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Advanced Search Results For "DIAGNOSIS of Down syndrome"

1 - 10 of 11,328 results for
 "DIAGNOSIS of Down syndrome"
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[Analysis of the factors influencing positive predictive value of noninvasive prenatal testing for chromosome aneuploidies].

Publication Type:Academic Journal

Source(s):Zhonghua yi xue za zhi [Zhonghua Yi Xue Za Zhi] 2022 Aug 23; Vol. 102 (31), pp. 2452-2457.

Abstract:Objective: To investigate the influence of Z -score and different risk factors on positive predictive value (PPV) of noninvasive prenatal testing (NIPT) for chromosome aneuploidies. Methods: A total of 81 838 NIPT samples from January 1, 2016 to May 31...

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Cell-free DNA screening for trisomies 21, 18, and 13 in pregnancies at low and high risk for aneuploidy with genetic confirmation.

Publication Type:Academic Journal

Source(s):American journal of obstetrics and gynecology [Am J Obstet Gynecol] 2022 Aug; Vol. 227 (2), pp. 259.e1-259.e14. Date of Electronic Publication: 2022 Jan 25.

Abstract:Background: Cell-free DNA noninvasive prenatal screening for trisomies 21, 18, and 13 has been rapidly adopted into clinical practice. However, previous studies are limited by a lack of follow-up genetic testing to confirm the outcomes and accurately a...

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The performance of grey zone in common foetal aneuploidy screening by semiconductor sequencing.

Publication Type:Academic Journal

Source(s):Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology [J Obstet Gynaecol] 2022 Aug; Vol. 42 (6), pp. 1782-1787. Date of Electronic Publication: 2022 Apr 23.

Abstract:A total of 15,267 pregnancies were tested by NIPT in this study. Grey zone (z score: 2.58 ∼ 4 and -4∼-2.58) was set for screening out aneuploidy 21, 18 and 13. Cases with z score located in the grey zone were retested starting from DNA extraction. The ...

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Diagnostic value of maternal alpha-fetoprotein variants in second-trimester biochemical screening for trisomy 21 and 18.

Publication Type:Academic Journal

Source(s):Scientific reports [Sci Rep] 2022 Aug 10; Vol. 12 (1), pp. 13605. Date of Electronic Publication: 2022 Aug 10.

Abstract:To evaluate the clinical predictive value of serum alpha-fetoprotein variants (AFP-L2, AFP-L3) in combination with maternal serum prenatal screening biomarkers in predicting fetal trisomy 21 and trisomy 18. We analyze the data of singleton pregnant wom...

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[Early warning of low maternal unconjugated estriol level by prenatal screening for fetus with X-linked ichthyosis].

Publication Type:Academic Journal

Source(s):Zhonghua fu chan ke za zhi [Zhonghua Fu Chan Ke Za Zhi] 2022 Jun 25; Vol. 57 (6), pp. 407-412.

Abstract:Objective: To analyze the characteristic of prenatal serological screening in fetus with X-linked ichthyosis (XLI), and to explore the relationship between unconjugated estriol (uE 3 ) levels and XLI. Methods: A total of 56 fetuses with Xp22.31 microde...

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Controversies in implementing non-invasive prenatal testing in a public antenatal care program.

Publication Type:Academic Journal

Source(s):Acta obstetricia et gynecologica Scandinavica [Acta Obstet Gynecol Scand] 2022 Jun; Vol. 101 (6), pp. 577-580. Date of Electronic Publication: 2022 Mar 24.

Abstract:Women's autonomy and an inclusive society for all individuals are highly valued in Norway. The Norwegian Biotechnology Act changed in 2020 allowing first-trimester screening and cell-free DNA for common trisomies to all pregnant women. However, impleme...

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Clinical value of fetal facial profile markers during the first trimester.

Publication Type:Academic Journal

Source(s):BMC pregnancy and childbirth [BMC Pregnancy Childbirth] 2022 Oct 02; Vol. 22 (1), pp. 738. Date of Electronic Publication: 2022 Oct 02.

Abstract:Objectives: To study the correlations between facial profile markers and crown-lump length (CRL) in a Chinese population, and to evaluate the clinical value of these markers for abnormal fetuses during the first trimester (11 to 13 +6 gestational weeks...

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Implementation of non-invasive prenatal testing within a national UK antenatal screening programme: Impact on women's choices.

Publication Type:Academic Journal

Source(s):Prenatal diagnosis [Prenat Diagn] 2022 May; Vol. 42 (5), pp. 549-556. Date of Electronic Publication: 2022 Mar 24.

Abstract:Objective: To evaluate the implementation of non-invasive prenatal testing (NIPT) on pregnant women's choices in a national NHS antenatal screening programme for Down's syndrome, Edwards' syndrome and Patau's syndrome.Method: An observational study of ...

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Changes in the number of babies born with Down syndrome in Japan.

Publication Type:Academic Journal

Source(s):The journal of obstetrics and gynaecology research [J Obstet Gynaecol Res] 2022 Sep; Vol. 48 (9), pp. 2385-2391. Date of Electronic Publication: 2022 Jun 28.

Abstract:Aim: The number of babies born with Down syndrome has changed in recent years because of widespread availability of prenatal screening and advanced maternal age at delivery. In Japan, which has no public institutions that record data on babies born wit...

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Immune screening in children with Down Syndrome.

Publication Type:Editorial & Opinion

Source(s):Acta paediatrica (Oslo, Norway : 1992) [Acta Paediatr] 2022 Oct; Vol. 111 (10), pp. 2025-2028. Date of Electronic Publication: 2022 Jul 24.

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