Karyotyping or rapid aneuploidy detection in prenatal diagnosis? The different views of users and providers of prenatal care
This study investigates what kind of prenatal test pregnant women and caregivers prefer and if differences between the groups exist, using self-report questionnaires. Women preferred either karyotyping (50%) or rapid aneuploidy detection (43%). Caregivers opted for the latter (78%). A test targeted on Down syndrome was the least preferred in both groups. We recommend the use of individualised choice for genetic test in prenatal diagnosis, overcoming the existing differences in preferences between women and caregivers. (Source: BJOG: An International Journal of Obstetrics and Gynaecology)...
POSTED 06/28/2009 at 06:00 PM --
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The ability of the quadruple test to predict adverse perinatal outcomes in a high-risk obstetric population
Conclusions
The quad screen shows value in predicting risk of APO in high-risk patients. (Source: Journal of Medical Screening)...
POSTED 06/28/2009 at 06:00 PM --
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Columnist Counts Her Blessings
Beverly Beckham, a columnist for the Boston Globe and grandmother to 6 year old Lucy who has Down syndrome, has written a heartwarming piece on her families adjustment to Lucy's... (Source: About.com Down Syndrome)...
POSTED 06/26/2009 at 06:00 PM --
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Quality of nuchal translucency measurements in The Netherlands: a quantitative analysis
The Dutch Centre for Population Research has specified quality demands for nuchal translucency (NT) measurement in The Netherlands. We performed an analysis of the quality of NT measurement in 2005-2006 and its influence on screening performance.This was a retrospective study of records of NT measurements (n = 27 738) obtained between January 2005 and December 2006 retrieved from the Dutch National Institute for Public Health and the Environment (RIVM). The performance of each individual operator was analyzed with regard to the quality standards, which involved calculation of operator-specific median NT-multiples of the median (MoM) values. For the entire population of operators, a curve was determined describing the relationship between crown-rump length and NT. Detection rates (DR) and f......
POSTED 06/25/2009 at 06:00 PM --
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Angiogenesis: How Down's syndrome protects
Nature Reviews Cancer 9, 456 (2009). doi:10.1038/nrc2687
Author: Mhairi Skinner
Sandra Ryeom, George Daley and colleagues have identified a genetic explanation for the reduced risk of developing solid tumours that is evident in individuals with Down's syndrome. Having an extra copy of Down's syndrome candidate region 1 (DSCR1), a gene on chromosome 21 (Source: Nature Reviews Cancer)...
POSTED 06/25/2009 at 02:25 AM --
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Golfer with Down Syndrome and a Big Heart
Brad Hennefer, a 20-year-old man with Down syndrome, travels around the country helping young children with Down syndrome get inspired to start golfing. As part of the Brad Hennefer Golf... (Source: About.com Down Syndrome)...
POSTED 06/24/2009 at 06:00 PM --
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Abstractions
Nature 459, 1032 (2009). doi:10.1038/72501032b
Last authorPeople with Down's syndrome, a disorder caused by having an extra copy of all or part of chromosome 21, tend to have lower-than-average cognitive ability and several characteristic physical features, as well as a shorter lifespan. But, much to the puzzlement of scientists, (Source: Nature)...
POSTED 06/23/2009 at 06:00 PM --
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Commentary: The federal 'Prenatally and Postnatally Diagnosed Conditions Awareness Act'
The recently enacted federal law, the 'Prenatally and Postnatally Diagnosed Conditions Awareness Act' (United States Public Law 110-374) seeks to improve opportunities for parents and pregnant women to anticipate and understand the likely life course of children born with Down syndrome and other (unspecified) conditions. The law is in part a response to the continued growth of prenatal screening and testing. For example, the American College of Obstetricians and Gynecologists' Practice Bulletin 77 recommends that 'Screening and invasive diagnostic testing for aneuploidies be available to all women who present for prenatal care before 20 weeks of gestation regardless of maternal age.' Emerging technologies anticipate an era in which the scope of prenatal screening and testing will be much l......
POSTED 06/21/2009 at 06:00 PM --
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One Dad's Wish - I Hope You Dance
Paul Daugherty - a sportswriter for the Cincinnati Tribune - has penned a moving tribute to his daughter, Jillian Daughtery, who has Down syndrome.
At her birth, Paul and his... (Source: About.com Down Syndrome)...
POSTED 06/19/2009 at 02:51 PM --
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VIP Round-Up - Graduates
It's that time of year again - graduation day has arrived!
This weeks VIPs are all graduates who happen to have Down syndrome.
While we tend to focus on the graduate, graduation... (Source: About.com Down Syndrome)...
POSTED 06/19/2009 at 02:38 PM --
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D.A.D.S. - Dads Appreciating Down Syndrome
In honor of Father's day, I am highlighting a unique group of fathers and their organization.
D.A.D.S. - Dads Appreciating Down Syndrome is a national action group with 30 chapters located... (Source: About.com Down Syndrome)...
