Maternal serum screening for Down syndrome in the United States: A 1995 survey

doi:10.1016/S0002-9378(97)70400-9

American Journal of Obstetrics and Gynecology

Volume 176, Issue 5, May 1997, Pages 1046-1051

https://doi.org/10.1016/S0002-9378(97)70400-9 Get rights and content

Abstract

OBJECTIVE: Our goal was to determine the status of prenatal Down syndrome screening in the United States in 1995.

STUDY DESIGN: Information was sought via questionnaire from laboratories participating in external proficiency testing.

RESULTS: Services were provided to 2,498,000 women annually by 265 screening laboratories. All but 10 laboratories offered both open neural tube defect and Down syndrome screening. Twenty-one percent of Down syndrome interpretations were based on α-fetoprotein measurements alone; 79% also included other serum analytes. Sixty-six laboratories (26%) offered interpretations at 14 weeks' gestation or earlier.

CONCLUSIONS: Some laboratories extend serum screening too early in gestation for optimal neural tube defect interpretation. When 1995 was compared with 1992, more women were being screened, a higher proportion were receiving a Down syndrome interpretation, and more interpretations were based on multiple analytes. Laboratories should be encouraged to use some combination of multiple markers when screening for Down syndrome. (Am J Obstet Gynecol 1997;176:1046-51.)

Section snippets

Methods

In November 1995 a questionnaire was included as an insert in a routine distribution of the Maternal Screening Proficiency Testing Survey (FP-C), jointly sponsored by the Foundation for Blood Research and the College of American Pathologists. The first part of the questionnaire asked survey participants whether they provided prenatal screening services for open neural tube defects or Down syndrome and, if so, the average number of samples tested per week. Additional questions followed for those

Results

Seventeen of the 316 participants reported in the FP-C survey were located outside the United States, and 36 did not provide screening services (because they were kit manufacturers, they measured amniotic fluid AFP only, or they currently referred serum samples to other laboratories for prenatal testing). These 53 were removed from further analysis. All but two of the remaining 263 laboratories (99%) responded. Four additional responding laboratories participated only in the New York State

Comment

Laboratories performing maternal serum screening are required by CLIA (Clinical Laboratories Improvement Act) regulation to participate in proficiency testing. This survey queried members of the only two such programs located in the United States. It is therefore likely that no more than a few laboratories are not represented in this survey. The 265 responding laboratories tested pregnancies representing 63% of the annual births in the United States, an increase over the 1992 survey, in which

Acknowledgements

We thank Gerald J. Mizejewski, PhD, Director of the Oncofetal Antigen Laboratory in the state of New York, for distributing the survey to members of the New York State Oncofetal Antigen Proficiency Testing Program.

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Citation Excerpt :
The phenotype of DS includes mental retardation and cognitive deficits, heart defects, hypotonia, motor dysfunction, immune system deficiencies, an increased risk of leukemia, and development of the pathology of Alzheimer's disease [47]. Prenatal screening for DS based on the analysis of biochemical markers in maternal serum of pregnancy has become an established part of obstetric practice in many countries [48–50]. β-HCG and AFP are two main serum biomarkers in antenatal maternal serum screening for DS [51–55].
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The paper expounds the community maternity service system against birth defects, from the viewpoint of individualized service in family planning. We have utilized modern information technology to develop health management information (HMI) network with individualized maternity, and to establish the community service system for intervention of birth defects. The service system applied the concept of modern health management information to implementing informational management for screening, treatment, following up, outcome monitoring, so as to provide a base for promotion of health, diagnosis, treatment as well as scientific research, with the prenatal screening of Down's syndrome as a model. The introduction to informational network during the processes of service has been carried out with regards to its composition, function and application, while introducing the effects of computerized case record individualized in prevention, management and research of Down's syndrome.
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^☆: From the Foundation for Blood Research^a and the Department of Pathology, Bellevue Maternity Hospital.^b

^☆☆: Supported in part by the New England Regional Genetics Group, Project MCJ-251003-07 from the Maternal and Child Health Bureau (Title V, Social Security Act), Health Resources and Services Administration, Department of Health and Human Services.

^★: Reprint requests: Glenn E. Palomaki, BS, Foundation for Blood Research, PO Box 190, Scarborough, ME 04070-0190.

^★★: 0002-9378/97 $5.00 + 0 6/1/80580

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Abstract

Section snippets

Methods

Results

Comment

Acknowledgements

Am J Obstet Gynecol

Maternal serum screening for Down's syndrome in early pregnancy

BMJ

Maternal serum screening for Down's syndrome: the effect of routine ultrasound scan determination of gestational age and adjustment for maternal weight

Br J Obstet Gynaecol

Use of unconjugated estriol in screening for Down's syndrome

Prenat Diagn