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Biomedical subjects

A Milunsky

Publications and source records attributed to A Milunsky.

At least 109 records · Page 6Linked to original sources
PubMed1985

First-trimester drug use and congenital disorders.

The authors determined the prevalence of certain major congenital disorders among live-born infants of 6509 mothers in a prepaid health plan for the 30-month period of January 1, 1980 through June 30, 1982 who used a wide variety of drugs during the first trimester of pregnancy. The results were similar to those obtained in this population in a prior 30-month study. No strong associations between any of the commonly used drugs and the congenital disorders studied were present.

Abnormalities, Drug-Induced↗
PubMed1984

Results and benefits of a maternal serum alpha-fetoprotein screening program.

Maternal serum alpha-fetoprotein (MSAFP) screening was offered in a private suburban practice to 21,000 nondiabetic and 442 diabetic women with apparently normal pregnancies. Using 2.5 or greater multiples of the median as the normal upper limit, 249 (1.2%) had a raised MSAFP level. There were 25 neural tube defects (NTDs) (1.2/1,000 births); 18 were detected by screening and two by ultrasound scanning. Three had closed spina bifida lesions. Two had anencephaly with normal MSAFP levels, but were studied at more than 24 weeks' gestation. An additional 13 with raised MSAFP levels had other congenital defects. One in 400 women screened had a recommended amniocentesis; 26.4% of them had a fetus with an NTD or major malformation. Our detection efficiency before 24 weeks' gestation for anencephaly was 85.7% (12/14), 62.5% (5/8) for open and closed spina bifida, and 1/1 for encephalocele. A raised MSAFP level occurred in ten (2.3%) of the 442 diabetic women, four (0.9%) of whom had a fetus with an open NTS. A screening program should be established only where there is linked excellent interdisciplinary support among obstetrician, laboratory, clinical geneticist, ultrasonographer, and an identified program coordinator.

Congenital Abnormalities↗
PubMed1984

Elevated alpha-fetoprotein and acetylcholinesterase associated with hydrocele.

Elevated amniotic fluid alpha-fetoprotein and presence of acetylcholinesterase were detected in a pregnancy that resulted in an infant whose only abnormality was a hydrocele. Although these amniotic fluid findings are usually indicative of a serious fetal anomaly, our report indicates that this is not always the case.

Acetylcholinesterase↗
PubMed1983

Vitamin A and retinol-binding protein in amniotic fluid.

Amniotic fluid and serum samples that had been obtained from mothers at 10 to 33 wk of gestation were analyzed for retinol and retinol-binding protein. No difference was found in serum retinol with advancing gestation. The concentration of retinol in amniotic fluid from 20 wk onward was significantly greater than at 16 to 18 wk. No esters of retinol and no carotenoids were detected in amniotic fluid. Serum and amniotic fluid samples from the same mothers were significantly correlated for retinol (p less than 0.02). Retinol-binding protein, detected by radial immunodiffusion, was found in amniotic fluid in molar excess of, and significantly (p less than 0.001) correlated with, retinol in amniotic fluid. Retinol in amniotic fluid obtained at 16 to 18 wk from pregnancies that ended in anencephaly or other congenital defects ranged from 2.3 to 18.0 micrograms/dl. The range of amniotic fluid values in abnormal pregnancy precludes using retinol or retinol-binding protein as a marker in prenatal diagnosis of abnormalities.

Amniotic Fluid↗
PubMed1982

Prenatal diagnosis of neural tube defects. VIII. The importance of serum alpha-fetoprotein screening in diabetic pregnant women.

Maternal serum alpha-fetoprotein (AFP) screening of routine pregnancy is a valuable tool for the prenatal detection of neural tube defects (NTDs). Against our background experience with greater than 24,000 screened pregnancies, we have studied 411 pregnant insulin-dependent diabetic women. More than a tenfold increase (19.5/1,000) in the frequency of NTDs was observed in the offspring of these diabetic patients (p less than 0.000001). Serum AFP values were lower in diabetic than in nondiabetic women. Our data indicate that the normal standard of care for diabetic pregnancy should include serum AFP screening.

Female↗
PubMed1982

Fetal malformations and environmental influences. A perspective.

