PubMed Health⌕ Search

Biomedical subjects

A Baumgarten

Publications and source records attributed to A Baumgarten.

At least 19 recordsLinked to original sources
PubMed1995

Normal nuchal thickness in the midtrimester indicates reduced risk of Down syndrome in pregnancies with abnormal triple-screen results.

OBJECTIVE: Our purpose was to determine whether nuchal thickness measurement can identify the euploid fetuses in midtrimester pregnancies at increased risk for Down syndrome on the basis of maternal age and serum screening. STUDY DESIGN: Nuchal thickness was obtained prospectively in 651 consecutive fetuses at 14 to 21 weeks' gestation and at > or = 1:270 risk for Down syndrome on the basis of unconjugated estriol, alpha-fetoprotein, and human chorionic gonadotropin levels. The risk of Down syndrome with a normal nuchal thickness was determined. A receiver-operator characteristic curve was used to determine a serum-based risk threshold below which the risk for Down syndrome was low. The prevalence of Down syndrome in fetuses with both a normal nuchal thickness and a below-serum-risk threshold was compared with prevalence in either those above threshold risk or with an abnormal nuchal thickness. RESULTS: There were eight cases of trisomy 21 and one case each of 46,XX/47,XXX, 46,XY/47,XY, +7, and 46,XX, 11q-. The sensitivity of an abnormal nuchal thickness (> or = 6 mm) for detecting Down syndrome was four in eight (50%) (95%) confidence interval 15.3% to 84.6%). The risk of Down syndrome was significantly increased with an abnormal compared with a normal nuchal thickness, four in 13 (30.8%) versus four in 638 (0.6%), p < 0.0001. A risk threshold was defined at > or = 1:100 on the basis of the receiver-operator characteristic plot. Of 390 cases with a normal nuchal thickness and a serum risk estimate < 1:100, there were no cases of Down syndrome (0/390 vs 8/253, p = 0.002). CONCLUSION: Normal nuchal thickness significantly reduces the risk of Down syndrome and may help reduce the number of amniocenteses done for abnormal triple screen results.

Adult↗
PubMed1991

The usefulness of routine screening for salivary secretory component.

Secretory IgA is a dimeric immunoglobulin found in association with the J chain and secretory component (SC). It is secreted into saliva and other mucosal fluids and is involved in mucosal immunity. The absence of either SC or secretory IgA may be associated with recurrent sinopulmonary infections, diarrhea, and failure to thrive. We present a retrospective study of 1262 samples from 877 patients who were screened for salivary IgA, SC, and serum immunoglobulin levels. Forty-six patients (5.2%) of those tested were found to have absent salivary SC. Although only 19 of these patients (41.3%) could be retested, all were found to have SC on repeated testing. Of the patients whose initial samples of saliva exhibited no SC, 15% (6/46) had low or absent serum IGA (less than 10 mg/dl) in contrast to 8.6% (66/769) of patients whose saliva contained detectable SC, but this was not statistically significant (chi 2 = 1.93; p greater than 0.1). There was also no correlation between serum immunoglobulin levels and the absence of SC. Because of the rarity of salivary SC deficiency, routine screening is not valuable.

Aging↗
PubMed1990

The wrinkly skin syndrome: a report of a case and review of the literature.

A 2 1/2-year-old boy born of Jewish Moroccan parents is reported with physical findings of wrinkled skin on the dorsum of the hands and feet, with poor skin elasticity, syndactyly, mild kyphosis and poor muscle tone, the diagnosis being the wrinkly skin syndrome. All reported cases of this heritable disorder of connective tissue are reviewed and discussed in terms of genetics, ethnic clustering and differential diagnosis.

Child, Preschool↗
PubMed1990

Elevated maternal serum alpha-fetoprotein concentration and fetal chromosomal abnormalities.

Amniocentesis was performed in 1038 patients with elevated maternal serum alpha-fetoprotein (MSAFP) concentrations. Patients were divided into two groups based upon the amniotic fluid AFP concentration. Group 1 (N = 964) had a normal amniotic fluid AFP concentration and group 2 (N = 74) had elevated amniotic fluid AFP. Fetal chromosomal results were reviewed from the study population, with the finding of eight major fetal chromosomal abnormalities. Of the eight fetal chromosomal abnormalities, five were associated with elevated amniotic fluid AFP and three were associated with normal amniotic fluid AFP. The sensitivity and specificity of elevated amniotic fluid AFP concentrations in screening for a fetal chromosomal abnormality were 62.5 and 93.3%, respectively. In women with elevated MSAFP but normal amniotic fluid AFP concentrations, the probability of a major fetal chromosomal abnormality is extremely small.

Amniocentesis↗
PubMed1988

Amniotic fluid alpha-fetoprotein concentrations in twin gestations: dependence on placental membrane anatomy.

