Hard cover, 328 pagesPublisher InTech
Screening for trisomy 21 in a low-risk population in Slovenia gives comparable results to those in other countries. The only result that varies is the percentage of screen positive patients at the risk limit 1 in 300. We believe the risk limit should be specifically estimated for each country based on its population distribution of maternal age.
Background: Chorionic villus sampling and amniocentesis as definitive diagnostic procedures represent a gold standard for prenatal diagnosis of chromosomal abnormalities. The methods are invasive and lead to a miscarriage and fetal loss in approximately 0.5–1 %. Non-invasive prenatal DNA testing (NIPT) is based on the analysis of cell-free fetal DNA from maternal blood. It represents a highly accurate screening test for detecting the most common fetal chromosomal abnormalities. In our study we present the results of NIPT testing in the Diagnostic Center Strah, Slovenia, over the last 3 years.Methods: In our study, 123 pregnant women from 11th to 18th week of pregnancy were included. All of them had First trimester assessment of risk for trisomy 21, done before NIPT testing.Results: 5 of total 6 high-risk NIPT cases (including 3 cases of Down syndrome and 2 cases of Klinefelter’s syndrome) were confirmed by fetal karyotyping. One case–Edwards syndrome was false positive. Patau syndrome, triple X syndrome or Turner syndrome were not observed in any of the cases. Furthermore, there were no false negative cases reported. In general, NIPT testing had 100 % sensitivity (95 % confidence interval: 46.29 %–100.00 %) and 98.95 % specificity (95 % confidence interval: 93.44 %–99.95 %). In determining Down syndrome alone, specificity (95 % confidence interval: 95.25 %- 100.00 %) and sensitivity (95 % confidence interval: 31.00 %–100.00 %) turned out to be 100 %. In 2015, the average turnaround time for analysis was 8.3 days from the day when the sample was taken. Repeated blood sampling was required in 2 cases (redraw rate = 1.6 %).Conclusions: Our results confirm that NIPT represents a fast, safe and highly accurate advanced screening test for most common chromosomal abnormalities. In current clinical practice, NIPT would significantly decrease the number of unnecessary invasive procedures and the rate of fetal loss caused by invasive diagnostics.
Poster abstracts serum ALP was extremely low (20 U/L, normal range of 70 U/L). Further diagnostic testing was performed which determined that the infant had a heterozygous 1559delT mutation. Based on these findings, we suggest that ALP assay of a chorionic villi sample is strongly recommended in order to obtain more confident diagnosis of this lethal skeletal dysplasia when poorly ossified facial bone detected during the first trimester ultrasound examination. P34.05Prenatal ultrasound detection of primary endocardial fibroelastosis in 12-13 weeks of gestation: a case report T. Liliana, T. Olga Ultrasound Department, Republican Clinical Hospital of Ministry of Health of Tatarstan Republic, Kazan, Russian FederationLeft ventricular endocardial fibroelastosis was diagnosed during routine first trimester ultrasound scanning. There was one embryo in uteri, CRL = 65 mm, NT = 2.2 mm, nasal bone was normal. The big size of fetal heart attracted our attention. The detailed investigation of the heart found a dilatated and hypotonic left ventricle. Color doppler did not detect blood flow in left ventricle. Blood flow in right ventricle, detected by color doppler, was visualized well. The second thing, what we had found, there was hyperechogenic sligtly interrapted line in walls of left ventricle, including septum. Two criteria: dilatated and hypotonic left ventricle without blood flow and hyperechogenic walls of left ventricle gave us the possibility to diagnose fetal endocardial fibroelastosis. The absence of other heart anomalies showed that it was primary fibroelastosis. It is interesting to mark, that there were no signs of hydrops fetalis, fetal anatomy was normal. We think that it is the the earliest appearance of primary fibroelastosis. P34.06Vesical puncturing for the first trimester prune belly syndrome J. Choi, H. Lee, G. Kim Chung-Ang Univ. Medical Center, Seoul, Republic of KoreaThe prune belly syndrome (PBS) is a kind of congenital obstructive uropathy which consists of three distinctive features: abdominal wall distention with deficiency of the abdominal wall musculature, urinary tract abnormalities. We experienced one case of PBS diagnosed and managed at 11+6. Chorionic villi sampling revealed male fetus with normal chromosome. Vesical puncturing by spinal needle was done to drain urine into amniotic space and the aspirated urine was analyzed. One week after the needling, fetal bladder was not swollen again. However spouses opted to terminate the pregnancy after counseling. Pathology confirmed the diagnosis. We missed bilateral cleft lip and palate on prenatal ultrasonography. Although the outcome of fetuses with early obstructive uropathy have been known to be very poor with or without in utero therapy, this puncturing can be proposed as the first line of action not only for the treatment but also for the counseling with the analyzed urine. P34.07 Spontaneus reversal of cystic hygromaS. S. Herbst, L. C. Bussamra, C. L. Drummond, G. Tedesco, I. S. Britto, T. Aoki Obstetrics, Santa Casa Misericordia de São P...
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