Maternal Serum Screening Results Research Articles

Balanced Reciprocal Translocations Detected at Amniocentesis

To present perinatal findings, modes of ascertainment and parental decision in balanced reciprocal translocations detected at amniocentesis. Between January 1987 and August 2010, 82 cases with a simple reciprocal translocation, two cases with two separate simple reciprocal translocations and three cases with a complex chromosome rearrangement (CCR) were diagnosed by amniocentesis at Mackay Memorial Hospital, Taipei, Taiwan. The 87 cases originated from 76 families; 65 families with one case and 11 families with two cases. In the 76 families, the main modes of ascertainment included advanced maternal age (n=38), a previous child with an unbalanced reciprocal translocation (n=11), recurrent miscarriage (n = 9), abnormal maternal serum screening results (n = 9), elective causes (n = 5), a previous child with congenital anomalies (n =2) and abnormal ultrasound findings (n = 2). In these families, there were 17 (22.4%) de novo cases including 14 simple translocations and three CCRs. Of 14 de novo cases with a simple translocation, one (7.1%) manifested a congenital malformation, which was related to an X-autosome translocation, and four (28.6%) were terminated. Of three de novo CCRs, two manifested congenital anomalies and one was terminated. In 87 cases, additional aneuploidy was noted in two cases including one inherited simple translocation with Turner syndrome, and one de novo CCR with concomitant deletions and duplication. Balanced reciprocal translocations detected at amniocentesis may be associated with fetal anomalies in cases of concomitant aneuploidy, de novo X-autosome translocation or de novo CCR. Genetic counseling of a de novo simple reciprocal translocation at amniocentesis remains difficult because approximately one-fourth of the parents opt for termination of the pregnancy, and detailed ultrasonography and array comparative genomic hybridization are helpful for parental counseling under such circumstances.

Steroid sulfatase deficiency and contiguous gene deletion syndrome amongst pregnant patients with low serum unconjugated estriols

To ascertain all prenatally diagnosed cases of Steroid Sulfatase (STS) deficiency in British Columbia between August 2002 and July 2007 to determine the incidence of this condition, the clinical and laboratory findings, and the risk of a contiguous gene deletion syndrome. We reviewed the medical records of these patients to obtain detailed information about the maternal serum screening results, family history, investigations performed, and outcome of the pregnancy. Thirty pregnant patients were found to have a male fetus/infant with STS deficiency, giving a minimal estimated incidence of this condition of approximately 1 in 1513 males. In twenty nine cases, this condition was isolated. One patient was found to have a contiguous gene deletion syndrome. In cases of sporadic STS deficiency diagnosed prenatally, the frequency of contiguous gene deletion syndrome in this study was 1 out of 12 (8.3%). The clinical, cytogenetic and molecular data on this series of prenatally diagnosed cases of STS deficiency indicates that this is a common condition and in cases with no family history, the risk of contiguous gene deletion syndrome is significant, and warrants additional molecular genetic investigations of the mother and/or fetus.

Clinical and Cytogenetic Findings on 31,615 Mid-trimester Amniocenteses

Since amniocentesis made prenatal diagnosis feasible in 1967, the method has become a popular tool in obstetric practices. In Korea, the demand for genetic counseling and prenatal tests has increased markedly because the number and proportion of pregnancies in women aged 35 yr and older have increased over a 20-yr period. Here we report clinical and cytogenetic findings on 31,615 mid-trimester amniocenteses. To investigate the changes in the annual number of amniocentesis, distribution of indications and age, and cytogenetic findings and abnormality rate according to indications, this study retrospectively analyzed 31,615 cases of mid-trimester amniocentesis performed at Seoul Clinical Laboratories, an independent medical laboratory center, during the past 13 yr (1994-2007). The annual number of amniocenteses has increased substantially since 1994. Among the 31,615 amniocentesis cases, the maternal age between 30 and 34 yr was the most common age group (35.4%). Among clinical indications, abnormal maternal serum screening results have been the most common indication for amniocentesis since 1994. Chromosomal abnormalities were detected in 973 cases (3.1%). Down syndrome was the most common abnormality found (36.9%, 359/973). In sex chromosomal abnormalities, 53 cases of Turner syndromes, 32 cases of Klinefelter syndromes, 20 cases of triple X syndromes, and 15 cases of 47,XYY were diagnosed. Of structural rearrangements, reciprocal translocations between two autosomes were the most common (15.5%, 151/973). Abnormal ltrasonographic findings showed the highest positive predictive value (5.9%) among the clinical indications. The present study could be used for the establishment of a database for genetic counseling. The discovery of an abnormality provides the option of termination or continuation in the pregnancy, a more suitable obstetric management in Korea.