Placental membrane anatomy was evaluated after delivery in 65 twin pregnancies undergoing genetic amniocentesis with amniotic fluid alpha-fetoprotein and acetylcholinesterase determinations when indicated. Each twin member in the 57 uncomplicated twin pregnancies was found to have an amniotic fluid alpha-fetoprotein concentration similar to that of singleton pregnancies of an equivalent gestational age. Eight twin pregnancies were found to be discordant for fetal anomalies associated with an elevated amniotic fluid alpha-fetoprotein and acetylcholinesterase level. The amniotic fluid alpha-fetoprotein concentration in the unaffected fetus in these eight cases was found to be dependent on placental membrane structure. Of the five discordant twin pregnancies with diamnionic-dichorionic placentas, all unaffected twins demonstrated an amniotic fluid alpha-fetoprotein concentration within the normal range for gestational age with a normal acetylcholinesterase level. In three twin pairs with diamnionic-monochorionic placentas, the unaffected twin member had significantly elevated amniotic fluid alpha-fetoprotein and acetylcholinesterase levels, which suggested diffusion of alpha-fetoprotein and acetylcholinesterase through the amnion-amnion interface.

Acetylcholinesterase↗
PubMed1988

Prospective study of an inverse relationship between maternal glycosylated hemoglobin and serum alpha-fetoprotein concentrations in pregnant women with diabetes.

A hypothesized inverse relationship between the concentration of glycosylated hemoglobin and serum alpha-fetoprotein was observed in a prospective study of 39 pregnant women with insulin-dependent diabetes as well as seven pregnant women with diabetes who did not require insulin (r = -0.434, p less than 0.002). No similar correlation was found among a selected population of healthy pregnant women (r = -0.129). Because the level of glycosylated hemoglobin in pregnancy correlates with poor outcome, including the occurrence of fetal anomaly, it may be important to quantify glycosylated hemoglobin in pregnancies with low alpha-fetoprotein levels. These results also suggest that the maternal concentration of glycosylated hemoglobin can be used to adjust serum alpha-fetoprotein values before their interpretation in the screening of pregnant women with diabetes.

Diabetes Mellitus, Type 1↗
PubMed1988

A reassessment of maternal serum alpha-fetoprotein in diabetic pregnancy.

We assessed maternal serum alpha-fetoprotein (AFP) concentrations in 227 diabetic women who belonged to different groups of White's classification but found no difference either between the insulin-dependent and the normative population or between the former and diabetics who were not insulin-dependent. By contrast, we found in maternal blood a marked, statistically significant inverse correlation between maternal serum AFP and the concentration of glycosylated hemoglobin in maternal blood assayed within 6 weeks of each other in mid-gestation (r = -0.4, p less than 0.05), but not when glycosylated hemoglobin was determined in the first two months of pregnancy (r = 0.05). These data indicate that the decrease in maternal serum AFP found in pregnant diabetic women is related to the efficacy of diabetic control but not to the diabetic status. A correction in maternal serum AFP should therefore be applied only to values obtained for women with poor glycemic control. Decreased maternal serum AFP in poorly controlled diabetics may indicate reduced synthesis of other fetal proteins which, in turn, may correlate with fetal growth retardation and the occurrence of malformation.

Adult↗
PubMed1988

Microalbuminuria and hypertension in long-term renal donors.

In order to determine whether the proteinuria observed in some renal donors was glomerular or tubular in origin, and to determine whether creatinine clearance was an accurate index of glomerular filtration rate (GFR) in subjects with reduced nephron mass, 29 donors were evaluated 9-18 years after uninephrectomy. Results were compared with those in 31 age-, sex-, and race-matched controls evaluated at the same time. Mean creatinine clearance (Ccreat) in donor was 78% that of controls, which was similar to the 85% ratio of inulin clearance (Cin) in donors compared with that of controls. Furthermore, the ratio of Ccreat/Cin was similar in both donors and controls. One third of the renal donors had an elevated albumin excretion compared with controls (microalbuminuria [12-220 mg/24 hr] in seven patients; 301 and 1084 mg/24 hr in two patients). There was no correlation between albuminuria and blood pressure, nor was there a demonstrable clinical cause for the albuminuria in most patients. In contrast to these results, excretion of beta-2 microglobulin, an index of tubular proteinuria, was normal in all but one patient. The prevalence of hypertension was higher in donors compared with the expected prevalence adjusted for age, sex, and race. These results verify that creatinine clearance is a reliable measure of GFR in long-term renal donors. They also demonstrate an increased frequency of glomerular proteinuria and hypertension in renal donors. Despite these mild abnormalities, GFR is well preserved for up to 18 years postuninephrectomy.

Adult↗
PubMed1987

Screening for fetal Down's syndrome in pregnancy by measuring maternal serum alpha-fetoprotein levels.

