Fetal anatomy scan with integrated nuchal translucency and combination of PAPP-A and fβhCG for prediction of aneuploidy

Abstract

BACKGROUND: Nuchal translucency (NT) is an important finding of early fetal anatomy scan because of the association with genetic and structural anomalies. Enlarged nuchal translucency can be easily detected even without measurement on fetal anatomy scan as a neck pathology. Because of demanding criteria for measurning NT in established prenatal aneuploidy screening we came with an idea of improvement and simplifi cation with availabe methods. The aim of this study is to compare established screening methods with new model of screening composed of fetal anatomy scan with integrated nuchal translucency and combination of PAPP-A and fβhCG. METHODS: A prospective one center study analyzed a total of 351 pregnancies between January 2017 and December 2020. Sonographic measurement of NT and fetal anatomy scan (FAS) were performend with biochemical testing from blood sample in the fi rst trimester. Combined screening and fetal anatomy scan was performed. Patients with a pathological screening or with structural defects underwent an invasive procedure. In patient with positive screenining who missed the fi rst trimester invasive procedure, amniocentesis was performed. Fetuses were divided into two groups according to positive or negative karyotype and to calculate sensitivity and specifi city of screening methods. From statistical methods regression analysis, signifi cance p of individual predictor, sensitivity and specifi city with graphic drawing of ROC charts were used. Data were analyzed using statistical tools of Microsoft Excel 365 and BESH stat. RESULTS: Four models for aneuploidy screening were tested. 1) Model of "Age at the time of diagnosis" was slightly signifi cant predictor with insignifi cant odds ratio (P = 0.04, OR = 1). 2) Model of" First trimester biochemical screening" (age, free beta human chorionic gonadotropine -fβhCG and pregnancy associated plasmatic protein A -PAPP-A) were signifi cant (P = 0.0001; LR = 21) with sensitivity of 87.5 % and specifi city of 65.7 %. 3) Model of "First trimester combined test" (age of patients at the time of diagnosis, fβhCG, PAPP-A, NT) was signifi cant (P = 7.9 x10 -14 , LR = 67, sensitivity 87 %, specifi city 80 %). 4) Model of "Fetal anatomy scan with biochemistry" (structural abnormality fi nding with combination including age, fβhCG and PAPP-A) was signifi cant (P = 4.9x10 -18 , LR = 87, sensitivity 95 %, specifi city 80 %). CONCLUSION: Fetal anatomy scan combined with age, fβhCG and PAPP-A has the highest sensitivity and specifi city for both, the detection of fetal aneuploidies and structural abnormalities. Our study shows that fetal anatomy scan is the best possible option for fi rst trimester diagnostics (Tab. 4, Fig. 5, Ref. 16).

Congenital cytomegalovirus infection ‒ a problem of past, present and future

“…We can also use the dry blood sample that is a part of neonatal screening in a case of uncertain results of the infection onset. The incorporation of a detailed foetal anatomy scan into fi rst-trimester screening algorithms can be very useful also (29). CMV infection is a problem of past, present and future.…”