Conclusion: Prenatal diagnosis of Williams-Beuren syndrome in the second trimester have been previously reported but is uncommon. We describe the atypical features of nuchal edema, small stomach and echogenic cardiac focus at the second trimester. Our case underscores the value of microdeletion screening in fetal growth restriction in association with (mild) softmarkers.
Electronic poster abstracts levels of PAPP-A and β-hCG were normal and the combined risk of trisomies 21, 18 and 13 was low. As there was low combined risk for fetal trisomies, the invasive diagnosis was not offered to the patient. At 19 weeks scan assessment of the hands revealed no polydactyly both in 2D and 3D mode. The patient had normal term delivery and the baby had no signs of polydactyly. The literature search revealed only one available publication of prenatal auto-amputation of extra-finger in fetuses with isolated polydactyly. The possible mechanism of auto-amputation is recession of blood supply to the extra-finger, which causes necrosis and amputation of it. Our case might be helpful in providing the information about this rare events to both doctors and patients. We present a case of a 28 year old gravida, G1P0, referred to our tertiary perinatal centre at 12 + 5 weeks of gestation with a suspicion of a severely deformed fetus. A detailed scan showed a fetus with a single umbilical artery, unilateral hydronephrosis and a hydro-ureter, fusion of both lower extremities with only two longbones in the fused lower limbs and an abnormal aspect of one foot whereas the other foot is not clearly identifiable. Furthermore, an abnormal aspect of the pelvic bones and the lower lumbosacral spine was observed. One week later at 14 weeks of gestation already a severe oligohydramnios with a tendency to an increased flexure of the spine was observed aided by 3D ultrasound reconstruction. After extensive counselling regarding the neonatal and genetic prognosis, the couple opted for a pregnancy termination which carried out at 14 + 5 weeks. EP06.09A stillborn fetus was delivered at 14 + 6 weeks of gestation showing a single umbilical artery, unilateral hydronephrosis and hydro-ureter, spina bifida, bowed right femur, normal leg and abnormal position of the foot. Left aplasia of the leg. Pathological examination was performed as well as an MRI and a CNV microarray analysis of cells from the umbilical cord. Conclusion: We report a case of sirenomelia in the first trimester. Diagnosis was aided by 3D ultrasound and confirmed by pathological examination, x-ray and MRI. Department of Obstetrics and Gynecology, Hospital Particular do Algarve, Lisbon, PortugalCurrent pregnancy guidelines recommend offering non-invasive prenatal testing (NIPT) to all pregnant woman, mainly using combined first trimester screening. Recent studies have proposed to increase the use of cell-free fetal DNA (cffDNA) in routine clinical practice as a first-line method of screening or contingent on the results of the combined first trimester test, emphasising the high detection rate and the low incidence of FPR.We describe a clinical case of a double false positive non-invasive prenatal screening in discordance with fetal karyotype and phenotypical appearance at birth: 38-year old woman, primigravida, started the prenatal surveillance at 11 weeks and preformed the combined first trimester screening at 13 weeks gestation, with a first trimester scan...
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