Outcome of fetuses with malformations discovered before 14 weeks. Where the discovery is revealed by echography during the first trimester, is it responsible for the voluntary termination of the pregnancy? Comparison before and after July 2001

The aims of this study were to review detection of fetal malformations during the first trimester and to study pregnancy and infant outcomes. We wanted to check if the lengthening of the legal delay for volontary termination of pregnancy changes the outcome of the pregnancy, in cases outside of the legal requirements. This study was overseen by the french college of fetal echography (CFEF). All the cases of abnormality detected before 14 weeks' gestational age, excluding the isolated increased nuchal translucency, were extracted from the total population examined, and details were entered into the database of the French College of Fetal Echography. All case records were then analyzed. We compared two populations: before and after July 2001. We observed 336 fetuses with malformation(s), 108 before July 2001 and 208 after that date. One percent (0.5-1.6) of scans performed between 10 and 14 weeks revealed fetal abnormalities apart from isolated increased nuchal translucency. Of the 336 cases retained for investigation, 109 increased nuchal translucency or hygroma associated with other malformation(s), 103 central nervous system anomalies, 85 malformations of the thoracoabdominal wall, 81 limb abnormalities, 41 had renal malformations, 28 spinal abnormalities, 21 had heart malformations, 16 involved biometric abnormalities, 12 involved abnormalities of the appendages, and 11 facial abnormalities. Medical termination of pregnancy was performed in 75% of cases. Death in utero occurred in 9% of cases, 12% of infants were born alive. In 3.9% of cases, an abortion was performed. There were no differences between both populations before and after July 2001. Excluding isolated increased nuchal translucency or hygroma, malformation before 14 weeks' gestational age was detected in 1% of fetuses. The most common malformations detected in the first trimester were non-isolated increased nuchal translucency and malformations of the thoracoabdominal wall and the brain. The prognosis for fetuses with malformations detected during the first trimester was very poor as only 12% of these infants were born alive, some of them with severe malformations. In our study, and given its limitations, there were no differences between the number of voluntary terminations performed before and after July 2001.