158 Role for pre-procedure genetic counseling in pregnancies interrupted for fetal anomalies

Abstract

Birth defects are identified in 3-5% of pregnancies. Employment of genetic tools have aided in finding the cause of many anomalies. This study’s objective was to identify predictors of genetic counseling and diagnostic testing at the time of termination. A retrospective cohort review was done on all terminations performed for fetal anomalies at an academic family planning division from July 2016 to May 2020. Data was abstracted related to genetic counseling, aneuploidy screening, karyotype, and microarray. Additional variables were type of anomaly by organ system, BMI, insurance, race, language and age. Multivariable logistic regression was performed to adjust for covariates. Among a cohort of 400 women, 49% (n=199) had a suspected genetic condition based on serum screening. Of these 92% (n=182) had diagnostic testing, of which 92% (n=168) confirmed aneuploidy. Of the other 201 patients with isolated structural anomalies, 51% (n=104) had a karyotype of which 7% (n=7) were abnormal and 35% (n=70) had a microarray of which 10% (n=7) were abnormal. The yield differed by the organ system involved (Table 1). Patients with isolated structural anomalies were less likely to get diagnostic testing compared to those with abnormal serum screening and a normal ultrasound (82% vs. 93%, p=0.016). Karyotype or microarray was utilized more often in patients who had pre-procedure genetic counseling (88% vs. 74%, p< 0.001), still significant after adjusting for covariates (aOR 2.21 95% CI[1.25-3.90]). Patients with multisystem, neurologic, cardiac and chest anomalies were less likely to have genetic testing compared to those with suspected chromosomal conditions by serum screening (Table 2). Genetic counseling is associated with increased rates of diagnostic testing. This is vital for reproductive planning and recurrence risk, thus should be offered to all presenting for termination for anomalies. Workup for isolated anomalies should move beyond karyotype and microarray due to low yield of abnormal results and panels for single-gene disorders or exome sequencing may be considered.View Large Image Figure ViewerDownload Hi-res image Download (PPT)