Date of Graduation


Document Type

Thesis (MS)

Program Affiliation

Genetic Counseling

Degree Name

Masters of Science (MS)

Advisor/Committee Chair

Jennifer Czerwinski, MS, CGC

Committee Member

Syed Hashmi, MD, MPH, PhD

Committee Member

Mark A. Turrentine, MD, FACOG

Committee Member

Sandra Darilek, MS, CGC

Committee Member

Lara Friel, MD, PhD


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 make a conscious effort to keep abreast of the current options; however, the complexity of the testing methods, oftentimes unclear clinical utility of results, and current lack of professional guidelines for its use renders this task challenging. To assess physicians’ awareness of, utilization of, and attitudes toward the expanded NIPT option, 85 Houston, Texas area Obstetrician/Gynecologists (Ob/Gyns) were surveyed. While all respondents indicated they were aware of NIPT in its traditional form, 75% were aware of the expanded testing option. Of these respondents, 17% report having elected the expanded testing option when ordering NIPT. Thirty-nine percent of those surveyed indicated they would feel at least somewhat uncomfortable explaining the expanded testing option to a patient and, accordingly, 91% expressed that practitioners need more information regarding the screen. The responding Ob/Gyns indicated that this new screening option will be increasingly applicable to their future practice, with 28% indicating that they plan to incorporate the NIPT expanded testing option into their practice in the future. Based on these findings and the quickly evolving landscape of prenatal screening, education and reeducation of healthcare professionals is imperative to ensure responsible patient counseling, informed consent, and appropriate management following test results.


NIPT, noninvasive prenatal testing, maternal serum, obstetrics and gynecology, prenatal screen, genetic counseling, microdeletion, expanded NIPT, trisomy, genetic