The Integration of Noninvasive Prenatal Screening into the Existing Prenatal Paradigm: a Survey of Current Genetic Counseling Practice

Since its introduction four years ago, noninvasive prenatal screening for fetal aneuploidy (NIPS) has been widely adopted as a screening tool for women at a high risk for fetal aneuploidy. As use expands into the general population, questions arise concerning the integration of NIPS into preexisting screening paradigms. This study aims to examine the use of NIPS in current practice among prenatal counselors, predominantly in the United States, in order to inform strategies for the optimal use of both new and existing screening techniques. We electronically surveyed 208 members of the National Society of Genetic Counselors to ascertain how NIPS is currently being used. Genetic counselors were also queried as to the advantages and disadvantages of offering NIPS to all patients regardless of a priori risk. Results indicate substantial variation in practice regarding which patients are offered NIPS and how counselors have incorporated this technology into existing screening routines. The majority of participants report offering NIPS in conjunction with another method of screening for fetal aneuploidy, indicating that NIPS is being used as an addition rather than as a replacement. These screening methods primarily include nuchal translucency (NT) (45.1 %, n = 78) and first trimester serum screening, with or without an NT (19.7 %, n = 34). Furthermore, the majority report that they would be concerned about losing the clinical value of an NT in a complete transition to NIPS (85.4 %, n = 164). Counselors are evenly split on the merits of expanding the use of NIPS to the general population (con: 55.3 %, n = 105; pro: 44.7 %, n = 85). The lack of consensus suggests that updated practice guidelines might benefit counselors. In addition, respondents emphasized the need to better educate patients and providers about the risks, benefits, and limitations of the test.     

NSGC Practice Guideline: Prenatal Screening and Diagnostic Testing Options for Chromosome Aneuploidy

The BUN and FASTER studies, two prospective multicenter trials in the United States, validated the accuracy and detection rates of first and second trimester screening previously reported abroad. These studies, coupled with the 2007 release of the American College of Obstetricians and Gynecologists (ACOG) Practice Bulletin that endorsed first trimester screening as an alternative to traditional second trimester multiple marker screening, led to an explosion of screening options available to pregnant women. ACOG also recommended that invasive diagnostic testing for chromosome aneuploidy be made available to all women regardless of maternal age. More recently, another option known as Non-invasive Prenatal Testing (NIPT) became available to screen for chromosome aneuploidy. While screening and testing options may be limited due to a variety of factors, healthcare providers need to be aware of the options in their area in order to provide their patients with accurate and reliable information. If not presented clearly, patients may feel overwhelmed at the number of choices available. The following guideline includes recommendations for healthcare providers regarding which screening or diagnostic test should be offered based on availability, insurance coverage, and timing of a patient’s entry into prenatal care, as well as a triage assessment so that a general process can be adapted to unique situations.     

The Utility of Genetic Counseling Prior to Offering First Trimester Screening Options

In order to evaluate the utility of genetic counseling at the time of first trimester screening in patients with no previously identified genetic concerns, we reviewed family history data for 700 women seen for genetic counseling in Utah during 2005-2006. The mean maternal age was 35 years (Range: 16–47 years). The majority of patients seen were non-Jewish Caucasians (90.8%, 634/700). A three-generation pedigree was obtained from each woman by one of two certified genetic counselors and subsequently classified as “negative” (no birth defects/genetic disorders); “positive” (birth defect or genetic condition with a minimal/low risk of recurrence; additional evaluation/genetic testing during pregnancy not indicated); or “significant” (birth defect or genetic condition with an increased risk of recurrence; additional evaluation/genetic testing during the pregnancy indicated). About 72% (501/700) of the histories were negative, 19% (134/700) were positive, and about 9% (65/700) were significant. Among patients with significant family histories, 66% (n = 43) were women less than 35 years of age. We conclude that assessing a patient’s family history at the time of first trimester serum screening is a valuable resource for pregnancy management.     

Group Counseling for Aged Women

Because of the benefits of group-counseling experiences, the lack of psychological services for older adults, and the unique concerns of aged women, a group-counseling program for aged women was conducted. The results of these efforts are presented for the purposes of sharing the proposed program sequence, describing what actually took place during the group sessions, conveying the comments and reactions offered by the group participants, and summarizing what we learned about facilitating groups for aged women.     

