Maternal Screening Overview: Understanding the Importance and Benefits

March 09,2023
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Parameters	Dual Marker	EFTS	Quadruple Marker	NIPT
Ideal gestational period	11 weeks to 13 weeks, 6 days	11 weeks to 13 weeks, 6 days	15 weeks to 21 weeks, 6 days	10 weeks to term
Biochemical values	PAPP-A Free beta HCG	PAPP-A Free beta HCG AFP PIGF	PAPP-A Free beta HCG uE3 Inhibin-A	No biochemical testing – sequencing of fetal fraction DNA in the maternal circulation
Bio-physical values required and acceptable range	NT: less than 3 mm CRL: 42 – 83 mm	CRL: 45 – 84 mm NT: less than 3 mm UTPI: 0.4 – 4 MAP for pre-eclampsia	BPD: 31 – 52 mm	NA
Detection rate	91%	90%	75%	>99.9%
False positive rate	5%	1.4%	5%	<1%
Clinical indication	Early detection of down syndrome, edward syndrome, patau syndrome, and other aneuploidies.	Fetal aneuploidies, structural defects, and pre-eclampsia.	Identifies risk for down syndrome, edward syndrome, patau syndrome, and neural tube defect syndrome.	Screening test for fetal aneuploidies like down syndrome, edward syndrome, and patau syndrome.

AFP – Alpha-fetoprotein; BPD – Biparietal diameter; CRL – Crown rump length; HCG – Human chorionic gonadotropin; MAP – Mean-arterial pressure; NT – Nuchal translucency; PAPP-A – Pregnancy associated plasma protein; PIGF – Placental growth factor; uE3 – Unconjugated estradiol; UTPI – Uterine artery pulsatility index; NIPT – Non-invasive prenatal testing

References:

Cuckle HS, van Lith JM. Appropriate biochemical parameters in first-trimester screening for Down syndrome. Prenat Diagn. 1999 Jun;19(6):505–12.
Perni SC, Predanic M, Kalish RB, Chervenak FA, Chasen ST. Clinical use of first-trimester aneuploidy screening in a United States population can replicate data from clinical trials. Am J Obstet Gynecol. 2006 Jan;194(1):127–30.
Wald NJ, Rodeck C, Hackshaw AK, Walters J, Chitty L, Mackinson AM. First and second trimester antenatal screening for Down’s syndrome: the results of the Serum, Urine and Ultrasound Screening Study (SURUSS). J Med Screen. 2003 Jun;10(2):56–7.
Nicolaides KH. Screening for fetal aneuploidies at 11 to 13 weeks. Prenat Diagn. 2011 Jan;31(1):7–15.
Dai R, Yu Y, Zhang H, Li L, Jiang Y, Liu R et al. Analysis of 17,428 pregnant women undergoing non-invasive prenatal testing for fetal chromosome in Northeast China. Medicine. 2021;100(6):e24740.