Maternal Screening Overview: Understanding the Importance and Benefits
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.
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