scholarly journals Positive predictive value of non-invasive prenatal screening for fetal chromosome disorders using cell-free DNA in maternal serum: independent clinical experience of a tertiary referral center

BMC Medicine ◽  
2015 ◽  
Vol 13 (1) ◽  
Author(s):  
Whitney A. Neufeld-Kaiser ◽  
Edith Y. Cheng ◽  
Yajuan J. Liu
Author(s):  
Amber Mathiesen ◽  
Kali Roy

This chapter provides information about a genetic counselor’s role in prenatal screening, including discussing and offering options to a patient, interpreting and providing results, or managing referrals based on abnormal results. It discusses how a screen is evaluated using sensitivity, specificity, positive predictive value, negative predictive value, and personal utility. It provides a detailed description of both maternal serum screening and cell-free DNA testing. The maternal serum screening discussion includes information on multiples of median, calculating risk, timing, pattern association, limitations, and follow-up. The review of cell-free DNA testing includes fetal fraction, methodology, test performance, limitations and considerations for testing, and follow-up. This chapter also provides a list of additional resources to use for cell-free DNA testing.


PLoS ONE ◽  
2017 ◽  
Vol 12 (3) ◽  
pp. e0167130 ◽  
Author(s):  
Charles M. Strom ◽  
Ben Anderson ◽  
David Tsao ◽  
Ke Zhang ◽  
Yan Liu ◽  
...  

2018 ◽  
Vol 104 (1) ◽  
pp. 66-70
Author(s):  
Omidreza Sedigh ◽  
Mirko Preto ◽  
Farzin Soleimanzadeh ◽  
Giancarlo Marra ◽  
Marco Falcone ◽  
...  

Purpose: Inguinal lymphadenectomy (iLAD) reduces mortality in patients with cN0 penile cancer but yields high complication rates. Thus, its prophylactic role has been questioned and dynamic sentinel node biopsy (DSNB) was introduced to select men who should undergo the procedure. Our aim was to investigate the accuracy of a contemporary DSNB cohort. Methods: We performed a retrospective analysis of ≥T1 or ≥G2 cN0 penile cancer undergoing perioperative DSNB from June 2009 to June 2015 at a tertiary referral center. We excluded men with <18 months follow-up or with local recurrence after primary curative treatment. Complications were graded according to the Clavien-Dindo classification. Results: Thirty-five men underwent DSNB; 85.71% had ≤T2 penile cancer with ≤G2a histology. Per groin detection rate was 80% (scintigraphy being positive bilaterally in 60% and unilaterally in 20.0%). In no cases did DSNB prolong the postoperative course compared to primary surgery. Nine men (n = 15/109 nodes removed) had positive results, 8 of whom underwent iLAD. Among negative DSNB patients, 2 developed nodal penile cancer recurrence; none of them had node biopsy due to inconclusive scintigraphy. At a median follow-up of 42 months (interquartile range 30-78 months), if considering only men with scintigraphy detected inguinal nodes, per-patient sensitivity and specificity were 50% and 80% whereas positive predictive value and negative predictive value were 25% and 92.3%, respectively. Conclusions: Perioperative DSNB is a safe procedure, yielding promising results when performed at a tertiary referral center. Future prospective large studies are needed to investigate how to optimize detection rate and reduce false-negative rates.


2015 ◽  
Vol 292 (3) ◽  
pp. 543-548 ◽  
Author(s):  
Gwendolin Manegold-Brauer ◽  
C. Berg ◽  
A. Flöck ◽  
A. Rüland ◽  
U. Gembruch ◽  
...  

2019 ◽  
Vol 07 (06) ◽  
pp. E837-E840
Author(s):  
Theodore W. James ◽  
Y. Claire Fan ◽  
Lauren D. Schiff ◽  
Lisa M. Gangarosa

Abstract Background and study aims Endometriosis affects a significant proportion of reproductive-aged women and involves the bowel in up to one-third of patients with the condition. Lower endoscopic ultrasound (LEUS) in assessment of endometriosis of the rectosigmoid colon was first described 20 years ago in European populations. The current study aimed to describe the diagnostic characteristics of this imaging modality at a tertiary US referral center in a large cohort and its impact on surgical planning. Patients and methods This was a retrospective cohort study of adult women evaluated for rectosigmoid endometriosis by LEUS at an American tertiary referral center between January 2003 through June 2017. The reference standard for rectosigmoid endometriosis was surgical evaluation regardless of whether tissue was obtained for histologic evaluation. Two separate analyses were run; one comparing EUS to laparoscopic findings and another comparing EUS to histologic findings. Results LEUS demonstrated a positive predictive value (PPV) of 93.8 % (CI:68.1,99.1) and negative predictive value (NPV) of 96.4 % (CI:87.8,99.0) in the diagnosis of rectosigmoid endometriosis. Test sensitivity was 88.2 % (CI:63.6,98.5) and specificity was 98.2 % (CI:90.1,99.9). Overall diagnostic accuracy of the test was 95.8 % (CI:88.1,99.1). Conclusions In this large cohort of women at an American tertiary referral center undergoing evaluation for rectosigmoid endometriosis, LEUS demonstrated high PPV and NPV as well as excellent diagnostic accuracy. In addition, the LEUS findings provided important information to the referring gynecologic surgeon. This minimally-invasive imaging modality should be utilized in preoperative evaluation of women undergoing surgery for suspected or known endometriosis.


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