We studied the outcome of fetuses in whom cystic hygroma was diagnosed in the first and early second-trimester of pregnancy using transvaginal ultrasonography. The purpose of this study was to evaluate the association between fetal cystic hygroma and fetal cytogenetic abnormalities, and the long-term prognosis. Thirty-five consecutive fetuses between 9.1 and 13.4 weeks of gestation diagnosed as having a nuchal hygroma were evaluated ultrasonographically and karyotyped. Those with a normal chromosome complement were ultrasonographically monitored throughout the remainder of the pregnancy to document the resolution of the hygroma. Eighteen of thirty-five fetuses were found to have a normal karyotype and five of these were aborted electively. The hygromas resolved in ten of these karyotypically normal fetuses within four weeks of initial diagnosis and they were phenotypically normal at birth. Seventeen fetuses were karyotypically abnormal with trisomy twenty-one being the most common abnormality. Prenatal cytogenetic analysis should be offered to women with fetal cystic hygroma diagnosed in the first trimester. A normal outcome is likely in those without chromosome abnormalities.
Transabdominal placental biopsy under ultrasound guidance was carried out in 260 cases in the second trimester and 50 cases in the third trimester of pregnancy. Placental tissue was aspirated using an 18 or 20 gauge needle. In a total of 310 placental biopsies in the second and third trimester, 100 were performed because of suspicious ultrasonographic findings. Placental biopsy is simple in the presence of severe oligohydramnios where fetal blood sampling is usually more difficult. Oligohydramnios and polyhydramnios were the ultrasonographic findings in 50% of cases and were found to be associated with 30% of abnormal chromosomal findings. There was one (0.3%) abortion within two weeks following placental biopsy. Placental biopsy did not affect the outcome of the pregnancy.
Occlusal plane position was analysed cephalometrically in 35 Klinefelter adults (47,XXY) and compared with 60 eugnath control males (46,XY). The significantly smaller angles between the occlusal plane and the cranial base (NSL-OLs) and between the occlusal plane and the Frankfort horizontal plane (Fr-OLs) were obtained in 47,XXY males (P < 001), while the angles between the maxillary base and the occlusal plane (NL-OLs) and between the Camper's line and the occlusal plane (Camp.-OLs) were not significantly different (P > 0 05) from the control group. Significantly smaller angles between the occlusal plane and the cranial base (NSL-OLs) and between the occlusal plane and the Frankfort horizontal plane (Fr-OLs) in Klinefelter males are attributed to the hereditary infiuence of an extra X chromosome on the smaller growth of the cranial base and the greater growth of the lower border of the mandible. Although the maxilla was also shifted forward in XXY males in relation to the cranial base it was not enough to compensate for the hereditary infiuence, due to the greater growth of the lower border of the mandible and the smaller cranial base in 47, XXY males, on the inclination of the occlusal plane to the Frankfort horizontal plane and the cranial base. The forward shift of the maxilla was sufficient to compensate for the inclination of the occlusal plane in 47, XXY males to the maxillary base and the Camper's line (P > 0 05).
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