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- Marsk, A, et al.
(författare)
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If nuchal translucency screening is combined with first-trimester serum screening the need for fetal karyotyping decreases
- 2006
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Ingår i: Acta Obstetricia et Gynecologica Scandinavica. - : Wiley. - 1600-0412 .- 0001-6349. ; 85:5, s. 534-538
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Tidskriftsartikel (refereegranskat)abstract
- Background. This case-control study was performed to evaluate whether adding first-trimester maternal serum testing to nuchal translucency measurement would improve the antenatal detection of Down's syndrome and decrease the number of women offered fetal karyotyping. Methods. In the Swedish Nuchal Translucency Trial 39,572 pregnant women were randomized to a routine scan at 12-14 gestational weeks including nuchal translucency screening for Down's syndrome, or a routine scan at 16-18 gestational weeks. From the early scan group 47 pregnancies with Down's syndrome were identified and for each case three controls were chosen. Of 189 women asked to participate, 31 cases and 108 controls with a singleton pregnancy and frozen sample from 8-14 gestational weeks available for analysis accepted participation. Maternal sera were analyzed for free beta human chorionic gonadotrophin and pregnancy-associated plasma protein A. The risk for Down's syndrome was calculated using combinations of maternal age, crown-rump length, nuchal translucency, and biochemistry. A risk >= 1/250 was considered increased and an indication for fetal karyotyping. Results. Risk calculated on the basis of maternal age alone would have identified 21 of the 31 Down's syndrome cases by karyotyping 61 of the 139 fetuses. Maternal age and nuchal translucency would have identified 29 cases by karyotyping 51 fetuses. Maternal age, nuchal translucency, and biochemistry would also have identified 29 cases by karyotyping 37 fetuses. Conclusions. By adding first trimester biochemistry to nuchal translucency measurement the detection rate of fetuses with Down's syndrome seems to remain unchanged whereas the antenatal risk group to be offered fetal karyotyping decreases.
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- Saltvedt, S, et al.
(författare)
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Detection of malformations in chromosomally normal fetuses by routine ultrasound at 12 or 18 weeks of gestation - a randomised controlled trial in 39 572 pregnancies
- 2006
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Ingår i: BJOG: An International Journal of Obstetrics & Gynaecology. - : Wiley. - 1471-0528 .- 1470-0328. ; 113:6, s. 664-674
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Tidskriftsartikel (refereegranskat)abstract
- Objective To compare the antenatal detection rate of malformations in chromosomally normal fetuses between a strategy of offering one routine ultrasound examination at 12 gestational weeks (gws) and a strategy of offering one routine examination at 18 gws. Design Randomised controlled trial. Setting Multicentre trial including eight hospitals. Population A total of 39 572 unselected pregnant women. Methods Women were randomised either to one routine ultrasound scan at 12 (12-14) gws including nuchal translucency (NT) measurement or to one routine scan at 18 (15-22) gws. Anomaly screening was performed in both groups following a check-list. A repeat scan was offered in the 12-week scan group if the fetal anatomy could not be adequately seen at 12-14 gws or if NT was >= 3.5 mm in a fetus with normal or unknown chromosomes. Main outcome measures Antenatal detection rate of malformed fetuses. Results The antenatal detection rate of fetuses with a major malformation was 38% (66/176) in the 12-week scan group and 47% (72/152) in the 18-week scan group (P = 0.06). The corresponding figures for detection at < 22 gws were 30% (53/176) and 40% (61/152) (P = 0.07). In the 12-week scan group, 69% of fetuses with a lethal anomaly were detected at a scan at 12-14 gws. Conclusions None of the two strategies for prenatal diagnosis is clearly superior to the other. The 12-week strategy has the advantage that most lethal malformations will be detected at < 15 gws, enabling earlier pregnancy termination. The 18-week strategy seems to be associated with a slightly higher detection rate of major malformations, although the difference was not statistically significant.
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