A 22-year-old woman, G1, P0, started prenatal care at 7 weeks of gestation. Ultrasound evaluation at 17 weeks revealed bilateral large, bright, hyperechogenic kidneys. Fetal bladder and the amniotic fluid volume were within normal limits then. Detailed ultrasonographic examination of the fetus did not show any additional abnormalities and amniocentesis performed for fetal karyotype resulted as 46, XY. Patient's family history revealed an adult type polycystic kidney disease (ADPKD) in her spouse and mother in law. After paediatric nephrology, paediatric surgery, and genetic counseling, this condition was thought as ADPKD clinically. Patient elected to continue to pregnancy understanding the implications and the long-term outcome of the fetus. Serial ultrasound examinations demonstrated further renal enlargement. Fetal renal artery doppler assessment revealed an early diastolic notch (renal artery doppler; S/D: 5.73, RI: 0.8) at 27 weeks of gestation; with the presence of oligohydramnios. At 37 weeks of gestation, C/S was performed for breech presentation. A 3610 g, male fetus with 1 and 10-minute Apgar scores of 10 was delivered. Neonatal abdominal ultrasound showed hyperechogenic and enlarged kidneys with multiple cysts < 6.5 mm. DTPA revealed a reduction in renal perfusion with a delay in reaching the maximum concentration of the urine; no reflux was present at VCUG. Right and left kidney had a GFR of 45 ml/min and 39 ml/min respectively. Urine analysis and culture have no pathologic findings. At postpartum day 1, hypertension developed, which then responded to multiple antihypertensive drug therapy. This is the first case in the literature in which an abnormal fetal renal artery doppler measurement has been detected in a fetus with ADPKD, which presented with early hypertension after delivery.
P167Prenatal diagnosis of asphyxiating thoracic dysplasia during the mid trimester us scan P. Laviscio*, A. Nazzaro †, F. Lonardo †, M. Locci*, M. Della Monica †, G. Nazzaro*, A. Merenda*, G. De Placido* and G. Scarano † *University of Naples ''Federico II'', Italy and †A.O.R.N. ''G. Rummo'' of Benevento, Italy Asphyxiating thoracic dysplasia -MIM 208500 -also known as Jeune syndrome is a rare autosomal recessive chondrodysplasia characterized by a small thorax, rhizomelic brachymelia, pelvic and renal anomalies, polidactily has been described. The incidence is unknown and no recognized teratogen or chromosomal abnormality have been reported. We describe a prenatal diagnosis of Jeune syndrome detected as earlier as the 20th week of gestational age. The patient was a 26-year old Caucasian woman, gravida1, referred tour prenatal diagnosis unit for the mid second trimester US scan. Pregnancy until then was otherwise uneventful. During the US scan a narrow chest with short and abnormally curved ribs was detected, the heart, otherwise normal, was occupying, quite completely, the anterior part of the thorax; a shortness of the limbs, below the 20 • centile, associated with clubfeet were found; the kidneys appeared normal...