Prenatal diagnosis of major malformations: quality control of routine ultrasound examinations based on a five‐year study of 20 248 newborn fetuses and infants

Abstract

Antenatal ultrasound screening for birth defects is increasingly becoming a routine procedure of prenatal care. Prenatal detection of malformations and subsequent adjustment of obstetric management are essential for secondary prevention. It is unknown whether ultrasound screening is effective in all pregnant women, or should only be performed in high risk populations. From 1990-1994, 20,248 livebirths, stillbirths and abortions underwent physical and sonographic examinations and anamnestic data were collected. To identify the high risk group, case control analyses of births with one of the 23 selected major malformations (controls) were performed with respect to anamnestic risk factors. All women had at least three routine ultrasound scans. The selected malformations were diagnosed in 298 children; 95 (30.3 per cent) were diagnosed antenatally. Detection rates were: CNS (68.6 per cent), gastro-intestinal tract (42.3 per cent), urinary system (24.1) per cent), heart (5.9 per cent). Complications during pregnancy were calculated as indicators of congenital anomalies: premature labour (< 28 week) OR 4.7 (3.8-5.9), placental insufficiency OR 1.9 (1.1-2.7) and vaginal bleeding OR 1.5 (1.2-1.8), etc. Antenatal routine ultrasound screening is not effective risk populations. Anamnestic risk factors risk factors during pregnancy may be essential indicators for identifying high risk populations. We propose screening of the described high risk pregnancies (about 22 per cent of all pregnancies) to be performed by specially trained and highly experienced ultrasonographers to increase sensitivity rates and benefit cost effectiveness.

Impact of a regional training program in fetal echocardiography for sonographers on the antenatal detection of major congenital heart disease

“…Over 90% of major heart defects could be diagnosed if outflow-tract views were included. CHD is poorly diagnosed compared with other anomalies 11,12 . Around 25% of babies with critical CHD are discharged without a diagnosis and some die before their CHD is detected 13,14 .…”

Prenatal diagnosis of inverted duplicated 8p

“…This includes minor facial anomalies and abnormalities of the central nervous system leading to severe mental retardation. This case underscores the limitation of ultrasound screening for fetal anomalies which in a recent report of a large cohort of 20,248 over 5 years (1990–1994) detected major fetal anomalies in 30.3% in an unselected population undergoing routine ultrasound screening, 50% of the anomalies were detected at, or after 24 weeks of gestation [Queisser‐Luft et al, 1998].…”

Die Ultsasonographie in der Schwangerschaftsbetreuung

“…SSW ergeben hat, konnte gezeigt werden, daß man bei einem gezielten Screening in einem spezialisierten Zentrum mit einer Entdeckungsrate von bis zu 95% rechnen kann [2,5,8,10,13]. SSW ergeben hat, konnte gezeigt werden, daß man bei einem gezielten Screening in einem spezialisierten Zentrum mit einer Entdeckungsrate von bis zu 95% rechnen kann [2,5,8,10,13].…”