منابع مشابه
Chromosomal microarray versus karyotyping for prenatal diagnosis.
BACKGROUND Chromosomal microarray analysis has emerged as a primary diagnostic tool for the evaluation of developmental delay and structural malformations in children. We aimed to evaluate the accuracy, efficacy, and incremental yield of chromosomal microarray analysis as compared with karyotyping for routine prenatal diagnosis. METHODS Samples from women undergoing prenatal diagnosis at 29 c...
متن کاملNoninvasive Prenatal Molecular Karyotyping from Maternal Plasma
Fetal DNA is present in the plasma of pregnant women. Massively parallel sequencing of maternal plasma DNA has been used to detect fetal trisomies 21, 18, 13 and selected sex chromosomal aneuploidies noninvasively. Case reports describing the detection of fetal microdeletions from maternal plasma using massively parallel sequencing have been reported. However, these previous reports were either...
متن کاملCanadian Guidelines for Prenatal Diagnosis - Genetic indications for prenatal diagnosis
Objective: To provide family practitioners, obstetricians, and geneticists with guidelines and recommendations for prenatal diagnosis. Options: These guidelines apply to non-invasive screening techniques (including maternal serum screening and ultrasound) and to invasive techniques (including amniocentesis and chorionic villus sampling). Outcomes: Improved prenatal diagnosis of congenital abnor...
متن کاملPrenatal screening for thrombophilias: indications and controversies.
A thrombophilia is defined as a disorder of hemostasis that predisposes a person to a thrombotic event. Data suggest that at least 50% of cases of venous thromboembolism in pregnant women are associated with an inherited or acquired thrombophilia, which can lead to an increased risk of maternal thromboembolism and adverse pregnancy outcomes such as recurrent pregnancy loss, intrauterine fetal d...
متن کاملPrenatal fetal karyotyping and maternal serum alpha-fetoprotein screening.
Prenatal karyotyping was undertaken in 569 consecutive amniotic fluid samples where the indication for amniocentesis was two sequential raised maternal serum alpha-fetoprotein concentrations. In 475 successful cultures five chromosome abnormalities were found--four constitutional anomalies (47,XXY; 47,XYY; an inherited inv(8) (p23q11); and a de-novo translocation t(6;7) (p11;p22) and a culture-...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Gulustan-Black Sea Scientific Journal of Academic Research
سال: 2019
ISSN: 2346-7541,1987-6521
DOI: 10.36962/gbssjar99