First‐trimester nuchal translucency and maternal serum free β‐hCG and PAPP‐A can detect triploidy and determine the parental origin

Abstract

On the basis of these results, it may be possible to detect triploid pregnancies in the first trimester and determine their origin using combined first-trimester screening.

Use of the combined first‐trimester screen result and low PAPP‐A to predict risk of adverse fetal outcomes

“…There has been a recent interest in the ability of the FTS to predict adverse outcomes other than Down syndrome Spencer et al, 2000;Spencer and Nicolaides, 2002;Liu et al, 2004;Yaron et al, 2004;O'Leary et al, 2006). Most literature has focused on the individual components of the screen; increased fetal NT (Adekunle et al, 1999;Souka et al, 2001;Cheng et al, 2004;Dugoff et al, 2004;Kabili et al, 2004;Krantz et al, 2004), low maternal PAPP-A (Ong et al, 2000;Ochshorn et al, 2001;Yaron et al, 2002a;Kwik and Morris, 2003;Dugoff et al, 2004;Kabili et al, 2004;Krantz et al, 2004) and abnormal free *Correspondence to: Sandie L. Barrett, Western Diagnostic Pathology, Symbion Health, Western Australia, Australia.…”

A case of triploidy detected by maternal serum screening in the first trimester of pregnancy

“…A number of characteristic abnormalities are common in both types and there is no difference between the two phenotypes: the anomalies of the brain, heart and urinary tract, abnormal genitals and syndactyly of the third or fourth fingers and of the toes [11][12][13][19][20][21][22].…”

“…First trimester screening usually shows increased NT and levels of free β-hCG in the maternal serum and mildly decreased PAPP-A [16]; the diandric triploid fetuses are often found to have an increased risk for trisomy 21.…”

“…The maternal serum free β-hCG was 3.69 UI/L MoM 0.10 and PAPP-A 0.08 UI/L Mom 0.02. The risk of trisomy 21-18 was calculated using a dedicated software (Ssdwlab 5) and there was a low risk: 1:4830 for trisomy 18 and 1:30414 for trisomy 21. There was only a marked decrease in maternal serum free β-hCG and PAPP-A.…”

Five cases of triploidy identified through antenatal screening programme

“…Another explanation might be that triploid with high level of hCG is more likely to be diandric. 5 Diandric triploid in the first trimester period tends to have large NT measurements, which can be detected by early ultrasound screening. 5 This is also the case in our two early triploid pregnancies, both of which had large NT measurements.…”