The aim of this study was to evaluate pregnancy outcome and early childhood of chromosomally normal fetuses with increased nuchal translucency at 10-14 weeks' gestation. A total of 63 chromosomally normal fetuses with a first-trimester nuchal translucency thickness of 3 mm or more were evaluated. In ongoing pregnancies, follow-up scans were performed to detect or exclude additional structural anomalies in the fetus. Follow-up of the live-born children was by questionnaires sent to parents or reviews of medical records. In 11 fetuses, additional structural anomalies were diagnosed at follow-up scans; in this group there were five terminations of pregnancy, two intrauterine deaths, two neonatal deaths and two survivors. In addition, there were two unexplained intrauterine deaths. The remaining 50 pregnancies resulted in live births and the parents were sent questionnaires on the follow-up of their children. Responses were received on 34 children at 7-75 months of age. Twenty-nine children are healthy and five showed various minor health problems not related to the presence of increased nuchal translucency. These findings suggest that chromosomally normal fetuses with first-trimester increased nuchal translucency and normal follow-up scans have a good prognosis for a normal early childhood.
We investigated the development of the skeleton in the embryonic and early fetal period both with ultrasonography and radiology. Eight normal embryos/fetuses were studied weekly with real-time transvaginal sonography between 8 and 16 weeks of gestation to establish the ultrasonographic characteristics of normal ossification. Additionally, ossification was studied in radiographs obtained from five embryos/fetuses between 9 and 14 weeks of gestation. Ossification centers, visualized as increased echogenicity of the bone, were recognized with ultrasonography from 9 weeks onwards. The appearance of primary ossification centers as observed by transvaginal ultrasonography was at the same gestational age or at most 1 week later than when obtained with radiography or whole-specimen staining techniques. Transvaginal ultrasonography enables early visualization of ossification centers in the embryo and fetus. Detailed knowledge of the development of ossification of the skeleton may contribute to early prenatal diagnosis of skeletal dysplasias.
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