Incremental cost-effectiveness of incorporating oestriol evaluation in down syndrome screening programmes

As screening for Down syndrome becomes increasingly sophisticated, it is important to evaluate the newer technologies in terms of their cost-effectiveness. One recent addition to Down syndrome screening programmes is maternal serum unconjugated oestriol (uE₃), especially when used in conjunction with maternal serum α-fetoprotein and human chorionic gonadotropin. Using assumptions used in a California proposal to justify an expanded screening programme for Down syndrome, we calculated both the average and the incremental cost-effectiveness of adding uE₃. Using the base case assumptions, including an $8 fee for the uE₃, the incremental cost-effectiveness of adding uE₃ to the proposed California programme is $119 100 per case detected, a value that compares favourably with other Down syndrome screening programmes. The sensitivity analysis supports this conclusion over a wide range of assumptions. However, because of the uncertainty with some key data, it is still too early to fully support the inclusion of uE₃ in Down syndrome screening programmes.     

Transvaginal chorionic villus sampling

Chorionic villus sampling (CVS) with either transcervical catheters or transabdominal needles is a widely-accepted method for prenatal diagnosis. However, there exists a small subset of patients in whom sampling is difficult or impossible with either route because of individual anatomic variations. A new method of chorionic villus biopsy has been developed to circumvent these problems, utilizing transvaginal chorionic needle aspiration guided by an intravaginal ultrasound probe. This technique was performed successfully in 15 patients in whom villi could not be obtained by either of the conventional methods. This method now makes CVS possible in essentially all women regardless of their uterine anatomy or placental placement; it may also prove useful for very early chorionic sampling.     

Prenatal diagnosis of cystinosis utilizing chorionic villus sampling

The prenatal diagnosis of cystinosis is currently based on the increased amount of free-cystine present in amniotic fluid cells. Amniocyte cultures must be grown for at least 2 weeks to obtain sufficient cells for such measurements. Thus, the diagnosis cannot be made until close to 20 weeks gestational age by this method. We report a case in which chorionic villi were used for direct cystine measurement resulting in the in utero diagnosis of cystinosis at 9 weeks gestational age. The diagnosis was confirmed by the study of cultured chorionic villus cells, and of the 10-week abortus.     

The importance of chorionic villus sampling after first trimester diagnosis of cystic hygroma

The prenatal diagnosis of The Turner Syndrome is described at a menstrual age of 12 weeks. Detection of cystic hygroma was followed by vaginal chorionic villous sampling (CVS) which revealed a 45,X karyotype. Early documentation of fetal karyotype in the presence of a cystic hygroma is essential for accurate diagnosis and genetic counselling.     

Prenatal diagnosis of a true mosaic trisomy 20 substantiated by demonstration of a gene dosage effect for adenosine deaminase (ADA)

Fibroblasts from a fetus with the prenatal diagnosis of mosaic trisomy 20 were cloned by dilution plating. Adenosine deaminase (ADA), a biochemical marker for chromosome 20, was assayed in trisomic clones and normal clones as control. The cytogenetic diagnosis was substantiated by demonstration of a triplex gene dosage effect for ADA in the trisomic cells.     

Evidence of a second gamete fusion after the first cleavage of the zygote in a 47,XX, + 18/70,XXX, + 18 mosaic. A remarkable diploid-triploid discrepancy after CVS

A 70,XXX, +18 karyotype was found by chorionic villus sampling, while the fetal fibroblast culture of the affected fetus revealed a 47,XX,+ 18 karyotype. From several possible mechanisms, we assume that a second gamete fusion occurred after the first cell division of the zygote. According to this interpretation, the mosaicism arose in very early pregnancy (at the two-cell stage). This discrepancy can therefore be explained by selection pressure, due to the differentiation processes in the embryonic tissues.     

Metamorphic evolution of eclogite and associated garnet-mica schist in the high-pressure metamorphic Maksyutov complex, Ural, Russia

Metasedimentary garnet-mica schists are interlayered with metabasic garnet–omphacite schists and enclose eclogite boudins in the high-pressure metamorphic Maksyutov complex in the Southern Urals, Russia. These three rock types were investigated in one outcrop and compared chemographically and thermobarometrically. The Fe/Mg distributions between garnet rim–omphacite and garnet rim–phengite pairs indicate different equilibration temperatures for the three samples, with the lowest temperature (500°C, >1.5 GPa) for the eclogite boudin, an intermediate temperature (630°C, >1.7 GPa) for the foliated eclogite and the highest temperature (650°C, >1.7 GPa) for the garnet-mica schist. The garnets in garnet-mica schist enclose abundant chloritoid relics and the Fe/Mg distribution between chloritoid and garnet records an earlier high-temperature stage (650°C, >2.0 GPa) before the garnet rim–phengite temperatures were reached. Together with some minimum- and maximum-pressure estimates three different prograde pressure–temperature paths and a common retrograde metamorphic evolution are interpreted from the chemographic and thermobarometric data. The different early metamorphic evolutions and conditions confirm the variability of protoliths, which are also indicated by different U/Pb zircon and rutile ages.