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001-es BibID:	BIBFORM068575
Első szerző:	Chaoui, R.
Cím:	Maxillary gap at 11-13 weeks' gestation : marker of cleft lip and palate / Chaoui R., Orosz G., Heling K. S., Sarut-Lopez A., Nicolaides K. H.
Dátum:	2015
ISSN:	0960-7692
Megjegyzések:	ObjectiveTo describe a new sign of cleft lip and palate (CLP), the maxillary gap, which is visible in the mid-sagittal plane of the fetal face used routinely for measurement of nuchal translucency thickness.MethodsThis was a retrospective study of stored images of the mid-sagittal view of the fetal face at 11?13 weeks' gestation in 86 cases of CLP and 86 normal controls. The images were examined to determine if a maxillary gap was present, in which case its size was measured.ResultsIn 37 (43.0%) cases of CLP the defect was isolated and in 49 (57.0%) there were additional fetal defects. In the isolated CLP group, the diagnosis of facial cleft was made in the first trimester in nine (24.3%) cases and in the second trimester in 28 (75.7%). In the group with additional defects, the diagnosis of facial cleft was made in the first trimester in 46 (93.9%) cases and in the second trimester in three (6.1%). A maxillary gap was observed in 96% of cases of CLP with additional defects, in 65% of those with isolated CLP and in 7% of normal fetuses. There was a large gap (>1.5?mm) or complete absence of signals from the maxilla in the midline in 69% of cases of CLP with additional defects, in 35% of those with isolated CLP and in none of the normal controls.ConclusionsThe maxillary gap is a new simple marker of possible CLP, which could increase the detection rate of CLP, especially in isolated cases. Copyright ? 2015 ISUOG. Published by John Wiley & Sons Ltd.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban Maxillary gap
Megjelenés:	Ultrasound In Obstetrics & Gynecology. - 46 : 6 (2015), p. 665-669. -
További szerzők:	Orosz Gergő Balázs (1985-) (szülész-nőgyógyász) Heling, K. S. Sarut-Lopez, A. Nicolaides, Kypros H.
Internet cím:	DOI Intézményi repozitóriumban (DEA) tárolt változat
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001-es BibID:	BIBFORM068576
Első szerző:	Quezada, M. S.
Cím:	Screening for trisomies 21, 18 and 13 by cell-free DNA analysis of maternal blood at 10-11 weeks' gestation and?the combined test at 11-13 weeks / Quezada M. S., Gil M. M., Francisco C., Orosz G., Nicolaides K. H.
Dátum:	2015
ISSN:	0960-7692
Megjegyzések:	ObjectiveTo examine in a general population the performance of cell-free DNA (cfDNA) testing for trisomies 21, 18 and 13 at 10?11 weeks' gestation and compare it to that of the combined test at 11?13 weeks.MethodsIn 2905 singleton pregnancies, prospective screening for trisomies was performed by chromosome-selective sequencing of cfDNA in maternal blood at 10?11 weeks' gestation and by the combined test at 11?13 weeks' gestation.ResultsMedian maternal age of the study population was 36.9 (range, 20.4?51.9) years. Results from cfDNA analysis were provided for 2851 (98.1%) cases and these were available within 14 days from sampling in 2848 (98.0%) cases. The trisomic status of the pregnancies was determined by prenatal or postnatal karyotyping or clinical examination of the neonates. Of the 2785 pregnancies with a cfDNA result and known trisomic status, cfDNA testing correctly identified all 32 cases with trisomy 21, nine of 10 with trisomy 18 and two of five with trisomy 13, with false-positive rates of 0.04%, 0.19% and 0.07%, respectively. In cases with discordant results between cfDNA testing and fetal karyotype, the median fetal fraction was lower than in those with concordant results (6% vs 11%). Using the combined test, the estimated risk for trisomy 21 was???1/100 in all trisomic cases and in 4.4% of the non-trisomic pregnancies.ConclusionThe performance of first-trimester cfDNA testing for trisomies 21 and 18 in the general population is similar to that in high-risk pregnancies. Most false-positive and false-negative results from cfDNA testing could be avoided if the a priori risk from the combined test is taken into account in the interpretation of individual risk. Copyright ? 2014 ISUOG. Published by John Wiley & Sons Ltd.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban Cell free DNA
Megjelenés:	Ultrasound In Obstetrics & Gynecology 45 : 1 (2015), p. 36-41. -
További szerzők:	Gil, M. M. Francisco, C. Orosz Gergő Balázs (1985-) (szülész-nőgyógyász) Nicolaides, Kypros H.
Internet cím:	Szerző által megadott URL DOI Intézményi repozitóriumban (DEA) tárolt változat
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