Downsyndrome.com

CHAPEL HILL, N.C. — First trimester Nuchal Translucency/freeBeta/PAPP-A prenatal screening for Down syndrome has been confirmed by the NIH FASTER Study (NEJM 2005;353:2001) to be more effective than second trimester screening methods. Dr. Joe Leigh Simpson, author of the editorial (NEJM 2005; 353:19) concluded "First- trimester screening is thus clearly superior to screening in the second trimester. The gap would probably widen if the assessment of the nasal bone becomes incorporated in risk estimates". First trimester NT/freeBeta/PAPP-A is provided by GeneCare and was recognized as an option for all pregnant women by the American College of Obstetricians and Gynecologists (ACOG), the American College of Medical Genetics (ACMG) and the NIH in 2004.

The study was performed on 33,546 patients at 10 weeks 3 days - 13 weeks 6 days. Nuchal Translucency (NT) ultrasound measurements were combined with freeBeta hCG and PAPP-A blood proteins tests. In the study first trimester NT/freeBeta/PAPP-A screening detected 86% of Down syndrome pregnancies at a 5% false positive rate. These results confirmed 23 previously published studies of over 230,000 patients. The accepted detection rate for Down syndrome is 91% at 5% false positive rate based on all studies. GeneCare also incorporates Nasal Bone (NB) which raises detection to 95% at 2% false positive rate. First Trimester NT/NB/freeBeta/PAPP-A screening offers the earliest and safest prenatal screening for Down syndrome, trisomy 18/13, 40% of fetal heart defects, many other anomalies and perinatal risk.

The real significance of this consensus is that NT/NB/freeBeta/PAPP-A screening provides the most effective pregnancy management in the first trimester to improve birth defects detection and provide patients with the earliest and safest options. NT/freeBeta/PAPP-A, referred to as Early Screen(R), is available to all pregnant patients throughout the USA and is provided by sonographers and physicians who have Fetal Medicine Foundation special training and certificates for nuchal translucency measurement.

Patients have responded through published surveys that they strongly prefer first trimester screening for privacy and improved healthcare. It is now appropriate to offer NT/NB/freeBeta/PAPP-A prenatal screening to all low risk patients as well as to increased risk patients who decline amniocentesis. Patients should be aware that prenatal screening is not a substitute for diagnostic amniocentesis or CVS testing.

GeneCare provides FMF USA NT and NB training courses to physicians, sonographers and other prenatal healthcare providers through nonprofit courses listed at www.genecare.com. To find an FMF NT and NB certificate provider of Early Screen(R) call GeneCare at (800) 277-4363 or email at info@genecare.com.

COPYRIGHT 2005 Business Wire
COPYRIGHT 2008 Gale, Cengage Learning

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WASHINGTON (AFP) — A new test can detect Down syndrome in fetuses earlier in pregnancy and more accurately than standard methods, according to a study published in a US journal.

Expectant mothers currently have to wait until their second trimester before a blood test can detect the chromosomal abnormality, which occurs in one of every 660 births.

The study, published in the New England Journal of Medicine, found that a new screening method can identify the genetic disorder before the beginning of the second trimester.

Triggered by an extra chromosome 21, Down syndrome causes mental retardation, slow development, particular facial features and an increased risk of health problems.

The new method combines a blood test analyzing protein and hormone levels and an ultrasound measuring the thickness of the skin on the back of the fetus’s neck.

The study compared the …

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M2 PRESSWIRE-10 November 2005-YALE UNIVERSITY: Yale expert in early risk assessment for Down syndrome to comment on FASTER trial(C)1994-2005 M2 COMMUNICATIONS LTD RDATE:10112005 New Haven, Conn. - Joshua Copel, M.D., a Yale School of Medicine expert in first trimester risk assessment for Down syndrome is available to comment on the First and Second Trimester Evaluation of Risk (FASTER) trial, published November 10 in the New England Journal of Medicine.

The national FASTER Trial, led by researchers at Columbia University, evaluated several new screening tests that allow for …

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Byline: University of Colorado Health Sciences Center

DENVER, Nov. 9 (AScribe Newswire) — A new study by researchers for the First- and Second-Trimester Evaluation of Risk (FASTER) Research Consortium has found that the most optimal and accurate time to screen pregnant women for the presence of fetal Down’s syndrome is during the first trimester. The findings of the study will be published as the lead article in the Nov. 10 issue of the New England Journal of Medicine.

Researchers reported that the combination of nuchal translucency, an ultrasound measurement of the area behind …

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WHO:    Down Syndrome Association of Los Angeles (DSALA) with Grand
        Marshall Sylvia Lopez - KCAL News Anchor, National Buddy Walk
        Spokesperson John C. McGinley - star of SCRUBS, and KOST FM
        Radio personality Mark Wallengren of the "Mark and Kim"
        morning show. The event is graciously sponsored by BP West
        Coast Products LLC.

WHAT:   11th Annual Buddy Walk for the Down Syndrome Association of
        Los Angeles.

