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Biomedical subjects

A Drugan

Publications and source records attributed to A Drugan.

At least 55 records · Page 3Linked to original sources
PubMed1990

Selective termination: clinical experience and residual risks.

Assisted reproductive technologies have aided thousands of couples, but complications have resulted in multifetal pregnancies creating a bitter irony for infertility patients. In an effort to increase the rate of intact survival, we have successfully performed transabdominal first-trimester selective termination procedures on 22 pregnancies including one octuplet, five quintuplet, twelve quadruplet, and four triplet gestations. There have been eight sets of twins, and two singletons delivered, seven twin pregnancies are ongoing, and one early and four late losses of pregnancies. With experience we now counsel as to a high likelihood of a technically successful procedure, but we still have concerns for late losses. We have tried to balance the arguments about the direct harms of performing selective termination and the obstetric risks of not performing selective termination. We believe that selective termination should not be considered a "social" procedure. Our data do not yet make clear whether one, two, or three is the optimal number of embryos to leave. Therefore, on the basis of both current obstetric risk factors and ethical reasoning we will continue to support our protocol of optimally leaving twins.

Abortion, Induced↗
PubMed1990

Combined ultrasonography and amniocentesis for pregnant women with elevated serum alpha-fetoprotein. Revising the risk estimate.

A combination of ultrasound and amniocentesis for alpha-fetoprotein (AFP) and acetylcholinesterase (ACHE) identified 36 anomalous fetuses among 331 pregnant women evaluated at our center for "true" elevated maternal serum alpha-fetoprotein (MSAFP). In six cases the diagnosis of fetal anomalies was missed on initial ultrasonography. In addition, placental pathology was identified in 12 cases and adverse outcome (fetal demise, intrauterine growth retardation, severe oligohydramnios) in 15. When grouped by multiples of the median (MOM), a significant linear correlation was observed between increasing MSAFP and the rate of fetal anomalies or adverse outcome. The frequency of fetal anomalies increased from 0.93% when MSAFP was less than 3.0 MOM to 56% when MSAFP was greater than 7.5 MOM. No differences were observed in the frequency of placental pathology between the groups. A normal ultrasound study in these patients will decrease considerably, but not eliminate, the risk estimate for undetected fetal anomalies. From our 83% ultrasound sensitivity we calculate that with MSAFP greater than 3.0 MOM the risk of anomalies despite a reassuring scan is greater than 1% and clearly warrants offering amniocentesis for amniotic fluid AFP and ACHE. Between 2.5 and 3.0 MOM the risk is relatively low. Amniocentesis should be offered routinely to patients with MSAFP greater than 3.0 MOM and normal ultrasonography. In patients with MSAFP of 2.5-2.9 MOM and satisfactory ultrasonography the risk of amniocentesis may outweigh its benefits.

Acetylcholinesterase↗
PubMed1990

Preconceptional planning.

Preconceptional counseling has become an important part of obstetrical care. The concept of preconceptional planning is discussed in detail, with an emphasis on particular high-risk groups. The role of genetics and fetal diagnosis is also examined.

Adult↗
PubMed1990

Metabolic control of von Gierke disease (glycogen storage disease type Ia) in pregnancy: maintenance of euglycemia with cornstarch.

In patients with glycogen storage disease type Ia, glucose-6-phosphatase deficiency reduces the liver's ability to generate free glucose from glycogen. Without a continuous, exogenous source of glucose, severe hypoglycemia and subsequent metabolic perturbations occur. Our observations of a patient with glycogen storage disease type Ia, who also had a clomiphene-induced triplet gestation, suggest that cornstarch, which can be catabolized by debranching enzymes, may be used to maintain a constant state of maternal and fetal euglycemia and correct many metabolic abnormalities. Our data suggest that patients with glycogen storage disease type Ia can be safely managed in pregnancy under a tightly monitored and regulated protocol of raw cornstarch feedings.

Adult↗
PubMed1990

Prenatal genetic diagnosis following recurrent early pregnancy loss.