In western society, congenital malformations and genetic disorders have assumed much greater importance as causes of early morbidity and mortality, with the waning of infectious diseases. The personal and societal burden arising as a consequence is an important public health problem. Approximately 25-30% of admissions to major childrens' hospitals in the western hemisphere are for children with one of these disorders. About 3-4% of all births are associated with a major congenital malformation, genetic disorder, or mental retardation. For congenital malformations and mental retardation in particular, the causes may not be discernible in about two-thirds of cases. Clearly defined or suspected genetic origins have been delineated in almost 3,000 catalogued disorders, and many are thought to occur as a consequence of environmental/genetic interaction. The purpose of this paper is to provide some perspective on the influence of environmental factors in the etiology of congenital malformations.

Amniotic Fluid↗
PubMed1982

Prenatal diagnosis of open neural tube defects using the amniotic fluid acetylcholinesterase assay.

The most reliable tool at present for the prenatal detection of open neural tube defects is the amniotic fluid alpha-fetoprotein assay. Nevertheless its nonspecificity and false-positive results produced by fetal blood admixture and other less well-defined causes have spurred the search for a more specific test. Increased amniotic fluid acetylcholinesterase activity has been reported in association with open neural tube defects. The authors have assayed acetylcholinesterase in second-trimester amniotic fluid samples with previously determined alpha-fetoprotein values from 200 pregnancies with 96.5% of the outcomes known. These pregnancies were selected because of known fetal abnormalities or difficulties in prenatal diagnosis. High alpha-fetoprotein and acetylcholinesterase activity was detected in all 66 cases of open neural tube defects. The authors were able to reclassify correctly 89% of normal pregnancies with spuriously high alpha-fetoprotein by demonstrating no acetylcholinesterase band after slab gel in electrophoresis. Nine cases with a normal outcome but high alpha-fetoprotein values and acetylcholinesterase activity constitute the remaining false-positive results. Notwithstanding the false-positive results, which may have been due to undetected fetal blood admixture, the acetylcholinesterase gel electrophoresis assay is clearly a valuable adjunctive test to the alpha-fetoprotein assay for the prenatal detection of neural tube defects. Although no specific for open neural tube defects, acetylcholinesterase analysis by gel electrophoresis of amniotic fluid is significantly less influenced by fetal blood than is alpha-fetoprotein and, furthermore, may prove as reliable a diagnostic test for open neural tube defect.

Acetylcholinesterase↗
PubMed1980

Prenatal detection of neural tube defects. VI. Experience with 20,000 pregnancies.

Neural tube defects (NTDs) are among the most common major congenital malformations in the United States. Prenatal detection is possible in about 95% of cases by assaying amniotic fluid for alpha-fetoprotein (AFP), which leaks from open lesions. In 20,000 pregnancies, 334 (1.7%) had a raised level of AFP. Of these, 136 (40.7%) had open NTDs, 90 (26.9%) had other fetal defects or conditions, and 108 (32.3%) almost invariably had admixed fetal blood. Pregnancy was electively terminated in 11 cases in which the AFP concentration was thought to be elevated but in which the fetus was apparently normal (0.06%), but in only two of these cases was there no explanation for the raised level of AFP. The practical false-positive rate was considerably below 0.06%. Patients at risk for bearing children with NTDs should be counseled and offered prenatal diagnosis.

Amniotic Fluid↗
PubMed1980

Microenzymatic assays for lysosomal enzymes in primary amniotic fluid cell cultures.

A study of three lysosomal enzymes (hexosaminidase, beta-galactosidase and alpha-galactosidase) in normal primary amniotic fluid cell cultures using a microenzymatic assay is presented. No difference in enzyme activity was found between primary and amniotic cell cultures in passage number one. A progressive change in the proportions of hexosaminidase A and hexosaminidase B with time was demonstrated in culture. The feasibility of this procedure for the early prenatal diagnosis of disorders due to lysosomal enzyme deficiency is discussed.

Amniotic Fluid↗
PubMed1980

Prenatal diagnosis of neural tube defects. V. The value of amniotic fluid cholinesterase studies.

Total cholinesterase activity in amniotic fluid obtained from 150 fetuses was measured. Elevated values were found in 94% of samples from fetuses known to have neural tube defects (spina bifida, anencephaly) when compared to nonbloody samples from normal fetuses. Contamination of amniotic fluid with blood was observed to elevate total cholinesterase activity in some, but not all, such specimens. Total cholinesterase activity did not vary with gestational age between 15 and 24 weeks. These data were compared to our large alpha-fetoprotein (AFP) assay experience used for the prenatal detection of neural tube defects. We concluded that the assay of total cholinesterase activity in amniotic fluid could be a useful adjunct to the AFP assay, especially in those samples contaminated with blood.

Amniotic Fluid↗