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D N Saller

Publications and source records attributed to D N Saller.

At least 37 records · Page 2Linked to original sources
PubMed1994

Cytogenetic abnormalities among perinatal deaths demonstrating a single umbilical artery.

The presence of a single umbilical artery is associated with fetal congenital malformations and cytogenetic abnormalities. The incidence of chromosomal abnormalities in perinatal deaths complicated by a single umbilical artery is unknown. We studied the proportion of cytogenetic abnormalities associated with a single umbilical artery among perinatal deaths undergoing autopsy. Of 1078 autopsies, 42 (3.9 per cent) were identified with a single umbilical artery. Chromosome analysis was attempted in 21 of the 42 cases (50 per cent). There were 16 successful chromosome analyses, of which three (18.75 per cent) were abnormal. All the chromosomally abnormal fetuses had major congenital malformations. These data suggest that in a perinatal death, the presence of a single umbilical artery does not clinically alter the a priori risk of cytogenetic abnormalities.

Chromosome Aberrations↗
PubMed1994

Placental metastases in a patient with recurrent breast carcinoma.

We present an unusual case of extensive placental micrometastases of recurrent breast carcinoma. The discrepancy between the gross and histopathologic findings in this case suggests that in the absence of gross metastases, meticulous microscopic examination may reveal a higher incidence of metastases than has been reported previously.

Adult↗
PubMed1994

Effectiveness of combining maternal serum alpha-fetoprotein and hCG in a second-trimester screening program for Down syndrome.

OBJECTIVE: To evaluate the efficacy of combining hCG and alpha-fetoprotein (AFP) with maternal age in a two-analyte maternal serum screening program for Down syndrome. METHODS: A prospective study involved the screening of 12,170 maternal sera from patients at 14-25 weeks of gestation. The risk for Down syndrome at term was calculated from maternal serum hCG and AFP, and maternal age. For women 36 years of age and younger, a risk of 1:307 or greater was considered screen-positive. For women over 36, a risk greater than that a priori was considered screen-positive. False-positive rates and detection rates were compared with those resulting from a screening protocol using only AFP and age. RESULTS: Seven hundred eighty-two sera were initially screen-positive (6.4%). Subsequent sonography decreased this total to 687 (5.6%), and 467 (3.8%) of these patients accepted amniocentesis. Ten cases of Down syndrome and seven other chromosomal abnormalities were detected. Follow-up investigations revealed eight additional Down syndrome cases that were missed by screening. The identification of 18 Down syndrome cases in 12,170 pregnancies corresponds closely with the prediction of 14.1 Down syndrome births (18.2 second-trimester fetuses) in this population calculated from age-dependent risks. The detection rate for Down syndrome was 56% (ten of 18 expected cases). Only five of 18 (28%) would have been detected by AFP and age alone. CONCLUSION: These results support the mathematical model that hCG is the major contributor to the increased sensitivity of multi-analyte screening and demonstrate that screening programs can attain substantial improvement in detection of second-trimester Down syndrome by adding hCG to AFP and age.

Adolescent↗
PubMed1994

Second-trimester maternal serum alpha-fetoprotein, unconjugated estriol, and hCG levels in pregnancies with ventral wall defects.

OBJECTIVE: To determine if second-trimester maternal serum concentrations of unconjugated estriol (E3) and hCG are altered in pregnancies associated with fetal gastroschisis or omphalocele. METHODS: Concentrations of alpha-fetoprotein (AFP), unconjugated E3, and hCG were measured in a case-control study involving 23 cases of gastroschisis, 17 cases of omphalocele, and 200 matched unaffected pregnancies. RESULTS: As reported previously, median AFP levels were significantly higher in pregnancies with gastroschisis and omphalocele compared to unaffected pregnancies (9.42 and 4.18 multiples of the unaffected population median [MoM], respectively). The median hCG values were not significantly different for the two defects (1.10 and 1.13 MoM, respectively). Six of the cases of omphalocele were associated with other anomalies, but exclusion of these cases from the analysis did not alter the conclusions. CONCLUSIONS: Unconjugated E3 and hCG measurements are not useful in screening for, or distinguishing between, open ventral wall defects. Alpha-fetoprotein measurements alone will detect nearly all cases of gastroschisis and most cases of omphalocele.

Abdominal Muscles↗
PubMed1993

Maternal serum biochemical markers in pregnancies with fetal parvovirus B19 infection.

Hydrops fetalis and fetal death caused by fetal parvovirus B19 infection have been reported to be associated with elevated maternal serum alpha-fetoprotein (AFP), based on a total of six cases. It has been suggested that the absence of AFP elevation may be reassuring. Maternal serum levels of the Down syndrome screening markers unconjugated oestriol and human chorionic gonadotropin in cases of fetal parvovirus infection have not been previously reported. We report four cases of hydrops fetalis and fetal death caused by fetal parvovirus infection, each with unremarkable second-trimester levels of AFP, unconjugated oestriol, and human chorionic gonadotropin.

Erythema Infectiosum↗
PubMed1993

Maternal serum screening for aneuploidy and open fetal defects.

