Performance and oncologic safety of sentinel lymph node biopsy after neoadjuvant chemotherapy: Results from a tertiary care center in Lebanon.

BACKGROUND: The feasibility of sentinel lymph node biopsy (SLNB) after neoadjuvant chemotherapy (NACT) in initially node-positive patients is still controversial. We aim to evaluate the oncologic outcomes of SLNB after NACT and further compare the results between those who were initially node-negative and node-positive. METHODS: This is a retrospective cohort that included patients diagnosed with invasive breast cancer and had surgical management between January 2010 and December 2016. Survival and recurrence data after 3-5 years were collected from patients' records. We divided patients into Group A who were initially node-negative and had SLNB ± axillary lymph node dissection (ALND) and Group B who were node-positive and had SLNB ± ALND. RESULTS: Among initially node-negative patients, 43 out of 63 patients did SLNB (Group A). However, among initially node-positive patients only 28 out of 123 patients did SLNB (Group B). Out of the 71 patients who did SLNB after NACT, 26 patients had positive SLNs with only 14 patients who further underwent ALND. The identification rate of SLNB was 100% in Group A and 96.4% in Group B. The survival curves by nodal status showed no significant difference between overall survival and recurrence-free survival at 5 years between patients in Group A versus Group. CONCLUSION: The results suggest that in properly selected patients, SLNB can be feasible after NACT. Our results resemble the reported literature on accuracy of SLNB after NACT and adds to the growing pool of data on this topic.

Cell-based Noninvasive Prenatal Testing (cbNIPT)-A Review on the Current Developments and Future Prospects.

Considering the diagnostic limitations of cfDNA-based noninvasive prenatal testing (NIPT), scientists have long been interested in isolating and analyzing rare intact fetal and trophoblast cells from maternal blood or endocervical samples to diagnose fetal genetic conditions. These cells may be scarce and difficult to isolate, but they are a direct source of pure fetal genetic material. In this review, we summarize the history of cell-based NIPT, present an updated review on its current developments, evaluate its genetic diagnostic potential, and discuss its future prospects for clinical use.

Lower fetal fraction in clinical cell-free DNA screening results is associated with increased risk of hypertensive disorders of pregnancy.

OBJECTIVE: To evaluate if fetal fraction (FF) reported on cell-free DNA (cfDNA) screening is a marker for adverse obstetric outcomes. METHODS: We retrospectively reviewed medical records from a cohort of women with singleton pregnancies who had cfDNA screening. We evaluated if reported FF could predict the following pregnancy complications: hypertensive disorders of pregnancy (HDP), fetal growth restriction, preterm delivery, gestational diabetes mellitus, or a composite maternal morbidity, defined as the presence of at least one of these outcomes. RESULTS: Receiver operating curve analysis was performed on FF from 534 women to define the FF that differentiated a low FF group (<10%; N = 259) and a high FF group (≥10%; N = 275). Hypertensive disorders of pregnancy were more common for women in the low FF group (32.0% vs. 11.6% and p < 0.001), who had a two-fold odds of developing HDP (p = 0.006). Composite maternal morbidity was also more common for women in the low FF group (51.4% vs. 30.2% and p < 0.001), who had a 1.7-fold odds of developing any of the adverse obstetrical outcomes (p = 0.014). CONCLUSION: We found that low FF on cfDNA screening is associated with an increased risk of HDP. Fetal fraction reported that cfDNA screening reports have potential as a predictive marker for the development of HDP and adverse outcomes.

Lack of consensus among healthcare professionals at a large academic medical center on the use of exome sequencing for prenatal diagnosis.

Prenatal exome sequencing (ES) is increasingly used for prenatal diagnosis because emerging data indicate it has incremental diagnostic benefit in pregnancies with fetal anomalies without identified genetic abnormalities by karyotyping and chromosomal microarray analysis. The aim of this study was to evaluate the medical community's attitude toward the clinical utility and use of exome sequencing for prenatal diagnosis and to address differences in attitudes and responses by type of practitioner, level of training, and years passed since last full-time training. We analyzed the answers of 109 trainees and professionals in the fields of genetic counseling, laboratory science, and medicine to an online survey addressing these topics. Multiple-choice questions asked participants about their awareness of prenatal ES and what genetic test they would choose to order in certain scenarios. Likert-scale questions assessed participants' opinions of statements asserting when prenatal ES should be used for diagnostic testing. Attitude toward the use of prenatal ES statistically differed (p < 0.05) by type of participant and level of training. Practicing genetic counselors and physicians were more selective in their recommendations for prenatal ES than laboratory scientists. Genetic counseling students and practicing genetic counselors felt similarly about indications for the use of prenatal ES, whereas medical students were more liberal in their recommendations for prenatal ES than practicing physicians. This study shows a lack of consensus among the medical community regarding the clinical utility and indications for prenatal ES.

Circulating trophoblast numbers as a potential marker for pregnancy complications.

OBJECTIVE: To explore the potential of circulating trophoblasts (TBs) as a non-invasive tool to assess placental health and predict obstetric complications. METHODS: We retrospectively reviewed maternal characteristics and pregnancy outcomes of 369 women who enrolled in our original cell-based NIPT (cbNIPT) study. The number of circulating TBs recovered from the maternal blood samples was recorded and expressed as fetal cell concentration (FCC). We evaluated if FCC can be used to predict pregnancy outcomes such as hypertensive disorders of pregnancy (HDP), fetal growth restriction, placental abruption, preterm labor, and pregnancy loss. RESULTS: Receiver operating characteristic (ROC) analysis was performed to find the best cut off value to classify FCC into a low and high FCC group, and this cut-off point was calculated as 11.1 cells per 100 ml of blood. The adjusted odds ratio (aOR) for the composite morbidity was significantly increased for the high FCC group at an aOR of 1.6. CONCLUSION: Circulating TB have the potential of predicting obstetrical complications such as HDP. Future studies, with larger sample sizes, should focus on the study of these cells as a biomarker for placental health and a possible screening or diagnostic tool for fetal genetic conditions.

Review of Non-Communicable Disease Research Activity in Kuwait: Where is the Evidence for the Best Practice?

BACKGROUND: Kuwait, a small country in the Middle East, is now facing rapid development, with non-communicable diseases (NCDs) accounting for the majority of deaths. OBJECTIVES: In this study, we review trends in NCD research productivity in Kuwait and examine to what extent it is aligned with disease burden. METHODS: Systematic mapping of NCD papers produced between January 2000 and December 2013 yielded 893 publications. These were defined according to study design, study focus, and risk factors examined. Research gaps were assessed by examining disparities between literature produced and cause-specific proportional mortality rates (PMR) and disability-adjusted life years (DALYs). FINDINGS: While annual publication rates increased more than two-fold during the study period, many of the study methodologies were descriptive (58%). Only 2.6% were based on high-evidence interventional studies. Cancer, CVD, and diabetes featured in 38.1%, 15.1%, and 9.2% of the publications, respectively. Compared to PMR and DALYs, there was a surplus of cancer research, most of which were laboratory-based studies (27.6%) or of the case-report/case-series study type (26.5%). Smoking was more likely to be addressed in relation to CVD (32.6%) than diabetes (6.1%) or cancer (2.1%). Physical inactivity was mostly examined in its relation to diabetes (14.6%), with negligible representation in the remaining study focus (range 0.3% to 2.2%). CONCLUSION: NCD research production in Kuwait is not aligned with disease burden or health priorities. We recommend a coordinated action between funding agencies, universities, and researchers in Kuwait to guide development of a comprehensive research agenda that is responsive to the country's emerging needs.