What about Informed Consent in First-Trimester Ultrasound Screening for Down Syndrome?

Objectives: We evaluate the level of information and informed consent given for the screening of Down syndrome (DS) before the first-trimester ultrasound scan. We evaluate the nature of the medical information given and the patient’s understanding. This makes it possible to analyze the existence of the necessary elements (level of information and consent) for the patients to exercise their autonomy as to their decision making during the first-trimester ultrasound scan. Methods: A total of 350 patients were recruited prospectively in 2 hospitals. Patients were divided into 3 groups according to the results of maternal serum screening for DS. Group 1: Patients at high risk of having a child with DS with the second-trimester maternal serum screening (MSS) (risk >1/250). Group 2: Patients having a low risk (risk <1/250). Group 3: Patients who did not undergo maternal serum screening test. A questionnaire was completed before the medical consultation, to assess the quality of the medical consultation before the ultrasound, the level of prior knowledge and the maternal consent. Results: We excluded 45 of the 350 questionnaires from the analysis because they were incomplete (13.1%). We therefore analyzed a total of 305 questionnaires. The three groups analysed were: Group 1: 89 patients (29.2%) identified as at high risk after MSS. Group 2: 137 patients (44.9%) identified as at low risk accordingly to MSS. Group 3: 79 women (25.9%) who did not undergo maternal serum screening test for diverse reasons. The frequency of genuine informed consent was significantly (p < 0.001) higher in group 3 (56.9%) than in group 1 (52.8%) or group 2 (32.1%). Finally, the number of completely uninformed patients was significantly higher in group 2 (18%) than in the other two groups (7.8% for group 1 and 6.3% for group 3, p < 0.001). With multiple regression analysis, we found that maternal consent depended on 4 independent components: (1) Educational level (<baccalaureate, baccalaureate or at least 2 years of higher education after baccalaureate) (p < 0.03). (2) The location of consultations (hospital or private doctor’s practice) (p < 0.01). (3) History of medical termination (p < 0.001). (4) The score attributed to the doctor for information about early ultrasound scans (p < 0.001). The rate of consent increased with increasing educational level and was higher for women consulting at a hospital, for women with a history medical termination and for women whose doctors had a high score. Other criteria such as belonging to group 1, 2 or 3, age of the patient, first language, number of children, history of miscarriage, sex and age group of the professionals were not found significant. Conclusions: The response to the question ‘Is the level of medical information provided to patients concerning early screening by first-trimester ultrasound scans appropriate?’ is ‘no’. There is no difference in our result according to social-economic level. However, educational level (66% consent for patients with 2 years of higher education after the baccalaureate), a history of medical termination (85% consent), being followed at a hospital (77% consent) and the score of the doctor (71% consent) were all significantly associated with the level of consent to prenatal screening. It is difficult for patients to exercise their autonomy as concerns first-trimester ultrasound scans. Too many patients (82%) consider such scans to be compulsory. Overall, the level of knowledge of the patients was moderate, with 227 of the 305 patients (74%) having a satisfactory knowledge score (≧10). The negative responses to the various questions calls into question the legitimacy of consent for first-trimester ultrasound scans, particularly as concerns the measurement of nucal translucency.

The maternal self in pregnant women undergoing maternal serum screening

Much has been written about the anxiety of pregnant women undergoing maternal serum screening, but little has focused on the maternal self. The purpose of this study was to explore how the maternal self was affected by abnormal results of prenatal screening. Design. A qualitative design was used, based upon a grounded theory method. Twenty-seven women undergoing maternal serum screening engaged in qualitative interviews about how abnormal results affected them and their family life. This study identified three forms of maternal self in women who had been informed of abnormal results of maternal serum screening. The three forms of maternal self could be described as self-stigmatizing, self-conflicting and self-knowledgeable. The self-stigmatizing and self-conflicting resulted from painful body image. The pregnant women responded to this vulnerability by reflecting on their experiences and constituting self-knowledgeable. This study demonstrated that ethical issues were implicit in prenatal counselling in terms of various forms of maternal self. Understanding the self-perceptions of pregnant women coping with an increased risk of Down Syndrome could be very significant in delivering prenatal genetic counselling.

