DOI: http://dx.doi.org/10.18203/2320-6012.ijrms20164216

Is prenatal screening for Down syndrome needed in young pregnant women?

Rekha S. Dhamnaskar, Yogesh R. Pawade, Priyanka Sabnis, Sadhana D. Ghaisas

Abstract


Background: Down syndrome originally known as Mongoloid’s idiocy is the most common autosomal disorder. Down syndrome (DS) can be detected by prenatal diagnosis which includes the triple marker screening test and chromosomal analysis.

Methods: The study population comprised of 100 pregnant females amongst the age group of 20-45 (32.10±4.86) years. Triple Marker Test was done followed by amniocentesis or CVS with karyotyping or FISH.

Results: Risk of <1:250 was considered high risk whereas ≥1:250 was considered as low risk. 32/45 (71%) were false-positive for Trisomy 21 detected as high risk by TMT. But there was good sensitivity and specificity for Trisomy 18.

Conclusions: It can be concluded that the triple marker test is indeed only a screening test for the DS and that it has to be confirmed with the help of chromosomal analysis. The higher maternal age is an important parameter in DS but nowadays, even ones with a lower maternal age can also have a child with DS. So, in general, now all women are recommended to go for biochemical screening during their pregnancy.


Keywords


Amniocentesis, Reproductive, Triple

Full Text:

PDF

References


Biggio JR, Morris TC, Owen J, Stringer JSA. An outcomes analysis of five prenatal screening strategies for trisomy 21 in women younger than 35 years. Am J Obst Gyn 2004 Mar;190(3):721-9.

Driscoll DA, Gross SJ. Screening for fetal aneuploidy and neural tube defects. Genetics in Medicine 2009 Nov;11(11):818-21.

Dugoff L, Hobbins JC, Malone FD, Porter TF, Luthy D, Comstock CH, et al. First trimester maternal serum PAPPA and free beta subunit human chorionic gonadotropin concentrations and nuchal translucency are associated with obstetric complications: a population based screening study (The FASTER Trial). Am J Obst Gyn 2004 Oct;191(4):1446-51.

Malone FD, Canick JA, Ball RH, Nyberg DA, Comstock CH, Bukowski R, et al. First-Trimester or Second-Trimester Screening, or Both, for Down’s Syndrome. N Engl J Med 2005;353:2001-11.

Anderson CL, Brown CEL. Fetal Chromosomal Abnormalities: Antenatal Screening and Diagnosis. American Family Physician 2009 Jan;79(2):117-23.

Smith GC, Shah I, Crossley JA, Aitken DA, Pell JP, Nelson SM, et al. Pregnancy associated plasma protein A and alphafetoprotein and prediction of and alphafetoprotein and prediction of adverse perinatal outcome. Obstet Gynecol. 2006 Jan;107(1):161-6.

Driscoll DA, Morgan MA, Schulkin J. Screening for Down syndrome: changing practice of obstetricians. Am J Obst Gyn 2009 Apr;200(4):459.e1-459.e9.

Spencer K, Souter V, Tul N, Snijders R, Nicolaides KH. A screening program for trisomy 21 at 10–14 weeks using fetal nuchal translucency, maternal serum free β-human chorionic gonadotropin and pregnancy-associated plasma protein-A. Ultrasound Obstet Gynecol 1999;13:231–237.

Kellner LH, Weiss RR, Weiner Z, Neuer M, Martin GM, Schulman H, et al. The advantages of using triple marker screening for chromosomal abnormalities. Am J Obst Gyn 1995 Mar;172(3):831-836.