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Updated: Jul 20, 2026
Murine Fetal Echocardiography
Published on: February 15, 2013
Early fetal anomaly scanning in a population at increased risk of abnormalities
N S den Hollander1, M W Wessels, M F Niermeijer
1Department of Obstetrics, Academic Hospital Rotterdam-Dijkzigt, Rotterdam, The Netherlands. n.s.den_hollander@lumc.nl
Insights
Early fetal anomaly scanning effectively identifies structural anomalies in high-risk pregnancies. While beneficial, it does not replace the standard 18-21-week scan due to varying anomaly presentation times.
Area of Science:
- Medical Science
- Obstetrics
- Genetics
Background:
- Congenital anomalies pose significant risks to fetal health.
- Early detection of fetal anomalies is crucial for timely intervention and management.
- Identifying at-risk populations allows for targeted screening protocols.
Purpose of the Study:
- To evaluate the efficacy of early fetal anomaly scanning (11-14 weeks gestation) in a high-risk cohort.
- To assess the detection rate of structural anomalies during the first trimester.
- To determine the role of early scanning in managing pregnancies with a history of fetal anomalies.
Main Methods:
- Prospective study conducted at a tertiary center.
- Inclusion of 101 consecutive fetuses identified as high-risk for congenital anomalies.
- Gestational age at scanning: 11-14 weeks.
Main Results:
- A significant proportion of referrals (92%) were due to a previously affected infant.
- Early scanning detected structural anomalies in 9% of fetuses.
- In 44% of detected anomalies, there was a recurrence of a previously identified condition, including autosomal recessive syndromes.
Conclusions:
- Early pregnancy scans (11-14 weeks) can diagnose a majority of fetal anomalies.
- This early detection offers significant advantages for women at high risk of fetal abnormalities.
- The standard 18-21-week scan remains essential as anomalies can manifest later in gestation.
Objectives:
To determine the effectiveness of early fetal anomaly scanning in a population at risk of fetal anomalies.
Design:
A prospective study in a tertiary center of 101 consecutive fetuses at risk of congenital anomalies at 11-14 weeks of gestation.
Results:
The principal (93/101 = 92%) reason for referral was having a previously affected infant. Nine (9/101 = 9%) fetuses were shown to have structural anomalies at the 11-14-week scan. In five of nine structurally affected fetuses, the nature of the anomalies was similar to that established in a previously affected pregnancy, four of which had a recurrence of an autosomal recessive syndrome. In two fetuses with a normal 11-14-week scan, anomalies were detected at the 18-21-week (arthrogryposis) or 30-week (cardiomyopathy) scans.
Conclusions:
The majority of fetal anomalies can be diagnosed in the late first/early second trimesters of pregnancy. This will be of particular advantage to those women who are at high risk of having affected offspring. However, as fetal anomalies may present at varying gestational ages, the standard 18-21-week scan cannot be abandoned. The effectiveness of the early pregnancy scan depends on the natural history of anomalies (gestational age at onset) and the variable phenotypic expression of anomalies/syndromes.
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