Objective To determine the yield of prenatal testing and screening options after identification of fetal structural abnormalities using a novel mathematical model. Method A retrospective chart review was conducted to collect structural abnormality and genetic testing data on infants who were evaluated postnatally by a medical geneticist. A novel mathematical model was used to determine and compare the predicted diagnostic yields of prenatal testing and screening options. Results Over a quarter of patients with at least one structural abnormality (28.1%, n = 222) had a genetic aberration identified that explained their phenotype. Chromosomal microarray (CMA) had the highest predicted diagnostic yield (26.8%, P < .001). Karyotype (20.8%) had similar yields as genome wide NIPT (21.2%, P = .859) and NIPT with select copy number variants (CNVs) (17.9%, P = .184). Among individuals with an isolated structural abnormality, whole exome sequencing (25.9%) and CMA (14.9%) had the highest predicted yields. Conclusion This study introduces a novel mathematical model for predicting the potential yield of prenatal testing and screening options. This study provides further evidence that CMA has the highest predicted diagnostic yield in cases with structural abnormalities. Screening with expanded NIPT options shows potential for patients who decline invasive testing, but only in the setting of adequate pre‐test counseling.
Objective: Explore the utility of expanded carrier screening in evaluating heritable causes of congenital anomalies detected by prenatal ultrasound.Method: A retrospective chart review was conducted to collect structural abnormality and genetic testing data on infants who were evaluated postnatally by a medical geneticist. These were used to determine if expanded carrier screening could have determined the etiology prior to delivery. Additionally, recessive and Xlinked conditions on clinically available carrier screening panels were evaluated to determine the number of conditions associated with abnormal ultrasound findings.Results: Our retrospective chart review found 222 patients with genetic etiologies, including eight unique autosomal recessive conditions and six X-linked conditions in the 23% who underwent exome sequencing. Of these 14 unique conditions detected, three were included on a list of 271 conditions for which screening was available in 2019 and five were included on a 500 condition panel available in 2020.A literature review was performed on the list of 271 conditions and 88 were reported to be associated with one or more ultrasound abnormalities. Conclusion:This study demonstrates limited but potential utility for expanded carrier screening to determine the underlying etiology of congenital anomalies. Key points What's already known about this topic?� Expanded carrier screening is an established general population screening option.� Diagnostic testing via amniocentesis or CVS with chromosome microarray is recommended in pregnancies diagnosed with congenital anomalies via ultrasound.� Diagnosis of single gene disorders typically require additional testing beyond chromosome microarray.� This study evaluates the utility of expanded carrier screening as a risk assessment tool for pregnancies with congenital anomalies.
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