Interventions
anomaly, Down syndrome
KLINEFELTER, DOWN SYNDROME
The intervention group received individual CBC in four sessions by phone in addition to routine care. Two sessions per week were held and each session lasted about 90–120 min. The counselling sessions were conducted by the second author who had passed a course on the Cognitive Behavioral Counseling method in a private clinic in Zanjan. Then, a Cognitive Behavioral Counseling program was developed by the researchers. The timing of the sessions was determined by the agreement of the participants. The control group received routine care that included nutritional counselling during pregnancy within the framework of the intervention group counselling. In our study, both groups were referred to a Perinatologist, for further treatment. According to the recommendation of the latest Iran Ministry of Health guideline, for the medium risk of the first-trimester screening tests the following two recommendations are acceptable. 1-Performing quad marker test in the 15th week of gestational age and combining it with the first trimester and reporting the unit risk in the form of a sequential protocol. 2- NIPT test.It is mandatory to perform an anomaly scan in the 18th to 20th week of gestational age by measuring the markers in both recommendations even if the answer was normal.Second-trimester screening tests put mothers in two risk groups. The first group are those who are in the high-risk group after measuring biochemical markers, and these women are also suggested to perform an invasive diagnostic test such as amniocentesis. The second group is low-risk people who do not need any other tests. To check the karyotype of the fetus, amniocentesis is performed in the second trimester. Termination of pregnancy is recommended if the karyotype result is abnormal.All the study participants had the intermediate risk reported for Down syndrome and none of them had the risk for other anomalies. All mothers performed the second quad marker screening during the 15th to 17th week of pregnancy which showed that all of them were within the low-risk limit. One of the mothers used the NIPT screening with the opinion of a Perinatologist, which was negative for Down syndrome but it was positive for Klinefelter and the mother decided to keep the fetus. All of the participants were done anomaly scans in the 18th to 20th week of gestational age. There was no attrition in the study and after the interventions. The researchers and participants were not blinded.