Detection of Chromosome Aberrations in the Second Trimester Using Genetic Amniocentesis: Experience During 1995-2004

To retrospectively investigate the 10-year experience of prenatal diagnosis of fetal chromosome aberrations by second-trimester amniocentesis. Data were collected at Taichung Veterans General Hospital between 1995 and 2004 from cytogenetic analyses of cultured amniocytes from second-trimester amniocentesis. The main indications for amniocentesis included advanced maternal age, abnormal maternal serum screening results, and abnormal ultrasound findings. Chromosome aberrations included autosomal aneuploidies, sex chromosome aneuploidies, polyploidies, and rearrangements. Variant chromosomes were considered to be normal and excluded. A total of 7,028 amniocenteses were performed and analyzed for chromosome aberrations. Among these, 4,026 (57.29%) were for advanced maternal age, 1,500 (21.34%) for abnormal maternal serum screening results, 553 (7.87%) for abnormal ultrasound findings, and 949 (13.50%) for other reasons. The highest detection rate of chromosome aberrations was in cases undergoing amniocentesis for abnormal ultrasound findings (8.86%), followed by other reasons (2.74%), abnormal maternal serum screening results (2.60%), and advanced maternal age (2.31%). Chromosome aberrations were detected in 207 cases (2.90%), including fetuses of 93 older mothers, 39 mothers with abnormal serum screening results, 49 mothers with abnormal ultrasound findings, and 26 mothers with other reasons for amniocentesis. Of fetuses with chromosome aberrations, 144 (69.56%) had trisomy 13, trisomy 18, trisomy 21, or sex chromosome disorder. The other 63 cases (30.44%) included balanced translocation, unbalanced abnormality, inversion, and marker chromosome. For daily practice, our data could offer a database for proper genetic counseling, such as termination issues and future pregnancies.

Ultrasound detection of placental insufficiency in women with ‘unexplained’ abnormal maternal serum screening results

Serious placental insufficiency results in perinatal death or preterm birth from ischemic-thrombotic pathology, a process which has its origins in placental maldevelopment in the first trimester. A proportion of at-risk pregnancies may be identified from abnormalities in first or second trimester serum screening data, uterine artery Doppler waveforms or placental shape and texture at the time of the 18-20-week anatomical examination. In combination, these tests may be capable of recognizing a subset of at-risk pregnancies with 50% positive predictive values. Early recognition before fetal viability affords opportunities to direct women to regional perinatal care centres for enhanced maternal-fetal surveillance, corticosteroids to enhance fetal lung maturation, prophylactic measures to prevent pre-eclampsia and optimal decision making around the time of delivery. The creation of regional screening programs to use screening data with a placental focus is likely to be cost-effective, because existing patterns of care are utilized. More importantly, this strategy can direct women to participate in clinical research programs designed to reduce morbidity and mortality from this common group of conditions.

Second‐trimester diagnosis of trisomy 9 associated with abnormal maternal serum screening results

Prenatal DiagnosisVolume 25, Issue 10 p. 966-967 Letter to the Editor Second-trimester diagnosis of trisomy 9 associated with abnormal maternal serum screening results M. H. Quigg, Corresponding Author M. H. Quigg Department of Medical Genetics, Henry Ford Hospital, Detroit, MI, USADepartment of Medical Genetics, Henry Ford Hospital, Detroit, MI, USA.Search for more papers by this authorS. Diment, S. Diment Department of Medical Genetics, Henry Ford Hospital, Detroit, MI, USASearch for more papers by this authorJ. Roberson, J. Roberson Department of Medical Genetics, Henry Ford Hospital, Detroit, MI, USASearch for more papers by this author M. H. Quigg, Corresponding Author M. H. Quigg Department of Medical Genetics, Henry Ford Hospital, Detroit, MI, USADepartment of Medical Genetics, Henry Ford Hospital, Detroit, MI, USA.Search for more papers by this authorS. Diment, S. Diment Department of Medical Genetics, Henry Ford Hospital, Detroit, MI, USASearch for more papers by this authorJ. Roberson, J. Roberson Department of Medical Genetics, Henry Ford Hospital, Detroit, MI, USASearch for more papers by this author First published: 28 September 2005 https://doi.org/10.1002/pd.1278Citations: 5AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL No abstract is available for this article.Citing Literature Volume25, Issue10October 2005Pages 966-967 RelatedInformation

