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Based on the experience of 63 antenatal diagnoses of fetal uropathic conditions we discuss the diagnostic problems, practical implications of antenatal diagnosis and potential indications of in utero intervention. A correct diagnosis was established in 43 of the 63 cases (70 per cent). Diagnostic problems were encountered in differentiating among multicystic dysplastic kidneys and ureteropelvic junction obstruction, dilatation owing to reflux or obstruction and lack of visualization of small hypoplastic kidneys. Transitory urinary tract dilatation was found in 14 cases (22 per cent) and can be responsible for additional false positive findings. Evaluation of the thoracic development and amniotic fluid must be part of the examination, since they are related to severe obstructive uropathy. Repeat examinations are necessary in these cases.

Amniofetography is a valuable tool for the diagnosis of fetal malformations. This technique is being used routinely in pregnancies carrying a high risk of external fetal malformations. There are very few published data concerning the effect of radiopaque dyes, containing large amounts of iodide, on fetal thyroid function. We have performed serial determinations of serum thyrotropin and thyroxine in seven newborn infants to assess the effect of amniofetography on fetal thyroid function. This work demonstrates that amniofetography induces a transient impairment of fetal thyroid function.

Mucoviscidosis, the most frequently lethal genetic syndrome of Caucasian population, is a recessive disease with multiple tissue involvement. Although the major pathological changes are observed in lungs and pancreas, abnormalities have also been detected in several other exocrine glands. For many reasons, such as the ready availability of tissue material, the absence of secondary changes and the potential for prenatal diagnosis, cultured skin fibroblasts could be the tissue of choice to search for the primary defect. Several abnormalities have been reported in CF fibroblasts, suggesting that the genetic abnormality is expressed in these cells. To search for potentially mutant protein(s) we have compared the protein composition of normal and CF fibroblasts by two dimensional gel electrophoresis and double-labeling autoradiography using 35S and 75Se methionine as tracer. The results demonstrate the power of the method; however, we have not found one protein spot consistently missing in CF cells. Possible reasons for the absence of a single common identifyable defect are discussed

Late amniocenteses (>20 weeks' gestation) were performed in 114 pregnancies with no a priori genetic risk, but referred because of abnormal clinical and/or ultrasound findings suggesting fetal malformations. Reasons for referral included polyhydramnios (51 cases), oligohydramnios (15 cases), fetal growth retardation (FGR) (16 cases) and abnormal fetal ultrasound findings excluding anencephaly (32 cases). In 42 of these cases, referral was motivated by a combination of the above abnormal findings. When polyhydramnios was the sole anomaly (25 cases), 5 fetuses were malformed (20%), abnormal fetal karyotype and/or elevated amniotic fluid alphafetoprotein (AFP) were demonstrated in 2 cases. Oligohydramnios was the sole anomaly in one case; the infant died of prematurity. Fetal growth retardation was the sole anomaly in 14 cases, 11 otherwise normal newborns were small for date, 2 died at birth and 1 was malformed (1/14, 7%). In this group all fetal karyotypes were normal and in 2 cases amniotic fluid AFP were increased. In the 32 pregnancies without abnormal amniotic fluid volume and/or FGR and with fetal malformation(s) suggested by ultrasound, all malformations except one (ovarian cyst possibly ruptured during birth) were confirmed at birth, amniotic fluid AFP was elevated, and/or karyotype was abnormal in 6 cases. In 42 pregnancies where more than one alarm sign was present, abnormal karyotype and/or elevated amniotic fluid AFP level were recorded in 21 of the 39 cases where amniocentesis was performed, 33 fetuses were malformed (79%) and 13 died in the perinatal period (31%). The high incidence of abnormal results of amniocentesis found in this survey of pathological pregnancies, particularly in those with multiple alarm signs, emphasizes the need for amniocentesis in these situations.

Whereas acetylated thyrotrophin preparations antagonize thyrotrophin in vivo(Sonenberg & Money1957, 1960), we have demonstrated that this inhibitory activity of acetylated thyrotrophin preparations against thyrotrophin does not exist in vitro.The material studied was the thyroid glands of dogs.