Recurrent pregnancy loss affects 1% of patients, an incidence higher than expected from the prevalence of spontaneous abortion in the general population. Some couples may show a tendency for aneuploid conceptions. Genetic counseling and amniocentesis or chorionic villus sampling were offered to 305 couples with a history of two or more pregnancy losses and normal parental karyotypes, with no additional known risk factors for aneuploidy. Prenatal diagnostic procedures were performed in 96 pregnancies. Two hundred nine couples declined active intervention, and these pregnancies were followed to delivery. Five chromosomal abnormalities (1.6%) were diagnosed in the study group. A group of 979 prenatal diagnostic procedures performed in "low-risk" pregnancies in Hutzel Hospital was used as controls, and three chromosomal anomalies (0.3%) were diagnosed. That the rate of aneuploid conceptions was statistically significantly (P = .02) higher in low-risk couples experiencing recurrent pregnancy loss than in controls points to a tendency for chromosomal aberrations in their offspring and suggests a place for prenatal diagnosis in subsequent pregnancies.

Abortion, Habitual↗
PubMed1989

Fetal organ and xenograft transplantation.

The use of anencephalic fetuses and neonates as organ donors is technically feasible, and xenografts may be. Several ethical questions emerge, however, involving the appropriate use of such organs and what alterations, if any, in obstetric and neonatal management may be acceptable to increase the availability and likelihood of success of such organs.

Aborted Fetus↗
PubMed1989

Genetic diagnosis in the first trimester: the norm for the 1990s.

Increasing technical capabilities and patient motivation for earlier and more private prenatal genetic diagnosis have allowed us to alter the concept of first-trimester genetic diagnosis from being rare to routine in our tertiary Reproductive Genetics Center. As public awareness of available services has increased, we have seen steadily increasing numbers and proportion of patients who are referred by their physicians earlier, who schedule tests earlier, opting to have earlier testing, and accept slightly higher risks in return for earlier results and privacy. Analysis of our clinical and laboratory results and complication rates suggests that first-trimester genetic diagnosis by either chorionic villus sampling or early amniocentesis may be offered to virtually all patients who would be candidates in the midtrimester. We believe that this trend will accelerate, making first-trimester diagnosis the norm, rather than the exception, for the 1990s.

Acetylcholinesterase↗
PubMed1989

Aneuploidy with neural tube defects: another reason for complete evaluation in patients with suspected ultrasound anomalies or elevated maternal serum alpha-fetoprotein.

Some recent reports have suggested that invasive testing is unnecessary when ultrasound either confirms or refutes a neural tube defect (NTD). However, counseling for recurrence risks and the possibilities for in utero therapy would be significantly altered by an aneuploid karyotype. We report our experience with 53 pregnancies affected by NTD in which we found 13.2% of these fetuses with abnormal chromosomes. In view of the higher than previously published incidence of aneuploidy, we believe that fetal karyotypes are essential in the evaluation of all fetuses with NTDs.

Aneuploidy↗
PubMed1989

Symmetrical intrauterine growth retardation is not symmetrical: organ-specific gravimetric deficits in midtrimester and neonatal trisomy 18.

Models to predict normal fetal growth have been of limited accuracy. Abnormal growth is even more problematic. We have developed a mathematical modeling system based on observed body and brain weights to study fetal growth patterns in midgestational trisomy 18 fetuses. Third-degree polynomial-based analysis using observed fetal body and brain weights to generate predicted weights for various organ systems allows for the comparative study of growth patterns at various fetal weights and gestational ages. Our data suggest that what has been previously called symmetrical intrauterine growth retardation associated with aneuploid fetuses is really an asymmetrical pattern that is dynamic in nature and may change through the course of pregnancy.

Body Weight↗
PubMed1989

First trimester maternal serum lysosomal enzymes: implications for carrier testing and prenatal diagnosis.

