ABSTRACT
Since its debut in 2011, Non-Invasive Prenatal Testing (NIPT) has continually demonstrated its effectiveness in detecting an expanding number of diseases. NIPT offers a less invasive approach to prenatal chromosomal disease screening, providing prospective parents with vital information to better prepare for their potential pregnancy outcomes. NIPT was primarily designed for screening trisomy 13, 18, and 21. However, its scope has since broadened to encompass microdeletions and autosomal dominant monogenic diseases. Conversely, the normalization of NIPT can have unintended consequences. Some patients opt for NIPT without any medical indications, driven by a desire to remain cautious. This over-screening for chromosomal abnormalities can exacerbate pregnancy-related anxiety, as individuals might feel pressured into taking the test unnecessarily. While NIPT can be highly successful when conducted correctly, it is not infallible, and obstetricians play a crucial role in managing patient expectations. This includes providing genetic counseling to individuals with relevant genetic information regarding their personal and family histories. In the context of NIPT, a bioinformatics analysis is performed on a cell-free DNA (cfDNA) sample extracted from the mother's placenta to determine the fetal fraction (FF). This FF measurement is vital for quality control and ensuring statistical confidence in the test results. Raising awareness among clinicians about the significance of FF enhances patient care and alleviate concerns about the possibility of failed NIPT. This paper aims to explore the ongoing debates and more specifically the significance and pitfalls of NIPT on a psychosocial and ethical scale, all while highlighting the importance of genetic counseling.
ABSTRACT
Objectives The early diagnosis of ectopic pregnancy is essential in determining the appropriate therapeutic approach. This study demonstrates the important factors considered in the prediction of a successful medical treatment, which will, in turn, improve the quality of patient counseling and guidance prior to the initiation of the treatment. Methods This was a retrospective cohort study of 58 ectopic pregnancies that were treated medically with methotrexate in Bahrain Defense Force (BDF) Hospital from January 2016 to January 2021. All patients that were offered medical treatment of ectopic pregnancy and completed the follow-up were included in the study. StatsDirect software was used to analyze the baseline characteristics of the successful and failed medical treatment of ectopic groups. Simple linear regression was used to correlate initial beta-human chorionic gonadotropin (ß-hCG) levels and the drop of ß-hCG levels after one week of medical treatment. Results Patients were divided into two outcomes: the primary outcome represented in the successful treatment group, 68.9% (40/58), and the secondary outcome represented in the unsuccessful treatment group 31% (18/58). The mean ß-hCG level in the successful group was significantly lower than that of the unsuccessful treatment group (1403.6±1421 IU/L versus 2845.1±1705 IU/L, p=0.001). There were no differences between the two groups with regards to the size of the adnexal mass, presence of gestational sac, or size of the gestational sac. The cut-off value of the initial ß-hCG level for successful medical treatment was 2,141 IU/L, with 72% sensitivity, 75% specificity, and receiver operator curve (ROC) of 0.76 [95% confidence interval (CI) = 0.63 to 0.89)]. The cut-off value of ß-hCG fell between day four and day seven and was 37.2%, with 78% sensitivity, 68% specificity, and a ROC curve of 0.72 (95% CI = 0.55 to 0.89). Conclusion This study found that low initial ß-hCG levels can be used to predict successful methotrexate treatment of ectopic pregnancy. In this cohort of patients, the cut-off level of initial ß-hCG for successful treatment was 2141 IU/L.
