Pregnancy outcome of autosomal aneuploidies other than common trisomies detected by noninvasive prenatal testing in routine clinical practice
نویسندگان
چکیده
منابع مشابه
Noninvasive prenatal diagnosis of common aneuploidies by semiconductor sequencing.
Massively parallel sequencing (MPS) of cell-free fetal DNA from maternal plasma has revolutionized our ability to perform noninvasive prenatal diagnosis. This approach avoids the risk of fetal loss associated with more invasive diagnostic procedures. The present study developed an effective method for noninvasive prenatal diagnosis of common chromosomal aneuploidies using a benchtop semiconduct...
متن کاملClinical outcome of subchromosomal events detected by whole‐genome noninvasive prenatal testing
OBJECTIVE A novel algorithm to identify fetal microdeletion events in maternal plasma has been developed and used in clinical laboratory-based noninvasive prenatal testing. We used this approach to identify the subchromosomal events 5pdel, 22q11del, 15qdel, 1p36del, 4pdel, 11qdel, and 8qdel in routine testing. We describe the clinical outcomes of those samples identified with these subchromosom...
متن کاملNoninvasive prenatal testing of aneuploidies: where are we now?
Prenatal diagnosis of chromosomal aneuploidies is the most frequent prenatal test offered to pregnant women. In most cases, they are recommended in the following circumstances: maternal age of 35 years or above; positive firstor second-trimester screening test results, and increased risk of fetal aneuploidies due to family history. During the first trimester, screening tests include: nuchal tra...
متن کاملNoninvasive prenatal testing in routine clinical practice for a high-risk population
This study aimed to summarize the effects of noninvasive prenatal testing (NIPT) on aneuploidy among high-risk participants in Tangshan Maternal and Children Health Hospital.NIPT or invasive prenatal diagnosis was recommended to patients with a high risk of fetal aneuploidy from February 2013 to February 2014. Patients who exhibited eligibility and applied for NIPT from January 2012 to January ...
متن کاملFollow‐up of multiple aneuploidies and single monosomies detected by noninvasive prenatal testing: implications for management and counseling
OBJECTIVES To determine the underlying biological basis for noninvasive prenatal testing (NIPT) results of multiple aneuploidies or autosomal monosomies. METHODS Retrospective analysis of 113,415 tests to determine the study cohort, consisting of 138 (0.12%) cases reported as a single autosomal monosomy (n = 65), single trisomy with a sex chromosome aneuploidy (n = 36), or with multiple aneup...
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ژورنال
عنوان ژورنال: Prenatal Diagnosis
سال: 2018
ISSN: 0197-3851
DOI: 10.1002/pd.5340