Adolescents Presenting with Mental Health Crises.

Aims The aim of the study is to examine emergency mental health (MH) presentations and assessments of adolescents (16-18) presenting to a Dublin adult emergency department (ED). Methods Clinical data was collected on all patients over a 12 month period. Results Seventy seven adolescents presented, the majority out of hours (n=58, 75%) and with either self-harm (n=34, 44%) or suicidal ideation (n=28, 36%), where females significantly outnumbered males (89% vs 66%; p=.028). Other presentations included low mood, anxiety and behavioural problems, and following assessment from an adult mental health service team member, 55% (n=39) were given an Axis I psychiatric diagnosis. Almost all adolescents were discharged following assessment (n=68, 96%), the majority being referred on to Child and Adolescent Mental Health Service (CAMHS) (55, 78%). Conclusion Crisis presentations to EDs often occur in adolescents with co-existing psychiatric disorders, and require skilled and therapeutic assessment. Knowledge of appropriate services for onward referral is essential, and highlight the importance of a close collaborative between adult EDs and CAMHS.

[Maternal biochemical screening -- an approach for genetic prevention. part 1. first and second trimester screening].

UNLABELLED: The aim is to perform our eight-year experience on prenatal (matemal) screening for Down syndrome (DS). METHODS: Pregnant women underwent screening in second trimester (ST2) - 14(+4)-19(+3) gestational week using serum AFP and free beta-hCG biochemical markers. A more sensitive first trimester test has been implemented in 11(+0)-13(+6) gestational weeks since the end of 2009. This combined screening test (CST1) was based on US measurements of NT (nuchal translucency) and NB (nasal bones) supplemented by biochemical markers of serum free beta-hCG and PAPP-A. Uniform methodology, web-based software and system for laboratory quality control had been used. False positive ratios for DS were estimated at cut-offs 1/250 for Down syndrome and 1/100 for Edwards syndrome. RESULTS: The test was performed on 17 468 pregnant women: 13 016 by biochemical screening 2 test (BHS2) and 4452 by first trimester test CST1. High risk for a chromosome disorder by BHS2 test was found in 1097 (8,4%) cases (5,96% < 35 years and 21,13% > 35 years). 7 fetuses were diagnosed with chromosome disease (5 fetuses with trisomy 21,1 - trisomy 18 and 1 - triploid); false positive were 1090 (8,4%). High risk for a chromosome disorder by CST1 test was found in 102 (2,3%) cases. 4 affected fetuses were diagnosed (3 with trisomy 21 and 1 with trisomy 13). Verified diagnosis for DS by first and second trimester tests were 43% (3 out of 7 cases) with 57% false negative results and 45,5% (6 out of 11 cases) with 54,5% false negative results respectively. Description of biochemical values/MoMs and US measurements are applied. CONCLUSIONS: We comment on the importance of US measurements in CST1 test and correct analysis of biochemical and US markers in counseling of every individual patient, beyond final risk number.

[Maternal biochemical screening -- an approach for genetic prevention. part 2. sequential approach with integrated risk assessment].

UNLABELLED: Performance of 2,5 year experience onprenatal (maternal) screening by integrated risk for Down syndrome and Edwards syndrome is presented in pregnant women underwent first (11(+0)-13(+6) g.w) and second trimester screening (14(+4)-19(+3) g.w), assessed by an integrated risk. Since the end of 2010 the most common strategy has been combination of both risks after contingent screening approach (serummarkers and US measurments from first test with indication to second trimester screening if the risk is intermediate or high and CVS diagnosis has been refused). Serummarkers were measured by fluorimetric immunoassay (Delfia) and risks were calculated using LifeCycle 3.2 software. RESULTS: The test was performed on 491 women, less than 4452 and 13 016 women first and second trimester respectively. We found highrisk for a chromosome disorder in 32 (6,5%) cases: 19 (6,35%) women < 35 and 13 (6,7%) women > 35). Diagnosis of a chromosome diseases was found in 4 fetuses out of 32 (12,5%): 3 fetuses with trisomy 21 and 1 with trisomy 18. False positive results were found in 28 out of 491 (5,7%) women. Verified diagnosis on lyfor DS was found in 3 out of 4 cases (75% sensitivity), and false negative results in 25%. Discussion is focused on the comparison of the screening approaches - the sensitivity, limitation sand the step wise sequential testing way with integrated risk of achieving a high performance of screening.

[The experience in genetic laboratory Varna in amniocentesis and genetic analysis for the period 2006-2010].

The aim of this report is to present and discuss the results from diagnostic amniocenteses, performed in Varna. The test started as a part of a prophylaxis program for pregnant women with calculated high risk for chromosomal disorders after a screening test. Amniocentesis was performed in total of 283 pregnant women. Of all patients who underwent the screening test, amniocentesis was performed in 1.55% of women under 36 years of age and 5.0% of women over 36 years. In the selected group with calculated high risk for chromosomal disorder these percentages were 28.5% and 26% respectively. Fetal chromosomal disorder was found in 5% (in 7 out of 141) in women under 36 and 3.82% (in 7 out of 83) in women over 36 years. Genetic tests (DNA and cytogenetic analysis) of amniocytes revealed chromosomal disorders in 16 (5.65%) fetuses (8 with trisomy 21, 3 with trisomy 18, 1 with trisomy 13, 1 case with triploidy, 3 cases with structural chromosomal rearrangement). Three additional amniocenteses were performed, indicated by family history of monogenic disorder (thalassaemia, spinal muscular atrophy). The effect of the introduced method for prenatal diagnosis, its interaction with the screening tests and their future as genetic prophylaxis program are discussed.

[The experience of the genetic laboratory in Varna on maternal serum screening for a six year period].

The aim of the presentation is to report the results of the Genetic laboratory in University hospital "St. Marina" Varna on second (15-19 gw) and first trimester (12-14 gw) maternal serum screening for common chromosome disorders, for the period 2005-2010. The test was performed on 10741 pregnant women from 8 regions of North-Eastern Bulgaria: 9743 women were screened in the second trimester (8251 at the age < 36 and 1492 at the age > 36) and 998 women - in the first trimester (827 at the age < 36 and 171 at the age > 36). The fluorimetric dual method was based on biochemical markers; software calculated risk as function of precise gestational age, maternal weight and age. The most common strategy was to combine the risk as determined from first and second trimester screening test in a sequential manner. High risk for a chromosome disorder (a risk above 1:250) was found by second trimester screening in 784 (8,04%): 488 (5,91%) <36 and 296 (19,83%) >36. The most recent first trimester screen test, which have been involved in the laboratory since April 2010 detected 7 (0,84%) and 23 (13,45%) women respectively to the age groups with increased risk for a chromosome disease. Additional ultrasonographic scan confirmed the biochemical risk for a serious Neural Tube/Abdomainal Wall defects in 5 out of 32 fetuses with increased risk for these defects; other 3 fetuses were detected to be involuntary miscarried as "missed abortion", 1 triploidy included. We comment on the sensitivity, limitations and the stepwise sequential testing way of achieving a high performance of screening for chromosome diseases based on preliminary information to pregnant women on different options for a contemporary approach for genetic prevention.