168 Non invasive prenatal testing and ultrasound fetal sex discrepancy: what are we missing?
نویسندگان
چکیده
منابع مشابه
Invasive Prenatal (Fetal) Diagnostic Testing
Single-Gene Disorders Invasive diagnostic prenatal (fetal) testing for molecular analysis for single-gene disorders may be considered medically necessary when a pregnancy has been identified as being at high risk: 1. For autosomal dominant conditions, at least 1 of the parents has a known pathogenic mutation. 2. For autosomal recessive conditions: a. Both parents are suspected to be carriers or...
متن کاملNon-invasive prenatal testing.
BACKGROUND Non-invasive prenatal testing (NIPT), also known as cell-free DNA testing and non-invasive prenatal screening (NIPS), is an important addition to the range of screening tests for fetal chromosomal abnormalities. For trisomy 21 in particular, NIPT is superior to other screening modalities. However, NIPT has limitations and complexities that requesting clinicians and their patients sho...
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SNR separates meaningful information (signal) from background information (noise). In statistical applications of SNR, signal is equivalent to a random variable expectation, and noise is equivalent to its variance. Here, cell-free DNA material (containing both maternal and fetal DNA) from pregnant plasma is tested for detection of genomic events in fetal DNA. The fractional fetal DNA in a sampl...
متن کاملAn Optimized Method for Accurate Fetal Sex Prediction and Sex Chromosome Aneuploidy Detection in Non-Invasive Prenatal Testing
Massively parallel sequencing (MPS) combined with bioinformatic analysis has been widely applied to detect fetal chromosomal aneuploidies such as trisomy 21, 18, 13 and sex chromosome aneuploidies (SCAs) by sequencing cell-free fetal DNA (cffDNA) from maternal plasma, so-called non-invasive prenatal testing (NIPT). However, many technical challenges, such as dependency on correct fetal sex pred...
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Invasive aspergillosis (IA) are a major complication in immunocompromized patients where can be serious and rapidly fatal. Early diagnosis and early appropriate antifungal treatment is important in reducing mortality and morbidity. But despite many efforts to develop detection methods, the diagnosis of IA still remains challenging and current conventional methods are limited for adequate diagno...
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ژورنال
عنوان ژورنال: American Journal of Obstetrics and Gynecology
سال: 2021
ISSN: 0002-9378
DOI: 10.1016/j.ajog.2020.12.190