Association between different morphological types and abnormal karyotypes in early pregnancy loss

Area of Science:

• Reproductive Medicine and Genetics
• Medical Imaging and Diagnostics

Background:

• Early pregnancy loss (EPL) is a common complication, often associated with chromosomal abnormalities.
• Transvaginal ultrasound (TVS) is a key imaging modality for assessing early pregnancy development.

Purpose of the Study:

• To identify specific transvaginal ultrasound (TVS) findings indicative of aneuploidy in early pregnancy loss (EPL).
• To correlate morphological abnormalities observed via TVS with specific chromosomal aberrations in EPL.

Main Methods:

• A prospective clinical trial involving 156 singleton pregnancies with EPL.
• Evaluation of pregnancies using TVS before and at the time of EPL diagnosis.
• Fetal karyotyping of products of conception using microsatellite analysis to determine chromosomal status.

Main Results:

• Six morphological types of EPL were identified: one normal and five abnormal (small gestational sac, small embryo/fetus, early symmetrical arrested growth, enlarged yolk sac, empty sac).
• High rates of chromosomal abnormalities were found in abnormal morphological groups: 100% in early symmetrical arrested growth, 94.1% in small embryo/fetus, 93.3% in enlarged yolk sac, and 72.2% in empty sac.
• Specific karyotypes showed associations with morphological types: Trisomy 22 predominantly in enlarged yolk sac, and 45,X in small embryo/fetus.

Conclusions:

• A significant association exists between specific abnormal karyotypes and distinct morphological findings in early pregnancy loss.
• TVS demonstration of developmental abnormalities in early pregnancy structures can aid in predicting aneuploidy in EPL cases.