Prenatal Screening

References First Trimester freeBeta/PAPP-A

DOWN SYNDROME SCREENING

FreeBeta-hCG as First Trimester Marker for Fetal Trisomy. LANCET. 1992; 339:1480. Spencer K, Macri JN, Aitken D, Conner JM.

First Trimester FreeBeta (hCG) Screening for Down Syndrome. PRENAT. DIAGN. 1993; 13:557-62. Macri JN, Spencer K, Aitken D, et. al.

First Trimester Biochemical Screening for Trisomy 21: The Role of FreeBeta hCG, Alpha-Fetoprotein and Pregnancy Associated Plasma Protein A. ANN. CLIN. BIOCHEM. 1994; 31: 447-54. Spencer K, Aitken DA, Crossley JA, et. al.

A First Trimester Maternal Serum Biochemical Marker for Down Syndrome Screening: FreeBeta (hCG). AM J HUM GENET., 1994; 55:1647. Kasturi RV, Pearlman E, Anderson RW, Buchanan PD, Larsen JW, Macri JN.

First Trimester Down Syndrome Screening: FreeBeta (hCG) and PAPP-A. AM J OBSTET GYNECOL, 1995; 172:19. Krantz D, Larsen J, Buchanan, P, Macri J.

First Trimester Down Syndrome Screening: FreeBeta-Human Chorionic Gonadotrophin and Pregnancy Associated Plasma Protein A. AM J OBSTET GYNECOL. 1996; 174:612-616. Krantz DA, Larsen JW, Buchanan PD, Macri JN.

TRISOMY 18 AND 13

First Trimester Serologic Screening: Additional Detection of Trisomies 18 and 13. AM J OBSTET GYNECOL. 1996;174:450. Krantz D, Brambati L, Tului T, Hallahan T, Buchanan P, Larsen J, Macri J.
SCREEN SPOT PLUS - DRIED WHOLE BLOOD

First Trimester FreeBeta (hCG) in Maternal Serum and Maternal Dried Whole Blood Paper Spots. AM J HUM GENET. 1995; 57(4):1649. Macri JN, Berry E, Aitken D, Spencer K, Larson JW, Buchanan PD, Li K, Krantz DA, Hallahan TW.

First Trimester Down Syndrome Screening: FreeBeta - Human Chorionic Gonadotrophin and Pregnancy Associated Plasma Protein A. AM J OBSTET GYNECOL. 1996; 174:612-616. Krantz DA, Larsen JW, Buchanan PD, Macri JN.

NUCHAL TRANSLUCENCY

Fetal Nuchal Translucency: Ultrasound Screening for Fetal Trisomy in the First Trimester of Pregnancy. BR. J. OBSTET. GYNAECOL. 1994; 101:782-6. Nicolaides KH, Brizot ML, Snijders RJM.

First Trimester Fetal Nuchal Translucency. CURR. OPIN. OBSTET. GYNECOL. 1995; 7(2): 95-102. Pandya PP, Santiago C, Snijders RJ, Nicolaides KH.

References Second Trimester MSAFP/freeBeta

DOWN SYNDROME SCREENING

Free Beta HCG in Down Syndrome Screening. AM J OBSTET GYNECOL. 1992; 166:350. Larsen J, Garver K, Frank S, Macri J.

Enhanced Maternal Serum Down Syndrome Screening: The Use of Free Beta. AM J HUM GENET. 1991; 49:A310. Macri JN, Kasturi RV, Krantz DA, Cook EJ.

Maternal Serum Down Syndrome Screening: Free Beta-Protein is a More Effective Marker than Human Chorionic Gonadotropin. AM J OBSTET GYNECOL. 1990; 163:1248-53. Macri JN, Kasturi RV, Krantz DA, Cook EJ, et al.

Dual Analyte Immunoassay - A New Approach to Neural Tube Defect and Down Syndrome Screening. ANN. CLIN. BIOCHEM.,1992; 29:390-6. Macri JN, Spencer K, Anderson RW.