WHEN:   Sunday, November 13, 2005, 11:00 AM to 3:00 PM
        11:00 AM Check in
        11:30 AM to 3:00 PM Festivities
        12:30 PM Walk followed by Medal Presentation
        11:30 AM to 1:30 PM Lunch is served

WHERE:  Santa Anita Park, Arcadia, CA
        Race Track Infield, enter at Gate 6 off Colorado Place
        (free parking)

Cost:   $15 per individual, family and group rates available
        Includes access to all activities, lunch and t-shirt
        (guaranteed with pre-registration)

Registration Information:

        Call DSALA at 818-242-7871 or go to the website at
        www.dsala.org.

Festivities include:

        Game Booths, Mini Mars Rover, Dance, Art, Rides in the Air
        Force Mini Jets.

Visuals:

        1000 walkers from those in strollers to seniors in teams
        supporting individuals with Down syndrome walking the infield
        at Santa Anita Park Racetrack; mini jet rides, game and art
        centers, dance and acting workshops and a lot of people just
        having a good time.

Additional Information on Down Syndrome

All proceeds go to support individuals with Down syndrome and their families though the development and promotion of education, counseling, employment, advocacy, research and recreational programs and to increase public awareness, understanding and acceptance of Down syndrome.

Down syndrome is the most common genetic condition affecting all ethnicities and approximately 1 in 800 births. Individuals with Down syndrome have an extra copy of the 21st chromosome which causes physical differences and disabilities. Most people with Down syndrome live a rich and productive life thanks to organizations like that DSALA which has been providing services for more then 30 years in the Greater Los Angeles Area.

COPYRIGHT 2005 Business Wire
COPYRIGHT 2008 Gale, Cengage Learning

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A mother who killed her 36-year-old Down syndrome son by suffocating him with a plastic bag was spared jail yesterday when a judge said she had been subject to unbearable pressure.

Wendolyn Markcrow, 67, had been the sole carer of Patrick for the whole of his life and had been a devoted mother, Oxford Crown Court heard.

But the strain became too much as his violent behaviour grew worse, depriving her of sleep and driving her to despair.

On Easter weekend, Patrick’s behaviour deteriorated sharply. He had been hitting himself in the face repeatedly, shouting in his room and had refused to go to sleep. Late on Easter Monday, Markcrow gave him 14 sleeping tablets and when he did not die, she smothered him with a supermarket plastic bag at the family home in Long Creedon, Buckinghamshire.

‘As she suffocated him, she was still begging him to be quiet. When he became quiet it dawned on Mrs Markcrow what she had done and she decided to end her own life,’ said Sasha Wass QC, for the defence.

Markcrow then took some sleeping tablets herself, went into the garden and tried to cut her throat with a kitchen knife. Later she told police: ‘I just snapped, I went crazy, I did not know what I was doing.’

Markcrow denied murdering her son but pleaded guilty, at a hearing in September, to his manslaughter on the grounds of diminished responsibility.

Yesterday Mr Justice Gross told her that ordinarily an immediate custodial sentence would be appropriate. But she had been at the end of her tether and the ‘merciful course’ was to suspend the two-year sentence for 18 months.

The judge said: ‘You cared for him for over 30 years in a manner that attracted admiration and respect from professionals and family. You were the sole carer day and night.

‘Mr [Jonathan] Browne [for the prosecution] said that this case was highly unusual, profoundly sad and characterised as a real tragedy ” with all that, I agree.’

The court heard how, following her arrest, two psychiatrists agreed Markcrow had been suffering from depression, which had gone untreated, for years.

The judge noted that she had made numerous attempts to gain assistance but, for what ever reason, help had not been forthcoming. Patrick had flourished in early life, attending school and college in Aylesbury. But in his twenties he had developed autistic features and become violent.

He began to hit himself in the face violently and persistently, and in July 2003 hit himself so hard that he blinded himself in the right eye. He would also hit his parents around the head and, since he weighed 16 stone, they had trouble controlling him. He suffered chronic insomnia, only sleeping for two to three hours a night, waking his parents by screaming and shouting.

Both Markcrow and her GP had repeatedly written to the local authority asking for help. After one meeting with Patrick and his mother, in which he punched himself 20 times in the face, the doctor said: ‘I have no idea how his mother can cope.’

In May 2004, a member of Buckinghamshire County Council’s disability team sent an internal e-mail which read: ‘I am worried about how she is managing, especially considering the lack of help she is receiving. This is urgent.’

Speaking outside court, Trevor Boyd, of Buckinghamshire County Council, insisted that help had been offered but Markcrow had always been adamant her son should remain at the family home.

Copyright 2005 Independent Newspapers UK Limited
Provided by ProQuest Information and Learning Company. All rights Reserved.

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STOCKHOLM — Tesaglitazar markedly reduces the prevalence of both metabolic syndrome and impaired fasting glucose in hypertriglyceridemic, insulin-resistant nondiabetic patients, Steen Stender, M.D., reported at the annual congress of the European Society of Cardiology.

Tesaglitazar (Galida) is a novel oral dual [alpha] and [gamma] peroxisome proliferator-activated receptor (PPAR) agonist, explained Dr. Stender of Gentofte University Hospital, Hellerup, Denmark.

Both animal and clinical studies have demonstrated that the investigational drug simultaneously improves both lipid …

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