A short rib polydactyly syndrome overlapping both lethal and nonlethal types.

Short rib polydactyly syndrome (SRPS) type II is a rare, autosomal recessively inherited, lethal skeletal dysplasia characterized by polydactyly, short limbs, short and horizontal ribs, a short ovoid tibia and major organ anomalies. We report a patient with a fetus with SRPS type II that presented at the 19th week of pregnancy for amniocentesis because of maternal age. During ultrasound pre-axial synpolydacytly, a short and ovoid tibia, nuchal edema, vertebral irregularities, hypoplastic thorax with short ribs and talipes were detected. All of the extremities were under the 5th percentile. Thorax-abdomen ratio was 0,56. The family was counselled for a diagnosis of lethal SRPS. After termination of pregnancy, radiological and histopathological examination allowed us to reach the diagnosis ofMajewski syndrome (SRPS type II). SRPSs are a continuous spectrum of both lethal and nonlethal forms. Prenatal diagnosis and termination depending on ultrasound findings should be done very precociously considering different phenotypic expressions, even in families previously affected by a lethal SRPS.

Correlations of fetal-maternal outcomes and first trimester 3-D placental volume/3-D power Doppler calculations.

OBJECTIVE: To investigate correlations between first trimester placental volume, placental vascularization indexes and the outcome of those pregnancies. The possible prediction of macrosomia and intrauterine growth restriction in the first trimester are studied. METHODS: We prospectively examined 145 pregnant patients at 11-14 weeks of gestation using transvaginal 3D gray-scale and power Doppler ultrasound. The acquired volumes were analyzed using the VOCAL imaging program, for assessing placental volume, vascularization index (VI), flow index (FI) and vascularization flow index (VFI). The results were correlated with the pregnancy outcome. RESULTS: Correlations between placental volume and the intrauterine growth restriction group of infants classified according to their anthropometric measurements were significant. As the placental volume decreases, percentage of intrauterine growth restriction increases. In the aspect of placental vascularisation indexes, VI showed a positive lineer correlation with newborn weight. CONCLUSION: The 3D placental volume and blood flow calculations could be important in the prediction and easy, rapid diagnostic evaluation of fetal growth restriction presenting with placental volume and vascular tree alterations even beginning at the first trimester.