Biomedical subjects

A Drugan

Publications and source records attributed to A Drugan.

84 records · Page 5Linked to original sources

PubMedDate not supplied

Similarity of twins to singleton maternal serum alpha-fetoprotein ratio by race: no need to establish specific multifetal tables.

The purpose of this study was to assess the need for race-specific maternal serum alpha-fetoprotein (MSAFP) curves in twin gestations. MSAFP values were evaluated in 535 samples obtained from twin gestations. Results were grouped according to gestational age (from 15 to 20 weeks), as with our singletons. Separate median curves were determined for black and for white pregnancies. On average, the median serum alpha-fetoprotein (AFP) for twins was about twice (2.1 +/- 0.3) the median of singletons. MSAFP in blacks was commonly higher than in white pregnancies of comparable gestational age. Using a 4.5 multiple of the singleton median cutoff in twin white pregnancies, 3.9% of the results were defined as 'high', similar to the rate observed in singleton pregnancies. 'Low' results in twins were defined as AFP values lower than 1.0 multiples of the singleton median (in pregnancies of similar gestational age and race). About 7% of the serum samples for whites were defined as 'low' by this criteria. Data for blacks were comparable. Race-dependent median values should be used for MSAFP interpretation in twin as well as singleton pregnancies. 'High' and 'low' percentages are comparable to our large data bank of singleton pregnancies and seem to be adequate for interpretation of serum AFP in twins. Therefore, the race-specific singleton multiples are sufficient, obviating the need to build specific median curves for multifetal gestations.

Black People↗

PubMedDate not supplied

Changing dysmorphology of trisomy 18 during midtrimester.

A fetus affected by trisomy 18 was observed serially on ultrasound from 14 to 21 weeks of gestation. The earliest and sole dysmorphic feature noted at 14 weeks of gestation were nonseptated nuchal cysts. At 17 weeks the ultrasound examination was considered normal. However, at 21 weeks gestation, bilateral choroid plexus cysts, clubfoot, growth retardation and overlapping fingers were observed. These findings suggest that the dysmorphology associated with trisomy 18 is dynamic in nature and may change along the course of pregnancy.

Abnormalities, Multiple↗

PubMedDate not supplied

Age of gestation (size) at embryonic demise: tailoring counseling for lethal versus potentially viable aneuploidy.

The incidence of chromosomal abnormalities in spontaneous abortions is much higher than commonly appreciated. Using postmortem chorionic villus sampling (as we have previously described), our much increased yield of results allows us to divide embryos into two groups based upon potential viability. Embryonic size at the time of demise correlated with viability, i.e., the more 'viable' the embryo for term survival. Even in the absence of chromosomal results, the size of the embryonic pole can be used to infer, to a degree, the type of abnormality.

Adult↗

PubMedDate not supplied

Maternal serum alpha-fetoprotein screening: the need to use race/ethnic specific medians in Asians.

OBJECTIVES: We questioned whether race-specific databases for maternal serum alpha-fetoprotein (MSAFP) screening should be added to those already available for African-American and white patients. STUDY DESIGN: We analyzed 138,272 MSAFP samples. The geographic origin of the samples was New York metropolitan area. Patients were classified as white, African-American, Hispanic or Asian. The usual adjustments were made and groups compared. Statistical analysis included ANOVA and multiple comparison test. RESULTS: MSAFP values are highest (p < 0.05) for Asians, followed by African-Americans, Hispanics, and whites, although the difference between Hispanic and white was not significant. CONCLUSIONS: Four separate databases are definable if specimen quantity is sufficient. Race/ethnic specific databases are more likely to yield the most accurate detection of abnormal MSAFP values, and therefore, fetal anomalies.

Asian↗

PubMedDate not supplied

Markedly elevated alpha-fetoprotein and positive acetylcholinesterase in amniotic fluid from a pregnancy affected with dystrophic epidermolysis bullosa.