Suboptimal Second-Trimester Ultrasonographic Visualization of the Fetal Heart in Obese Women

The purpose of this study was to determine whether a repeated antenatal ultrasound examination improves fetal cardiac visualization for the obese and nonobese population. A computerized ultrasound database (October 1999-June 2003) was used to identify singleton pregnancies undergoing repeated prenatal ultrasound examinations because of initial suboptimal ultrasonographic visualization (SUV) of the 4-chamber view, outflow tracts, or both. Women with maternal diabetes, abnormal maternal serum screening results, or known fetal anomalies at the initial examination were excluded. Patients were classified by maternal body mass index (BMI): less than 30 kg/mg2 (nonobese), 30 to 34.9 kg/mg2 (class I obesity), 35 to 39.9 kg/mg2 (class II obesity), and 40 kg/mg2 or greater (morbid obesity). The association between maternal BMI and SUV of the fetal heart was analyzed. Three hundred seventy-two patients were abstracted from the database. The median gestational age was 19.0 weeks at the initial visit (range, 18.0-21.9 weeks) and 21.4 weeks at the second visit (range, 18.9-23.9 weeks). The median BMI was 32.6 kg/m2 (range, 16.4-58.7 kg/m2). Sixty-three percent of patients were obese (BMI >or=30). Cardiac anatomy continued to have SUV in 11% of the women. The rate of SUV was associated with the obesity class (1.5% for nonobese, 12% for obesity I, 17% for obesity II, and 20% for morbid obesity; P < .0001). A cardiac anomaly was found in 1 of 372 repeated examinations (arteriovenous canal defect) for a patient with BMI of 24.8 kg/m2. Repeated ultrasound examination for SUV of the fetal heart at a later gestational age dramatically reduces SUV. However, obese patients continue to have much higher rates of persistent SUV.

Impact of Second-Trimester Maternal Serum Screening on Prenatal Diagnosis of Down Syndrome and the use of Amniocentesis in the Taiwanese Population

Summary Objective To investigate the impact of second-trimester maternal serum screening on prenatal diagnosis of Down syndrome and the use of amniocentesis in the Taiwanese population. Materials and Methods From 1990 to 2000, 166,419 amniocenteses were analyzed cytogenetically in the Taiwanese population. Among these, 58.85% were for advanced maternal age, 4.5% for abnormal ultrasound findings, 26.17% for abnormal maternal serum screening results, 1.82% for a previous child with congenital anomaly, 1.02% for a family history of chromosome aberrations, and 7.63% for other purposes. Chromosome aberrations were detected in 4,217 cases (2.53%), of which 1,277 (30.28%) were Down syndrome. Of the Down syndrome cases, 65.86% were detected by amniocentesis for advanced maternal age, 5.95% for abnormal ultrasound findings, 21.14% for abnormal maternal serum screening results, 1.25% for a previous child with congenital anomaly, 1.18% for a family history of chromosome aberrations, and 4.62% for other purposes. Results There was a prominent increase in the number of women undergoing amniocentesis in the Taiwanese population between 1990 and 2000. There was an 8.9-fold increase in the number undergoing amniocentesis for advanced maternal age, a 6.3-fold increase in that for abnormal ultrasound findings, a 46.2-fold increase in that for abnormal maternal serum screening results, a 2.9-fold increase in that for a previous child with congenital anomaly, a 5.6-fold increase in that for a family history of chromosome aberrations, and a 4.4- fold increase in that for other purposes. There was also a 35.7-fold increase in the number of prenatally detected Down syndrome cases, from seven in 1990 to 250 in 2000. The highest rates of Down syndrome were found in cases with abnormal ultrasound findings (1/99 tests). Down syndrome was 0.72-fold as common in amniocenteses performed because of positive serum screening results (1/161 tests) compared with the rate seen in the advanced maternal age group (1/116 tests). The detection rates increased from 1/449 tests in 1990, through 1/198 tests, 1/203 tests, 1/158 tests, 1/215 tests, 1/229 tests, 1/169 tests, 1/143 tests, 1/90 tests, 1/92 tests, to 1/123 tests in 2000. Conclusion Both the number of women undergoing amniocentesis and the number of detected cases of Down syndrome increased during these years. Amniocentesis in this population no longer led to a significant improvement in the detection rate of Down syndrome. In view of the effective use of amniocentesis as a diagnostic procedure for Down syndrome, efforts should be made to use more efficient prenatal screening programs and to reduce the number of unnecessary amniocenteses.