POSTED 06/18/2009 at 06:00 PM --
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ADAM12s as a first-trimester screening marker of trisomy
To evaluate the potential of maternal serum A Disintegrin And Metalloprotease 12-S (ADAM12s) as an additional marker for the combined test in the Dutch first-trimester national Down syndrome (DS) screening program.Serum samples were collected between 2004 and 2007 as part of the national program. A total of 218 singleton cases of trisomy 21 (DS), 62 trisomy 18 (Edwards syndrome) and 29 trisomy 13 (Patau syndrome) were identified. All cases were matched with controls for gestation, maternal weight and maternal age. The serum concentration of ADAM12s was determined 'blind' to outcome and expressed in multiples of the gestation-specific median for controls (MoM).The median ADAM12s was 1.00 MoM in controls and in the DS cases at 8, 9, 10, 11, 12, 13 weeks it was 0.45 (n = 3), 0.73 (22), 0.74 (......
POSTED 06/17/2009 at 06:00 PM --
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'What's the Next Stage?' Mothers of Young Adults with Down Syndrome Explore the Path to Independence: A Qualitative Investigation
Conclusions These findings are not consistent with findings of previous research, which suggested that mothers in this situation are personally and socially inclined to limit the transition of their offspring to an independent adulthood. The discussion explores the possible reasons for this change and proposes clarification to existing theoretical frameworks for understanding mothers' perspectives. Limitations of the research and future recommendations are discussed. (Source: Journal of Applied Research in Intellectual Disabilities)...
POSTED 06/16/2009 at 06:00 PM --
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JAMA Article Tackles Ethical Concerns About Non-Invasive Prenatal Screening
I was very happy to see that the Journal of the American Medical Association published an article highlighting the myriad of ethical concerns raised by the specter of noninvasive prenatal... (Source: About.com Down Syndrome)...
POSTED 06/15/2009 at 12:00 AM --
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Medical Myths - Why We Believe What We Believe
Although it is slightly off topic, I found this article in Newsweek very interesting. I am always amazed at the die-hard nature of medical myths. People tend to cling to... (Source: About.com Down Syndrome)...
POSTED 06/14/2009 at 04:18 PM --
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Molecular genetic analysis of Down syndrome
Abstract Down syndrome (DS) is caused by trisomy of all or part of human chromosome 21 (HSA21) and is the most common genetic cause
of significant intellectual disability. In addition to intellectual disability, many other health problems, such as congenital
heart disease, Alzheimer’s disease, leukemia, hypotonia, motor disorders, and various physical anomalies occur at an elevated
frequency in people with DS. On the other hand, people with DS seem to be at a decreased risk of certain cancers and perhaps
of atherosclerosis. There is wide variability in the phenotypes associated with DS. Although ultimately the phenotypes of
DS must be due to trisomy of HSA21, the genetic mechanisms by which the phenotypes arise are not understood. The recent recognition
that there are ma......
POSTED 06/13/2009 at 03:38 AM --
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Sleep in individuals with Cri du Chat syndrome: a comparative study
Conclusions It is concluded that individuals with CDC do not have an increased probability of sleep problems as compared with other individuals who share similar demographic characteristics. Hypotheses about causes of night waking problems in CDC are generated and suggestions for future research of sleep in individuals with CDC are given. (Source: Journal of Intellectual Disability Research)...
POSTED 06/09/2009 at 11:00 PM --
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GSK3β in Ethanol Neurotoxicity
Abstract Alcohol consumption during pregnancy is a significant public health problem and may result in a wide range of adverse outcomes
for the child. The developing central nervous system (CNS) is particularly susceptible to ethanol toxicity. Children with
fetal alcohol spectrum disorders (FASD) have a variety of cognitive, behavioral, and neurological impairments. FASD currently
represents the leading cause of mental retardation in North America ahead of Down syndrome and cerebral palsy. Ethanol exposure
during development causes multiple abnormalities in the brain such as permanent loss of neurons, ectopic neurons, and alterations
in synaptogenesis and myelinogenesis. These alcohol-induced structural alterations in the developing brain underlie many of
the behavioral de......
POSTED 06/09/2009 at 10:43 AM --
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Plasma [beta]-amyloid and duration of Alzheimer's disease in adults with Down syndrome
To investigate the relation of plasma levels of A[beta] peptides (A[beta]1-40 and A[beta]1-42) and apolipoprotein E (APOE) genotype to dementia status, and the duration of Alzheimer's disease (AD) in adults with Down syndrome (DS).Adults with DS were recruited from community settings and followed up for a mean period of 6.7 years. Plasma levels A[beta]1-40 and A[beta]1-42 and APOE genotype were determined at the last visit.There were 83 nondemented participants and 44 participants with prevalent AD. Overall, plasma levels of A[beta]1-42, A[beta]1-40 and the ratio A[beta]1-42/A[beta]1-40 did not differ significantly between the adults with DS. Among demented participants, the mean level of A[beta]1-40 was significantly lower (157.0 vs. 195.3) and the ratio of A[beta]1-42/A[beta]1-40 was sig......
POSTED 06/08/2009 at 11:00 PM --
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[Medical_Sciences] Functional genomic analysis of amniotic fluid cell-free mRNA suggests that oxidative stress is significant in Down syndrome fetuses
To characterize the differences between second trimester Down syndrome (DS) and euploid fetuses, we used Affymetrix microarrays to compare gene... (Source: Proceedings of the National Academy of Sciences)...
POSTED 06/08/2009 at 11:00 PM --
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