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Biomedical subjects

S C Finley

Publications and source records attributed to S C Finley.

At least 19 recordsLinked to original sources
PubMed1992

Nutrient levels in amniotic fluid from women with normal and neural tube defect pregnancies.

We analyzed nutrient levels in amniotic fluid obtained during the second trimester of normal, uncomplicated pregnancies from 221 women who delivered apparently healthy infants and from 8 with neural tube defect (NTD) pregnancies. Folate was measured by microbiological assay, vitamin B12 by a radiobinding method, and zinc, copper and iron by atomic absorption spectrophotometry. We found that the mean amniotic fluid nutrient levels of normal pregnancies were 24.7 nmol/l for folate, 600 pmol/l for vitamin B12, and 1.7, 1.9, and 9.0 mumol/l for zinc, copper and iron, respectively. Amniotic fluid folate, zinc, copper and iron levels of NTD pregnancies were similar to those found during normal pregnancy, however, vitamin B12 levels were markedly lower than those of normal pregnancies.

Adolescent↗
PubMed1991

Management of prenatally detected nonlethal fetal anomalies: is a karyotype of benefit?

The pregnancy outcomes of 155 women who underwent an amniocentesis for a prenatal karyotype after being diagnosed by ultrasound as having one or more nonlethal structural anomalies are presented. Thirty-three (21%) patients were found to have an abnormal karyotype. Knowledge of the prenatal karyotype was useful in the subsequent management of these pregnancies. A pregnancy with a fetal anomaly diagnosed prior to 24 weeks was more likely to be terminated if an abnormal karyotype was also present. In women who were diagnosed as having a fetal anomaly with an abnormal karyotype at 24 weeks or later, only 3 of 13 (23%) infants survived the neonatal period. Knowledge of the karyotype results influenced decisions regarding the place, timing, and route of delivery in these fetuses. In 32 women, (21%) a karyotype was beneficial by avoiding maternal transport, cesarean delivery, and neonatal expenses at a Level III perinatal center.

Abortion, Induced↗
PubMed1990

The relationship between maternal serum and amniotic fluid alpha-fetoprotein in women undergoing early amniocentesis.

alpha-Fetoprotein levels were measured on 148 paired samples from the maternal serum and amniotic fluid in women greater than or equal to age 35, who were undergoing early amniocentesis (12 to 14 weeks) for chromosomal analysis. These 148 women were white, weighed less than 200 pounds, had no serious medical problems, and did not have a fetal abnormality detected by ultrasonography or karyotype analysis. There was a significant rise in the maternal serum alpha-fetoprotein concentration from 12 to 14 weeks' gestation. Amniotic fluid alpha-fetoprotein peaked at 13 weeks and then significantly declined by 14 weeks' gestation. Similar to reports from normal pregnancies at 16 and 17 weeks, we found no correlation between the maternal serum and amniotic fluid alpha-fetoprotein levels between 12 and 14 weeks. Amniotic fluid alpha-fetoprotein levels cannot be predicted by levels in the maternal serum in pregnancies between 12 and 14 weeks' gestation.

Adult↗
PubMed1988

Interstitial deletion of chromosome 1 [del(1)(q25q32)] in an infant with prune belly sequence.

Relatively few cases of deletion 1q have been reported. These cases have been divided into three groups according to assigned breakpoints. They include proximal interstitial, intermediate interstitial, and terminal deletions. We present a male infant with an interstitial deletion of 1q with breakpoints determined by GTG banding as q25 and q32. Comparison with similar case reports suggests common physical features which include microcephaly, growth retardation, developmental delay, clinodactyly, and genital anomalies in affected males. However, no characteristic phenotypic appearance is definable. The infant also presented with prune belly sequence (PBS) with Potter facies. Fetal ascites, as noted in this case on prenatal ultrasound, appears to be an early factor in the pathogenesis of PBS. Therefore, detection of fetal ascites should suggest the presence of the PBS association and the need for more extensive prenatal evaluation.

Cesarean Section↗
PubMed1987

Amniotic fluid alpha-fetoprotein levels and pregnancy outcome.

Elevated and low levels of maternal serum alpha-fetoprotein in the midtrimester of pregnancy have been linked with adverse events in later gestation, such as fetal and neonatal deaths, chromosomal abnormalities, and low birth weight infants. It is not known if this same association with poor pregnancy outcome is also true of amniotic fluid alpha-fetoprotein. In this study, alpha-fetoprotein was obtained from the fluid of 1060 women undergoing genetic amniocentesis for advanced maternal age. Poor pregnancy outcome was defined as (1) a fetal or neonatal death, (2) preterm delivery, or (3) low birth weight infants. Amniotic fluid alpha-fetoprotein was compared to each type of adverse outcome. No significant association with a poor pregnancy outcome in later gestation was noted. Although serum alpha-fetoprotein in the midtrimester of pregnancy may relate to certain poor outcomes in later gestation, midtrimester amniotic fluid alpha-fetoprotein offers no predictive value for the course of events in later gestation.

