Amniotic fluid analysis in a fetus with laryngeal atresia

Complete laryngeal atresia is a rare congenital malformation that is known to cause hypertrophy of the fetal lung in utero. A fetus with laryngeal atresia was found to have markedly immature amniotic fluid lung maturity studies at term. Inappropriately low amniotic fluid lung maturity studies may be an important clue to the diagnosis of this condition.     

The 18-week fetal examination and detection of anomalies

From its beginning in the fifties the use of ultrasound in gynaecology and obstetrics has expanded extensively. Ultrasound technology has taken us from a time when the mother was our prime focus to the present where it is the unborn baby. Ultrasound assessments may have significant consequences for pregnancy care by optimizing the time, the mode and the location of the delivery as well as preparing the postnatal staff for a prenatally defined fetal problem. A major factor in the development was the groundbreaking work of an obstetrician, Ian Donald, and an engineer, Tom Brown, at Queen Mother's Hospital in Glasgow, who produced an ultrasound instrument called the Diasonograph. The first screening program offering a systematic ultrasound examination to a large pregnant population began in Malmoe, in 1973 and aimed to detect twins. Since then the examination has evolved over the years to include a systematic evaluation of the intrauterine contents. A number of randomized controlled trials have been reported and several large studies have reported the efficiency of routine fetal examinations for the detection of anomalies. Detection rates for the various subsets are presented. The learning curve regarding the ability to detect anomalies and the importance of proper training has also been shown. The procedure ‘routine fetal examination’ has been significant in supporting the continuous development of fetal medicine. The consequences of the improved dating of every pregnancy and the in utero transport of a sick fetus rather than an emergency transportation of a sick neonate, have an established evidence base. Ultrasound technology has had a remarkable ability to trigger great technical minds to move the technology forward year after year. Through a continuous cooperation between technicians and clinicians, this impressive technology of ultrasound will continue to support our work for the unborn child. Copyright © 2010 John Wiley & Sons, Ltd.     

Quantitative evaluation of collagen type VI and SOD gene expression in the nuchal skin of human fetuses with trisomy 21

Objective To investigate the involvement of the genes encoding for COL6A1, COLA2 and super-oxide dismutase (SOD) in the mechanism for the retention of subcutaneous fluid in fetuses with trisomy 21. Methods During a 7-month period (November 2004–May 2005), human fetal skin from the nuchal region was obtained from euploid fetuses and from fetuses with trisomy 21 following abortions and terminations of pregnancy. Cell cultures were performed from nuchal skin. Quantification of COL6A1, COL6A2, COL6A3 and SOD mRNAs were performed using real-time quantitative RT-PCR. Results Twelve fetuses were studied between 13–15 and 19–20 weeks of gestation including 7 cases of trisomy 21. A significant overexpression of genes of interest was demonstrated in trisomy 21 fetuses when compared with euploid fetuses, in the first and in the second trimester of pregnancy (p < 0.0001). Conclusion This study demonstrates a homogeneous overexpression of the genes encoding for α1 and α2 chains of Collagen type VI, and SOD in nuchal skin of human trisomy 21 fetuses. Persistence of this overexpression in the second trimester of pregnancy, despite the absence of an enlarged nuchal translucency (NT), may characterize some compensatory mechanisms. Copyright © 2007 John Wiley & Sons, Ltd.     

Case report: a prenatal case of Jarcho–Levin syndrome diagnosed during the first trimester of pregnancy

The Jarcho–Levin syndrome is a specific form of spondylocostal/spondylothoracic dysostosis. There have been various classifications of this syndrome. We present the case of a severe prenatal Jarcho–Levin syndrome, diagnosed by ultrasound examination during the first trimester of pregnancy in a family with no previous medical history of an affected child. X-ray exploration, high-resolution spiral computed tomography and autopsy confirmed the diagnosis. Copyright © 2003 John Wiley & Sons, Ltd.