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Biomedical subjects

A Drugan

Publications and source records attributed to A Drugan.

At least 73 records · Page 4Linked to original sources
PubMed1989

Interpretation of chorionic villus sampling laboratory results is just as reliable as amniocentesis.

Karyotypes of chorionic villi have been said to be less accurate than karyotypes of amniocytes. Karyotypic differences between placental and fetal tissue and maternal-cell contamination could potentially complicate clinical management. We compared cytogenetic results obtained by chorionic villus sampling and amniotic fluid cells in our center during a 2-year period (1986-1987). Chorionic villus sampling material was processed for direct analysis and backed up when indicated (now routinely) with tissue cultures. The incidence of inconclusive results requiring additional studies was 1.2% for chorionic villus sampling and 0.75% for amniotic fluid cells. Mosaicism was the most common problem for both chorionic villus sampling and amniotic fluid cells. Failure of growth was more frequent in amniocentesis material (0.35 versus 0.09%), but polyploidy and atypical aneuploidies were greater with chorionic villus sampling. The accuracy of cytogenetic evaluation by chorionic villus sampling and amniotic fluid cells and the need for additional invasive procedures appear to be equal in our laboratory.

Amniocentesis↗
PubMed1988

Amniotic fluid acetylcholinesterase: implications of an inconclusive result.

The implications of an "inconclusive" acetylcholinesterase test (a faint but true band) in amniotic fluid were studied over a 2 1/2-year period in our laboratory. One thousand one hundred fifty-four amniotic fluid samples were tested for acetylcholinesterase and alpha-fetoprotein; the rate of an inconclusive acetylcholinesterase result was 3.3% (38 of 1154). Fourteen such results were found in patients with a high amniotic fluid alpha-fetoprotein level (23.3%), and 24 results were associated with normal amniotic fluid alpha-fetoprotein levels (2.19%). The rates of congenital fetal malformation associated with an inconclusive acetylcholinesterase result in the two groups were 57.14% and 37.5%, respectively. In amniotic fluid samples obtained before 15 weeks' gestation, there was a higher rate of inconclusive acetylcholinesterase tests (9.29%), but a lower percentage of malformed fetuses were found compared with later in pregnancy (2.46% and 56%, respectively). Thus we suggest the terminology "equivocal" for early specimens and "suspicious" for later specimens. If obtained in early second trimester and the ultrasound scan is normal, such findings implicate the need for a careful search for fetal malformations. A positive pregnancy outcome may be expected in most cases.

Acetylcholinesterase↗
PubMed1988

Amniotic fluid cortisol and alpha-fetoprotein in normal and aneuploid pregnancies.

Cortisol and alpha-fetoprotein (AFP) levels were measured in amniotic fluid (AF) samples at 15-20 weeks of gestation from 125 normal pregnancies and 29 pregnancies affected by aneuploidy. The normal pregnancy group was further subdivided into 'low' AF-AFP (less than 0.6 MOM, n = 60) and 'normal' AF-AFP (0.6 less than AFP less than 1.4 MOM, n = 65). A significant, inverse, linear correlation was found between cortisol and AF-AFP for both normal AFP and low AFP groups (r = -0.26, and r = -0.4, respectively, p less than 0.05). Gestational age was significantly correlated with both cortisol and AFP levels in the normal pregnancy groups. No difference was found when cortisol levels were compared between the low and normal AFP groups. The correlation between cortisol and AFP in aneuploid pregnancies was not significant (p = 0.37). The strong association between cortisol or AFP and gestational age in normal pregnancy (p less than 0.00001) was lost in trisomic gestation. We conclude that higher cortisol levels do not seem to be the cause of low AFP in normal or aneuploid pregnancies.

Amniotic Fluid↗
PubMed1988

Amniotic fluid alpha-fetoprotein and acetylcholinesterase in early genetic amniocentesis.

Early identification of fetal abnormalities is possible as a result of improved ultrasound resolution, chorionic villus sampling, and early genetic amniocentesis. A potential advantage of early genetic amniocentesis over chorionic villus sampling is its ability to detect neural tube defects. We obtained 476 amniotic fluid samples between ten and 15 weeks' gestation and analyzed them for karyotype and alpha-fetoprotein (AFP); 142 were also tested for acetylcholinesterase. Amniotic fluid AFP levels rose to a peak at 12-13 weeks' gestation and then gradually declined, closely approximating the pattern in fetal blood. The rate of inconclusive acetylcholinesterase results (a faint but true band) was four times higher than that later in pregnancy (10.6 versus 2.46%, respectively). However, the rate of associated fetal congenital anomalies was lower than that later in pregnancy. Chromosomal abnormalities were detected in the study group, and the association with low amniotic fluid AFP in early genetic amniocentesis levels was identical to that further along in pregnancy. These data help establish normal values for AFP in early pregnancy. With AFP and cautious interpretation of acetylcholinesterase, early genetic amniocentesis can be used for neural tube defect detection.

Acetylcholinesterase↗
PubMed1988

Wide variation in maternal serum alpha-fetoprotein reports in one metropolitan area: concerns for the quality of prenatal testing.

