ABSTRACT
OBJECTIVES: Increased nuchal translucency and cystic hygroma have a neonatal prognosis, when the karyotype is normal, which depends on the findings during the medical follow-up. Array comparative genomic hybridization (aCGH) has been systematically included in this follow-up by prenatal diagnosis teams. There are no guidelines and little information on the advantages of carrying out this test systematically. The aim of our study is to evaluate the contribution of the aCGH in the medical follow-up. METHODS: Fifty-one patients were included during 18 months and followed till the end of their pregnancy in prenatal diagnosis centers in Brest and Amiens. Inclusion criterion was a nuchal translucency above 3,5mm on the first trimester ultrasound. A fetal DNA ChromoQuant and aCGH analysis on chorionic villi sampling, and an ultrasound at 18 weeks of gestation were performed during the follow-up. RESULTS: The aCGH was decisive in only 2 cases. The ultrasound at 18 weeks gestation seemed to be more sensible in the detection of an abnormality. When the aCGH relieved an abnormality, the ultrasound permitted already to detect the presence of a deformity. In 10 cases, the aCGH could not be interpreted on the chorionic villi sampling. In 9 cases, an amniocentesis was performed in order to obtain this result. CONCLUSION: Given the results of this study, the aCGH was rarely determinant or decisive on the realization of a therapeutic abortion. These elements make us reflect on the necessity of maintaining this test before 14 weeks of gestation or propose it as a second-line test after the ultrasound shows signs at 18weeks of gestation.
Subject(s)
Comparative Genomic Hybridization/methods , Nuchal Translucency Measurement , Prenatal Diagnosis/methods , Abortion, Therapeutic , Amniocentesis , Chorionic Villi Sampling , Female , Genetic Testing , Gestational Age , Humans , Infant, Newborn , Karyotype , Oligonucleotide Array Sequence Analysis , Pregnancy , Pregnancy Trimester, First , Prognosis , Ultrasonography, PrenatalABSTRACT
OBJECTIVE: To determine the frequency and nature of copy number variants (CNVs) identified by chromosomal microarray analysis (CMA) in a large cohort of fetuses with isolated increased nuchal translucency thickness (NT) ≥ 3.5 mm. METHODS: This was a retrospective, multicenter study, including 11 French hospitals, of data from the period between April 2012 and December 2015. In total, 720 fetuses were analyzed by rapid aneuploidy test and the fetuses identified as euploid underwent CMA. CNVs detected were evaluated for clinical significance and classified into five groups: pathogenic CNVs; benign CNVs; CNVs predisposing to neurodevelopmental disorders; variants of uncertain significance (VOUS); and CNVs not related to the phenotype (i.e. incidental findings). RESULTS: In 121 (16.8%) fetuses, an aneuploidy involving chromosome 13, 18 or 21 was detected by rapid aneuploidy test and the remaining 599 fetuses were euploid. Among these, 53 (8.8%) had a CNV detected by CMA: 16/599 (2.7%) were considered to be pathogenic, including 11/599 (1.8%) that were cryptic (not visible by karyotyping); 7/599 (1.2%) were CNVs predisposing to neurodevelopmental disorders; and 8/599 (1.3%) were VOUS. Additionally, there was one (0.2%) CNV that was unrelated to the reason for referral diagnosis (i.e. an incidental finding) and the remaining 21 were benign CNVs, without clinical consequence. Interestingly, we identified five genomic imbalances of the 1q21.1 or 15q11.2 regions known to be associated with congenital heart defects. CONCLUSION: Our study demonstrates the benefit of CMA in the etiological diagnosis of fetuses with isolated increased NT. It is worth noting that most (69%) of the detected pathogenic CNVs were cryptic. Copyright © 2017 ISUOG. Published by John Wiley & Sons Ltd.
Subject(s)
Chromosome Aberrations , DNA Copy Number Variations , Oligonucleotide Array Sequence Analysis/methods , Prenatal Diagnosis/methods , Adolescent , Adult , Aneuploidy , Chromosomes, Human/genetics , Female , Gestational Age , Humans , Maternal Age , Nuchal Translucency Measurement , Pregnancy , Retrospective Studies , Young AdultABSTRACT
OBJECTIVE: Ankle Brachial Pressure Index (ABPI) by Doppler ultrasound is the gold standard non invasive method for screening of peripheral arterial disease (PAD). This reference method is little used in routine practice, particularly by vascular disease specialists since the most recent ultrasound devices no longer have continuous wave probes. The purpose of our survey was to assess interobserver reproducibility of color-Doppler measurements made in a first population, then second, to assess the correlation between ABPI measurements made with color-Doppler and with ultrasound Doppler in a second population. METHODS: One hundred twenty patients meeting screening criteria for AOMI defined by the French Health Authorities (HAS, 2006) participated in the study between October 2010 and April 2011 in the Echo Doppler and Vascular Medicine unit of the Brest University teaching hospital: 22 patients for interobserver reproducibility and 98 for color-Doppler - continuous Doppler correlation study. Two independent operators measured the ABPI index in each of the 98 patients using color-Doppler and continuous Doppler in random order, producing 353 measurements. Reliability and reproducibility were assessed using the intraclass correlation coefficient of correlation (ICC) determined with Spearman and the Bland-Altman methods. RESULTS: The ABPI was less than 0.90 in 62% of patients. The color-Doppler reproducibility study showed a mean difference of 0.02 [95% CI: -0.02 to 0.17] using the Bland Altman method with ICC equal to 0.89 (P<0.001). For the intermethod correlation study, the mean difference was 0.03 [95% CI: -0.17 to 0.23], with ICC equal to 0.84 (P<0.001). CONCLUSION: Color-Doppler could be an alternative to Doppler ultrasound for PAD screening or follow-up, depending on the results of further evaluations in larger populations.
Subject(s)
Ankle Brachial Index , Arteriosclerosis Obliterans/diagnostic imaging , Observer Variation , Peripheral Arterial Disease/diagnostic imaging , Ultrasonography, Doppler/methods , Aged , Female , Humans , Leg/diagnostic imaging , Male , Middle Aged , Reproducibility of Results , Risk Factors , Selection Bias , Sensitivity and Specificity , Systole , Ultrasonography, Doppler, ColorABSTRACT
Mondor's disease is spontaneously remitting benign superficial thrombophlebitis involving healthy veins. Fewer than 400 cases have been reported in the world literature. Typically, subcutaneous angiitis is observed on the upper anterolateral aspect of the chest wall. We report three cases in which Mondor's disease occurred after surgery for breast cancer in one patient, and had no apparent cause in two other patients. The relationship with breast cancer and risk factors suggests that routine mammography is advisable. For patients presenting idiopathic Mondor's disease, follow-up is of utmost importance.