Reducing the Need for Amniocentesis in Women 35 Years of Age or Older with Serum Markers for Screening

Haddow, James E.; Palomaki, Glenn E.; Knight, George J.; Cunningham, George C.; Lustig, Linda S.; Boyd, Patricia A.

doi:10.1056/nejm199404213301603

Cited by 205 publications

(88 citation statements)

References 19 publications

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“…Second-trimester maternal serum samples from Down syndrome and unaffected pregnancies were collected as part of a previous Maternal and Child Health-sponsored trial (MCJ-237014) between 1990 and 1992 (12 ). Briefly, 14 prenatal diagnostic centers in California and elsewhere in the United States recruited women already scheduled to have an amniocentesis between 14 and 21 weeks of gestation, usually because of advanced maternal age.…”

Section: Methodsmentioning

confidence: 99%

Maternal Serum Invasive Trophoblast Antigen (Hyperglycosylated hCG) as a Screening Marker for Down Syndrome during the Second Trimester

et al. 2004

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Background: Approximately two million pregnancies in the United States are screened for Down syndrome annually by use of second-trimester maternal serum markers. At present, a combination of four markers can identify 75% of affected pregnancies when 5% of screened women are classified as candidates for amniocentesis. Although not currently included in screening panels, invasive trophoblast antigen (ITA) is a promising screening marker in serum or urine in both the second and first trimesters. This study aims at better defining the screening performance of serum ITA in the second trimester. Methods: In an earlier study, serum samples from an unbiased sampling of 45 Down syndrome (cases) and 238 unaffected (control) pregnancies between 14 and 20 weeks of gestation were collected from various centers in the United States. Samples were aliquoted and stored at ؊20°C for 8 years. We measured ITA in these samples and determined the screening performance both univariately and in combination with other screening markers. Results: The median ITA in Down syndrome pregnancies was >3.00 multiples of the median, higher than that found for human chorionic gonadotropin (hCG) or free ␤-hCG. At a 5% false-positive rate, ITA univariately detected 38% and 40% of Down syndrome pregnancies, respectively, when assigned by date of last menstrual period or ultrasound date. Modeling yielded rates of 45% and 48%. ITA correlated strongly with hCG and

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Section: Methodsmentioning

confidence: 99%

Maternal Serum Invasive Trophoblast Antigen (Hyperglycosylated hCG) as a Screening Marker for Down Syndrome during the Second Trimester

et al. 2004

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“…Among immunoassays, RIA, enzyme immunoassay (EIA), and ELISA have been developed and applied in screening for Down syndrome since the 1980s (6,21,22 ). Serum screening has shown to be cost-effective for detecting Down syndrome (23 ) and can reduce the need for invasive amniocentesis (24,25 ). However, recent studies revealed poor accuracy and imprecision of RIA in measuring uE 3 compared with results obtained from liquid chromatographytandem mass spectrometry (LC-MS/MS) analyses, and poor agreement of uE 3 concentrations was observed between RIA and chemiluminescent immunoassay methods (26,27 ).…”

mentioning

confidence: 99%

Measurement of Unconjugated Estriol in Serum by Liquid Chromatography–Tandem Mass Spectrometry and Assessment of the Accuracy of Chemiluminescent Immunoassays

et al. 2014

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BACKGROUND Unconjugated estriol (uE3) is routinely analyzed in clinical laboratories as risk assessment for Down syndrome. Immunoassays of various types are the most commonly used methods. The accuracies of RIAs and ELISAs for uE3 have been questioned, and to date there have been no independent studies investigating the accuracy of the relatively new chemiluminescent immunoassays. We developed and validated a liquid chromatography–tandem mass spectrometry (LC-MS/MS) method for uE3 measurements in serum. METHODS Serum samples from patients in the second trimester of pregnancy were used, and uE3 concentrations were measured by LC-MS/MS and the Beckman Coulter Access® 2 and Siemens IMMULITE 2000 automatic chemiluminescent immunoassay analyzers. RESULTS The LC-MS/MS method was validated and showed limit of detection 0.05 ng/mL; limit of quantification 0.2 ng/mL; linearity of response to 32 ng/mL; total imprecision of 16.2%, 10.4%, and 8.2% for uE3 at 1.10, 4.18, and 8.32 ng/mL, respectively; and analytical recoveries of 95.9%–104.2%. ANOVA of the correlation for LC-MS/MS results vs chemiluminescent immunoassays results showed R2 = 0.9678 (Access 2 = 0.9305 LC-MS/MS + 0.2177, Sy|x = 0.1786, P < 0.0001), and R2 = 0.9663 (IMMULITE 2000 = 0.8849 LC-MS/MS − 0.0403, Sy|x = 0.1738, P < 0.0001). Bland–Altman plots of uE3 results revealed concentration-dependent immunoassay biases. Mock risk analysis for Down syndrome showed no apparent difference in the risk assessment outcomes if the adjusted method-specific multiples of the median were used, and the assay imprecision was <10% CV. CONCLUSIONS Standardization of immunoassay methods for uE3 analysis is needed to improve the accuracy of the measurements.