The variation in reported laboratory values, medians, and confounding variables used in the interpretation of alpha-fetoprotein (AFP) values from 14 laboratories servicing the Detroit-Metropolitan area was assessed by reviewing the laboratory report forms. The wide variation found in reported values, medians, and use of correction factors makes interpretation of results difficult and inaccurate. The need for large data bases for continuous correction of medians, uniform use of correction factors, and clinical decision making is emphasized.

Black People↗
PubMed1988

A normal ultrasound does not obviate the need for amniocentesis in patients with elevated serum alpha-fetoprotein.

Elevated levels of maternal serum alpha-fetoprotein (MSAFP) will identify a population at increased risk for specific congenital malformations, which are accurately diagnosed by amniotic fluid AFP and acetylcholinesterase. The risk for spontaneous abortion related to amniocentesis, combined with increasing confidence in the accuracy of ultrasound diagnosis, has caused us to question the need for amniocentesis in the diagnostic workup of pregnancies complicated by elevated levels of AFP in maternal serum. A retrospective study of 257 pregnancies evaluated for elevated serum AFP levels revealed 16 fetal malformations diagnosed by amniotic fluid AFP and acetylcholinesterase. Only 12 of these malformations were diagnosed on the initial ultrasound study. All malformations were diagnosed when ultrasound examination was repeated for increased acetylcholinesterase activity. Earlier gestational age at scanning, smaller defects, and pure technical failure were implicated as causes of misdiagnosis. The rate of fetal malformations identified in this high-risk population (6.23%) and the rate of ultrasound misdiagnosis (1.5% of the population with elevated levels of MSAFP) imply that amniocentesis should still be considered an essential part of the diagnostic workup in these situations.

Acetylcholinesterase↗
PubMed1987

Reduction of the number of embryos in a multiple pregnancy: quintuplet to triplet.

The technique for reduction of the number of embryos was applied in a patient who conceived following IVF and transfer of six embryos. On the 10th week of gestation, the number of embryos was reduced from five to three by an U/S-guided intra-uterine procedure. Two healthy girls and a boy were delivered in the 36th week by cesarean section. No trace of the other two fetuses was found. The moral and technical aspects of partial preventive termination of multiple pregnancy are discussed.

Abortion, Induced↗
PubMed1987

Gene therapy.

Severe genetic disorders are potentially correctable by the addition of a normal gene into tissues. Although the technical problems involving integration, stable expression, and insertional damage to the treated cell are not yet fully solved, enough scientific progress has already been made to consider somatic cell gene therapy acceptable from both the ethical and scientific viewpoints. The resolutions to problems evolving from somatic cell gene therapy will help to overcome the technical difficulties encountered presently with germ line gene manipulation. This procedure would then become morally permissible as it will cause, in time, a reduction in the pool of abnormal genes in the population. Enhancement genetic engineering is technically feasible but morally unacceptable. Eugenic genetic engineering is not technically possible or ethically permissible in the foreseeable future.

Ethics, Medical↗
PubMed1986

Postmenopausal tubo-ovarian abscess.

Tubo-ovarian abscess in postmenopausal women is a distinct and rare entity. The disease is usually diagnosed on the operating table and its high rate of postoperative complications and mortality commands special attention. By presenting our experience with four cases of tubo-ovarian abscess in postmenopausal women, we would like to re-emphasize the importance of including this disease in the differential diagnosis of the surgeon and the gynecologist. Early laparotomy is essential to reduce morbidity and mortality.

Abscess↗
PubMed1986

Use of the serum copper/zinc ratio in the differential diagnosis of ovarian malignancy.

We measured copper and zinc in serum (n = 82) and tumor tissue (n = 41) from women with a palpable pelvic mass, admitted for suspected ovarian tumor. In serum, copper was increased and zinc decreased in the group (n = 40) subsequently proven to have a malignant ovarian tumor. The mean copper/zinc ratio in this group was 2.30 (SD 0.41), significantly (p less than 0.001) higher than for the benign group (n = 42), 1.43 (SD 0.22). In tumor tissue the concentrations of copper and zinc followed the same pattern, the copper/zinc ratio being significantly (p less than 0.001) higher in the malignant (0.158, SD 0.065) tumors than in the benign tissue (0.093, SD 0.04). We conclude that the Cu/Zn ratio in serum reliably (specifically) indicates the presence of advanced ovarian malignant tumor. The decreased concentrations of zinc and the increased concentrations of copper in serum do not seem to result from a shift of zinc into or release of copper out of the malignant tumor tissue.

Copper↗
PubMed1983

The diagnostic value of serum copper/zinc ratio in gynecological tumors.

Serum copper levels (SCu) and serum zinc levels (SZn) were determined on admission in 73 women hospitalized for suspected gynecological tumor. Twenty-five of the women were subsequently found to have malignant tumor, while 48 had benign growths. The serum Cu/Zn ratio of the malignant group (2.13 +/- 0.53) was significantly (p less than 0.001) higher than that of the benign group (1.45 +/- 0.25). A good correlation was established between the Cu/Zn ratio and the stage of the malignant tumor. Serum copper level showed a linear correlation (R = 0.878) with serum ceruloplasmin values. These results indicate that the serum Cu/Zn ratio may be used as a valuable predictor of the presence of malignant gynecological tumor and its stage.

