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Updated: Dec 13, 2025
FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
Improving prenatal detection of congenital hand defects through collaborative goal-directed antenatal care: a case
Nnabuike Chibuoke Ngene1,2, Lawrence Chauke1
1Department of Obstetrics and Gynaecology, School of Clinical Medicine, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.
Insights
Prenatal ultrasonography can miss isolated congenital hand defects like symbrachydactyly, especially in the third trimester. Early detection and collaborative care are crucial for managing these conditions.
Area of Science:
- Medical imaging
- Obstetrics
- Pediatric surgery
Background:
- Prenatal ultrasonography is key for detecting fetal structural anomalies.
- Proximal limb deformities are easily diagnosed, but distal limb and digit abnormalities can be challenging to detect.
- Late-term or isolated anomalies may be missed during routine antenatal care.
Observation:
- A case of isolated symbrachydactyly (rudimentary fingers) was diagnosed postnatally.
- The condition was not detected during third-trimester ultrasonography.
- The infant demonstrated normal development and functional use of the affected hand by age three.
Findings:
- Congenital hand defects, particularly isolated digital anomalies, may be missed by prenatal ultrasound.
- Effective management requires collaboration among healthcare professionals, including sonologists.
- Timely diagnosis and appropriate counseling are vital for families.
Implications:
- Highlights the limitations of third-trimester ultrasonography for subtle digital anomalies.
- Emphasizes the importance of specialized training for sonologists in detecting congenital hand differences.
- Underscores the need for comprehensive antenatal care and parental support.
Background:
Prenatal ultrasonography for the detection of fetal structural anomaly is an important component of antenatal care. During the assessment, proximal limb deformities are readily diagnosed. Distal limb, especially digit, abnormalities, however, may be difficult to detect, particularly if the ultrasonography is performed in the third trimester, and the deformity is unilateral and isolated.
Case:
A 24-year-old primigravida booked for antenatal care with a general practitioner had threatened miscarriage at 12 weeks of gestation, and at 34 weeks was referred to an obstetrician for further care and delivery. The growth ultrasonographic examination was normal but at 40 weeks of gestation she developed antepartum haemorrhage of unknown origin. She had a caesarean delivery and a female baby with "rudimentary" left fingers ("isolated symbrachydactyly") was delivered. The parents were counselled and they declined further assessment of the baby by a hand surgeon and a clinical geneticist. At 3 years of age, the baby had normal development and "is using her hand even without fingers," according to the mother.
Conclusion:
Collaborative goal-directed antenatal care that involves different categories of healthcare professionals, but particularly a certified sonologist who performs fetal anomaly ultrasonography, is essential for the detection of congenital hand defects. Adequate counselling is essential for the satisfaction of the baby's family.
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