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Biomedical subjects

S Elias

Publications and source records attributed to S Elias.

At least 145 records · Page 8Linked to original sources
PubMed1988

HLA sharing and fertility in Hutterite couples: evidence for prenatal selection against compatible fetuses.

Antigenic differences between mother and fetus (i.e., blood group incompatibilities) were traditionally considered deleterious for viviparous reproduction. Recently, evidence has accumulated suggesting that maternal response to paternally derived fetal antigens, paradoxically, may facilitate maintenance of pregnancy. Thus, fetuses whose paternally derived antigens do not differ from maternal antigens (i.e., histocompatible pregnancies) may be at a selective disadvantage during pregnancy. Parents sharing histocompatibility antigens (i.e., HLA) may produce compatible fetuses and show overall reduced fertility. Indeed, increased HLA sharing has been reported in some couples experiencing repetitive spontaneous abortion. However, the effects of HLA sharing in couples not selected because of previous pregnancy losses have not been assessed. To elucidate the reproductive effects of maternal-fetal histocompatibility, we initiated prospective population-based studies of parental HLA sharing and reproductive outcome in the Hutterites, a population isolate that lives communally and proscribes contraception. The relationship between HLA-A, -B, and -DR sharing and reproductive outcome was examined in 111 Hutterite couples. Intervals from marriage to each birth were no longer among couples sharing antigens; differences were significant at the second birth and remained significant through the sixth birth (P less than .05). When the effects of sharing at individual loci were examined, HLA-DR was the only individual locus that was a significant predictor of birth interval length (P = .025). Completed family sizes were 6.5 and 9.0 among couples sharing and not sharing HLA-DR, respectively (P = .082, 2-tailed). However, recognized fetal loss rates did not differ among couples sharing and not sharing antigens.(ABSTRACT TRUNCATED AT 250 WORDS)

Abortion, Habitual↗
PubMed1987

Fibrinopeptide A increases after chorionic villus sampling.

Fibrinopeptide levels were measured in 20 women during transcervical chorionic villus sampling (CVS). Fibrinopeptide A, a sensitive indicator of fibrinogen cleavage by thrombin, significantly increased in five subjects, whereas there was no change in B beta peptide, an indicator of fibrinolysis. The data suggest that modest fibrin formation, uncompensated by fibrinolysis, may be induced in some women by CVS.

Adult↗
PubMed1987

Low maternal serum alpha-fetoprotein and perinatal outcome.

Pregnancy outcome was followed prospectively in women showing maternal serum alpha-fetoprotein values less than 0.4 multiple of the median. Using a radioimmunoassay later shown by others to produce a disproportionate number of low values, we nonetheless detected all three cases of autosomal trisomy (+18, +18, +21) at amniocentesis in 1531 women screened. Although two fetal losses and two autosomal trisomies (trisomy 18) occurred among a subgroup of only 15 women having two values less than 0.25 multiple of the median, fetal losses were in general far less frequent among the 99 women with at least one maternal serum alpha-fetoprotein value less than 0.4 multiple of the median than among women in previous reports. Comparing women with maternal serum alpha-fetoprotein values less than 0.4 multiple of the median against those with normal values (0.4 to 2.49 multiples of the median) also revealed no significant differences with respect to presence or absence of a variety of antepartum or intrapartum complications. Birth weight, gestational age, arterial cord pH, and Apgar scores also failed to differ significantly (one-way analysis of variance, p greater than 0.05). Women with a viable pregnancy who show low maternal serum alpha-fetoprotein values have a more favorable prognosis than previously claimed.

Chromosome Aberrations↗
PubMed1987

Studies of cystic fibrosis in Hutterite families by using linked DNA probes.

