Anne E. Greb

Learn More
Parental decisions concerning the continuation of pregnancy following prenatal detection of abnormal chromosomes were evaluated for 80 patients whose diagnosis and prenatal counselling were performed in our centre. Twenty-two anomalies were diagnosed by chorionic villus sampling (CVS) and 58 by amniocentesis. The severity of the chromosome anomaly and(More)
The association between umbilical cord anomalies and chromosomal abnormalities has received little attention in the literature. In this report, we present two cases of umbilical cord pseudocyst incidentally detected by ultrasound prior to genetic amniocentesis performed for the indication of advanced maternal age. In the first case it was only the initial(More)
Determinants of patients' decisions to have prenatal diagnosis, and by which test (amniocentesis or chorionic villus sampling), is not well understood. We have administered questionnaires to couples referred for genetic counseling and procedures for advanced maternal age and determined patients' responses, decisions, and attributable determinants of their(More)
We have studied a three-generation family in which Norrie disease is segregating and have performed prenatal diagnosis on the fetus of an obligatory carrier. Deletions at loci DXS7 and DXS77 defined by probes L1.28, L1.28-p59, and pX59 were detected in the affected male. DNA studies of chorionic villus biopsy material indicated that the male fetus had(More)
DNA methods to diagnose Duchenne muscular dystrophy (DMD) are not always informative, and we have published previously the first instance of in utero muscle biopsy to assess dystrophin in a male fetus having the same "X" as an affected sib. We present here a female fetus with a de novo X,1 translocation with breakpoint at Xp21, detected on amniocentesis for(More)
Deoxyribonucleic acid techniques can be used to diagnose Duchenne muscular dystrophy prenatally in male fetuses that are at risk. Deoxyribonucleic acid-based prenatal diagnosis can be impossible when there is only one prior affected male and there is no identifiable deletion or alteration. We performed fetal muscle biopsy in utero in such a case and(More)
PURPOSE To determine whether specific knowledge and skills medical students acquire after completing a Year 1 genetics course are retained at the end of Year 3. METHODS A genetics case was developed for an observed structured clinical exam at the end of Year 3. The case involved a pregnant patient who underwent population screening for cystic fibrosis and(More)
We evaluated the completeness and accuracy of reporting on Wisconsin fetal death report forms (FDF) through case by case comparison with data from the Wisconsin Stillbirth Service Project (WiSSP), which uses extensive protocols for etiologic investigation of stillborns. Fetal deaths are underreported: no FDF was submitted for 17.8 per cent of fetal deaths(More)
Nonsyndromal omphalocele is generally regarded as a sporadic malformation. Recurrence risk is considered negligible. We report on a patient in whom 5 consecutive pregnancies (by 2 separate nonconsanguineous partners) were complicated by omphalocele as an isolated defect. Neither the patient nor her partners had history of relatives with omphalocele,(More)
In common usage, a low maternal serum alpha-fetoprotein (MSAFP) value is associated with an increased risk of Down syndrome. We have performed amniocenteses for the indication of age-adjusted low MSAFP in 1154 patients and found 13 chromosomally abnormal conceptions. Autosomal trisomies were detected in half the cases. Additional abnormalities included(More)