The role of CGH array in fetus with structural abnormalities: a monocentric retrospective study

The aim of the study was to evaluate the role of array-CGH (aCGH) in changing parents' decision to continue or terminate pregnancy in fetuses with structural anomalies. Retrospective cohort study conducted at Policlinico di Modena (2014-2022) including singleton pregnancies with a structural abnormality/genetic indication to amniocentesis. Continuous variables were compared using t-test or Mann Whitney U-tests; the Chi-square or Fishers' exact tests were used for binary or categorical variables (p-value < 0.05). 131 women were included with a fetal anomaly in 95.4% of cases with 1, 2 or 3 systems involved in 72.8%, 22.4% and 4.8%, respectively. A standard karyotype abnormality was detected in 10 (9.9%). aCGH analysis was performed in 121 fetuses, being positive in 25 fetuses (25/121, 20.7%). Termination of pregnancy (TOP) was chosen by 47 (35.8%) women: 25 (26%) in the negative aCGH group, 15 (60%) in the positive aCGH group, 7 (70%) with karyotype abnormalities. 21 patients opted for TOP before genetic results based on the fetal anomaly only (17.8% in the negative aCGH group vs. 16% positive aCGH group, p = 1). However the rates of TOP after the genetic results were significantly higher in the group with a positive aCGH (44% vs 8.3%, p-value < 0,001). 84 (64.1%) carried on the pregnancy: 71 (73.9%) in the negative aCGH group, 10 (40%) in the positive aCGH group and 3 (30%) with standard karyotype abnormalities. The rate of pregnancies continuing in the negative aCGH group was significantly higher (73.9% vs. 40%, p = 0.003). Finally, the rate of positive aCGH did not differ according to the system involved (p > .05) but it was significantly higher with 3 systems involved (16% vs. 1%, p = 0.006). The use of the aCGH was confirmed to be useful in the patient's decision-making process regarding whether to continue the pregnancy or not, not only after a positive result but also when negative, being reassuring in case of an isolated fetal anomaly with a good prognosis.