Several multigenerational S-leut Hutterite families with cystic fibrosis (CF) were ascertained. Linkage studies with DNA marker loci MET and pJ3.11 (D7S8) were performed to determine whether (1) the CF gene in this inbred population is linked to DNA markers on chromosome 7, as it is in outbred populations of European origins, and (2) ancestral origin(s) of the CF gene could be determined. Our results indicate that the CF gene in Hutterite families segregates with chromosome 7 markers, identified by probes metH and pJ3.11. Thus, the CF mutation in Hutterites is likely to be either at the same locus as or at one closely linked to that reported in outbred populations. Heterozygous carriers could be distinguished from normal homozygous sibs of affected individuals. In the families studied, three different chromosome 7 haplotypes carried the CF mutation, raising the possibility that the CF gene may have been introduced into this population by as many as three different ancestors.

Chromosomes, Human, Pair 7↗
PubMed1987

Prenatal effects of maternal-fetal HLA compatibility.

Both retrospective studies of idiopathic aborters, as well as prospective studies of normal couples, have shown reduced fertility among couples sharing HLA antigens. However, the effects of maternal-fetal histocompatibility on surviving embryos are largely univestigated. We thus prospectively studied 53 healthy, fertile women whose timed pregnancies were verified within 21 days of conception. Maternal-fetal histocompatibility status was determined for HLA-A,-B, and -DR locus antigens. Fetal growth rates were monitored by ultrasound at 8, 12, and 20 weeks gestation. Neonates were weighed, measured (birthlength, chest circumference, head circumference), and examined within 72 h of delivery (116 major and minor anomalies) in standardized fashion by one of two geneticists. Although no significant differences were found between infants compatible and incompatible at the HLA-A or HLA-B locus, significant differences were observed between HLA-DR compatible and incompatible infants for sex ratios (p less than .003) and minor anomaly rates (p less than .05). Although differences in mean birthweights between HLA-DR compatible and incompatible infants were not significant in this sample, HLA-DR compatible infants were on average 200 grams smaller than HLA-DR incompatible infants. We interpret these findings as evidence for selection against histocompatible fetuses throughout gestation, particularly with respect to HLA-DR compatibility. Potential immunologic and genetic mechanisms are discussed.

Adult↗
PubMed1986

Maternal serum alpha-fetoprotein screening: low and high values for detection of genetic abnormalities.

In initiating a maternal serum alpha-fetoprotein screening program, we pursued not only elevated values for the detection of neural tube defects but also low values to detect trisomic fetuses. We detected neural tube defects (0.2%) as expected but were surprised by the efficacy with which low serum alpha-fetoprotein values identified aneuploid fetuses. In 1421 pregnant women, 132 (9.3%) showed maternal serum alpha-fetoprotein values less than 0.4 multiple of the median. After repeat sampling, 57 women still had low values. These 57 women and six others who were too anxious for repeat sampling underwent level I ultrasound examination with the following results: gestational age overestimated by 2 weeks (n = 8), fetal death (n = 1), and no explanation (n = 54). Of the 54, 49 underwent amniocentesis with detection of three aneuploid fetuses: trisomy 18 (n = 2) and trisomy 21 (n = 1); maternal ages were 27, 29, and 31 years, respectively. Autosomal aneuploidy did not occur in other women screened. We conclude that low maternal serum alpha-fetoprotein values could efficiently detect aneuploid fetuses, perhaps with greater sensitivity than previously predicted.

Adult↗
PubMed1986

Chorionic villus sampling in continuing pregnancies. I. Low fetal loss rates in initial 109 cases.

Among the first 150 women who agreed to have chorionic villus sampling after receiving counseling and giving informed consent, 41 proved ineligible. In six (5.5%) of the remaining 109 cases in which chorionic villus sampling was performed, we were unsuccessful in obtaining an adequate amount of villi to permit diagnostic testing. In the single loss, fetal viability was confirmed 2 weeks after sampling; however, fetal death became evident 3 weeks later. In four (3.7%) cases the pregnancies were terminated because of abnormal results, and in one (0.9%) case the pregnancy was electively terminated after normal results. Among the 41 completed pregnancies no anomalies were evident in the infants. There were two premature deliveries; one of these two infants died shortly after birth following premature rupture of the membranes at 29 weeks' gestation. All undelivered cases were progressing normally at the time of submission.

