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Dissertations & Theses (Open Access)

NIPT

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Non-Invasive Prenatal Screening (Nips) Testing Motivations And Informed Decision Making In The Low-Risk Population, Jenna Lea May 2022

Non-Invasive Prenatal Screening (Nips) Testing Motivations And Informed Decision Making In The Low-Risk Population, Jenna Lea

Dissertations & Theses (Open Access)

Non-Invasive Prenatal Screening (NIPS) provides a risk assessment for aneuploidies by utilizing cell-free DNA (cfDNA). Recently, it was recommended that NIPS be offered to all pregnant people regardless of a priori risk for aneuploidy. In the absence of an increased risk, alternative motives for electing NIPS, such as for fetal sex disclosure, may arise and result in a less informed decision about proceeding with NIPS. Therefore, our study aimed to characterize low-risk patients’ motivations for NIPS election, compare motivations between informed and uninformed decision makers, and determine whether electing NIPS for fetal sex disclosure had any bearing on informed decision …


Patient Perception Of Negative Non-Invasive Prenatal Testing Results, Ann Theresa Wittman May 2016

Patient Perception Of Negative Non-Invasive Prenatal Testing Results, Ann Theresa Wittman

Dissertations & Theses (Open Access)

Non-invasive prenatal testing (NIPT) uses cell-free fetal DNA to assess for fetal aneuploidy during pregnancy. NIPT has higher detection rates and positive predictive values than previous methods; however, NIPT is not diagnostic. Studies suggest patients may underestimate the limitations of prenatal screening. Therefore, we conducted a prospective cross-sectional study of ninety-four women from genetic counseling clinics in Houston, Texas to assess patient understanding of the residual risk for aneuploidy after receiving a negative NIPT. The majority of participants (66%) understood the residual risk for Down syndrome following negative NIPT; however, 34% of participants indicated that negative NIPT completely eliminated the …


Obstetrician And Gynecologist Utilization Of The Nipt Expanded Testing Option, Sarah Mayes Ba May 2015

Obstetrician And Gynecologist Utilization Of The Nipt Expanded Testing Option, Sarah Mayes Ba

Dissertations & Theses (Open Access)

Noninvasive prenatal testing (NIPT) enables the detection of common fetal aneuploidies such as trisomy 21, trisomy 18, trisomy 13, and sex chromosome abnormalities via analysis of cell-free fetal DNA circulating in maternal serum. Although the accuracy of NIPT for fetal aneuploidy is expected to be higher than that of currently available alternative maternal serum screening options, the implications of results are not straight forward. In October 2013, the option to screen for additional trisomies and select microdeletion syndromes, such as 22q11.2 deletion syndrome and 5 p- syndrome, became clinically available. Due to this rapidly evolving prenatal screening technology, clinicians must …


Attitudes Toward And Utilization Of Non-Invasive Prenatal Testing For Chromosome Aneuploidy Among Ob/Gyns, Jessica Davis May 2013

Attitudes Toward And Utilization Of Non-Invasive Prenatal Testing For Chromosome Aneuploidy Among Ob/Gyns, Jessica Davis

Dissertations & Theses (Open Access)

Prenatal diagnosis is traditionally made via invasive procedures such as amniocentesis and chorionic villus sampling (CVS). However, both procedures carry a risk of complications, including miscarriage. Many groups have spent years searching for a way to diagnose a chromosome aneuploidy without putting the fetus or the mother at risk for complications. Non-invasive prenatal testing (NIPT) for chromosome aneuploidy became commercially available in the fall of 2011, with detection rates similar to those of invasive procedures for the common autosomal aneuploidies (Palomaki et al., 2011; Ashoor et al. 2012; Bianchi et al. 2012). Eventually NIPT may become the diagnostic standard of …