The role of genetic counseling on decisions of pregnant women aged 35 years or over regarding amniocentesis in Turkey

We investigated the effects of genetic counseling given before amniocentesis that is given based on maternal serum screening (using the cut-off value of 1/250) and genetic sonogram results (± abnormal ultrasound marker) on pregnant women who are 35 years and older age. Their attitudes towards amniocentesis after genetic counseling were evaluated. Among 340 women, 223 (65.6%) were in the high-risk group and 117 (34.4%) were in the low-risk group according to non-invasive test results. After counseling, 216 pregnant women (167 cases have high-risk, 49 cases who had low-risk) decided to have amniocentesis while 124 women (56 with high-risk and 68 with low-risk) declined it. Fourteen abnormal karyotypes were detected. All pregnant women who had fetuses with chromosomal aberrations were in high-risk group. Our study shows that screening by non-invasive prenatal diagnostic tool has an effect on families’ choice of amniocentesis. The use of these test results during counseling decreased the number of amniocentesis in a ratio of 36.5%.

Recognition of Smith-Lemli-Opitz syndrome (RSH) in the fetus: Utility of ultrasonography and biochemical analysis in pregnancies with low maternal serum estriol

Smith-Lemli-Opitz syndrome (SLOS), or RSH, is an autosomal recessive disorder caused by mutations of the gene encoding 7-dehydrocholesterol reductase (DHCR7). The utility of maternal serum screens and ultrasound as prenatal screening methods for SLOS is presently undetermined. We report the clinical, cytogenetic, biochemical, and molecular findings of a stillborn with SLOS. The diagnosis was made postnatally on the basis of physical findings and confirmed by biochemical and DNA analyses of fetal tissue. Although abnormalities were detected by maternal serum triple screen and prenatal ultrasonography, a diagnosis of SLOS was not suspected before delivery. This study demonstrates that patients with SLOS may escape prenatal diagnosis despite the presence of multiple anomalies and abnormal maternal serum screen results, and lends support for consideration of prenatal biochemical testing for SLOS in pregnancies with these findings. As SLOS is a severe autosomal recessive disorder with a recurrence risk of 25%, ultrasonographic, cytogenetic, and biochemical analyses in the second trimester should be considered if abnormal maternal serum screening results, specifically low levels of unconjugated estriol, are detected.

The role of genetic counseling on decisions of pregnant women aged 35 years or over regarding amniocentesis in Turkey

Abstract We investigated the effects of genetic counseling given before amniocentesis that is given based on maternal serum screening (using the cut-off value of 1/250) and genetic sonogram results (± abnormal ultrasound marker) on pregnant women who are 35 years and older age. Their attitudes towards amniocentesis after genetic counseling were evaluated. Among 340 women, 223 (65.6%) were in the high-risk group and 117 (34.4%) were in the low-risk group according to non-invasive test results. After counseling, 216 pregnant women (167 cases have high-risk, 49 cases who had low-risk) decided to have amniocentesis while 124 women (56 with high-risk and 68 with low-risk) declined it. Fourteen abnormal karyotypes were detected. All pregnant women who had fetuses with chromosomal aberrations were in high-risk group. Our study shows that screening by non-invasive prenatal diagnostic tool has an effect on families’ choice of amniocentesis. The use of these test results during counseling decreased the number of amniocentesis in a ratio of 36.5%.

