Beckwith-Wiedeman Syndrome (BWS) is a rare genetic overgrowth disorder associated with various fetal structural anomalies. It affects approximately 1/14000 births. More frequent fetal features are macrosomia, abdominal wall defect, macroglossia, visceromegaly and associated polyhydramnios. In affected child a few case reports describe elevated alpha-fetoprotein (AFP) levels related to hepatoblastoma or mesenchymal hamartoma of the liver. A thirty-year-old patient, gravida 3, para 2, was referred to our unit at 34 weeks + 5 days gestation, for fetal macrosomia. The scan confirmed a macrosomic fetus and a 3D/4D scan of the fetal face showed a protruding macroglossia and a fixed opened mouth caused by an increased tongue thickness. Hepatomegaly, nephromegaly, cardiomegaly and polyhydramnios were visualized. The patient had performed a second trimester maternal serum screening, giving a Down Syndrome risk of 1 : 6085 and an elevated AFP level (3.05 MoM). On the basis of ultrasound scan a BWS was suspected. A female newborn was delivered by Cesarean section at term. Clinical evaluation of the neonate confirmed the prenatal features and BWS. The liver scan revealed hepatomegaly with no evidence of liver tumors. AFP was checked after birth and remained elevated. A surgical tongue reduction was performed. Follow-up at 12 months confirmed elevated AFP levels without evidence of liver tumors. Prenatal diagnosis of BWS is important to prevent hypoglycemia that occurs in 30-50% of affected neonates. In our experience when an elevated second trimester serum AFP is associated with fetal macrosomia at the twenty weeks scan a BWS should be included in the possible diagnosis. 3D/4D ultrasound evaluation of fetal face and tongue may be useful in the visualization and definition of macroglossia and viscera size. Elevated serum AFP level in fetuses affected by BWS is not always associated with liver tumors and therefore more causes should be searched for this feature.Beckwith-Wiedemann Syndrome (BWS) is a common genetic overgrowth syndrome. The syndrome was first described by Beckwith in 1963 and Wiedemann in 1964. Anterior abdominal wall defects, macroglossia and gigantism are considered the characteristic diagnostic triad of BWS findings. Although most cases appear to be sporadic (85%), the etiology of BWS is generally accepted as genetic. Present evidence supports autossomal dominant inheritance of BWS, with reduced penetrance and variable expressivity that may relate to the effects of genomic imprinting. It is estimated the BWS worldwide frequency is estimated at 1 in 13 700 live births. No sex or race predilection exists. Incidence is higher in infants produced with in vitro fertilization. We reported a case of a 32-year-old woman, primigravida, with fetal diagnosis of BWS in the second trimester of pregnancy. A bidimensional ultrasound scan showed a large anterior abdominal wall cyst, macroglossia and polycystic kidneys. Visceromegaly, a large to age fetus (over 95 th percentile) and increased placental size (almost twice the ...
Poster abstractsimagings concurred with those of the prenatal. Surgical separation was done successfully at the age of 8 months without immediate serious damages to each twin. This report supports the application of the novel 3D sonoangiography to determine the chance of successful operation in this complex anomaly. P36.08Acephalus acardiac fetus presenting at the third trimester scan as a small complex cystic mass Acephalus acardiac fetus is a rare condition due to twin reverse arterial perfusion syndrome (TRAP-sequence), affecting 1/35000 pregnancies and about 1% of monochorionic twins. In this condition the donor fetus (pump fetus) provides circulation for itself and the recipient twin, developing progressive heart failure. The acardiac twin is grossly abnormal, with severe reduction anomalies of the upper part of the body. We report a case of an acephalus acardiac fetus presenting at the third trimester scan as a small complex cystic mass. A 34-year-old woman, gravida 1, with a singleton pregnancy, was referred to our unit at 31 weeks and 6 days of gestation for a detailed scan, because of a neck/thorax fetal mass. The scan revealed an IUGR fetus (abdominal circumference at 10 th centile) with no evidence of structural anomalies. The umbilical and uterine artery Doppler flow were normal (umbilical artery PI 0.97, 50 th centile; RI right uterine artery 0.53; RI left uterine artery 0.45). An intramniotic complex mass, measuring 9 cm × 5 cm, was visualized, independent from fetal structures and from the uterus wall. A little and thin 'cord-like' structure connecting the cyst to the placenta was seen. Color and pulsed Doppler showed an umbilical artery flow. The diagnosis of acephalus acardiac twin was therefore suggested. The patient underwent weekly ultrasound examinations. At 35 weeks' gestation a Cesarean section was performed, because of donor progressive growth restriction, giving birth to a female healthy baby, weighing 2400 g, Apgar 9. Post-mortem examination of the small cystic mass confirmed prenatal diagnosis. Our report demonstrates that TRAP-sequence could present as an intramniotic small complex mass and, regardless of the dimension, affect pump twin growth. P36.09A rare case of late second trimester presentation of bilateral ovarian abscess causing ileus in twin pregnancy after oocyte retrieval for IVF M. Veneziano, F. Verdi, M. Braghetto, S. Messini Azienda Sanitaria della Provincia Autonoma di Bolzano, Div. Ginecologia e Ostetricia, Ospedale di Bolzano, ItalyOvarian abscess after oocyte retrieval for IVF is a possible complication, especially in patients with ovarian endometriomas. We describe a rare case of bilateral ovarian abscess presenting very late in a twin pregnancy achieved after IVF-ET and causing ileus requiring emergency laparotomy. A triplet trizygous pregnancy achieved after IVF in patient with endometriosis was complicated in the first trimester by ovarian hyperstimulation syndrome and early demise of one fetus. Ultrasound diagnosis of multiple malformations was performed on the s...
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