Outcomes of Prenatally Identified Congenital Anomalies in a Hospital-Based Consult Service
Emily J. Ji, BA1,2, Nikhil Sobti, BS1, Karen M. Parsons, RN1, Chien-Wei Liao, MD PhD1.
1Massachusetts General Hospital, Boston, MA, USA, 2Harvard Medical School, Boston, MA, USA.
PURPOSE: Improvements in imaging and genetic testing technologies such as next generation sequencing have allowed for most birth defects to be identified prenatally. There is a lack of available literature describing the current outcomes of fetuses where prenatal structural anomalies have been detected.
METHODS: We conducted a retrospective cohort chart review of malformations identified by a Fetal Care Consult (FCC) team at a tertiary care academic institution from 2016-2017. Outcome endpoints of treatment, maternal characteristics, primary and secondary identification methods, genetic testing, and decision to terminate, were recorded. Consults received by the FCC service were included in the study. Exclusion criteria include consults that were ongoing pregnancies at the time of analysis, did not result in a malformation diagnosis, or were lost to follow-up. Student's t-test and Pearson chi-square test were applied for data analysis.
RESULTS: Of the 112 cases identified, 92.9% of the congenital anomalies were first identified by ultrasound, 28.6% underwent genetic testing, and 14.3% resulted in elective termination of the fetus. Congenital abnormalities were stratified by severity, in accordance with a scale reported by Thomas et al, Birth Defects Research Part A, 2016. These results showed that fetal morbidity is associated with greater rate of elective termination. A subgroup analysis was done to evaluate patient characteristics between pregnancies that were continued compared with those that were terminated. Termination was associated with shorter gestation at the time of FCC (p=.002) and prior therapeutic terminations (p=.016) by Student's t-test. Rates of genetic testing were collinear with severity of prenatal condition. Pearson chi-square test suggests genetic testing did not predispose termination, although there is a trend towards significance (p=0.077). Cleft lip and palate were observed in 6.25% of cases. Within this group, there were no terminations, 71.4% underwent prenatal MRI, and 57% had genetic testing.
CONCLUSION: This study describes the current practices of a prenatal consultation service at an academic tertiary care hospital. In concordance with previous studies, more severe anomalies are more likely to be terminated. Almost all antenatal diagnoses of congenital malformations were identified by first trimester ultrasonography screen. The decision to pursue genetic testing is correlated with anomaly morbidity but greater sample size is necessary to determine the role of genetic testing in the decision to terminate. In the case of clefts where there can be a clear genetic cause, 57.0% compared to the overall rate of 28.6% opted for genetic testing. Continued monitoring of the role of genetic testing in prenatal diagnosis of congenital anomalies is needed in the era of personalized medicine.
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