Carrier detection for lysosomal storage diseases is sometimes possible by evaluating maternal serum levels of specific enzymes. However, lysosomal enzymes (LE) can be modified by maternal hormonal changes in pregnancy or embryonic contributions. Maternal serum was obtained prospectively in the follicular phase and at 2-5 and 7-11 weeks after conception from 13 infertility patients with precisely known ovulation dates. Eleven enzyme activities were determined fluorimetrically using 4-methylumbelliferyl substrates. Using repeated measures ANOVA, alpha-N-acetyl-glucosaminidase (p less than 0.05), hexosaminidase A (p less than 0.005) and hexosaminidase A and B (p less than 0.005) increased during the first trimester, and 8 enzymes did not change significantly. Our data show differing patterns of LE in the first trimester. These may be explained by: (1) variability of maternal reaction to hormonal changes of pregnancy, or (2) variable embryonic contributions suggesting differential ontogeny and placental transfer of these enzymes. The increase in levels of the 3 specific LE in maternal serum may interfere with the accuracy of carrier testing in early pregnancy, but pregnancy should not interfere with the other 8.

Adult↗
PubMed1989

Amniotic fluid alpha-fetoprotein levels in the differential diagnosis of cystic hygroma.

In 7 second trimester pregnancies ultrasound (US) demonstrated cystic hygroma colli (CHC); amniocentesis was performed in 6 patients. In the 7th patient, because of oligohydramnios, the fluid for karyotype was aspirated from the CHC. Five pregnancies had been referred secondary to abnormalities on US and 2 others because of low maternal serum alpha-fetoprotein (MSAFP). Four karyotypes were abnormal (45,X;47,XX+21; 47,XY+21; 46,XX/45,X), and 3 had normal karyotypes. Amniotic fluid alpha-fetoprotein (AFAFP) was normal in 4 pregnancies and low in 2 (0.09 MOM, 0.41 MOM). Of 2 pregnancies with trisomy 21 one had been referred for low MSAFP. In 2 pregnancies with normal karyotypes, US findings at early gestational age (14-17 weeks) of small, nonseptated, bilateral CHC disappeared during pregnancy; these women delivered normal, term babies. Most prenatally diagnosed CHC are not in fetuses with Turner syndrome. With a normal karyotype and CHC as the only finding on early US in utero, normal neonatal survival is possible. AFAFP is not elevated in pregnancies with CHC. If AFAFP is elevated with a positive acetylcholinesterase, such results may suggest that the CHC was inadvertently aspirated.

Acetylcholinesterase↗
PubMed1989

Seasonal variation in conception does not appear to influence the rate of prenatal diagnosis of nondisjunction.

A seasonal effect on ovulation patterns and conception rates is well documented in animal studies. The etiology of reported variation in human fertility is, however, uncertain. Abnormal ovulation has been implicated in the etiology of aneuploid conceptions, many of which abort spontaneously. To investigate the possibility that the frequency of aneuploidy reflects seasonal variation in ovulation patterns, we analyzed 5,292 consecutive prenatal karyotypes obtained from 1985 to 1987. Karyotypes were logged according to month and year of conception. Results were evaluated for cyclicity using frequency spectrum and time series analysis. Variation in the number of prenatal diagnostic procedures corresponded to known peaks in conception and delivery rates. No significant monthly or quarterly trend in the total rate of trisomies or in the rate of trisomy 21 was demonstrated. Although the sample size in this study may not be adequate to detect minor effects, seasonal variation does not appear to be a major determinant of nondisjunction rates in the population referred for prenatal diagnosis.

Aneuploidy↗
PubMed1989

Genetic correction of hereditary disease.

Several hereditary disorders may be potentially correctable by the introduction and incorporation of the normal gene into human tissues using a variety of systems. Although technical issues surrounding integration, stable expression and potential insertional mutagenesis to the treated cells has not yet been fully resolved, enough scientific progress has already been made to consider somatic cell gene therapy acceptable from both the scientific and ethical viewpoints. Tissue-specific stem cell and embryonic stem cell transplantation will allow therapy earlier in the developing embryo. As technical problems are eliminated, these procedures will become morally permissible, as they will allow the correction of devastating hereditary disease.