The application of population-based maternal serum screening to prenatal diagnosis has been shown to be practical and is now wide-spread. It has been estimated that more than 40% of genetics programs in the United States that offer second trimester maternal serum screening now use at least one analyte in addition to AFP (Dr. George J. Knight, personal communication). The studies described here suggest that additional refinements in maternal serum screening are not only possible but inevitable. The use and interpretation of the analytes AFP, uE3, and hCG continue to be examined and expanded upon (Table 1). In the future, it seems logical that other analytes may be added or may replace one or more of these currently used markers. We have demonstrated that with AFP, uE3, and hCG, a separate protocol will identify a significant portion of trisomy 18 fetuses with a minimal increase in the number of amniocenteses performed. Other significant aneuploidies, including Turner syndrome and triploidy, will be identified in screening for Down syndrome and trisomy 18. Although separate screening protocols for the detection of Turner syndrome and triploidy would not be of practical value, their detection within a screening protocol for Down syndrome is an added benefit and increases the value of the screening markers. The use of first trimester screening is being investigated. Although earlier diagnosis is attractive, routine first trimester screening for aneuploidy would necessitate the creation of an entirely new protocol for the collection of maternal serum samples and their interpretation, as well as a second round of screening for open fetal defects during the early second trimester. In contrast, an advantage of the current protocols is that screening for both types of abnormalities is possible using the same serum sample. Although research may eventually demonstrate that first trimester screening is technically feasible, an evaluation of the logistics of such screening may show it to be impractical. Obstetric implications of elevations and decreases in the new serum markers have not yet been studied carefully. It is logical, however, that just as with abnormal AFP (not explainable on a genetic basis), extreme levels of uE3 and hCG may also be associated with particular obstetric problems. Information on such deviations in analyte levels is just beginning to emerge. Finally, the study of maternal serum markers may contribute to an understanding of placental function in the second trimester, and ultimately advance our understanding of the underlying pathophysiologies of various fetal chromosomal and morphologic defects.(ABSTRACT TRUNCATED AT 400 WORDS)

Aneuploidy↗
PubMed1993

Do women grieve after terminating pregnancies because of fetal anomalies? A controlled investigation.

OBJECTIVE: To test the hypothesis that grief responses do not differ between women who terminate their pregnancies for fetal anomalies and women who experience spontaneous perinatal losses. METHODS: A case-control study was conducted. Twenty-three women who underwent terminations through the genetics service of a tertiary referral obstetric hospital from January 1991 to April 1992 were assessed psychiatrically 2 months after the termination. The grief responses of these women on the Perinatal Grief Scale and the Beck Depression Inventory were compared to a demographically similar group of women assessed 2 months after they experienced spontaneous perinatal loss. Differences between the groups were assessed through one-way analysis of covariance. RESULTS: After matching women in the two groups, it became clear that women who terminated for fetal anomalies were significantly older than women in the comparison group, and age was inversely correlated with intensity of grief. Therefore, age was covaried in comparing the grief responses of women in the two groups. Neither statistically significant nor clinically meaningful differences were found in symptomatology between the groups. By the time of assessment, four of 23 women (17%) who terminated their pregnancies were diagnosed with a major depression, and five of 23 (22%) had sought psychiatric treatment. CONCLUSIONS: Women who terminate pregnancies for fetal anomalies experience grief as intense as those who experience spontaneous perinatal loss, and they may require similar clinical management. Diagnosis of a fetal anomaly and subsequent termination may be associated with psychological morbidity.

Abortion, Eugenic↗
PubMed1992

Prenatal screening for Down's syndrome with use of maternal serum markers.

BACKGROUND: Approximately 35 percent of all cases of Down's syndrome in fetuses can be detected by measuring maternal serum alpha-fetoprotein during the second trimester in the general population of pregnant women. Recent case-control studies indicate that this detection rate could be approximately doubled by measuring serum levels of unconjugated estriol and chorionic gonadotropin, which are abnormally low and abnormally high, respectively, in women carrying fetuses affected by Down's syndrome. METHODS: We prospectively screened 25,207 women and adolescents in the second trimester of pregnancy and assigned each a risk of fetal Down's syndrome with an algorithm that took into account measurements of all three serum markers in combination with maternal age. On this basis, 1661 subjects (6.6 percent) were initially assigned a second-trimester risk of fetal Down's syndrome of at least 1 in 190, and 962 (3.8 percent) were offered amniocentesis for chromosomal analysis after verification of gestational age. Gestational age was determined on the basis of the first day of the last menstrual period or, when available, by ultrasonography. RESULTS: Among the 760 women and adolescents who chose amniocentesis, 20 cases of fetal Down's syndrome were detected, along with 7 other chromosomal disorders. There was 1 additional case of fetal Down's syndrome among the 202 women who chose not to have amniocentesis. The rate of detection of Down's syndrome was thus 58 percent (21 of 36 expected cases), and the frequency of identifying a fetus with Down's syndrome in women undergoing amniocentesis was 1 per 38 amniocenteses (95 percent confidence interval, 1 in 25 to 1 in 62). CONCLUSIONS: Measuring serum alpha-fetoprotein, chorionic gonadotropin, and estriol is more effective in screening for fetal Down's syndrome than measuring maternal serum alpha-fetoprotein alone. Such an expanded protocol can readily be incorporated into existing prenatal screening programs.