The impact of protease inhibitors on maternal serum screening analyte levels in pregnant women who are HIV positive

The purpose of this study was to compare alpha-fetoprotein, human chorionic gonadotropin, and unconjugated estriol levels in women who take protease inhibitors and those women who do not. This retrospective review from August 2000 to May 2003 was performed for maternal serum screen results, medication use, pregnancy, and perinatal outcomes. Thirty-nine women met study criteria. Sixteen women were treated with protease inhibitors, and 23 women were not treated with protease inhibitors. There was no difference in initial viral load or initial CD4 count between the groups. No difference was found for human chorionic gonadotropin and estriol levels; significantly lower alpha-fetoprotein multiples of the median were found for the women who were treated with protease inhibitors compared with the women who were not (0.97 +/- 0.32 [SD] MoM vs 1.2 +/- 0.4 MoM, respectively; P = .04). Six of 39 women (15%) had positive maternal serum screens. All the babies were normal at birth, and there were no cases of perinatal transmission of human immunodeficiency virus. Protease inhibitors are associated with lower alpha-fetoprotein levels in women who are infected with human immunodeficiency virus.

Genetic sonography: an option for women of advanced maternal age with negative triple-marker maternal serum screening results.

To determine whether offering genetic sonography to patients 35 years of age and older with negative maternal serum triple-marker screening results will result in an increase in the detection rate of trisomy 21. The detection rate of trisomy 21 was determined in women 35 years of age and older whose pregnancies were managed according to the following 3 policies: policy I, universal amniocentesis; policy II, maternal serum triple-marker screening followed by amniocentesis only in high-risk women (risk >1:190); and policy III, genetic sonography in women with negative maternal serum screening results (policy II). Policy III included the offering of genetic amniocentesis to patients with abnormal genetic sonographic findings. The rate of acceptance of genetic amniocentesis was modeled, as was the sensitivity (50%-90%) and false-positive rate (5%-25%) of genetic sonography. The number of fetuses expected to have trisomy 21 was 784. For patients evaluated under policy II, 86.3% of fetuses with trisomy 21 were detected. On the basis of the detection rate for trisomy 21 of policy II, the addition of fetuses with trisomy 21 identified under policy III was significantly (P < .01) increased (93.2% to 98.6%) for genetic sonographic sensitivities ranging between 50% and 90%. A policy of offering genetic sonography followed by amniocentesis to patients 35 years of age and older who originally had triple-marker maternal serum screening findings that were negative for the diagnosis of trisomy 21 results in a higher overall detection rate of trisomy 21.

Maternal serum α-fetoprotein and human chorionic gonadotropin levels in women with human immunodeficiency virus

Objective: The purpose of this study was to establish whether there is a correlation between maternal serum genetic screen analyte results in pregnant women with human immunodeficiency virus and corresponding human immunodeficiency virus index values. Study Design: Medical records of all pregnant women with human immunodeficiency virus who were delivered at Bronx Lebanon Hospital Center from January 2000 through December 2001 were reviewed for maternal serum screen results, viral load, CD4 counts and percent, antiretroviral therapy, opportunistic infections, substance abuse, and other demographic data. Statistical analysis was accomplished with the χ2 test, Mann-Whitney U test, and Spearman rank correlation test, with a probability value of <.05 considered significant. Results: Of the 98 women with human immunodeficiency virus who were delivered, 49 women (50%) had a maternal serum genetic screen available. Screened and unscreened women had similar severity of human immunodeficiency virus disease, CD4 count and percentage, and viral loads. Serum screen results showed elevations in maternal serum human chorionic gonadotropin (1.43 ± 1.04 multiples of the median [MoM]; range, 0.2-5.2 MoM) and maternal serum α-fetoprotein (1.29 ± 0.9 MoM; range, 0.5-3.3 MoM) compared with expected values in the general obstetric population. Maternal serum human chorionic gonadotropin was correlated inversely with CD4 count (P =.002) and CD4 percent (P <.0001). Maternal serum α-fetoprotein varied directly with viral load (P <.0001). Conclusion: Increasing maternal serum human chorionic gonadotropin and maternal serum α-fetoprotein levels in patients with human immunodeficiency virus are correlated with increasing viral load and decreasing CD4 counts. (Am J Obstet Gynecol 2003;188:1052-6.)