Abortion, Induced↗
PubMed1986

Chorionic villus sampling in continuing pregnancies. II. Cytogenetic reliability.

Cytogenetic analysis was performed on 103 chorionic villus samples. Analysis of the 103 samples revealed six abnormalities. In three of the six the abnormalities were confirmed in fetal or neonatal tissue (47,XY, + 13; 46,XY, t(13q13q); 45,X). In three samples the abnormalities detected were not confirmed; in two of the three the abnormalities were detected only in long-term cultures, whereas in the other samples the abnormality was restricted to direct analysis of the villi after overnight incubation. Our initial experience leads us to conclude that certain abnormalities in chorionic villus sampling may not be indicative of fetal abnormalities; 45,X/46,XX or 45,X/46,XY mosaicism is such a complement. Discrepancies between cytogenetic analysis of intact villi processed soon after sampling and of cells grown in culture can be managed by adhering to several suggested guidelines and by liberal use of confirmatory amniocentesis.

Amniocentesis↗
PubMed1986

Outcome after prenatal detection of a sporadic, unstable translocation t(5;21).

Amniotic fluid cultures from a 37 year old woman showed a sporadic 46,XX,t(5;21)(5qter----5p13 or p14::5pter----5p13 or p14::21p12----21qter) complement. In the majority of metaphases the 5p fragment was attached to the stalks of chromosome 21; however, in 9% of metaphases, the fragment was loosely attached by a 'thread' and in 6% it was completely detached. Silver staining and in situ hybridisation with a homologous ribosomal gene probe, which localises to stalk regions (nucleolar organisers, NOR) of human acrocentric chromosomes, failed to show a reciprocal exchange. Prognosis was uncertain because the possibility that the 5p fragment might have been lost in some cell lines could not be excluded. Nonetheless, the parents elected to continue the pregnancy. The translocation was confirmed in blood specimens obtained both at birth and at 1 year of age and showed similar instability. However, the proband shows no anomalies and is developing normally at 1 year.

Adult↗
PubMed1986

Hypermodal cells, hypomodal cells, and repetitive abortions.

The frequency of neither hypermodal cells (2N = 47) nor hypomodal cells (2N = 45) differed between lymphocytes of individuals experiencing repetitive spontaneous abortions (N = 429) and controls (N = 90). The same conclusion held when data were analyzed according to chromosome involved (sex chromosome, autosome) or other variables (e.g., prior reproductive outcome). A study of this relatively large sample failed to confirm findings of smaller and sometimes uncontrolled studies. Hypermodal cells do not necessarily serve as a clue to meiotic instability and in turn probably do not identify couples at risk for recurrent aneuploidy.

Abortion, Habitual↗
PubMed1985

Chorionic villus sampling for first-trimester prenatal diagnosis: Northwestern University program.

We present our initial experience in developing a chorionic villus sampling program at Northwestern University. In phase 1, we performed chorionic villus sampling in 58 patients prior to elective first-trimester abortion, assessing the reliability and reproducibility of obtaining adequate villus samples and performing cytogenetic analysis by means of both the direct and culture methods. Specimens were categorized according to quality: class I, multiple identifiable villi (n = 20); class II, few villi or villi mixed with decidua (n = 15); class III, no villi (n = 23). There was a positive trend between operator experience, amount of villi obtained, and quality of cytogenetic preparations. In March, 1984, we received Institutional Review Board approval to perform chorionic villus sampling in continuing pregnancies (phase 2). Among the first 20 cases we found two abnormalities (47,XY, + 13; 45,X). The remaining 18 pregnancies were continuing. Recommendations are made for developing a chorionic villus sampling program.

Adolescent↗