Free Beta Chorionic Gonadotropin: A Cross-Reactivity Study of Two Immunometric Assays Used in Prenatal Maternal Serum Screening for Down Syndrome. ANN. CLIN. BIOCHEM., 1992; 9:506-18. Macri JN, Spencer K, Anderson RW, Cook EJ.

An Evaluation of a Free Beta hCG Assay and Its Potential Value in Down's Syndrome Screening. CLIN CHEM. 1991; 37:809-814. Spencer K.

Free Beta Human Choriogonadotropin in Down Syndrome Screening: A Multicentre Study of Its Role Compared with Other Biochemical Markers. ANN. CLIN. BIOCHEM., 1992; 29:506-18. Spencer K, Coombes J, Selby C, Mallard AS, Ward AF.

Second Trimester Screening for Down Syndrome With AFP and FreeBeta: Results of Studies with Advanced Maternal Age Patients. AM J OBSTET GYNECOL. 1995; 172:391. Kasturi R, Buchanan PD, Larsen J, Krantz D, Macri J.

Maternal Serum FreeBeta hCG Screening: Results of Studies Including 480 Cases of Down Syndrome. PRENAT. DIAGN. 1994; 14:97-103. Macri JN, Spencer K, Garver K, Buchanan PD, Say B, Carpenter NJ, Muller F, Boue A.

Second Trimester Screening for Down Syndrome with AFP and FreeBeta: Results of Studies with Advanced Maternal Age Patients. AM J OBSTET GYNECOL. 1995; 172:391. Kasturi R, Buchanan P, Larsen J, Krantz D, Macri J.

Detection of Molar Pregnancies Within a Down Syndrome Screening Protocol Using FreeBeta hCG and AFP. AM J HUM GENET. 1996; 59:1846. Buchanan P, Krantz D, Hallahan T, Larsen J,
Macri J.

UNCONJUGATED ESTRIOL (UE)>

Measurement of Unconjugated Estriol by ELISA Fails To Show An Association With Down Syndrome letter. AM J OBSTET GYNECOL. 1990; 162:1634-35. Macri JN, Kasturi RV, Krantz DA,
Cook EJ, Larsen JW.

Maternal Serum Down Syndrome Screening: Unconjugated Estriol is Not Useful. AM J OBSTET GYNECOL. 1990; 162:672-73. Macri JN, Kasturi RV, Krantz DA, Cook EF, Sunderji SG, Larsen JW.

MOMs (multiples of the median) and DADs (discriminant aneuploidy detection): Improved Specificity and Cost Effectiveness of Biochemical Screening for Aneuploidy with DADs. AM J OBSTETIC GYNECOL. 1995; 172:1138-49. Evans MI, Chik L, O'Brien JE, Chin B. et. al.

Second-Trimester Maternal Serum Screening for Down's Syndrome: Comparison of Free Beta - hCG and Alpha-Fetoprotein with Total hCG, Alpha-Fetoprotein and Unconjugated Estriol. AM J OBSTET GYNECOL. 1996; 174:463. Extermann P, Bischof P, Beguin F.

Unconjugated Estriol as Maternal Serum Marker for the Detection of Down Syndrome Pregnancies. FETAL DIAGN THER. 1996; 11:99-105. David M, Merksamer R, Israel N, Dar H.

Is the Measurement of Unconjugated Oestriol of Value in Screening for Down's Syndrome. In "SCREENING FOR DOWN SYNDROME". ed. Cambridge: Cambridge Univ Press. 1994; 141. Grudzinskas, JG, Chard T, Chapman M, Cuckle H.

Toward the Optimal Protocol for Down Syndrome Screening. AM J OBSTET GYNECOL. 1996; 174:1668-1669. Macri JN, Spencer K.

ONTD SCREENING

Maternal Serum Alpha-Fetoprotein Screening: Effects of Weight Adjustment. AM J OBSTET GYNECOL. 1987; 157:783-84. Macri JN, Kasturi RV, Krantz DA, Koch KE, Hu MG.

MSAFP Screening - Screening for Genetic Anomalies - reply. AM J OBSTET GYNECOL. 1987; 157:212. Macri JN.

