New developments in prenatal screening for Down syndrome.

Jeffrey P Baliff; Robert A Mooney

doi:10.1309/b7dbbljw0w8p9g06

Home/Archive/PubMed

PubMed · 15298140

New developments in prenatal screening for Down syndrome.

Jeffrey P Baliff·Robert A Mooney

View original source ↗Export metadata ↓

Abstract

Since the introduction of the triple screen, the emergence of additional analytes found to be associated with trisomy 21 pregnancies has challenged the clinical pathology and obstetric communities to determine which combination provides the best performance characteristics as a screening test. The cost, practicality, and psychosocial and ethical dimensions of different screening regimens further complicate the issue. This review attempts to give an overview of the various markers, current methods of screening, and most promising recent developments in antenatal screening for Down syndrome, with an emphasis on performance in prospective studies that have emerged during the last few years, rather than on estimates from statistical modeling.

Explore related subjects

Chorionic Gonadotropin Cost-Benefit Analysis Down Syndrome Estriol Female Humans Pregnancy Pregnancy Trimester, First Pregnancy-Associated Plasma Protein-A Prenatal Diagnosis alpha-Fetoproteins Journal Article Review

Keep this discovery

Explore connections, maps & timelines

BibTeX RIS

Jeffrey P Baliff, Robert A Mooney. 2003. New developments in prenatal screening for Down syndrome.. https://doi.org/10.1309/b7dbbljw0w8p9g06

Cite the original work for its findings. Save a collection to share your selection of sources.

KEEP EXPLORING

Related citations

PubMed2007

Chorionic gonadotropin: a narrative of its identification and origin and the role of Georgeanna Seegar Jones.

The following article on the history of human chorionic gonadotropin is interesting on several levels. I hope that you will enjoy the first-hand description of the events surrounding the discovery of site of origin of this important pregnancy-related hormone as told by Dr. Howard Jones Jr., husband of the late Georgeanna Seegar Jones. They were both editors of the SURVEY for more than 25 years. In today's world of microarray and PCR technology it is fun to hear about the progress of science using tissue culture and mouse assays. But this story is also about the progress we have made on the human level. At a time when well over 50% of the residents in Obstetrics and Gynecology are women, it is astounding to think that in 1938 Mom's name would have been listed as "G. Emory Seegar" on this important paper because it was felt that the paper would not be accepted for publication if one of the authors was a woman!

Chorionic Gonadotropin↗

PubMed2006

Establishing a human chorionic gonadotropin cutoff to guide methotrexate treatment of ectopic pregnancy: a systematic review.

OBJECTIVE: Successful medical management of an ectopic pregnancy is inversely associated with initial hCG level. The purpose of this publication is to assess whether there is a level of hCG above which failure rate substantially increases. DESIGN: A systematic review and summary analysis was performed, including studies reporting methotrexate treatment outcomes as stratified by various hCG ranges. SETTING: Academic medical center. PATIENT(S): Review of published information regarding patients treated with methotrexate. INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): Success and failure rate of medical management. RESULT(S): Five observational studies, including 503 women, were found that reported successes in using single-dose methotrexate stratified by initial hCG concentration. Failure rates increase with increasing hCG levels. A substantial and statistically significant increase in failure rates is seen when comparing patients who have initial hCG levels of >5,000 mIU/mL with those who have initial levels of <5,000 mIU/mL (odds ratio: 5.45; 95% confidence interval: 3.04, 9.78). The failure rate for women who had an initial concentration between 5,000 and 9,999 mIU/mL was significantly higher than that for those who had initial levels between 2,000 and 4,999 mIU/mL (odds ratio: 3.76; 95% confidence interval: 1.16, 12.33). CONCLUSION(S): Results support a substantial increase in failure of medical management with single-dose methotrexate when the initial hCG is above 5,000 mIU/mL. Methotrexate should be used with caution in patients with ectopic pregnancy who present with hCG levels above this level.

Chorionic Gonadotropin↗

PubMed2006

Hyperglycosylated hCG: a variant with separate biological functions to regular hCG.

Hyperglycosylated hCG (hCG-H) is an over-glycosylated variant of hCG. While regular hCG is produced by differentiated syncytotrophoblast cells, hCG-H is independently secreted by stem cytotrophoblast cells. hCG-H has an independent function to regular hCG. It is the direct promoter of trophoblast invasion and malignancy. Invasion as in implantation of pregnancy and malignancy as in choriocarcinoma. Neither will occur in the absence of hCG-H. hCG-H measurements have multiple functions. Primarily or exclusively hCG-H is produced at the time of implantation of pregnancy and in the 2 weeks that follows. As such, a good pregnancy test should measure regular hCG and hCG-H equally. This is not commonly the case. Most tests poorly detect hCG-H. New pregnancy tests are needed, including those that measure only hCG-H. Considering that hCG-H is critical for implantation, hCG-H is also invaluable for determining pregnancy outcome and detecting failures. It makes a considerable more accurate test for detecting pregnancy failures and ectopic pregnancies than regular hCG. Down syndrome pregnancies are marked by poor trophoblast differentiation. As such, they are very well marked by using a combination of hCG-H measurements and other screening tests. hCG-H is also an absolute tumor marker for malignant or invasive gestational trophoblastic disease, it can discriminate active and inactive (quiescent) disease, and the need for chemotherapy.

Chorionic Gonadotropin↗