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“…This is probably due to abnormal division of the egg, called no disjunction. The traditional age at which a woman is considered to be at high risk for chromosomal abnormalities is 40 and also miscarrying which is the loss of pregnancy before 20 weeks gestation [14].…”

Section: Introduction and Literature Reviewmentioning

confidence: 99%

“…The clinical implication of MS-AFP are elevated in cases of neural tube defects, underestimation of gestational age, threatened spontaneous abortion, and as increased placental transfer also occur in multiple pregnancies and low MS-AFP is associated with log standing fetal death, down syndrome, tiresome 13, tiresome 18, and pseudo pregnancy [14]. Interfering factors, obesity cause low MS-AFP, race (higher in black from 10% to15% low in Asian and also insulin dependent diabetes mellitus results in low MS-AFP.…”

Section: Introduction and Literature Reviewmentioning

confidence: 99%

Maternal Serum Triple Screening Test and Pregnancy Outcome in Elderly Sudanese Pregnant Ladies in Khartoum State-Sudan

Gurashi¹,

Fadl-Elmula²

2017

AJLM

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Abstract:The possibility to deliver infants with congenital defects or diseases is thought to be associated with increased in maternal age. This fact is well established and documented in previous studies done in the United States of America. Infants with birth defects is not the only disastrous outcome, pregnancy and delivery complications, abortion, stillbirth are also known consequences. The aim of this study, to detect a possible association between increased maternal age, and Triple Screening Test results. And compare the findings of the Triple Screening Test results with abnormal pregnancy outcome among Sudanese pregnant ladies. Study performed in ninety-one pregnant ladies accepted to participate. Participants were assigned to two groups; study group including 69 (75.8%) women equal to and above 35 years and control group including 22 (24.2%) women less than 30 years. Structured questionnaire, clinical examinations including ultra-sound for the determination of gestational age were also performed. Blood samples were collected from all participants during the 14 th to 20 th week of gestational age. Sera were separated and used for the determination of human chorionic gonadotropin, alpha fetoprotein, and free estriol concentrations using standardized quantitative methods (ELISA) collectively known as the Triple Screening Test. In the study group, participants delivered 57 (82.6%) normal healthy infants. Twelve ladies (17.4%) delivered infants with adverse dimorphic features. The defects varied; four (5.8%) had stillbirth, four (5.8%) had abortion at the second trimester, three (4.3%) had premature delivery, and one (1.4%) had intrauterine death. And matching control group, none of the participants (0%) give birth to an infant with congenital defect. Highly significant positive correlation was detected between increase in maternal age and abnormal pregnancy outcome. The Triple Screening Test against the pregnancy outcome in study group, showed statistically significant differences between levels of β-HCG, AFP, and Free estriol and pregnancy outcomes with Pvalues of 0.000, 0.5240, and 0.000 were obtained using Pearson Chi-squire test of significance, respectively. Study conclude that abnormal pregnancy outcome is strongly associated with increase in maternal age. Also there were strongly association between the Triple Screening Test and abnormal pregnancy outcome.

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Reducing the Need for Amniocentesis in Women 35 Years of Age or Older with Serum Markers for Screening

Abstract: Prenatal screening of serum to generate individual estimates of the risk of Down's syndrome in the fetus can provide a basis for decision making in the cases of women 35 years of age or older, as it does in younger pregnant women, and is an alternative to current testing practices.

Cited by 205 publications

References 19 publications

Maternal Serum Invasive Trophoblast Antigen (Hyperglycosylated hCG) as a Screening Marker for Down Syndrome during the Second Trimester

Maternal Serum Invasive Trophoblast Antigen (Hyperglycosylated hCG) as a Screening Marker for Down Syndrome during the Second Trimester

Measurement of Unconjugated Estriol in Serum by Liquid Chromatography–Tandem Mass Spectrometry and Assessment of the Accuracy of Chemiluminescent Immunoassays

Maternal Serum Triple Screening Test and Pregnancy Outcome in Elderly Sudanese Pregnant Ladies in Khartoum State-Sudan

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