Mom donates breast milk after son died of rare genetic disorder
Sierra Strangfeld, from Neilsville, Wisconsin, was 20 weeks pregnant when her son was diagnosed with trisomy 18, a chromosomal condition in which most babies survive less than 24 hours. (Source: the Mail online | Health)
Source: the Mail online | Health - November 26, 2019 Category: Consumer Health News Source Type: news
A biventricular repair for Jayce ’s one-of-a-kind heart
Amanda Mattioli was working in Afghanistan as a government contractor and had just completed a whirlwind round of travel to three separate continents when she learned she was pregnant. The helicopter unit that took her back to the main base so she could return home for her pregnancy gave her a unit sticker to commemorate her baby’s first helicopter ride. Little did she know it would also mark the beginning of a much longer journey for her and her son, William “Jayce” James. Amanda got her first hint the ride would be bumpy at her 20-week ultrasound, when she learned Jayce’s heart was on the right side of his chest,...
Source: Thrive, Children's Hospital Boston - August 14, 2017 Category: Pediatrics Authors: Ellen Greenlaw Tags: Diseases & Conditions Our Patients’ Stories atrioventricular canal Biventricular Repair Biventricular Repair Program Dr. Gerald Marx Dr. Pedro del Nido Heterotaxy syndrome Pulmonary atresia transposition of the great arteries Source Type: news
Diagnostics company LabCorp to buy smaller rival Sequenom
(Reuters) – Laboratory Corporation of America Holdings said it would buy Sequenom Inc, a maker of non-invasive prenatal tests for reproductive health, for about $371 million, including debt. The $2.40 per share cash offer, which has a total equity value of $302 million, represents a 182% premium to Sequenom’s Tuesday close. Sequenom’s shares rose 177% to $2.36 in premarket trading on Wednesday. Sequenom offers genetic tests that allow patients to gain insight about their pregnancy and conditions that can affect their baby’s health. The company’s MaterniT test screens for chromosomal abnormalit...
Source: Mass Device - July 27, 2016 Category: Medical Equipment Authors: MassDevice Tags: Business/Financial News Diagnostics Mergers & Acquisitions LabCorp Sequenom Inc. Source Type: news
Mother told she was expecting healthy baby awarded £21k after giving birth to a disabled son
Sara Billany, 34, from Scarborough, was shocked when she gave birth to her son Kyle, who suffered the genetic condition Edwards' syndrome, having been told she was expecting a healthy baby girl. (Source: the Mail online | Health)
Source: the Mail online | Health - July 30, 2015 Category: Consumer Health News Source Type: news
New Down’s syndrome test more accurate than current screening
Conclusion This large study has shown that the new cfDNA test is better than current standard screening at detecting three trisomy conditions during pregnancy. The confidence in accurately identifying affected pregnancies was strongest for Down’s syndrome. There were much wider confidence intervals for the other two conditions. The cfDNA test was not 100% accurate, as there were false positive results for each condition, though much fewer than with standard screening. Around 3% of the cfDNA tests did not produce a result. Careful consideration and further research may be needed to decide the best approach in these cases...
Source: NHS News Feed - April 2, 2015 Category: Consumer Health News Tags: Genetics/stem cells Medical practice Pregnancy/child Source Type: news
Pregnant women likely to be tested earlier for rare genetic abnormalities
Screening Committee recommends blood test and scan for trisomy 18 and 13 in first trimesterRelated items from OnMedicaPregnant women set to continue to receive pertussis vaccination New guidance launched on antenatal careUltrasonography needed to check for ectopic pregnancyNew test could help spot preterm labourNon-invasive blood test can reliably detect fetal abnormalities early on (Source: OnMedica Latest News)
Source: OnMedica Latest News - August 5, 2014 Category: UK Health Source Type: news
Earlier screening for serious abnormalities in pregnancy
The conditions, also known as Trisomy 18 and Trisomy 13, are rare but very serious chromosomal (genetic) abnormalities which affect about two out of every 10,000 births in the UK each year. Most babies affected by these conditions will die before or shortly after birth. More .... (Source: NHS Networks)
Source: NHS Networks - August 5, 2014 Category: UK Health Authors: Maria Axford Source Type: news
Study Finds DNA Screening Better At Identifying Prenatal Genetic Defects
BOSTON (CBS) — It’s the news no expecting mom wants to hear, “there was a chance she was going to be stillborn or wouldn’t live past her first year.” That’s what Jennifer Fontaine’s doctors told her after she underwent genetic screening in the first trimester of her pregnancy. The traditional blood test had turned up a chromosome abnormality in the fetus. Then the Groveland woman had a new test which actually screens DNA. “The DNA results came back perfect. Nothing was wrong with chromosome 18 and she was perfect,” says Jennifer. She gave birth to a healthy baby girl na...
Source: WBZ-TV - Breaking News, Weather and Sports for Boston, Worcester and New Hampshire - February 26, 2014 Category: Consumer Health News Authors: Kckatzman Tags: Health Healthwatch Heard On WBZ NewsRadio 1030 Local Seen On WBZ-TV Syndicated Local Watch Listen CBS Boston Diane Stern Genetic Screenings Paula Ebben Tufts Medical Source Type: news
Improved Pregnancy Test Exposes Birth Defect Much Earlier
An improved pre-natal test has been developed in Europe, which can detect fetal abnormalities such as down syndrome in high-risk pregnancies from the ninth week. PrenaTest® is a non-invasive molecular genetic blood test that can detect fetal trisomies 13 (patau syndrome), 18 (edwards syndrome) and 21 (down syndrome) in the blood. A trisomy refers to the presence of three chromosomes instead of two, which can lead to certain genetic conditions... (Source: Health News from Medical News Today)
Source: Health News from Medical News Today - July 11, 2013 Category: Consumer Health News Tags: Pregnancy / Obstetrics Source Type: news
New Down’s syndrome blood test 'more reliable'
Conclusion The current study suggests that screening for trisomies 13, 18, and 21 using a DNA based maternal blood test may identify similar numbers of affected foetuses to the current screening test. However, the new screening test appears to be better at ruling out the condition in women with normal pregnancies, this means that fewer women would be offered unnecessary invasive diagnostic testing. There are a few important points to note: Not all women in this study had given birth when the study was published, and these babies will need to be assessed to make sure that no cases of trisomy were missed. If this t...
Source: NHS News Feed - June 7, 2013 Category: Consumer Health News Tags: Genetics/stem cells Medical practice Pregnancy/child Source Type: news