Demographic information

Sixteen couples were cared for by our Perinatal Hospice during the study period. All couples were included in a codified clinical-care pathway. During the prenatal phase, they underwent regular check-ups in an obstetric outpatient clinic, with access to all necessary specialist consultations depending on the anomalies detected during ultrasound examinations (genetics, pediatric cardiology and cardiac surgery, child neuropsychiatry, pediatric neurosurgery, pediatric nephrology, pediatric surgery). Throughout the Perinatal Hospice pathway couples were supported by:

1.

Regular psychological consultations;

2.

Spiritual support, if desired;

3.

Accompaniment by a family from the "Il Cuore in una Goccia" foundation, who had previously experienced a similar situation.

For each couple, the Perinatal Hospice team held one or more multidisciplinary meetings, always involving the clinical ethics consultation. Following each interdisciplinary evaluation, the team shared the identified clinical-ethical care orientation with the couple. Based on this discussion, the ethics consultant developed a Shared Document [12] that outlined the care plan for key moments of the pregnancy, including potential prenatal palliative treatments, the type and timing of delivery, assistance at birth, and the possibility of Baptism in the delivery room. This Shared Document was signed by both the Perinatal Hospice team and the parents and was included in the pregnant woman’s medical record.

Fourteen babies were born alive, one pregnancy resulted in fetal demise and one couple interrupted the pregnancy. Among liveborn babies, 7 died within few hours; 3 died within the first day; one died at 21 days; one died at three months; one reached the age of 5 and finally one baby girl is still alive (Fig. 1).

Fig. 1

Flowchart summarizing inclusion of pregnancies with prenatal diagnosis of Trisomy 18. IVG (voluntary interruption of pregnancy); IUFD (intrauterine fetal demise)

The liveborn babies received Baptism at birth, if the parents wished so, along with photos and videos as keepsakes. Both parents were always present, including in cases of cesarean delivery. Babies who died within a few hours were provided with comfort care. Those who survived were reassessed by the Perinatal Hospice team, involving the clinical specialists consulted prenatally and the ethics consultation to evaluate the proportionality of intensive or invasive treatments.

As showed in Table 1, the mean maternal age was 38.3 years (29–45). The type of delivery was cesarean section in 10 (71,4%) cases and vaginal delivery in 4 (28.6%) cases. The mean gestational age at delivery was 35,5 weeks (range, 32–37) and the mean neonatal weight was 1456,5 gr (range 1050–2135 gr). Eleven (78,6%) babies were females, 3 (21,4%) were males. The mean gestational age at diagnosis was 18,7 (range, 13–31) weeks. Nine (56,2%) couples did a non-invasive prenatal test and they all resulted in a high risk for aneuploidies. 13 (81,2%) patients underwent an invasive procedure for the final diagnosis. Three (18.7%) couples chose not to undergo invasive procedures.

Table 1 Baseline characteristics of the initial 16 studied pregnancies with prenatal diagnosis of Trisomy 18. Variables are reported as mean (range) and n (%)

Table 2 shows the main features of the 16 babies followed in our Center, while Table 3 reports specific system-abnormalities detected at prenatal ultrasounds.

Table 2 Main features of the 16 cases with prenatal diagnosis of Trisomy 18Table 3 Ultrasound abnormalities in T18 fetuses (both liveborn and non-liveborn)

The most common ultrasonographic findings were intrauterine growth restriction and interventricular septal defects both detected in 10 (62,5%) fetuses, polyhydramnios in 6 (37,5%) fetuses, enlarged cisterna magna in 4 (25%) fetuses, cerebellum hypoplasia in 3 fetuses (18,7%), renal abnormalities in 3 fetuses (18,7%), arthrogryposis in 3 cases (18,7%), omphalocele in 3 fetuses (18,7%), clubfoot in 3 cases (18,7%), agenesis/dysgenesis of the corpus callosum in 2 fetuses (12,5%), absence of the nasal bone in 2 fetuses (12,5%), single umbilical artery in 2 babies (12,5%) and choroid plexus cysts in 1 (6%) fetus.