Double-positive maternal serum screening results for down syndrome and open neural tube defects: An indicator for fetal structural or chromosomal abnormalities and adverse obstetric outcomes

Objective: The study was designed to evaluate whether double positive maternal serum screening results for Down syndrome and open neural tube defects indicate an increased risk of adverse perinatal outcome. Study Design: A retrospective case-control study was conducted. In a cohort of 170,394 women who underwent maternal serum triple screening in Ontario, Canada, between October 1995 and September 1998, 189 women received positive screening results for both Down syndrome and neural tube defects. Each case was matched to 5 control subjects who had negative screening results for test center, maternal age, and specimen date. The risks for adverse perinatal outcomes were compared. Results: Women with double-positive screening results had significantly higher risks of having fetuses with structural abnormalities (odds ratio, 14.5) and chromosomal anomalies (odds ratio, 36.3). They also had higher risks of having preeclampsia (odds ratio, 6.7), small-for-gestational age (odds ratio, 9.7), preterm delivery (odds ratio, 5.9), miscarriage, and intrauterine fetal death (odds ratio, 11.8). Conclusion: Double-positive maternal serum screening results are associated with fetal structural and chromosomal abnormalities and/or adverse pregnancy outcomes. Close fetal and maternal surveillance are indicated when such pregnancies are identified. (Am J Obstet Gynecol 2002;187:758-63.)

Extreme second-trimester serum analyte values in Down syndrome pregnancies with hydrops fetalis

Objective: To compare second-trimester maternal serum analyte values in Down syndrome pregnancies with, and without, hydrops fetalis. Methods: Seven hydropic and 85 non-hydropic Down syndrome pregnancies were identified among women with positive second-trimester maternal serum screening results. Values for maternal serum α-fetoprotein (MSAFP), human chorionic gonadotropin (hCG), unconjugated estriol and inhibin-A, and risks for Down syndrome were compared using the non-parametric Mann-Whitney statistical test. Results: Hydropic Down syndrome pregnancies had significantly lower MSAFP and estriol concentrations, while hCG levels were higher. For subgroups of five hydropic and 42 non-hydropic cases, no statistically significant difference in the inhibin-A levels could be demonstrated. Conclusion: Second-trimester Down syndrome screening risks are significantly higher in affected pregnancies that are complicated by fetal hydrops.

Decisions about amniocentesis by advanced maternal age patients following maternal serum screening may not always correlate clinically with screening results: Need for improvement in informed consent process

We evaluated the prenatal diagnosis utilization patterns of advanced maternal age (AMA) patients who underwent serum screening to assess how screening results correlated with their decisions regarding amniocentesis. A 6-year review (1994-1999) of laboratory records identified 2,456 AMA patients who underwent multiple-marker serum screening. The relationship between screening results and patients' decisions on whether or not to undergo amniocentesis was assessed. Among the 841 AMA patients with positive screens, more than half (52%) declined amniocentesis. Of the 1,615 patients with negative serum screening results, 208 (13%) opted for amniocentesis. We concluded that decisions by AMA patients regarding amniocentesis may not always correlate clinically with maternal serum screening results. Possible explanations, including how the state of informed consent may or may not contribute to these decisions, are discussed. It is suggested that understanding the reasons for these decisions may identify opportunities for improving service delivery to all pregnant patients considering prenatal testing. Use of a questionnaire is proposed as one mechanism for gaining a clearer understanding of the possible factors contributing to AMA patient decisions.

Extreme second-trimester serum analyte values in Down syndrome pregnancies with hydrops fetalis

Objective: To compare second-trimester maternal serum analyte values in Down syndrome pregnancies with, and without, hydrops fetalis.Methods: Seven hydropic and 85 non-hydropic Down syndromepregnancies were identified among women with positive second-trimester maternal serum screening results. Values for maternal serum α-fetoprotein (MSAFP), human chorionic gonadotropin (hCG), unconjugatedestriol and inhibin-A, and risks for Down syndrome were compared using the non-parametric Mann-Whitney statistical test.Results: Hydropic Down syndrome pregnancies had significantly lower MSAFPand estriol concentrations, while hCG levels were higher. For subgroups of five hydropic and 42 non-hydropic cases, no statistically significant difference in the inhibin-A levels could be demonstrated.Conclusion: Second-trimester Down syndrome screening risks are significantly higher in affected pregnancies that are complicated by fetal hydrops.