Elevated maternal serum human chorionic gonadotropin in two cases of fetal ventral wall defects

Lack of correlation between elevated maternal serum hCG during second‐trimester biochemical screening and fetal congenital anomaly

“…Furthermore, a normal genetic sonogram excluded chromosomal anomalies in our study population with elevated hCG, in contrast to the rather strong association of aneuploidy with elevated hCG and sonographic 'soft markers', as well as major malformations. Barnes et al (1992) and Schmidt et al (1993) reported on elevated MShCG levels in association with fetal omphalocoele. The pathophysiologic link between the abdominal wall defect and the production of this trophoblast glycoprotein remained unclear, but occurred in the presence of elevated serum AFP.…”

“…*Correspondence to: Claudio Celentano, 5 Umbria St., 65016 Montesilvano (PE), Italy. E-mail: ccelen@tin.it Multiple authors (Barnes et al, 1992;Schmidt et al, 1993;Fejgin et al,1997) reported an increased incidence of structural fetal anomalies in the presence of elevated midtrimester MShCG concentrations, even in the absence of chromosomal anomalies. Fejgin et al (1997) suggested a targeted fetal sonogram for patients with elevated MShCG who had an otherwise normal triple screen, based on a 9.51 fold increase in fetal malformations unrelated to chromosomal abnormalities in their sample of 298 patients.…”

Fetal Facial Profile in Pallister-Killian Syndrome

“…The midtrimester risk calculation of 1: 232 appears to be explained principally by an elevated hCG value (4.08 MoM); the other two marker results were uninformative ( ␣ -fetoprotein 1.38 MoM and unconjugated estriol 1.05 MoM). An elevated maternal serum hCG level has been reported to be associated either with chromosomal anomalies [8] or with an increased incidence of structural anomalies [7] . However, it is not possible to determine whether the elevated hCG value, and consequently the risk calculation, was due to fetal structural or chromosomal anomalies; otherwise it is a sporadic finding.…”

“…Furthermore, also elevated hCG levels during the 2nd-trimester serum screening have been associated with chromosomal and morphological anomalies [7,8] . One fetus with PKS was detected during 1st-trimester Down syndrome screening, presenting increased nuchal translucency [4] .…”

“…PKS is described based on prenatal screening, presenting increased nuchal translucency [4] . Triple screen represents a useful tool in identifying pregnancy at high risk of both chromosomal anomalies [5-6] and fetal malformations [7] .We report a case of prenatal diagnosis in a fetus undergoing second-level scan due to positive triple screen with ultrasound features of PKS. …”