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The ultrasound markers of chromosomal disease: a retrospective study
1Department of Radiology, Queen's Medical Centre, University Hospital, Nottingham, UK.
Insights
Chromosomal abnormalities in pregnancy can cause various fetal anomalies. Early detection through detailed fetal assessment, focusing on cardiac and digital features, is crucial for accurate diagnosis and karyotype analysis.
Area of Science:
- Prenatal diagnosis
- Medical genetics
- Fetal medicine
Background:
- Chromosomal abnormalities significantly impact pregnancy outcomes.
- Identifying specific fetal anomalies aids in diagnosing genetic disorders.
Purpose of the Study:
- To correlate specific fetal anomalies detected via antenatal scans with chromosomal abnormalities.
- To evaluate the effectiveness of antenatal scans in suspecting chromosomal disease.
- To provide guidance on targeted fetal assessments for suspected chromosomal conditions.
Main Methods:
- Retrospective analysis of 37 pregnancies with confirmed chromosomal abnormalities over three years.
- Review of antenatal scan findings for major anomalies.
- Correlation of detected anomalies with specific chromosomal diagnoses (Trisomy 13, 18, Down syndrome, Triploidy, Turner syndrome).
Main Results:
- Specific anomalies were associated with Trisomy 13 (holoprosencephaly, clefting), Trisomy 18 (limb, facial, cardiac defects), Down syndrome (cardiac, duodenal atresia), Triploidy (hydropic placenta), and Turner syndrome (cystic hygroma).
- Antenatal scans detected major anomalies in 18 fetuses, but chromosomal disease was suspected in only 15.
- A high false-negative rate for cardiac anomalies was observed in both routine and detailed scans.
Conclusions:
- The diverse range of anomalies in chromosomal disease necessitates comprehensive fetal assessment.
- Particular attention should be paid to the fetal heart, face, hands, and feet during scans.
- Specific anomaly patterns can guide the recommendation for karyotype analysis.
Abstract:
Over a 3 year period 37 pregnancies were complicated by a chromosomal abnormality. In the two cases of trisomy 13, holoprosencephaly, facial clefting, polydactyly and growth retardation were seen. In the seven cases of trisomy 18, abnormalities of the extremities, face and heart were common. Growth retardation and diaphragmatic hernia were also demonstrated. In the 21 cases of Down's syndrome the main abnormalities were cardiac, duodenal atresia and subtle digital anomalies. The two fetuses with triploidy showed a large hydropic placenta and holoprosencephaly respectively, and all five cases of Turner's syndrome demonstrated a cystic hygroma two of which were associated with hydrops. From the antenatal scans major anomalies were detected in 18 fetuses, however, chromosomal disease was suspected in only 15 cases. This was in part owing to a high false negative rate for cardiac anomalies (14 cases) in both routine and detailed scans. Owing to the diversity of anomalies present in chromosomal disease full assessment of the fetus is recommended with particular attention to the fetal heart, face, hands and feet. Specific anomalies are suggested for karyotype.