Publications by authors named "Aarti Ramdaney"

6 Publications

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The impact of genetic counseling on women's grief and coping following termination of pregnancy for fetal anomaly.

J Genet Couns 2021 Apr 26;30(2):522-532. Epub 2020 Oct 26.

The University of Texas MD Anderson Cancer Center UTHealth Graduate School of Biomedical Sciences, Houston, TX, USA.

Pregnancy termination for fetal anomaly (TFA) is a unique experience that can cause women to develop long-term complicated grief. Although a woman's experience with her healthcare providers has been previously identified as an important factor in coping, studies have shown that many women report their health care as lacking to some extent. Given the overlap in women's needs and the practice scope of a genetic counselor (GC), this study aimed to examine how genetic counseling may impact coping and explore women's expectations of GCs pre- and post-TFA. An online survey, which included the brief COPE and the short version of the Perinatal Grief Scale, was distributed among private online support groups. Appropriate statistical analysis tools, such as the Wilcoxon rank-sum and t test, were utilized for quantitative analysis of the 124 responses, and inductive content analysis was utilized for qualitative analysis. Of those who underwent TFA within the last two years, women who saw a GC utilized active coping, planning, and positive reframing significantly more than women who did not see a GC (p = 0.001, p = 0.031, p = 0.027, respectively). GCs were perceived to have a positive impact on coping when providing information, objective care, emotional support, support resources, and follow-up care; these practices encouraged confidence in their personal decision-making and gave women hope for the future. This study not only identified key counseling roles for GCs prior to a TFA, but also demonstrated that genetic counseling prior to TFA may be beneficial to coping. Further studies are warranted to explore the needs of a more diverse population and to identify appropriate genetic counseling training methods to support women pursuing TFA.
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http://dx.doi.org/10.1002/jgc4.1338DOI Listing
April 2021

Clinical experience with sex chromosome aneuploidies detected by noninvasive prenatal testing (NIPT): Accuracy and patient decision-making.

Prenat Diagn 2018 10 15;38(11):841-848. Epub 2018 Aug 15.

Department of Obstetrics, Gynecology and Reproductive Sciences, McGovern Medical School at the University of Texas Health Science Center at Houston, Houston, TX, USA.

Objective: The objectives of the study are to assess the accuracy of noninvasive prenatal testing (NIPT) for sex chromosome aneuploidies (SCAs) and to investigate patient decision-making in clinical practice.

Study Design: This is a retrospective cohort study review of positive NIPT results for SCAs from January 2013 to September 2017.

Results: Of the 136 positive NIPT results for SCAs, 73 (53.7%) were positive for 45,X, 62 (45.6%) were a sex chromosome trisomy, and 1 was a sex chromosome tetrasomy. Of the 134 viable pregnancies, 46 (34.3%) elected to pursue prenatal diagnosis. Fewer women underwent invasive prenatal testing when counseled regarding a positive NIPT for monosomy X in the presence of suggestive ultrasound findings (4/23; 17.4%) compared with those who had a positive NIPT result without ultrasound findings (24/46, 52.2%). Abnormal karyotypes consistent with the NIPT result were confirmed in 30/64 (46.9%). Even in the context of ultrasound abnormalities, there was not 100% concordance.

Conclusions: The majority (88/134; 65.7%) of patients in our cohort declined prenatal diagnosis even in the presence of associated ultrasound findings. Comprehensive pretest and posttest counseling is recommended and should address the importance of confirmatory testing and benefits of early diagnosis. Practice guidelines are needed to address provider responsibilities about postnatal testing.
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http://dx.doi.org/10.1002/pd.5339DOI Listing
October 2018

Close but not quite: Two cases of sex chromosome aneuploidies outside the scope of cell free DNA screening.

Prenat Diagn 2018 Apr 12. Epub 2018 Apr 12.

