Ultrasound in prenatal diagnosis: polemics around routine ultrasound screening for second trimester fetal malformations

Abstract

Ultrasound for routine fetal malformation screening has been polemical from its early beginning because of the very broad range of diagnosis rates disclosed, i.e. from 13% to 82%, average 27.5%. A review of available studies is proposed to assess objectively the efficacy of ultrasound, considering also economical, ethical and methodological aspects as influential factors for choosing a routine screening policy. The utility of fetal malformation diagnosis before birth is brought forward, including second opinion, karyotyping, poly-disciplinary case discussion prior to management. Method and material of reviewed studies considerably vary and might influence the sensitivity results, as the choice of the population sample and selection of pregnant women, gestation age at screening, distribution of malformation among systems or tracts, exclusion of some fetal malformation and the routine practice of autopsy. Efficiency of screening studies is compared, and among them Radius and Eurofetus studies. Average sensitivity is finally considered as satisfactory in the daily practice when operated by trained personnel. The importance of additional factors for successful screening are emphasized such as education, equipment quality and fetal ultrasound examination at different gestation age for a better understanding of natural history of fetal morphology.

Assessment of ultrasound and Doppler parameters in the third trimester of pregnancy as predictors of adverse perinatal outcome in unselected pregnancies

“…However, 1457 exams were excluded because of the following reasons: 622 < 27 weeks of gestation, 417 ≥ 38 weeks of gestation, 64 lost to follow-up and 354 underwent repeated ultrasound exams. Therefore, we analyzed data from 700 ultrasound scans: 103 pregnant women (14.7%) were considered high-risk because of the following maternal chronic diseases: genetic thrombophilia (2), hypothyroidism (32), preeclampsia (12), chronic hypertension (27), epilepsy (1), type 1 diabetes mellitus (1), type 2 diabetes mellitus (1), gestational diabetes (21), chronic hypertension and gestational diabetes (1), Chagas disease (1), asthma (2), and anemia (2). The remaining 597 (85.3%) pregnant women were considered low-risk patients.…”

“…An ultrasound exam during pregnancy is essential to diagnose fetal malformations in the first and the second trimester [1], and to assess fetal growth disorders [2]. In the same way, Doppler ultrasound is vital for the assessment of intrauterine growth restriction (IUGR) [3], and as a predictor of preeclampsia in the first trimester of pregnancy [4].…”

Ultrasound Contribution in Antenatal Diagnosis of Fetal Malformations: About Two Cases

“…A study conducted between 1990 and 1993 to evaluate the sensitivity of echographic screening of fetal malformations on 200,000 pregnant women showed that 61% of the 3700 malformed fetuses were discovered before birth (minor and major malformations), sensitivity thus reaches 74% of all malformations and 88% and 85% for central and urogenital malformations (2,3,4,5,6,7,8) , but the sensitivity reported does not necessarily reflect its Real value, mostly due to methodological differences (2) . Screening for an abnormality will be followed by a second more detailed ultrasound scan, in more trained hands, to confirm the anomaly which must be more precise because it is on the morphological ultrasound data that one will take a Therapeutic decision.…”

Magzati-újszülöttkori fejlődési rendellenességek praenatalis ultrahangvizsgálatának eredményessége, a nehézségi és a bizonytalansági faktorok vizsgálata

“…A magzati fejlődési rendellenességek születéskori prevalenciája 2-3% körül van [1][2][3]. A magzati fejlődési rendellenességek felismerésében mai napig legnagyobb szerepe az ultrahangszűrésnek, illetve a célzott ultrahangvizsgálatoknak van.…”