Maternal Serum Alpha-Fetoprotein Screening: Maternal Weight and Detection Efficiency. AM J OBSTET GYNECOL. 1986; 155:758-60. Macri JN, Kasturi RV, Krantz DA, Koch KE.

Critical Issues in Prenatal Maternal Serum Alpha-Fetoprotein Screening for Genetic Anomalies. AM J OBSTET GYNECOL. 1986; 155:240-46. Macri JN.

PATIENT-SPECIFIC RISK REPORTING

Maternal Serum Alpha-Fetoprotein (MSAFP) Patient-Specific Risk Reporting: Its Use and Misuse. AM J HUM GENET. 1990; 46:587-90. Macri JN, Kasturi RV, Krantz DA, Cook EJ, Larsen JW.

Decision Analysis. NEW ENG J MED. 1987; 317:387-88. Macri JN, Hu MG, Krantz DA.

Critical Issues in Prenatal Maternal Serum Alpha-Fetoprotein Screening for Genetic Anomalies. AM J OBSTET GYNECOL. 1986; 155:240-46. Macri JN.

Clinical Interpretation of Maternal Serum Alpha-Fetoprotein Concentrations. AM J OBSTET GYNECOL.1984; 148:241. Centers for Disease Control (CDC).

Prenatal Detection of Neural Tube Defects. The American College of Obstetricians and Gynecologists. Washington, D.C., Number 99, December, 1986. ACOG Technical Bulletin.

Alpha-Fetoprotein Screening. American Academy of Pediatrics, Committee on Genetics. Pediatrics, 1987; 80:444-45.

Policy Statement for Maternal Serum Alpha-fetoprotein Screening Programs and Quality Control for Laboratories Performing Maternal Serum and Amniotic Fluid Alpha-fetoprotein Assays. AM J HUM GENETICS. 1987; 40, American Society of Human Genetics.

SCREEN SPOT PLUS - DRIED WHOLE BLOOD

The Effect of Ethnicity, Insulin Dependence and Maternal Weight on Dried Whole Blood FreeBeta (hCG) Levels. AM J HUM GENETICS. 1994; 55:1650. Krantz DA, Buchanan PD, Kasturi RV, Cook EJ, Macri JN.

Prenatal Maternal Dried Blood Screening with Alpha-fetoprotein and FreeBeta-Human Chorionic Gonadotrophin for Open Neural Tube Defect and Down Syndrome. AM J OBSTET GYNECOL. 1996; 174: 566-572. Macri JN, Anderson RW, Krantz DA, Larsen JW, Buchanan PD.

Prenatal Screening Using Dried Blood Spots: An Improved Method of Specimen Transport. AM J HUM GENET. 1993; 53:1496. Macri JN, Buchanan PD, Anderson RW, Krantz DA, Kasturi RV, Cook EJ, et.al.

Correlation of Maternal Blood and Maternal Urinary FreeBeta hCG Using Dried Specimen Technology. AM J HUM GENET. 1996; 59:1876. Hallahan T, Anderson R, Brambati B, Tului L, Krantz D, Larsen J, Buchanan P, Orlandi F, Macri J.

TURNER SYNDROME

FreeBeta hCG Screening of Hydropic and Nonhydropic Turner Syndrome Pregnancies. PRENAT. DIAGN, 1996; 16:853-856. Laundon CH, Spencer K, Macri JN, Anderson MS, Buchanan PD.

TRISOMY 18

Identification of Trisomy 18, Triploidy, and Other Chromosome Abnormalities: The Use of an Atypicality Index Incorporating Maternal Serum FreeBeta and AFP. AM J HUM GENETICS. 1994;55:1625. Buchanan PD, Krantz DA, Kasturi RV, Cook EJ, Macri JN.

Prenatal Screening for Trisomy 18 with FreeBeta Human Chorionic Gonadotrophin as a Marker. BR. MED. J. 1993; 307:1455-58. Spencer K, Mallard AS, Coombes EJ, Macri JN.