Ethics, Medical↗
PubMed1989

First trimester diagnosis and early in utero treatment of obstructive uropathy.

The earliest diagnosis and treatment of obstructed fetal bladder is reported. Placement of vesico-amniotic shunt at 14.5 weeks of gestation enabled preservation of bilateral renal function and maintenance of normal amniotic fluid volume with normal pulmonary development. The shunt functioned adequately for more than 12 weeks. At birth, a mild 'prune' belly was the only deformity noted.

Adult↗
PubMed1989

Counseling for low maternal serum alpha-fetoprotein should emphasize all chromosome anomalies, not just Down syndrome.

In common usage, a low maternal serum alpha-fetoprotein (MSAFP) value is associated with an increased risk of Down syndrome. We have performed amniocenteses for the indication of age-adjusted low MSAFP in 1154 patients and found 13 chromosomally abnormal conceptions. Autosomal trisomies were detected in half the cases. Additional abnormalities included sex-chromosome aberrations, deletions, or triploidy in proportions consistent with those seen in an advanced-maternal-age population. Patients with low serum AFP should be counseled that not only Down syndrome, but other aneuploidies as well, may be diagnosed. The risk quoted should be that of all chromosomal abnormalities, which is about twice the risk calculated for Down syndrome.

Adult↗
PubMed1989

The inadequacy of the current correction for maternal weight in maternal serum alpha-fetoprotein interpretation.

The application of correction factors for maternal serum alpha-fetoprotein (MSAFP) is expected to increase the accuracy of this screening tool. Correction for maternal weight compensates for the dilution effect of a larger plasma volume in women of greater weight. We analyzed the effect of a previously published linear correction formula for weight on the frequency of abnormal MSAFP results. Serum samples from 8276 patients were studied for AFP and were grouped according to maternal weight in 50-lb increments. Abnormal results were defined as 0.4 or less or 2.5 or more multiples of the median for gestational age. Without correction, the highest rate (15%) of low MSAFP results was obtained in the obese population. Conversely, the rate of elevated MSAFP was highest (3.8%) in the lowest maternal weight group. Correction for weight up to 250 lb significantly increased the rate of abnormally high results in the obese group, indicating an overcorrection effect. The number of amniocenteses indicated for abnormal MSAFP was reduced by about 9% with weight correction. We suggest that linear correction of serum AFP results is adequate for maternal weights up to 200 lb. Results in women weighing more than this upper limit should be corrected as if the weight were 200 lb only. This balances the frequency of abnormal results in all weight groups and maintains the reduction in number of procedures performed.

Body Weight↗
PubMed1989

Clinical implications of amniotic fluid alpha-fetoprotein in twin pregnancy.

Amniotic fluid alpha-fetoprotein (AF-AFP) was measured in 68 pairs of normal twins. Acetylcholinesterase (ACHE) was measured in 23 of those pairs. A significant difference in AF-AFP levels was found in 9/49 (19.4%) of twin pairs of the same sex and 9/19 (47.3%) of twin pairs of opposite sexes (P = .015). Differences in fetal size or gestational age at amniocentesis did not influence the rate of discordant AFP results. ACHE activity was identical in all amniotic fluid samples in twin pairs. In five additional patients, fetal anomalies (three), fetal death or fetal blood in the sample could have affected AFP levels, which were found to be discordant in three of them. Using fetal sex to represent zygosity, the study indicated that discordance in AF-AFP is more common in dizygous twins. The odds ratio for having a discordant AFP result if twins are of different sexes was 4.0. Implications of our data are: (1) in same-sex twins, discordance between sacs is less common, even if only one fetus is affected; (2) the difference in AFP results in twins of the same sex and of different sexes suggests variability in AFP transfer between twin gestational sacs; and (3) ACHE readily diffuses between sacs and cannot be used to determine which twin has an abnormality.

Acetylcholinesterase↗