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Has noninvasive prenatal testing impacted termination of pregnancy and live birth rates of infants with Down syndrome?

10.1002/pd.5182Prenatal Diagnosis37131281-129

Sensitivity of routine ultrasound screening of pregnancies in the Eurofetus database

In this prospective study, we recorded details on 3685 fetuses with congenital structural abnormalities from an unselected population of women who underwent routine ultrasound examination during their pregnancies. Overall, 2262 fetuses were diagnosed as being abnormal before birth (sensitivity = 61.4%). The total number of abnormalities was 4615, of which 1733 (37.5%) were major abnormalities. The overall number of detected abnormalities was 2593 (sensitivity = 56.2%). If only major abnormalities were considered, the sensitivity rose to 73.7%, compared to only 45.7% for the minor abnormalities. Within each severity group, the accuracy of detection varied across systems. For the major abnormalities, it was higher for the central nervous system (88.3%) and urinary tract (84.8%), but lower for heart and great vessels (38.8%). Detection of minor abnormalities was also effective for the urinary tract (89.1%), but not for the heart and great vessels (20.8%) and the musculoskeletal system (18%).SCOPUS: cp.kFLWINinfo:eu-repo/semantics/publishe

Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities

ObjectiveIn the absence of aneuploidy or other pathogenic cytogenetic abnormality, fetuses with increased nuchal translucency (NT ≥ 3.5 mm) and/or other sonographic abnormalities have a greater incidence of genetic syndromes, but defining the underlying pathology can be challenging. Here, we investigate the value of whole exome sequencing in fetuses with sonographic abnormalities but normal microarray analysis.MethodWhole exome sequencing was performed on DNA extracted from chorionic villi or amniocytes in 24 fetuses with unexplained ultrasound findings. In the first 14 cases sequencing was initially performed on fetal DNA only. For the remaining 10, the trio of fetus, mother and father was sequenced simultaneously.ResultsIn 21% (5/24) cases, exome sequencing provided definitive diagnoses (Milroy disease, hypophosphatasia, achondrogenesis type 2, Freeman–Sheldon syndrome and Baraitser–Winter Syndrome). In a further case, a plausible diagnosis of orofaciodigital syndrome type 6 was made. In two others, a single mutation in an autosomal recessive gene was identified, but incomplete sequencing coverage precluded exclusion of the presence of a second mutation.ConclusionWhole exome sequencing improves prenatal diagnosis in euploid fetuses with abnormal ultrasound scans. In order to expedite interpretation of results, trio sequencing should be employed, but interpretation can still be compromised by incomplete coverage of relevant gene

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