Fetal exsanguination following intrauterine angiographic assessment and selective termination of a hydrocephalic,monozygotic co-twin

Selective termination by intracardiac potassium chloride injection was performed in twins discordant for hydrocephaly at 20 weeks' gestation. Because of the potential for vascular anastomoses to exist between the twins, fetal angiography was performed prior to the selective termination procedure. Determination of vascular connections between the fetuses was hindered by fetal bradycardia following intracardiac administration of contrast material. Selective termination was performed without difficulty using intracardiac potassium chloride (KCl) to produce asystole in the twin with hydrocephaly. The unaffected fetus appeared active and had a normal heart rate during and immediately after the procedure. However, both twins were found to have died the following day. Pathologic examination documented several vascular anastomoses between the monochorionic, diamniotic fetuses. A likely cause of death was exsanguination of the normal twin into the abnormal one. This case illustrates the difficulties encountered in selective termination of monozygotic twins and, to our knowledge, represents the first reported use of intrauterine fetal angiography.     

A 1 and 6 month follow-up of prenatal diagnosis patients who lost pregnancies

This paper reports results of an exploratory study of prenatal diagnosis patients who experienced voluntary terminations of pregnancy following the detection of an abnormality or spontaneous miscarriages. The 121 participants were part of the national collaborative Chorionic Villus Sampling and Amniocentesis Study. They completed semi-structured telephone interviews and mailed questionnaires at 1 month and 6 months after the pregnancy losses. Scores on the Profile of Mood States showed that mood levels improved significantly over time. However, there were some declines in loss-related support from partners and others. The persisting distress and difficulties of a minority highlight the variability in women's responses to pregnancy losses. Women who lost pregnancies later in gestation, showed the greatest mood disturbances at initial assessments, used professional mental health assistance after the loss, or reported less satisfactory loss-related support from significant others showed the greatest levels of mood disturbance at the six-month assessment. Follow-up contacts with patients who lose pregnancies should be used to inform women about the variation in possible grief reactions, to assess the extent of support the women are receiving from their partners and significant others, and to provide additional follow-up or referral of those experiencing the greatest distress.     

Decision making during the prenatal diagnostic procedure. A questionnaire and interview study of 211 women participating in prenatal diagnosis

Counselling in connection with prenatal diagnosis (PND) is a common task for the obstetrician and the midwife. However, the decision making processes of pregnant women are not completely known, for instance, the questions of women's autonomy, the decision on how to act in the case of an abnormal test, and the partner's participation in the decision. A questionnaire and interview study was carried out among 211 women undergoing PND by amniocentesis or chorionic villus biopsy. Most women in the sample indicated that PND was completely voluntary. However, at the same time almost every woman reported that it was difficult to decline from PND when offered. Even before the visit to register at the antenatal clinic, most of the women (83 per cent) had made up their minds to have PND. At the time of the test, many of the participants (62 per cent) had decided in favour of a legal abortion if the test indicated an abnormality in the fetus. At the same time, however, the data indicate a need for reflection and ambivalence, which the medical staff have to accept. In the questionnaire most of the women stated that they and their partners had similar attitudes towards PND, but when interviewed 38 per cent of the women admitted some differences between their own attitudes and their partners'. Although some women reported considerable deliberation and ambivalence, most of them said that they would undergo PND in another pregnancy.     

Trisomy 7 in chorionic villi: Follow-up studies of pregnancy,normal child,and placental clonal anomalies

Cytogenetic study of chorionic villi sampled because of advanced maternal age revealed, after overnight culture, an apparently non-mosaic trisomy 7. Amniocentesis showed exclusively normal mitoses, and the pregnancy continued normally. One hundred mitoses from cord blood of the normal newborn revealed a non-mosaic 46,XX complement. No cells with a proven trisomy 7 were found in cultures from either of two biopsies of the morphologically normal placenta, but the peripheral biopsy showed in multiple cultures an abnormal clone: 47,XX, + 20,-2,-21, + t(2;21)(p13;q22). To our knowledge, this is the first case of non-mosaic trisomy 7 detected on CVS which has had follow-up studies of amniotic fluid, cord blood, and term placenta.     

Prenatal diagnosis of cystinosis utilizing chorionic villus sampling

The prenatal diagnosis of cystinosis is currently based on the increased amount of free-cystine present in amniotic fluid cells. Amniocyte cultures must be grown for at least 2 weeks to obtain sufficient cells for such measurements. Thus, the diagnosis cannot be made until close to 20 weeks gestational age by this method. We report a case in which chorionic villi were used for direct cystine measurement resulting in the in utero diagnosis of cystinosis at 9 weeks gestational age. The diagnosis was confirmed by the study of cultured chorionic villus cells, and of the 10-week abortus.     

The importance of chorionic villus sampling after first trimester diagnosis of cystic hygroma

The prenatal diagnosis of The Turner Syndrome is described at a menstrual age of 12 weeks. Detection of cystic hygroma was followed by vaginal chorionic villous sampling (CVS) which revealed a 45,X karyotype. Early documentation of fetal karyotype in the presence of a cystic hygroma is essential for accurate diagnosis and genetic counselling.     

Prenatal diagnosis of a true mosaic trisomy 20 substantiated by demonstration of a gene dosage effect for adenosine deaminase (ADA)

Fibroblasts from a fetus with the prenatal diagnosis of mosaic trisomy 20 were cloned by dilution plating. Adenosine deaminase (ADA), a biochemical marker for chromosome 20, was assayed in trisomic clones and normal clones as control. The cytogenetic diagnosis was substantiated by demonstration of a triplex gene dosage effect for ADA in the trisomic cells.