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Promises, pitfalls and practicalities of prenatal whole exome sequencing
- S. Best, K. Wou, N. Vora, Ignatia B. Van der Veyver, R. Wapner, L. Chitty
- Prenatal diagnosis
- 1 January 2018
Prenatal genetic diagnosis provides information for pregnancy and perinatal decision‐making and management. In several small series, prenatal whole exome sequencing (WES) approaches have identified… Expand
Noninvasive Prenatal Testing and Incidental Detection of Occult Maternal Malignancies
Noninvasive prenatal testing (NIPT) or cell-free DNA (cfDNA) screening can be used to screen for common fetal autosomal aneuploidies. However, NIPT is not a diagnostic test, as cfDNA in the plasma of… Expand
Discordant noninvasive prenatal testing results in a patient subsequently diagnosed with metastatic disease
University of North Carolina at Chapel Hill School of Medicine, Department of Obstetrics and Gynecology, Division of Maternal Fetal Medicine, Chapel Hill, NC 27599, USA Verinata Health, Inc.,… Expand
Noninvasive Prenatal Testing and Incidental Detection of Occult Maternal Malignancies.
IMPORTANCE Understanding the relationship between aneuploidy detection on noninvasive prenatal testing (NIPT) and occult maternal malignancies may explain results that are discordant with the fetal… Expand
Prenatal Diagnosis: Screening and Diagnostic Tools.
The American Congress of Obstetricians and Gynecologists recommends that all pregnant women be offered aneuploidy screening or diagnostic testing. A myriad of screening and testing options are… Expand
Next-generation sequencing and prenatal 'omics: advanced diagnostics and new insights into human development
Prenatal genetics has evolved over the last decade to include application of new 'omics technologies to improve perinatal care. The clinical utility of these technologies when applied to direct fetal… Expand
Prenatal Exome Sequencing in Anomalous Fetuses: New Opportunities and Challenges
PurposeWe investigated the diagnostic and clinical performance of exome sequencing in fetuses with sonographic abnormalities with normal karyotype and microarray and, in some cases, normal… Expand
Reproductive issues for adults with autosomal dominant polycystic kidney disease.
Autosomal dominant polycystic kidney disease (ADPKD) is a common disorder. However, the consequences of ADPKD on male and female reproductive health are not widely known. Several abnormalities are… Expand
A single center’s experience with noninvasive prenatal testing
Purpose:Massively parallel sequencing to detect fetal aneuploidy has high sensitivity and specificity for the detection of trisomies 21, 18, and 13 in high-risk populations. The purpose of our study… Expand
Noninvasive prenatal testing for microdeletion syndromes and expanded trisomies: proceed with caution.
The identification of circulating cell-free fetal DNA in maternal plasma has led to the introduction of noninvasive prenatal tests with high sensitivity and high specificity for common aneuploidies… Expand