological aspects, and the possible promises of fetal treatment are briefly discussed.