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Advanced Search Results For "DOWN syndrome"

1 - 10 of 52,373 results for
 "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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An improved deep convolutional neural network architecture for chromosome abnormality detection using hybrid optimization model.

Publication Type:Academic Journal

Source(s):Microscopy research and technique [Microsc Res Tech] 2022 Sep; Vol. 85 (9), pp. 3115-3129. Date of Electronic Publication: 2022 Jun 16.

Abstract:Chromosomes are thread-like structures located in the cell nucleus that contains the human body blueprint. Chromosome analysis is also known as karyotyping is the test taken to detect the abnormalities identified in the human chromosome. The two types ...

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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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Karyotype patterns, clinical features, and parental ages of three predominant live born autosomal trisomies of Northeast Malaysia.

Publication Type:Academic Journal

Source(s):The Malaysian journal of pathology [Malays J Pathol] 2022 Aug; Vol. 44 (2), pp. 235-244.

Abstract:Chromosomal abnormality is one of the causes of congenital disorders among newborns. Despite aneuploidy being the major cause of first trimester miscarriages, very few aneuploidies such as trisomies of chromosomes 13, 18 and 21 survive to birth. The re...

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Attitudes of Argentinean Neonatologists toward Resuscitation of Infants with Trisomies 21, 18, and 13: A Multicenter Survey.

Publication Type:Academic Journal

Source(s):American journal of perinatology [Am J Perinatol] 2022 Aug; Vol. 39 (11), pp. 1248-1253. Date of Electronic Publication: 2021 Jan 17.

Abstract:Objective: This study was aimed to explore the attitude of Argentinean neonatologists in the delivery room on resuscitating infants with trisomies.Study Design: An anonymous questionnaire was completed by neonatologists staffing level-III neonatal inte...

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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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Morbidity and mortality following noncardiac surgical procedures among children with autosomal trisomy.

Publication Type:Academic Journal

Source(s):Paediatric anaesthesia [Paediatr Anaesth] 2022 May; Vol. 32 (5), pp. 631-636. Date of Electronic Publication: 2022 Feb 22.

Abstract:Background: Trisomy 13 (T13), trisomy 18 (T18), and trisomy 21 (T21) are the most common autosomal trisomies. One unifying feature of all trisomies is their association with major congenital malformations, which often require life-prolonging surgical p...

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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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