Amniocentesis↗
PubMed1986

An additional case of Smith-Lemli-Opitz syndrome in a 46,XY infant with female external genitalia.

Ambiguity of the external genitalia has been frequently documented in male patients classified as the Smith-Lemli-Opitz (SLO) syndrome. Four previous case reports suggest that in extreme cases of the SLO syndrome there may be complete lack of development of the male external genitalia even in the presence of a normal male 46,XY karyotype. We present an additional case of a phenotypically female infant with dysmorphic features compatible with SLO syndrome and a 46,XY chromosome complement.

Abnormalities, Multiple↗
PubMed1986

Partial trisomy 6p and partial trisomy 22 resulting from 3:1 meiotic disjunction of maternal (6p;22q) translocation.

A male infant, partially trisomic for a small segment of chromosomes 6 and 22 resulting from a maternal translocation, is described. Comparison of the phenotypic features of the proband with those noted in partial 6p and partial 22 trisomies revealed some common features found in both chromosome anomalies but especially reinforced those features thought to be characteristic of 6p trisomy syndrome.

Abnormalities, Multiple↗
PubMed1985

Decreased levels of amniotic fluid alpha-fetoprotein associated with Down syndrome.

Low maternal serum alpha-fetoprotein levels have been associated with fetal aneuploidies. Amniotic fluid alpha-fetoprotein levels have been reported to be low with Down syndrome (trisomy 21) but not with other fetal trisomies. We compared the amniotic fluid alpha-fetoprotein levels from 25 cases of autosomal trisomy (18 of trisomy 21, four of trisomy 13, three of trisomy 18) diagnosed by midtrimester fetal cytogenetic studies with those from matched, cytogenetically normal pregnancies. With these normal pregnancies used as controls, statistical analyses were performed on the data for all the trisomic fetuses, on the data for trisomy 21 only, and on the data for trisomies 13 and 18 combined. Amniotic fluid alpha-fetoprotein levels were significantly lower in the 25 trisomic cases compared with controls, 0.77 +/- 0.34 versus 1.03 +/- 0.34 mg/dl (p less than 0.001). However, further analysis revealed that the difference was due to the trisomy 21 data alone. In the trisomy 21 cases there was a significant difference for alpha-fetoprotein levels between cases and controls (p less than 0.001), whereas there was no difference for the combined trisomy 13 and 18 cases compared to controls (p greater than 0.40). These findings suggest that the low maternal serum levels of alpha-fetoprotein reported in cases of Down syndrome may be related to reduced amniotic fluid concentrations. However, the reduced maternal serum alpha-fetoprotein levels reportedly associated with trisomies 13 and 18 do not seem to be explained by low amniotic fluid concentrations.

Adult↗
PubMed1985

High resolution cytogenetic evaluation of couples with recurring fetal wastage.

Both high resolution and routine chromosome analyses were used to study couples with a history of two or more spontaneous abortions in early pregnancy. In the 20 couples studied, two of the women were found to have an inversion. One paracentric inversion, (13)(q13.1q22.3), was apparent on routine analysis. The small pericentric inversion (11)(p11.12q12.3), was only detected by high resolution techniques. Given the low yield and increased cost and effort involved, we do not believe that high resolution studies are justified for screening couples with repeated abortions.

Abortion, Habitual↗
PubMed1978

Prenatal detection of the 47, XYY karyotype.

The ethical decisions involved before and after the prenatal diagnosis of a 47, XYY karyotype in the fetus of a 32-year-old woman are discussed. It was decided that the parents should be presented with all the known facts about XYY-associated abnormalities and allowed to choose whether pregnancy should continue; the physician's role would be to support them in their decision and help them carry it out.

Adult↗
PubMed1978

Genetic counseling.

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Chromosome Aberrations↗
PubMed1977

Participants' reaction to amniocentesis and prenatal genetic studies.

Little is known about the effect of amniocentesis and prenatal diagnosis of genetic disease on couples undergoing such studies. A questionnaire was composed to evaluate, among other things, the reason for referral, attitudes and concerns of the pregnant woman and her husband toward prenatal study, and suggestions for improving the experience. Of 315 women referred to this unit for this purpose, 196 have had time to complete their pregnancy and were mailed the questionnaire; 157 (80%) of the latter responded. The majority of the women found the experience reassuring, would recommend it to others, and would seek it again themselves with a subsequent pregnancy.

Amniocentesis↗
PubMed1976

Karyology of primary human fetal cell cultures.

Cell cultures were established from the biopsies of lung, skin and kidney from each of nine human fetuses, and chromosome analyses were performed on material through the fifth subculture. Kidney cell cultures generally showed a higher level of polyploidy than lung or skin. The frequencies of hyperdiploid cells and those with structural abnormalities were consistent with the low levels found in cultures of human lymphocytes. The data provide a normal cytogenetic baseline for human fetal material which may be useful in a variety of studies.

Cells, Cultured↗