Prenatal sonographic features of triploidy at 12-16 weeks

Area of Science:

• Medical Imaging
• Prenatal Diagnosis
• Genetics

Background:

• Triploidy is a chromosomal abnormality with significant implications for pregnancy.
• Early detection of fetal abnormalities is crucial for management and counseling.
• Sonographic evaluation plays a key role in identifying potential genetic disorders.

Purpose of the Study:

• To characterize the sonographic appearance of triploidy in early gestation.
• To establish a recognizable pattern of ultrasound findings associated with triploidy between 12-16 weeks.

Main Methods:

• Retrospective analysis of 25 fetal triploidy cases diagnosed between 12-16 weeks gestation.
• Detailed review of targeted transvaginal ultrasound findings.
• Correlation of sonographic features with fetal karyotype indications.

Main Results:

• Triploidy incidence estimated at 1 in 5000 pregnancies.
• Consistent sonographic pattern observed in 21/25 cases: asymmetric growth restriction, oligohydramnios, abnormal posterior fossa, absent gallbladder.
• Additional findings included cardiac and renal abnormalities, clenched hands, and hypoplastic lungs.

Conclusions:

• Fetal triploidy can be identified as early as 12-16 weeks gestation.
• Distinct sonographic patterns, including molar changes or a cluster of specific anomalies, suggest triploidy.
• These findings warrant further diagnostic testing for early pregnancy confirmation.