Prenatal diagnosis of dystrophic epidermolysis bullosa (DEB) has been achieved in the past by fetal skin sampling. However, this invasive procedure is associated with a relatively high rate of pregnancy loss. We present a consanguineous Arab family ascertained by 2 affected offspring to be at risk for DEB. In a previous gestation, fetoscopic skin sampling for prenatal diagnosis yielded a false-positive result. In the index pregnancy, abnormally elevated amniotic fluid alpha-fetoprotein (13.7 MOM) and positive acetylcholinesterase were highly suggestive of an affected fetus. Fetal skin biopsy was declined. At term, the patient delivered a male infant with DEB that expired on the 3rd day of life. It is apparent from our experience and from review of the literature that in some genodermatoses, markedly elevated alpha-fetoprotein and positive acetylcholinesterase in amniotic fluid are highly suggestive of an affected fetus and may obviate the need for fetal skin sampling in the prenatal diagnosis of these disorders.

Acetylcholinesterase↗

PubMedDate not supplied

Role of ultrasonography in pregnancies with marker chromosome aneuploidy.

The objective of this report was to evaluate the effect of ultrasonographic (US) findings on pregnancy management in patients with marker chromosome (MC) aneuploidy ascertained through prenatal diagnosis. From 1989 through June 1993, 15,522 prenatal diagnostic procedures were performed for accepted indications. Charts of patients with MC on amniocentesis or chorionic villus sampling (CVS) karyotype were evaluated with respect to US anomalies, pregnancy complications, and outcome. Nineteen cases of MC were identified. The prevalence of MC in our study was 0.12% (1:816 procedures). No significant difference between CVS and amniocentesis was found: 5/19 (26%) were CVS specimens, which is comparable to our CVS (3,259/15,522) case distribution. Three cases with incomplete records were excluded from the analysis. Four inherited MC cases were identified: 1 case had anencephaly. Of the 12 de novo MC cases 4 (33%) had abnormal US findings, and an additional 4 were found to have cytogenetic evidence for partial trisomy. Seven of these 8 abnormal de novo MC cases were terminated. MC aneuploidy is more common in pregnancies sampled for usual genetic indications than previously reported in pediatric series. High-resolution US may identify a major malformation not etiologically related to a MC inherited from a normal phenotypic parent. The association of the novo MC with US anomalies confers a poor prognosis, suggesting the expression of genetic imbalance from the accessory chromatin (partial trisomy). However, when US appears normal on initial and follow-up examinations, the chances for a normal-phenotypic newborn are high.

Amniocentesis↗

PubMedDate not supplied

Increased amniotic fluid alpha-fetoprotein in patients with fetal nuchal edema.

The alpha-fetoprotein concentration in the amniotic fluid of 51 fetuses with isolated nuchal edema and normal karyotypes was compared to that of the next 51 patients of comparable gestational age with normal ultrasounds and karyotypes. The mean alpha-fetoprotein in amniotic fluid was 1.26 +/- 0.45 in the nuchal edema group and 1.01 +/- 0.3 in controls (t = 3.287, p = 0.002). Acetylcholinesterase evaluation was indicated by abnormally elevated alpha-fetoprotein in 4% of amniotic fluid samples from the study group and none of the controls. We concluded that alpha-fetoprotein is higher in amniotic fluid from pregnancies with isolated fetal nuchal edema and normal karyotype. Possible leakage of protein from enlarged cervical lymphatics associated with fetal nuchal edema may explain these findings.

Amniocentesis↗

PubMedDate not supplied

Multiple marker screening in multifetal gestations: failure to predict adverse pregnancy outcomes.

The objective of the study was to assess whether the association known in singleton pregnancies of high maternal serum alpha-fetoprotein (AFP) or human chorionic gonadotropin (HCG) with adverse outcomes applies also to multifetal gestations. Maternal serum AFP and HCG were evaluated in 207 multifetal pregnancies. High values were defined as a maternal serum AFP of > 4.5 and a HCG of > 4.0 multiples of the median (MoM), with appropriate adjustments. Results were correlated with premature delivery, stillbirths, or pregnancy termination for fetal anomalies. There were 10 stillbirths, 7 terminations of pregnancy for fetal anomalies, and 66 premature deliveries in the study group. Maternal serum AFP was somewhat higher in abnormal pregnancies than in those with normal outcome (3.4 vs. 2.5 MoM, respectively, NS). A high AFP level was found in 6% of pregnancies with adverse outcomes and in 4% of uncomplicated gestations (NS). High HCG values, also observed in 5% of cases, were all associated with normal outcome. Multiple marker screening suggested an increased risk for aneuploidy in 9% of patients, all of whom were euploid on amniocentesis karyotypes. Maternal serum screening in multiple gestations is confounded by the differing contributions of fetuses, and abnormal results cannot reliably predict adverse pregnancy outcomes.