Although the risk of Down's syndrome increases with maternal age, women under 35 bear about 80 percent of the infants born with this condition. We prospectively investigated the utility of measuring maternal serum alpha-fetoprotein during the second trimester in women under 35 in order to identify pregnancies in which the fetus was affected with Down's syndrome. Over a two-year period, 34,354 women in this age group were screened. Amniocentesis was offered when the risk of Down's syndrome, calculated as a function of maternal age and maternal serum alpha-fetoprotein concentration adjusted for maternal weight and race, was 1:270 or higher, the risk for a 35-year-old woman. This threshold was exceeded in 1451 women in whom gestational age was confirmed by ultrasound; 9 women in this group had a fetus with the syndrome. In three women whose fetuses had trisomy 18 and one whose fetus had trisomy 13, the calculated risk of Down's syndrome was 1:270 or higher. Thus, among women in whom the risk exceeded our cutoff point, 1 in 161 were found to have a pregnancy in which the fetus was affected with Down's syndrome; the figure was 1 in 112 for all autosomal trisomies. Eighteen pregnancies involving Down's syndrome, three involving trisomy 18, and two involving trisomy 13 were not associated with a calculated risk above the cutoff point. The available data indicate that in our population, using a cutoff for risk at which 5 percent of women under 35 are offered amniocentesis, we will detect one quarter to one third of pregnancies in which the fetus has Down's syndrome.

Adult↗
PubMed1987

The association of congenital skin disorders with acetylcholinesterase in amniotic fluid.

We describe a fetus with epidermolysis bullosa dystrophica and a fetus with aplasia cutis congenita who were normal by careful ultrasound examination but whose midtrimester amniotic fluids exhibited elevated concentrations of alpha-fetoprotein and presence of acetylcholinesterase. These cases show that serious fetal skin pathology can be a source of amniotic fluid acetylcholinesterase and elevated alpha-fetoprotein concentration and should be considered as part of the differential diagnosis of these amniotic fluid findings.

Acetylcholinesterase↗
PubMed1987

ELISA measurement of antibody titer to purified protein derivative and mycobacteria-derived phosphoglycolipids: tool for diagnosing active pulmonary tuberculosis.

There is a continuous search for a rapid, efficient and reliable serodiagnostic technique for active tuberculosis (TB). Using ELISA (enzyme-linked immunosorbent essay) we have determined antibodies reactive to purified protein derivative (PPD) and two phosphoglycolipids extracted from Mycobacterium bovis cell wall, phosphatidyl inositol dimannoside (PID) and phosphatidyl inositol pentamannoside (PIP). Twenty-one patients of Ethiopian origin with active pulmonary TB and 20 healthy control subjects vaccinated with BCG in infancy were evaluated. A significantly higher level of immunoglobins reactive with the antigens was found among the patients with active pulmonary TB. The mean +/- SD of the OD units (x 10(3)) recorded in the sera of TB patients compared with control subjects were as follows: using PPD 250 +/- 210 vs. 120 +/- 150 (P less than 0.025); with PID 1,150 +/- 470 vs. 750 +/- 150 (P less than 0.01); and with PIP 1,170 +/- 500 vs. 780 +/- 160 (P less than 0.025). Accordingly, the sensitivity and specificity levels were: with PPD 81 and 75%, with PID 82 and 80% and with PIP 73 and 70%, respectively. Much more accuracy can be obtained by calculating the results of reactivity toward the combined free antigen assays. It is suggested that ELISA using mycobacterial derived antigens might be useful in the diagnosis and screening of active pulmonary TB in large populations, due to its rapidity and simplicity.

Antibodies, Bacterial↗
PubMed1986

Rise in maternal serum alpha-fetoprotein concentration after chorionic villus sampling and the possibility of isoimmunization.

Maternal serum alpha-fetoprotein concentrations were determined by radioimmunoassay in 72 patients immediately before and after chorionic villus sampling for prenatal diagnosis. Fifty percent showed a rise of greater than or equal to 5 ng/ml. Assuming such rises represent fetal blood crossing the intervillous space, in 14% of the cases greater than or equal to 60 microliters of fetal blood was transferred at the time of chorionic villus sampling. A positive correlation was found between the magnitude of rise in maternal serum alpha-fetoprotein levels and the amount of villi removed (r = 0.39, p less than 0.001). When cases were examined by number of passes, a greater rise in maternal serum alpha-fetoprotein levels was noted with multiple passes than with single passes for a given sample size. The transfer of greater than or equal to 60 microliters of fetal blood suggests that maternal sensitization to fetal antigens may occur after chorionic villus sampling. During biopsy, as small a sample of villi as necessary for diagnosis should be taken with as few catheter passes as possible.

Biopsy↗