Trisomy 18, also known as Edwards syndrome, is the most common aneuploidy after trisomy 21 diagnosed in the prenatal period. The overall prevalence is 1/2500 [1,2], but because of various factors such as advanced maternal age this is increasing [3,4]. Improvement in ultrasound technology and widespread use of cell-free DNA testing enable prenatal diagnosis of trisomy 18 at an early stage of pregnancy.

Trisomy 18 can present with a variety of phenotypes, ranging from severe multiple malformations with early mortality to a subnormal phenotype in adulthood in the case of mosaicism [5]. The risk of recurrence is about 1% in the case of complete trisomy 18. This risk is increased in the case of mosaicism [6]. It is therefore recommended that cell-free DNA testing be performed in the case of a medical history of trisomy 18 [7].

Approximately 83.3% of cases of trisomy 18 are detected in the first trimester by virtue of increased nuchal translucency thickness, omphalocele, anomalies of the extremities and megacystis [5].

In cases of trisomy 18 with no morphological abnormality detected in the first trimester ultrasound scan, multiple malformations are commonly found later. This can be suspected in the presence of intrauterine growth retardation (IUGR) with or without other organ anomalies [8]. In order of frequency, anomalies of the extremities are hand abnormalities, overlapping fingers and malposition of the feet [9]. Brain anomalies include choroid plexus cysts, in 50% of trisomy 18 cases, ventriculomegaly, aplasia of the corpus callosum, holoprosencephaly and microcephaly [9]. Finally, the most frequent cardiac anomalies are atrioventricular canal defects, ventricular septal defects and hypoplastic left heart.

Affected foetuses mostly die in utero or during the first weeks of life. Nevertheless, some foetuses with trisomy 18 can survive if medical or surgical treatment is performed [10]. In the case of a live birth, the child's comfort is prioritized.

When told that their child is affected by trisomy 18, parents often go through stages of shock, denial, anger and ultimately acceptance [11]. Couples must be supported psychologically in this ordeal.

The main objective of this study was to evaluate parents’ current demands following the announcement of trisomy 18.