Nearly half of all severe fetal anomalies can be detected by first-trimester screening in experts' hands.

Objective To evaluate the detection rate of severe fetal anomalies at the first-trimester screening (FTS) and, vice versa, to evaluate the follow-up of pathological results at FTS at the time of mid-trimester screening (MTS) and throughout pregnancy and delivery in a partially selected population of low-risk pregnancies. Methods We conducted a prospective study on the detection of severe fetal anomalies at routine FTS in 9891 pregnant women with 10,294 fetuses between 11 + 0 and 13 + 6 weeks of gestation. The findings of FTS were compared to the results of MTS and pregnancy and neonatal outcomes. Only cases with severe fetal anomalies were taken for statistical analysis in this study. Results There were 232 cases of fetal anomaly altogether. At the time of FTS, sonographic anomalies were diagnosed in 113 cases and further ultrasound controls arranged. In four cases, fetal anomaly was not confirmed by MTS; in the remaining 109 cases, the sonographic anomaly seen at FTS was confirmed at MTS and in the course of pregnancy with a resulting sensitivity for fetal malformation at FTS of 47.8%, a specificity of 99.96%, a positive predictive value of 96.5% and a negative predictive value of 98.8%. Conclusion FTS can detect almost half of all severe fetal anomalies at an early stage of pregnancy with positive predictive values of 90% and more. Sensitivities varied depending on the organ system and reached the highest figures for anomalies of the heart, the abdomen, the spine and the skeletal system.

Heteropagus (parasitic) twins: a review.

Heteropagus, or "parasitic," twins are asymmetric conjoined twins in which the tissues of a severely defective twin (parasite) are dependent on the cardiovascular system of the other, largely intact twin (autosite) for survival. The estimated incidence of heteropagus twins is approximately 1 per 1 million live births. Isolated case reports comprise most of published work on this rare congenital anomaly. In the past, review articles have focused narrowly on one particular anatomical subtype of parasitic twin and/or on the anatomicopathology observed. Here, we present the epidemiology, proposed pathoembryogenic origins, anatomical abnormalities, management, and outcomes of the wide array of heteropagus twins described in the English language literature.

The occurrence of schistosomus reflexus in bovine dystocia.

The occurrence of schistosomus reflexus as a cause of bovine dystocia in south western Victoria is described. Examination of records made by 21 veterinarians during a 20-year period (1966 to 1985) showed that of 6901 cases of bovine dystocia attended, 90 (1.3%) were caused by schistosomus reflexus. Most cases (56.7%) were treated by embryotomy, 25.6% by caesarean section and 3.3% by simple traction. Treatment of the remaining 14.4% of cases was not completed and was considered hopeless, mainly because of the emphysematous condition of the foetus and the toxic condition of the cow, which gave a poor prognosis. Some of these hopeless cases were sent to slaughter, but most were euthanased by the attending veterinarian. Sixty-nine (76.7%) of the patients were cows and 21 (23.3%) were heifers. Seventy-two (80%) were dairy breeds and 18 (20%) were beef breeds. Jersey was the main dairy breed (63.8%) and Hereford the dominant beef breed.

The cyclops and the mermaid: an epidemiological study of two types of rare malformation.

Infants with cyclopia or sirenomelia are born at an approximate rate of 1 in 100,000 births. Eight malformation monitoring systems around the world jointly studied the epidemiology of these rare malformations: 102 infants with cyclopia, 96 with sirenomelia, and one with both conditions were identified among nearly 10.1 million births. Maternal age is somewhat increased for cyclopia, indicating the likely inclusion of some chromosomally abnormal infants which were not identified. About half of the infants are stillborn. There is a female excess among infants with cyclopia. Excess twinning occurred for cyclopia and possibly also for sirenomelia. An analysis of associated malformations indicates the similarity between the two conditions, which is in agreement with recent embryological analysis.

[A case of double monster--duplicitas anterior with diprosopia]. / Ein Fall von Doppelmissbildung--Duplicitas anterior mit Diprosopie.

Report on a delivery of a double monster, duplicitas anterior with diprosopia. The course of delivery is compared with literature. The exclusion of malformations in early pregnancy is possible and necessary. Perinatal mortality can be reduced by abortion in time. The psychic burden of women concerned needs a special regard.

[Application of terms of probability theory in embryology and teratology]. / Zur Anwendung wahrscheinlichkeitstheoretischer Begriffe in Embryologie und Teratologie.

The aim of the paper was to show that accurate morphological statements can be made with the help of simple concepts of the theory of probability. Binomial distribution was used to find out whether the number of male and female births in large families was random or whether a particular disposition to boys/girls was to be assumed. It was found that the relation was random as a rule. A second question was that of the connection between a number of simultaneous variations and deformities. After the injection of trypan blue, combined deformities were studies in rats and found to be independent of each other, i.e. all had been directly caused by trypan blue.

Craniofacial duplication (diprosopus).

No congenital malformation in infants is more profound than anterior craniofacial duplication. The precise term for this rare anomaly is diprosopus, referring to a fetus with a single trunk, normal limbs, and varying degrees of facial duplication. A search of the world literature produced only 16 cases of diprosopus since 1864. Despite the rarity of this anomaly, three such infants were born in the Southern California area during the past year, making this the largest reported series to date. The three infants were born with two distinctly formed faces. Each had four separate eyes, two mouths, two noses, and two ears with a primitive ear or sinus tract at the plane of fusion. In addition, multiple congenital aberrations existed which involved a variety of internal organs. The pathogenesis of diprosopus is not well understood, but environmental stress early in embryologic development has been suggested as a possible factor. The apparent mechanism is a slowing of pregastrulation oxidation with resultant focal developmental arrests.

A note on the epidemiology of acardiac monsters.

The literature on acardiac monsters has been reviewed. The following conclusions were drawn: 1. The probability of their appearance seems considerably higher among monoamniotic than diamniotic monochorionic twin pairs. 2. They seem more likely to occur within monozygotic (MZ) pairs in higher multiple births than in MZ twins. 3. The data are consistent with the suggestion that there is a slight female excess among them.

Descriptive epidemiology of neural tube defects, Rochester, New York, 1918-1938.

This study examines the secular distribution of births, sex, and age at death of 330 cases of anencephaly and spina bifida and 62 cases of "monstrosity" recorded on City of Rochester death certificates between 1918 and 1938. The results show that death certificates may be used as a source of data (with inherent biases) and that persons diagnosed as monstrosity had similar epidemiologic characteristics to those diagnosed as anencephalic during this period. In Rochester the rise in prevalence at birth of neural tube defects was similar to, and occurred at approximately the same years as, the rises reported in Boston and Providence.

Epidemic of conjoined twins in Southern Africa?

Eleven sets of conjoined twins have been born in Southern Africa in a period of just over twelve months. Analysis of the circumstance pertaining to the conception and delivery of these children revealed considerable ethnic, geographic, and socioeconomic differences. It is possible that a ubiquitous environmental agent is a precipitating factor in this situation.