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PubMed2001

[Amniocentesis and chorionic villi biopsy. A 10-year material].

PURPOSE: The aim of the study was to evaluate the prenatal diagnosis at a secondary referral hospital. METHOD: A retrospective study was carried out on 1752 women examined by amniocentesis (AC) (n = 1037) or chorion villus sampling (CVS) (n = 715) at Randers Centralsygehus from 1 April 1987 to 31 December 1996. RESULTS: A cytogenetic diagnosis was made in 99.8% of the AC group and 99.4% of the CVS group. Complications, recorded as either spontaneous abortion, bleeding/threatening abortion, pain/contractions or amniotic fluid leakage, were seen in 1.9%, 3.3%, 2.9%, and 2.3% after AC and 1.8%, 7.3%, 3.4%, and 0% after CVS. There were significantly more re-examinations after CVS when the procedure was carried out by less experienced operators (p < 0.003), whereas experience did not influence the number of re-examinations after AC (p = 0.8). CONCLUSION: The frequency of complications during prenatal procedures performed over a period of ten years was comparable with that reported in other studies. It is expedient and safe to perform prenatal examinations at a secondary referral hospital where currently 200 procedures are performed each year.

Adult↗
PubMed1994

Clinical utility of fetal RhD typing in alloimmunized pregnancies by means of polymerase chain reaction on amniocytes or chorionic villi.

OBJECTIVE: Our purpose was to describe the clinical utility of a deoxyribonucleic acid amplification method for determining fetal RhD status in alloimmunized pregnancies STUDY DESIGN: Six RhD-negative women with alloimmunized pregnancies and heterozygous partners underwent amniocentesis (n = 5) or chorionic villus sampling (n = 1). Fetal RhD type was determined by polymerase chain reaction and results disclosed to the attending physicians. RESULTS: Knowledge of the fetal RhD status avoided further invasive procedures in two pregnancies and facilitated the timing or performance of intrauterine transfusions in the remainder. CONCLUSIONS: In alloimmunized pregnancies the ability to RhD-type the fetus in amniotic fluid avoids the risks of fetomaternal hemorrhage and increased sensitization associated with fetal blood sampling or chorionic biopsy. This allows more rational pregnancy management, avoiding invasive procedures in the presence of an RhD-negative fetus, or planning therapeutic interventions or offering termination of pregnancy in the presence of an RhD-positive fetus.

Amniotic Fluid↗
PubMed1989

Prenatal diagnosis of 3-hydroxy-3-methylglutaric aciduria by GC-MS and enzymology on cultured amniocytes and chorionic villi.

This paper reports the prenatal diagnosis of HMG CoA lyase deficiency at 16 weeks' gestation by direct chemical analysis of cell-free amniotic fluid and by measurement of HMG CoA lyase activity in cultured amniocytes. Termination of an affected fetus allowed study of chorionic villus tissue, the results providing the basis for future first trimester prenatal diagnoses of this condition. An abstract report of this work has appeared elsewhere.

Amino Acid Metabolism, Inborn Errors↗
PubMed1989

Gene mapping on chorionic villi chromosomes by hybridization in situ: localization of cholinesterase cDNA binding sites to chromosomes 3q21, 3q26-ter and 16q21.

To adapt the in-situ hybridization approach for use in very early fetal development, comparative in-situ hybridization was initiated on chromosomes from chorionic villus sampling (CVS). An additional aim was to refine the localization of the chromosomal sites binding butyrylcholinesterase (BuChE) cDNA by mapping them in parallel to previously mapped genes of close locations. BuChEcDNA was previously found to bind to the long arms of lymphocyte chromosomes 3 and 16, with a wide distribution of grains suggesting two separate sites on chromosome 3. When labelled with 35S and hybridized with CVS chromosomes, BuChEcDNA was bound to three distinct sites, designated CHEL1, CHEL2 and CHEL3. These peaked at 3q21, 3q26-ter and 16q21 respectively. Parallel hybridization with the cDNA encoding transferrin receptor (TFRC) refined its localization to 3q29, in agreement with previously published results and in a distal position to CHEL2, whereas haptoglobin cDNA (HPcDNA) was correctly mapped at 16q24, distal to CHEL3. In view of the published genetic linkage between the CHEL1 locus and the transferrin TF gene on 3q25, this study suggests that one of the three sites carrying BuChE-coding sequences, namely CHEL2, harbours the functional CHEL1 gene. Thus, in-situ hybridization provides a rapid and precise method for the localization of genes on CVS chromosomes, in comparison with known DNA markers.

Binding Sites↗
PubMed1989

Chorionic villi sampling for early prenatal diagnosis: an option for the Jewish orthodox community.

The Jewish religion permits abortion up to 40 days after conception. To accommodate the Jewish orthodox community, prenatal diagnosis in the eighth gestational week may be a feasible goal with clear benefits. We present our experience with chorionic villus sampling (CVS), wherein out of 144 patients requesting CVS, 125 were found to be suitable for the procedure. Excluding patients with fundal placenta and cervical or uterine myoma, chorionic sampling was successfully performed on 102 out of 106 patients (96.2%) and a chromosome result was available for 98 of those patients (96%). Fetal losses, within 14 days following procedure, were 2 out of 125 (1.6%). No complications were encountered following the procedure. The cytogenetic analysis was improved by culturing CVS fragments for 48 h, after which clearer banding patterns could be observed. One of the CVS preparations, from a 7.2/7-week-old embryo was successfully examined. Short-term (6 days) cultures were used as an additional method for chromosome analysis, to extend and confirm results obtained by the direct method.

Abortion, Spontaneous↗