Value Options and The Counseling Relationship

The contemporary literature of counseling psychology gives some evidence of the abandonment of the “neutrality” of permissiveness concerning the outcomes of counseling in favor of the search for the “good” life of full humanity. But now, we are faced with the most complex query as to the nature of the “good.” And we open Pandora's box to face not one single criterion of the good life, but a diversity of options available, hopefully, for “rational” choice by each adolescent. Without assuming that each student does cognitively choose from the array of options, the reader is led to identify and appraise eight of the many alternative hierarchies or complexes of value systems that, in the past, human beings have forged and adopted as the source and rationale of their daily behavior.     

Noninvasive Prenatal Testing/Noninvasive Prenatal Diagnosis: the Position of the National Society of Genetic Counselors

The 1997 discovery of free fetal DNA in maternal plasma launched clinical researchers’ efforts to establish a reliable method for non-invasive prenatal testing for fetal genetic conditions. Various methods, including, but not limited to, massively parallel sequencing (MPS) and selective analysis of cell-free fetal DNA in maternal plasma, have recently been developed as highly sensitive and specific noninvasive screening tools for common fetal chromosome aneuploidies. Incorporating these new noninvasive technologies into clinical practice will impact the current prenatal screening paradigm for fetal aneuploidy, in which genetic counseling plays an integral role. The National Society of Genetic Counselors (NSGC) currently supports Noninvasive Prenatal Testing/Noninvasive Prenatal Diagnosis (NIPT/NIPD) as an option for patients whose pregnancies are considered to be at an increased risk for certain chromosome abnormalities. NSGC urges that NIPT/NIPD only be offered in the context of informed consent, education, and counseling by a qualified provider, such as a certified genetic counselor. Patients whose NIPT/NIPD results are abnormal, or who have other factors suggestive of a chromosome abnormality, should receive genetic counseling and be given the option of standard confirmatory diagnostic testing.     

Evaluation of Group Vocational Counseling for Women

Single mothers on income assistance participated in a vocational counseling group to facilitate job reentry. Although no statistical changes in participants were recorded, patterns of change are discussed.     

Cystic Fibrosis Prenatal Screening in Genetic Counseling Practice: Recommendations of the National Society of Genetic Counselors

For over a decade, prenatal screening for cystic fibrosis (CF) has been considered a model for the integration of genetic testing into routine medical practice. Data from pilot studies and public policy discourse have led to recommendations by some professional organizations that CF screening should be offered or made available to pregnant women and their partners, and to couples planning a pregnancy. It is crucial that genetic counselors gain thorough understanding of the complexities of CF and the implications of positive test results, so that they may serve as a reliable, educated referral base and resource for health care providers and their patients. While not all pregnant women will be referred for genetic counseling prior to CF carrier testing, genetic counselors often will be asked to counsel clients after they have a positive test result, or who are found to be at increased risk. Genetic counselors can play an important role in providing accurate and current information as well as support for patients informed decisions. These recommendations were created by a multicenter working group of genetic counselors with expertise in CF and are based on personal clinical experience, review of pertinent English language medical articles, and reports of expert committees. The recommendations should not be construed as dictating an exclusive course of management, nor does the use of such recommendations guarantee a particular outcome. These recommendations do not displace a health care providers professional judgment based on the clinical circumstances of a particular client.     

A Test of Group Counseling

High school students were counseled in groups designed around either a “traditional” or an “accelerated interaction” format The efficiency of each approach in achieving the goals of guidance in education was studied. Group counseling appeared to be a useful counseling tool if organized on a weekly basis.     

Group Counseling with College Underachievers

Some of the controversy concerning the efficacy of psychotherapy or counseling has been resolved by recent evidence that studies reporting no effects had indiscriminately lumped together the high and low therapeutic conditions that are associated with successful and unsuccessful outcomes. The present study extends these findings to a group of essentially neurotic underachieving college freshmen. The 24 experimental students who received group counseling showed greater improvement in grade-point average than 24 matched, non-counseled control subjects. Further, those counseled subjects who received the highest therapeutic conditions tended to show the greatest improvement.