Analyzing systems in depth, cardiac prenatal defects were found in 93.7% of cases, including ventricular septal defects (62.5%), atrioventricular canal (18.7%), tetralogy of Fallot (12.5%), aortic coarctation (12.5%), patent ductus arteriosus (6.2%), aberrant right subclavian artery (6.2%), polyvalvular disease (6.2%), pericardial effusion (6.2%), univentricular heart (6.2%), hypoplastic left heart (6.2%) and hypoplastic right heart (6.2%). Only one baby had no cardiac abnormalities prenatally. After birth, 5 babies had an echocardiogram performed, and 2 of them underwent corrective cardiac surgery.

Structural abnormalities were recorded in 71.4% of cases, mainly represented by lower extremity deformities and arthrogryposis (43.7% and 18.7%, respectively).

Respiratory defects were detected in 14.3% of the fetuses antenatally, while genitourinary defects interested almost half of our study population. Specifically, the main abnormalities concerning the genitourinary tract were a bilateral renal hypotrophy associated with megacystis in a baby who died in utero; a bilateral cystic renal dysplasia; a duplex renal collecting system and hypospadias.

Prenatal central nervous system defects affected almost all the babies (78.5%). The main abnormalities found were enlarged cisterna magna (31,2%), Dandy-Walker Syndrome (18.7%), agenesis of the corpus callosum (12.5%), ventriculomegaly (12.5%), choroid plexus cysts (12.5%), microcephaly (6.2%), and Chiari malformation type 2 (6.2%).

Survival rate was commonly less than 1 day (50%), however two girls, A.R. and M.V.R., survived over 4 years.

Questionnaire

A 4-item questionnaire was administered to the couples enrolled. One couple was excluded as they chose to terminate the pregnancy. The remaining 15 couples were contacted by phone at the end of the data collection to answer the questionnaire. 12 couples answered the phone call while 3 couples didn’t. Among the 12 couples who responded, 3 of them requested to receive the questions by email, however only one replied (Fig. 2). At the time of the survey, only one baby girl was still alive, at the age of 6. We created a new questionnaire tailored to the population we enrolled, based on questionnaires already used in the literature and on the main concerns we observed in couples during follow-up, such as the relationship with the partner and the possibility of future pregnancies. We intentionally chose open-ended questions to give couples the opportunity to express themselves and openly share their feelings.

Fig. 2

Flowchart summarizing couple’s participation to the survey

Answers were analyzed and the main results were categorized as follows:

(1)

Reasons for continuing the pregnancy;

(2)

Couples’ joint decision;

(3)

Any second thoughts or regrets about going back;

(4)

Impact of the prenatal diagnosis on couples’ desire to have another baby.

Reasons for continuing the pregnancy

Six couples (60%) made that decision for religious beliefs, other than that 5 couples (50%) stated that they didn’t feel right to make a choice about their baby’s life only because it was not the baby they expected, since its life had to be protected. One woman said she hoped that something could have been made to save her daughter. Also, 3 couples (21.4%) remarked that they had been trying to get pregnant for a long time so they didn’t feel right to interrupt the pregnancy.

Couples' joint decision

Seven couples (70%) stated that both the parents agreed from the beginning. In 2 cases (20%), at the beginning the father was doubtful but then agreed. Finally, in 1 case (10%) the parents kept on disagreeing until the end.

Any second thoughts

All the 10 couples (100%) who answered the questionnaire stated that they are happy about the choice they made and that they would do it again.

Impact of the prenatal diagnosis on couples’ desire to have another pregnancy

Seven couples (70%) did not have other pregnancies subsequently but 2 of them are trying. Three couples (30%) had at least another pregnancy, however in one case it resulted in a miscarriage, while another couple is expecting the second child.