Triploidy and Routine Combined First Trimester Pregnancy Screening.

Area of Science:

• Prenatal Diagnosis
• Genetics
• Maternal-Fetal Medicine

Background:

• Triploidy is a rare chromosomal abnormality with severe fetal implications.
• First trimester combined screening (FTS) assesses risk for chromosomal abnormalities.
• Early detection of fetal chromosomal aberrations is crucial for reproductive decision-making.

Purpose of the Study:

• To highlight the potential of first trimester combined screening in early detection of triploidy.
• To report a case of triploidy identified via first trimester screening.

Main Methods:

• A 28-year-old woman presented with decreased first trimester biochemical markers, indicating high risk for trisomies.
• Amniocentesis was performed at 15 weeks gestation.
• Karyotyping confirmed a 69,XXX triploid fetus.

Main Results:

• The case demonstrated a pattern potentially indicative of triploidy in first trimester screening.
• Post-mortem examination revealed severe fetal anomalies including hydrocephalus and IUGR.
• Fetal syndactyly, malformed ears, micrognathia, and club foot were noted.

Conclusions:

• First trimester screening shows potential for early identification of triploidy.
• Early diagnosis enables informed reproductive choices and avoids risks of later abortion or obstetric complications.