Screening of Maternal Serum for Fetal Down's Syndrome in the First Trimester

Haddow, James E.; Palomaki, Glenn E.; Knight, George J.; Williams, Josephine; Miller, Wayne A.; Johnson, Anthony

doi:10.1056/nejm199804023381404

Cited by 217 publications

(90 citation statements)

References 38 publications

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“…This association emphasizes the importance of timely referral and rapid follow-up of positive test results. It also suggests that the introduction of earlier screening [28, 29]may be associated with a higher rate of utilization of amniocentesis or chorionic villi sampling among screen-positive patients.…”

Section: Discussionmentioning

confidence: 99%

Utilization of Amniocentesis by Women Screening Positive for Down Syndrome on the Second-Trimester Triple Test

Chen

Heffley

Beazoglou³

et al. 2000

Public Health Genomics

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Objective: Second-trimester maternal serum screening for Down syndrome has become widely accepted in the United States. However, many women with screen-positive results forgo definitive diagnostic testing that involves chromosomal analysis of amniotic fluid cells. We have reviewed 2,879 cases of women with screen-positive results in an effort to identify determining factors for the utilization of amniocentesis. Methods and Results: The lowest rate of utilization of amniocentesis was seen among very young women, with peak utilization among women of age 33. Although all women in the study had screen-positive results, amniocentesis was most likely to be performed when the patient-specific risk for an affected pregnancy was high. Black or Hispanic women were less likely to receive amniocentesis than white or Asian women. Amniocentesis utilization was also negatively associated with gestational age, maternal weight and an ultrasound examination prior to screening. A sharp decline in the utilization of amniocentesis was noted between 1993 and 1998. A logistic regression model was estimated to assess the independent effect of the variables. The model predicted 67% of the observed amniocenteses and had 66.6% concordance in the evaluation of paired cases with different response values. Conclusions: Our observations indicate that there are multiple medical, social and demographic factors that influence the utilization of amniocentesis by women with screen-positive results. Early screening and a prompt response to screen-positive results, together with accessible and appropriate genetic counseling, should assist women in making an informed choice.

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Section: Discussionmentioning

confidence: 99%

Utilization of Amniocentesis by Women Screening Positive for Down Syndrome on the Second-Trimester Triple Test

Chen

Heffley

Beazoglou³

et al. 2000

Public Health Genomics

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“…Therefore, not all pregnant women accept chromosomal analysis. Noninvasive screening tests, like sonographic measurement of nuchal translucency thickness or first and second trimester maternal serum screening, have been developed as alternatives (5)(6)(7)(8). By using these noninvasive screening tests, it is possible to select women with a high probability of a Down syndrome pregnancy who can then be offered invasive testing.…”

mentioning

confidence: 98%

Preimplantation genetic screening as an alternative to prenatal testing for Down syndrome: preferences of women undergoing in vitro fertilization/intracytoplasmic sperm injection treatment

Twisk

Haadsma

Veen

et al. 2007

Fertility and Sterility

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“…Pregnancy-associated plasma protein A (PAPP-A) and β-human chorionic gonadotropin (β- hCG) are used as first-trimester screening, while maternal serum α-fetoprotein (AFP), β-hCG, unconjugated estriol (uE 3 ), and inhibin A (InhA) comprise the standard second-trimester screening [17,18]. Among these biochemical markers, PAPP-A and InhA levels are associated with subsequent PE [19,20,21,22], but their predictive value for PE remains unclear.…”

Section: Introductionmentioning

confidence: 99%

Early Prediction of Hypertensive Disorders of Pregnancy Using Cell-Free Fetal DNA, Cell-Free Total DNA, and Biochemical Markers

Kim

Kim²,

Park³

et al. 2016

Fetal Diagn Ther

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Objective: To evaluate the predictive value of separate and combined tests using cell-free fetal DNA (cffDNA), cell-free total DNA (cfDNA), and biochemical markers for the early detection of pregnancies with hypertensive disorders. Methods: A nested case-control study was conducted with 135 singleton pregnancies including 17 gestational hypertension cases, 34 preeclampsia (PE) cases, and 84 controls. We performed real-time quantitative PCR to measure levels of DSCR3 and RASSF1A as cffDNA markers and HYP2 as a cfDNA marker in the first and early second trimesters. Levels of pregnancy-associated plasma protein A (PAPP-A), α-fetoprotein, β-human chorionic gonadotropin, unconjugated estriol, and inhibin A were also determined. Results: Compared with controls, the median levels and multiples of the median (MoM) values of HYP2 were significantly higher in the PE and hypertensive disorders of pregnancy (HDP) groups at 6-14 and 15-23 weeks. Frist-trimester PAPP-A MoM was significantly lower in PE and HDP than in controls. For PE and HDP, the best model included the first-trimester DSCR3, HYP2, and PAPP-A MoM values achieving detection rates of 67 and 58% at a fixed 10% false-positive rate, respectively [area under the receiver operating characteristic curve 0.832 (95% CI 0.689-0.928) for PE; 0.751 (0.607-0.863) for HDP]. Discussion: The study demonstrates the potential utility of combined first-trimester cffDNA, cfDNA, and PAPP-A for the early prediction of PE.

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Screening of Maternal Serum for Fetal Down's Syndrome in the First Trimester

Abstract: Screening for Down's syndrome in the first trimester is feasible, with use of measurements of pregnancy-associated protein A and either hCG or its free beta subunit in maternal serum.

Cited by 217 publications

References 38 publications

Utilization of Amniocentesis by Women Screening Positive for Down Syndrome on the Second-Trimester Triple Test

Utilization of Amniocentesis by Women Screening Positive for Down Syndrome on the Second-Trimester Triple Test

Preimplantation genetic screening as an alternative to prenatal testing for Down syndrome: preferences of women undergoing in vitro fertilization/intracytoplasmic sperm injection treatment

Early Prediction of Hypertensive Disorders of Pregnancy Using Cell-Free Fetal DNA, Cell-Free Total DNA, and Biochemical Markers

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