Prenatal genetic counselors' perceptions of the impact of abortion legislation on counseling and access in the United States.

Genetic counselors have an important role in offering and appropriate coordinating abortion services for patients identified with a fetal abnormality. Few studies have been conducted to determine the effects of legislation on genetic counselors and patients. This study aimed to further our understanding of genetic counselors' perception of the impact of abortion regulations on their practice, the perceived financial and emotional impact on their patients and their ability to access abortion. A 22-question survey was developed based on themes identified by a qualitative study (Koenig et al., 2019, Journal of Genetic Counseling, 28, 790-801), and distributed to members of the National Society of Genetic Counselors; data from 113 respondents are analyzed. For analysis, participants were categorized into three groups based on the restrictiveness of their state's abortion legislation (supportive, middle ground, hostile) using the Guttmacher Institute's designation based on the amount of restrictive abortion legislation in their state. Participants reported that legislative gestational age restrictions significantly impact their counseling and coordinating of abortion services. Participants reported emotional and financial burdens that impact their patients seeking abortion; however, those in hostile states were significantly more likely to report a perceived financial or emotional impact on their patients. Participants in hostile states were more likely than those in supportive states to report that many of the addressed legislative and institutional regulations impact patients' ability to access abortion. Abortion regulations limiting the decision-making time frame for patients with a fetal abnormality have a significant impact on the practice of prenatal genetic counseling. Further restrictions may change how genetic counselors choose to counsel their patients about the option of abortion, but also may limit the availability of choices particularly for patients in rural areas, in hostile states, and those without the financial resources to travel or pursue termination at later gestational ages.

De novo mosaic and partial monosomy of chromosome 21 in a case with superior vena cava duplication.

BACKGROUND: Full or partial monosomy of chromosome (chr) 21 is a very rare abnormal cytogenetic finding. It is characterized by variable sizes and deletion breakpoints on the long arm (q) of chr 21 that lead to a broad spectrum of phenotypes that include an increased risk of birth defects, developmental delay and intellectual deficit. CASE PRESENTATION: We report a 37-year-old G1P0 woman initially screened by non-invasive prenatal testing with no positive findings that was followed by an 18-week anatomy scan with a fetal finding of duplication of the superior vena cava (SVC). The medical and family history was otherwise uneventful. After appropriate genetic counseling, amniocentesis was performed to evaluate suspected chromosomal anomalies. CONCLUSIONS: Interphase fluorescent in situ hybridization revealed loss of one chr 21 signal that was further delineated by chromosomal microarray analysis on uncultured amniocytes as a terminal 10 Mb deletion on chr 21q. Karyotype and microarrays on cultured amniocytes showed two cell lines for a mosaic 21q terminal deletion and monosomy 21. The combined molecular cytogenetics results reported following the ISCN 2016 guideline as mos 46,XX,del(21)(q22)dn[20]/45,XX,-21dn[10].nuc ish(D21S342/D21S341/D21S259x1)[100].arr[GRCh37] 21q11.2q22.12(15412676_36272993)x1~2,21q22.12q22.3(36431283_47612400)x1. Parental chromosomal analysis revealed normal karyotypes. Thus, this was a de novo mosaic full and partial monosomy of chr 21 in a case with SVC duplication. Despite the association of congenital heart disease with monsomy 21 we could not find any published literature or online databases for this cytogenetic abnormality. The patient terminated the pregnancy following the abnormal molecular cytogenetic results due to the possible challenges the baby would face if carried to term.

Exploring prenatal genetic counselors' perceptions of abortion laws in restrictive states.

In many states, abortion laws are becoming increasingly restrictive. Prenatal genetic counselors often see patients after the diagnosis of a fetal abnormality or genetic disorder and discuss the option of termination of pregnancy. The purpose of this study was to understand prenatal genetic counselors' perspectives on how state abortion laws impact their practice. Qualitative semi-structured interviews were conducted with 16 prenatal genetic counselors in states with restrictive abortion laws who were recruited from the National Society of Genetic Counselors' online directory. Verbatim transcripts were analyzed thematically, yielding five themes: genetic counselors in this study described (a) how state laws restrict access to abortion; (b) how they navigate state laws and institutional policies regarding abortion; (c) how they tailor their professional practice in the context of state abortion laws; (d) how abortion laws burden patients; and (e) how they engage in forms of advocacy. Participants described the financial and emotional burden placed on their patients by state abortion laws and how the laws influence their patient interactions. As access to abortion becomes more restricted, it is important to be aware of how this will impact genetic counselors and their patients.

Clinical implementation of noninvasive prenatal testing among maternal fetal medicine specialists.

OBJECTIVE: To assess the clinical implementation of non-invasive prenatal testing (NIPT) among maternal-fetal medicine (MFM) specialists. METHOD: Practicing MFMs were invited by email to complete questionnaires via SurveyMonkey©. RESULTS: Of 278 respondents, 56% were male, 48% practiced in academic centers, and 94% currently offer NIPT. NIPT is most often being offered 'to specific patients meeting certain criteria' (59.2%), for indications of advanced maternal age (87.5%), abnormal screen results (94.9%), abnormal ultrasound findings (90.2%), and 'when a high-risk patient declines invasive diagnostic testing' (73.7%). Thirteen percent indicated NIPT is being offered as a diagnostic test. Regardless of whether NIPT was presented as a diagnostic or screening test, 65.3% of MFMs estimate 'some' of their patients have undergone invasive testing for confirmation. Responses were mixed concerning appropriate populations and diagnostic capabilities of NIPT, but MFMs generally agree NIPT should be confirmed with invasive testing and will replace conventional screening procedures. CONCLUSION: Assessment indicates NIPT is being adopted by MFMs, largely in accord with recently published American College of Obstetricians and Gynecologists and the Society for MFM guidelines. Cost and test performance remain factors for not adopting NIPT. Further research on clinical management based on NIPT results and patient understanding of NIPT results is suggested.