Adolescent↗
PubMed1992

Prospective intervention trial of a screening protocol to identify fetal trisomy 18 using maternal serum alpha-fetoprotein, unconjugated oestriol, and human chorionic gonadotropin.

Two prenatal centres in New England, routinely using a screening protocol for fetal Down syndrome that included maternal serum alpha-fetoprotein (AFP), unconjugated oestriol (uE3), and human chorionic gonadotropin (hCG) measurements in combination with maternal age, adopted a separate screening protocol for trisomy 18. That protocol identified a pregnancy as being at high risk when AFP, uE3, and hCG measurements all fell at or below specified cut-offs (0.75, 0.60, and 0.55 multiples of the median, respectively), regardless of maternal age. Among the first 19,491 women screened, 98 (0.5 per cent) were found to have values which placed them in the high-risk category. Four of these women were subsequently found not to be pregnant. In two others, samples from non-pregnant individuals were found to have been incorrectly submitted for analysis in place of the samples from the pregnant women. All of the remaining 92 women were counselled and offered amniocentesis and fetal karyotyping. Eighty-eight (96 per cent) accepted. Karyotypes or birth outcomes were available on all 92 pregnancies. Six cases of trisomy 18 and one case of Turner syndrome were identified by karyotype. One case of trisomy 18 was identified for every 14 unaffected pregnancies offered amniocentesis. In the present prospective study, an estimated 85 per cent of the cases of trisomy 18 were identified. However, given the small number of cases (six), the 95 per cent confidence interval for the detection rate is broad (40-95 per cent).

Adult↗
PubMed1992

Multiple-marker screening in pregnancies with hydropic and nonhydropic Turner syndrome.

OBJECTIVE: The combination of maternal serum alpha-fetoprotein, unconjugated estriol, and human chorionic gonadotropin levels and maternal age has been used to increase the sensitivity of screening for fetal Down syndrome and trisomy 18 in early-second-trimester pregnancies. We hypothesized that a unique pattern of these analytes also may be characteristic of fetal Turner syndrome, with or without hydrops. STUDY DESIGN: We studied preamniocentesis, second-trimester maternal serum specimens from seven hydropic and eight nonhydropic cases of fetal Turner syndrome. Clinical and pathologic records were reviewed. Statistical analysis of the data was performed by the rank sum test. RESULTS: In both hydropic and nonhydropic cases, alpha-fetoprotein levels were slightly reduced, and unconjugated estriol levels were markedly reduced. In hydropic pregnancies human chorionic gonadotropin levels were elevated, and nonhydropic pregnancies had low human chorionic gonadotropin levels (p = 0.001). CONCLUSIONS: The results suggest that the morphologic defect of hydrops, rather than the aneuploidy itself, is responsible for the elevation in human chorionic gonadotropin. In conjunction with the low unconjugated estriol levels, the elevation in human chorionic gonadotropin levels will result in the prenatal identification of hydropic fetal Turner syndrome pregnancies as being at increased risk for fetal Down syndrome.

Biomarkers↗
PubMed1990

The association of single umbilical artery with cytogenetically abnormal pregnancies.

The clinical significance of the absence of one of the two umbilical arteries (single umbilical artery) lies in its association with congenital malformations. Whether this association includes cytogenetic abnormalities is less clear. A retrospective review of all detected chromosomally abnormal pregnancies at the University of Maryland was carried out. Of 109 cytogenetically abnormal pregnancies, the number of umbilical cord vessels could be documented in 53 cases. Six (11.3%) had a single umbilical artery. A single umbilical artery was noted in two of nine fetuses (22.2%) with trisomy 18 and in two of six fetuses (33.3%) with trisomy 13. Two other unusual chromosomal constitutions were noted in cases of a single umbilical artery. None of the 11 fetuses with sex chromosome abnormalities (including eight with monosomy X) had a single umbilical artery. Of 18 fetuses with trisomy 21, none had a single umbilical artery. This study suggests that a single umbilical artery is preferentially associated with certain karyotypic abnormalities and that trisomy 21 does not appear to be associated with a single umbilical artery.

Amniocentesis↗
PubMed1990

Tocolysis in the management of third trimester bleeding.

Fifteen patients were identified in a retrospective analysis of one institution's experience with the use of tocolysis in selected patients with an admission diagnosis of placenta previa or abruptio placentae. There were no fetal deaths after admission, and the two neonatal deaths were related to prematurity. Eight of the 15 patients receiving tocolysis had their pregnancies prolonged by 2 weeks or more, and there were no fetal or neonatal deaths in this group. Both neonatal deaths occurred in patients who underwent tocolysis but who gave birth within 1 day of admission. These data suggest the safety of tocolysis in preterm patients with the diagnosis of placenta previa or abruption who are bleeding. A prospective, randomized trial is required to evaluate whether tocolysis is superior to expectant management or to immediate delivery. The clinical difficulty in differentiating between these two diagnoses, despite liberal use of ultrasonography, is discussed.

Abruptio Placentae↗