We investigated the use of amniocentesis performed at eight to 14 weeks' gestation as a possible alternative to chorionic villus sampling. Patients, methods, and results Samples of amniotic fluid were taken from 40 gestation, and the mean time to the cells being harvested was 12 6 days. In contrast only 17 (68%) of the 25 samples taken at eight to 11 weeks yielded a result. One sample taken at 13 weeks' gestation yielded a female karyotype, whereas the fetal parts revealed a male karyotype; the sample was subsequently identified as maternal urine. The mean volume of amniotic fluid obtained was 13 9 ml (range 1-40 ml).
CommentAll 15 samples taken at 12-14 weeks' gestation yielded a result. The mean time to cells being harvested in this group (12-6 days) compared favourably with the current mean of 11 days for the samples obtained routinely at [16][17][18][19] weeks that are processed by our laboratory. Culture of all the 5 ml aliquots obtained at 12-14 weeks was successful. Thus a 10 ml sample would provide two cultures, which are necessary for the interpretation of equivocal results and in case of microbial infection.In one case, a urine sample was obtained at 13 weeks' gestation from an obese patient in whom imaging was poor. In a clinical environment sampling would not have been attempted, and this patient would have been recalled later.Our results show that amniocentesis from as early as 12 weeks' gestation can provide sufficient material for cytogenetic diagnosis and could be offered as an alternative to current methods of prenatal diagnosis. Furthermore, the procedure could be carried out by doctors already familiar with the technique, using existing resources. Patients must, however, be advised that the risks of this procedure are unknown. Preliminary reports from the United States suggest that early amniocentesis is safer than chorionic villus sampling.24 Further evaluation, preferably by means of a randomised trial, is urgently needed. We are continuing our investigation of amniocentesis before 12 weeks with the aim of bringing the procedure forward into the first trimester of pregnancy.We acknowledge contributions to the study from Mr N Fisk, Mr P Reginald, Mr M Michel, and Mrs R Rebello.
Ectrodactyly is a rare condition characterized by absence of digits, ranging from single absence of a finger to the split hand/foot deformity. This anomaly has been reported as sporadic and in association with a number of genetic and non-genetic syndromes, such as the autosomal dominant ectrodactyly and the ectrodactyly-ectodermal dysplasia-cleft palate (EEC) syndromes. In this report we present two cases of ectrodactyly prenatally diagnosed by ultrasonography during the second trimester of pregnancy. Routine examination of fetal hands and feet during second-trimester ultrasonography should make the detection of hand and foot malformations more frequent.
A fetus with severe sacral agenesis and intrauterine growth retardation, ascertained at prenatal diagnosis, was found to be carrying an unbalanced form of a paternal balanced reciprocal translocation (7;19)(q36.1;q13.43), resulting in functional monosomy for 7q36.1--qter. Necropsy confirmed that the fetus had isolated sacral agenesis type II. A critical region for autosomal dominant sacral agenesis has recently been mapped to the 7q36 region. This case provides firther evidence for a sacral agenesis locus in this region and may help to refine the critical region further.
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