Adolescent↗

PubMedDate not supplied

Abnormal biochemical serum screening versus 2nd-trimester ultrasound-detected minor anomalies as predictors of aneuploidy in low-risk patients.

OBJECTIVE: To compare the yield of multiple-marker biochemical screening with that of minor fetal anomalies observed on ultrasound for detection of aneuploidy in low-risk patients. METHODS: The results of 1,073 amniocenteses performed because of abnormal biochemical screening tests were compared against 197 amniocenteses performed for minor anomalies as detected on level II ultrasound at 15-22 weeks of gestation. RESULTS: False-positive results were observed in about 7% of serum screening patients and in 1.7% of the ultrasound cases. Chromosomally abnormal fetuses were detected in 2% of the amniocenteses performed because of abnormal serum screening and in 2.5% of the cases with ultrasound-defined minor anomalies. CONCLUSIONS: Both methods identify patients at risk for abnormal karyotypes. Although the evaluation of serum biochemical markers yielded more false-positive results, it is more suitable than ultrasound for mass population screening.

Adult↗

PubMedDate not supplied

No effect of fetal sex on amniotic fluid alpha-fetoprotein.

OBJECTIVE: To evaluate the effect of fetal sex on the concentration of amniotic fluid alpha-fetoprotein (AF-AFP) in singletons and twins. MATERIAL AND METHODS: Amniocentesis was performed for advanced maternal age between 15 and 20 weeks of gestation. Only patients with normal karyotypes, uncomplicated gestations and normal ultrasound examination were included. AFP was measured in amniotic fluid by RIA and results, expressed as multiples of the median (MoM), were grouped according to fetal sex and were compared by t test. RESULTS: A total of 603 singleton pregnancies (294 females and 309 males) and 45 twin pregnancies discordant for sex met the inclusion criteria. The mean AF-AFP in singleton males was 1.06 vs. 1.04 MoM in singleton females. In twins, the mean AF-AFP was, respectively, 1.05 and 1.07 MoM (p > 0.05). CONCLUSION: Gender had no impact on AF-AFP in singleton or twin pregnancies, suggesting that the differential influence of sex hormones on the activity of the AFP gene is negligible.

Adult↗

PubMedDate not supplied

The natural history of prenatally diagnosed cerebral ventriculomegaly.

Intrauterine treatment of fetal cerebral ventriculomegaly has been largely abandoned, as the results have been disappointing compared with those of standard neonatal treatment. However, we suggest that the natural history of ventriculomegaly diagnosed in utero has not been studied adequately and that fetal surgery may have a role in selected patients. We have analyzed the outcome in 43 cases of fetal ventriculomegaly followed up without active treatment in utero. Our data suggest that the prognosis is poor for fetuses with ventriculomegaly and coexistent malformations, good for those with isolated, nonprogressive ventriculomegaly, and variable for those with progressive, isolated ventriculomegaly.

Abnormalities, Multiple↗

PubMedDate not supplied

Similarity of insulin-dependent diabetics' and non-insulin-dependent diabetics' levels of beta-hCG and unconjugated estriol with controls: no need to adjust as with alpha-fetoprotein.

OBJECTIVE: To determine if the same systematic alteration of serum values seen for alpha-fetoprotein (AFP) in diabetic patients is also seen for beta-hCG and unconjugated estriol (uE3). METHODS: Serum AFP, beta-hCG, and uE3 results were obtained in 18,639 patients for whom complete follow-up information was obtained. Patients were divided into euglycemic (n = 18,088), insulin-requiring diabetics (n = 104), and non-insulin-requiring diabetics (n = 437), as well as by race. RESULTS: The 20% adjustment used for AFP appropriately corrects serum values. No such systematic variation is seen for either beta-hCG or uE3 by glycemic status or race. CONCLUSION: No adjustment for beta-hCG or uE3 is necessary for diabetes for biochemical screening programs.

Black or African American↗