EMB-003 Approach for microdeletion screening in congenital heart defects
نویسندگان
چکیده
منابع مشابه
Pulse oximetry screening for critical congenital heart defects.
BACKGROUND Health outcomes are improved when newborn babies with critical congenital heart defects (CCHDs) are detected before acute cardiovascular collapse. The main screening tests used to identify these babies include prenatal ultrasonography and postnatal clinical examination; however, even though both of these methods are available, a significant proportion of babies are still missed. Rout...
متن کاملLessons Learned From Newborn Screening for Critical Congenital Heart Defects.
Newborn screening for critical congenital heart defects (CCHD) was added to the US Recommended Uniform Screening Panel in 2011. Within 4 years, 46 states and the District of Columbia had adopted it into their newborn screening program, leading to CCHD screening being nearly universal in the United States. This rapid adoption occurred while there were still questions about the effectiveness of t...
متن کاملCONGENITAL HEART DISEASE Improving the effectiveness of routine prenatal screening for major congenital heart defects
Objective: To evaluate the effectiveness of adding outlet views to the four chamber view in routine prenatal ultrasound screening for major congenital heart defects (CHD) as performed by trained sonographers, and to compare the procedure with current practice. Design and setting: Prospective observational study at a London teaching hospital. Participants and methods: 9277 women booked at a sing...
متن کاملFrequency of 22q11.2 microdeletion in children with congenital heart defects in western poland
BACKGROUND The 22q11.2 microdeletion syndrome (22q11.2 deletion syndrome -22q11.2DS) refers to congenital abnormalities, including primarily heart defects and facial dysmorphy, thymic hypoplasia, cleft palate and hypocalcaemia. Microdeletion within chromosomal region 22q11.2 constitutes the molecular basis of this syndrome. The 22q11.2 microdeletion syndrome occurs in 1/4000 births. The aim of ...
متن کاملDetection of chromosomal abnormalities and the 22q11 microdeletion in fetuses with congenital heart defects.
Chromosomal abnormalities and the 22q11 microdeletion are implicated in congenital heart defects (CHDs). This study was designed to detect these abnormalities in fetuses and determine the effect of genetic factors on CHD etiology. Between January 2010 and December 2011, 113 fetuses with CHD treated at the Beijing Obstetrics and Gynecology Hospital were investigated, using chromosome karyotyping...
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ژورنال
عنوان ژورنال: Reproductive BioMedicine Online
سال: 2008
ISSN: 1472-6483
DOI: 10.1016/s1472-6483(10)61554-4