Ceruloplasmin↗
PubMedDate not supplied

Maternal thyroid function does not alter maternal serum alpha-fetoprotein interpretation.

OBJECTIVE: Endocrine alterations of metabolism such as diabetes and obesity are known to affect maternal serum alpha-fetoprotein interpretation. Thyroid function has been questioned, e.g., because of binding globulins, but not adequately studied as to its impact upon maternal serum alpha-fetoprotein. The purpose of this study was to assess the possible effects of T4 and thyroid-stimulating hormone (TSH) on alpha-fetoprotein production, and to determine if thyroid function (hypothyroidism) alters maternal serum alpha-fetoprotein. METHODS: We evaluated maternal serum alpha-fetoprotein, T4, and TSH records of 25,551 patients, between 14 and 20 weeks' gestation, on whom both studies had been ordered by the patient's primary obstetrician to rule out maternal thyroid disease in pregnancy. Statistical analyses were performed by chi 2 and regression analysis. RESULTS: Patients were stratified according to thyroid function tests into two groups: hypothyroidism (T4 < 6.5 micrograms/dL and/or TSH > 5.0 micrograms/mL), and normal or hyperthyroidism (T4 > or = 6.5 micrograms/dL and/or TSH > or = 5.0 microU/mL). Maternal serum alpha-fetoprotein values were compared among groups for each gestational age. No significant variation or correlation of maternal serum alpha-fetoprotein and thyroid function was observed. CONCLUSIONS: Although other endocrine abnormalities are known to impact maternal serum alpha-fetoprotein values either through decreased production, decreased placental permeability, or plasma volume distribution alterations, maternal thyroid status does not interfere with proper interpretation of maternal serum alpha-fetoprotein.

Female↗
PubMedDate not supplied

Differential effect of advanced maternal age on prenatal diagnosis of trisomies 13, 18 and 21.

Nondisjunction associated with advanced maternal age, a well-established factor in the etiology of autosomal trisomy, should equally affect all chromosomes. In this study we evaluate the association of advanced maternal age with the occurrence of potentially viable autosomal trisomies (13, 18 and 21). 275 aneuploid pregnancies were ascertained prenatally and were grouped according to chromosome anomaly diagnosed. Mean maternal age was significantly younger (p = 0.009) in pregnancies affected by trisomy 13 than in pregnancies with trisomy 21. An intermediate mean maternal age was observed in pregnancies affected by trisomy 18. Our study shows a trend of the more severe, but potentially viable, autosomal trisomies to be diagnosed at younger maternal age. This may substantiate the 'relaxed selection hypothesis' proposed to explain the association of aneuploid conceptions with advanced maternal age.

Adult↗
PubMedDate not supplied

Ontogeny of isolated ultrasound markers for fetal aneuploidy.

OBJECTIVE: To evaluate the natural history of isolated ultrasound markers for fetal aneuploidy observed at 14-16 weeks of affected gestations. STUDY DESIGN: 76 aneuploid gestations were diagnosed among a predominantly low-risk population undergoing targeted ultrasonography in the early second trimester. Indications for evaluation of fetal karyotype included fetal malformations or sonographic markers for aneuploidy, maternal age over 35 years and abnormal serum screening results. Markers were re-evaluated at the time of amniocentesis or at pregnancy termination for fetal anomalies. RESULTS: Sonographic markers for aneuploidy (SMA) were observed in 68 of 76 aneuploid gestations diagnosed in the study group. In 46 cases, SMA were associated with major fetal malformations and in 22 cases, markers were isolated. Only 2 of 22 isolated markers for aneuploidy were documented at the time of amniocentesis. CONCLUSION: Isolated ultrasound markers for aneuploidy are transient and may disappear later on in gestation. Transvaginal sonography at 14-16 weeks of gestation appears to provide the best time window for detection of markers for fetal abnormal karyotype.

Adult↗
PubMedDate not supplied

Sonographic nuchal markers for Down syndrome are more common but less ominous in gestations with a male fetus.

OBJECTIVE: A change in the normal male-to-female ratio has been reported in some autosomal trisomies (i.e., trisomy 21 or trisomy 18). The objective of the present study was to evaluate the male-to-female ratio in pregnancies with sonographic nuchal markers for Down syndrome. METHODS: The results of amniocenteses performed for isolated nuchal markers for Down syndrome were grouped by fetal sex and by maternal age. The male-to-female ratio in normal and trisomic gestations was compared. RESULTS: 584 fetal karyotypes were available for analysis. A significantly higher male-to-female ratio was observed. More affected gestations were observed in association with a female fetus. These differences were mainly attributed to the group of patients younger than 35 years that represents more than 80% of our study population. No difference was observed in pregnancies of patients older than 35 years of age. CONCLUSIONS: In patients younger than 35 years, sonographic nuchal markers for Down syndrome are more frequent (but apparently less ominous) in gestations with a male fetus. If the gender is known, counseling can be modified to include such differential risks.

Adult↗