Department of Obstetrics, Gynecology and Reproductive Sciences, McGovern Medical School at the University of Texas Health Science Center at Houston, Houston, TX, USA.

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http://dx.doi.org/10.1002/pd.5264DOI Listing
April 2018

Beware the laboratory report: discrepancy in variant classification on reproductive carrier screening.

Genet Med 2018 03 26;20(3):374-375. Epub 2017 Oct 26.

Department of Obstetrics and Gynecology, University of Utah, Salt Lake City, Utah, USA.

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http://dx.doi.org/10.1038/gim.2017.174DOI Listing
March 2018

Managing Variant Interpretation Discrepancies in Hereditary Cancer: Clinical Practice, Concerns, and Desired Resources.

J Genet Couns 2018 08 20;27(4):761-769. Epub 2017 Dec 20.

Medical Affairs, Quest Diagnostics Laboratory, Atlanta, GA, USA.

Variant interpretation is a complex process, and classification may vary between sources. This study aimed to determine the practice of cancer genetic counselors regarding discrepancies in variant interpretation and to identify concerns when counseling these discrepancies. An electronic survey was sent to genetic counselors in the NSGC Cancer Special Interest Group. The vast majority of counselors (93%) had seen a variant interpretation discrepancy in practice. A large majority (96%) of respondents indicated that they conducted their own research on reported variants. Most respondents cited variant databases as the most common resource utilized in researching variants. Approximately 33% of counselors spent 45 min or more of extra time researching a discrepancy compared to researching a variant with a single classification. When asked how they approached counseling sessions involving variant interpretation discrepancies, the free responses emphasized that counselors considered family history, clinical information, and psychosocial concerns, showing that genetic counselors tailored the session to each individual. Discrepancies in variant interpretation are an ongoing concern for clinical cancer genetic counselors, as demonstrated by the fact that counselors desired further resources to aid in addressing these discrepancies, including a centralized database (89%), guidelines from a major organization (88%), continuing education about the issue (74%), and functional studies (58%). Additionally, most respondents reported that the ideal database would be owned by a non-profit organization (59%) and obtain information directly from laboratories (91%). This investigation was the first to address these discrepancies from a clinical point of view. The study demonstrates that discrepancies in variant interpretation are a concern for clinical cancer genetic counselors and outlines the need for additional support.
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http://dx.doi.org/10.1007/s10897-017-0184-6DOI Listing
August 2018

Support Desired by Women Following Termination of Pregnancy for a Fetal Anomaly.

J Genet Couns 2015 Dec 2;24(6):952-60. Epub 2015 Apr 2.

Genetic Counseling Program at The University of Texas Graduate School of Biomedical Science at Houston, Houston, TX, 77030, USA.

With the rapidly evolving field of prenatal testing, there is a growing need to provide support for women pursuing termination of pregnancy following the discovery of a fetal anomaly. Previous studies have documented that women in this situation often feel unsupported, but the type of resources desired by this population remains undetermined. We studied the awareness and utilization of support resources in 51 women at the time of the procedure, at 6 weeks, and at 3 months following the event. Though largely knowledgeable of existing resources at the time of the procedure, only 50 % admitted contemplating their individualized need for support. Most expected to rely on the support of family and friends. Additionally, 50 % expressed the desire to commemorate the pregnancy, though none wanted direct contact with their healthcare provider(s). Responses from the 6 weeks and 3 months assessments were consistent with previous literature as many women indicated not coping as expected and were unprepared for the psychological consequences following the procedure. Our findings indicate that women in these situations may not realize what their long-term support needs will be. They further indicate that guidelines for routine follow-up care should be established among healthcare providers that respect this population's initial desires to avoid reminders of the pregnancy and promote a flexible timeframe for support uptake. Additional support resources that promote flexible uptake as well as meet the desires of anonymity and ease of access need to be developed for this population.
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http://dx.doi.org/10.1007/s10897-015-9832-xDOI Listing
December 2015