Non-invasive cell-free DNA prenatal screening for trisomy 21 as part of primary screening strategy in twin pregnancies.

OBJECTIVES: The performance of non-invasive prenatal screening using cell-free DNA testing in maternal blood in twin pregnancies is still under-evaluated, while serum marker-based strategies yield poor results. This study aims at assessing the performance of non-invasive prenatal screening for trisomy 21 in twin pregnancies as a first-tier test. The secondary objectives were to assess the failure rate and associated factors. METHODS: This retrospective cohort study included twin pregnancies for which non-invasive prenatal screening using cell-free DNA was performed as the primary screening strategy between May 2017 and October 2019. We used the NIPT VeriSeq® test for in vitro diagnosis and set a fetal fraction cut-off of 4% for monochorionic pregnancies and 8% for dichorionic ones. Clinical data and pregnancy outcome was collected from either physicians or midwives through a questionnaire or were retrieved directly on site. We calculated the performance of non-invasive cell free DNA screening for trisomy 21 and analyzed failure rate and factors. RESULTS: We included 2577 multiple pregnancies among which 1885 (84.8%) were retained after excluding vanishing twins and pregnancies without follow-up. Overall, there were six confirmed trisomy 21 cases (0.32%). For trisomy 21, sensitivity was 100% (95% CI, 61-100%) and the false-positive rate 0.2% (95% CI, 0.07-0.6%). The primary failure rate was 4.6% with 4% due to insufficient fetal fraction. After a new blood draw (59.8% of failed cases), failure rate was only 1.5%. Body mass index and chorionicity were significantly correlated with the risk of failure. CONCLUSION: This study adds further evidence on the high performance of NIPS in twins, as part of the primary screening strategy for trisomy 21, at an extremely low false-positive rate. This article is protected by copyright. All rights reserved.

[Primary chronic ulcerative jejunoileitis complicated by hemophagocytic syndrome]. / Jéjuno-iléite ulcérée chronique primitive compliquée d'un syndrome hémophagocytaire.

An observation of chronic ulcerative ileo-jejunitis associated with a hemophagocytic syndrome leading to death is described. It was not associated with coeliac disease. The hemophagocytic syndrome had no other etiology than chronic ulcerative ileo-jejunitis. The relations between these two disorders are discussed.

[Angina-like chest pain and exertional esophageal ph monitoring]. / Douleurs thoraciques pseudo-angineuses et pH-métrie oesophagienne d'effort.

OBJECTIVES: Spontaneous chest pain attacks are uncommon during 24-hour esophageal pH monitoring in patients suffering from angina-like chest pain suspected to be acid-related. The aim of this study was to assess the diagnostic value of exertional esophageal pH monitoring and to prove that exercise testing induces chest pain and gastro-esophageal reflux and therefore improves symptomatic correlation study. METHODS: Forty three patients suffering from angina-like chest pain underwent treadmill exercise testing during a 24-hour esophageal pH monitoring. Symptom analysis was made using the symptom-association probability described by Weusten. RESULTS: During the 24-hour pH monitoring, 10 patients (23%) had a pathologic esophageal acid exposure, 20 (46%) experienced chest pain and 3 (7%) had a symptom association probability > 95%. During the exercise testing on a treadmill, 19 patients (44%) had gastro-esophageal reflux, and 14 (32%) experienced chest pain, coinciding with a gastro-esophageal reflux in 8 (19%). After exercise testing, the symptom-association probability analysis was significantly changed in 9 patients (21%), > 95% in 6 patients (14%). CONCLUSION: Exercise testing on a treadmill induces chest pain episodes during a 24-hour esophageal pH monitoring and therefore improves symptomatic correlation study in patients suffering from angina-like chest pain.

[Pneumatosis cystoides intestinalis. Apropos of a case]. / La pneumatose kystique intestinale. A propos d'un cas.

Pneumatosis cystoides intestinalis is most frequently characterised by the presence of gaseous cysts, in the intra-parietal, subserous or sub-mucous zones of the colon. This complaint, with symptoms of non specific colic and the cause of chronic pain, generally progresses favourably but can be responsible for surgical complications. Characteristic signs are detected on an plain abdominal X-ray and by colonoscopy. The diagnosis can be established by CT or by ultrasonography but needs carefully trained operators. CT remains the most successful technique for the initial diagnosis and subsequent follow-up. Ultrasonography can also be used for follow-up. As the lesions regress rapidly, the diagnosis must established rapidly, otherwise the disorder might easily be incorrectly diagnosed.