Prenatal ultrasound diagnosis of Apert's syndrome

A mother affected with Apert's syndrome was diagnosed by ultrasound scan at 16–17 weeks to have a fetus similarly affected. The typical features of acrocephaly and symmetrical syndactyly were seen. This is probably the first time that this condition has been diagnosed at such a gestation by ultrasound scan. The patient decided to continue the pregnancy, and intrauterine death occurred at 34 weeks. The diagnosis was confirmed by pathological examination.     

Prenatal diagnosis of gastrointestinal obstruction: A correlation between prenatal ultrasonic findings and postnatal operative findings

The impact of prenatal sonographic diagnosis of oesophageal and gastrointestinal obstructions has been analysed over a 10-year period. Three groups of patients were evaluated. The first group consisted of 46 newborns with abnormal prenatal sonogratns, 41 of which were confirmed to have intestinal obstruction postnatally. The second group consisted of 17 neonates with normal prenatal sonograms who had intestinal obstruction postnatally. The third group included 56 newborns who did not undergo a prenatal sonogram but who had intestinal obstruction confirmed at surgery. Polyhydramnios without the appearance of a stomach on ultrasound was diagnostic of pure oesophageal atresia. Polyhydramnios with intestinal dilation was diagnostic of intestinal obstruction. Although surgery was performed earlier in the infants diagnosed prenatally with ultrasound, mortality was no less than in the group that did not undergo a prenatal sonogram, probably because of the high incidence of associated anomalies.     

Characterization of marker chromosomes by microdissection and fluorescence in situ hybridization

We characterized by microdissection and fluorescence in situ hybridization (FISH) two marker chromosomes: (1) a de novo, acrocentric marker chromosome detected in 88 per cent of the amniotic fluid cells of one of two physically and developmentally normal twins; and (2) a metacentric marker chromosome present in a phenotypically normal female. Analysis of FISH probes developed from the marker chromosomes indicated that the marker chromosomes in cases 1 and 2 were del(14)(q11) and a derivative chromosome from a Robertsonian translocation, respectively. Microdissection in combination with FISH may prove to be a valuable technique in determining the chromosomal origin of de novo marker chromosomes and unbalanced structural rearrangements detected during prenatal diagnosis.     

Basic proteins in serratia marcescens

The Science of Nature -     

XII Ecdysone Workshop July 22–26, 1996 Barcelona,Spain

XII Ecdysone Workshop July 22–26, 1996 Barcelona, Spain     

Prevalence and clinical significance of anticardiolipin antibodies in pregnancies complicated by parvovirus B19 infection

Anticardiolipin antibodies were measured in 60 pregnant women with acute parvovirus B19 infection. Test results for eight (13.3 per cent) women were positive for anticardiolipin antibody. Six of these eight women became negative later, yielding a prevalence of anticardiolipin antibodies of 3.3 per cent (2/60) 6 months after acute parvovirus B19 infection. Anticardiolipin antibody positivity was not associated with an increased risk of abortion, fetal death, or maternal complications. This study suggests that there is an elevated frequency of anticardiolipin antibodies in pregnant women with acute parvovirus B19, probably representing an epiphenomenon. However, this is not associated with an adverse maternal or perinatal outcome.