Objective Exome sequencing is a successful option for diagnosing individuals with previously uncharacterized genetic conditions, however little has been reported regarding its utility in a prenatal setting. The goal of this study is to describe the results from a cohort of fetuses for which exome sequencing was performed. MethodsWe performed a retrospective analysis of the first seven cases referred to our laboratory for exome sequencing following fetal demise or termination of pregnancy. All seven pregnancies had multiple congenital anomalies identified by level II ultrasound. Exome sequencing was performed on trios using cultured amniocytes or products of conception from the affected fetuses.Results Relevant alterations were identified in more than half of the cases (4/7). Three of the four were categorized as 'positive' results, and one of the four was categorized as a 'likely positive' result. The provided diagnoses included osteogenesis imperfecta II (COL1A2), glycogen storage disease IV (GBE1), oral-facial-digital syndrome 1 (OFD1), and RAPSN-associated fetal akinesia deformation sequence.Conclusion This data suggests that exome sequencing is likely to be a valuable diagnostic testing option for pregnancies with multiple congenital anomalies detected by prenatal ultrasound; however, additional studies with larger cohorts of affected pregnancies are necessary to confirm these findings.

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Five patients with abnormal pregnancies were examined with ultrasound (US) and magnetic resonance imaging (MR). Three had a malformed fetus, 1 had a molar pregnancy, and 1 had an ovarian mass. Both maternal and fetal structures were clearly shown, although fetal motion may have resulted in image degradation in some cases. The authors suggest that MR may be useful in obstetric diagnosis.

Twenty-four pregnant women carrying 26 fetuses (two sets of twins) were imaged with magnetic resonance (MR) imaging at 0.35 T following sonographic evaluation. Each study was retrospectively evaluated to determine which of 33 normal fetal structures were visible on the images and which imaging parameters were most useful for depicting fetal anatomy. Fetal motion degraded fetal images in all but two cases, both with oligohydramnios and in the third trimester of gestation. Nevertheless, many fetal structures were identifiable, particularly in the third trimester. Visualization of fetal anatomy improved with intravenous maternal sedation in five cases. Relatively T1-weighted images occasionally offered the advantage of less image degradation owing to fetal motion and improved contrast between different fetal structures. More T2 weighting was believed to be advantageous in one case for outlining the fetal head and in one case for delineation of the brain. In many cases, structures were similarly identifiable (though with different signal intensities) regardless of the parameters selected. The authors conclude that MR imaging of many fetal structures is currently unsatisfactory and is probably of limited value, particularly in the first and second trimesters. However, the relative frequency and detail with which the fetal head and liver can be depicted indicate that these may be areas for further investigation, and the potential utility of imaging fetal fat warrants further investigation.

Sixteen pregnant patients with pelvic masses detected with ultrasound (US) were studied with magnetic resonance (MR) imaging at 0.35 T. Two patients were in their first trimester, eight in the second, and six in the last. On MR images, 34 masses were seen, including 19 uterine leiomyomas. With US, 20 masses were detected. All masses not seen with US were leiomyomas. Only 20 masses (in 11 patients) were removed for histologic study. In nine cases, MR imaging and US provided similar information on the origin, extent, and type of mass. In seven patients, MR imaging contributed additional information. MR imaging depicted more leiomyomas than US in three patients. In another case, MR images showed that a mass depicted with US was actually a loop of bowel. MR images allowed differentiation between a solid soft-tissue mass and a hemorrhagic fluid-containing mass, correctly depicted the presence of an abdominal pregnancy, and allowed evaluation of the parametrium for spread of cervical carcinoma.