Rapid karyotyping in non-lethal fetal malformations.

Area of Science:

• Prenatal Diagnosis
• Medical Genetics
• Fetal Medicine

Background:

• Ultrasonography is crucial for detecting fetal anomalies during pregnancy.
• Accurate and timely genetic information is vital for managing pregnancies with fetal malformations.

Purpose of the Study:

• To assess the utility of rapid fetal karyotyping in pregnancies with sonographically detected fetal anomalies.
• To determine the incidence of chromosomal abnormalities in various fetal malformations.

Main Methods:

• Fetal blood samples were collected fetoscopically from 118 pregnancies (16-36 weeks' gestation).
• Cytogenetic analysis of fetal lymphocytes was performed, with results available in 2-4 days.

Main Results:

• Chromosomal abnormalities were detected in 12/37 fetuses with non-haemolytic hydrops fetalis and 8/12 with exomphalos.
• Abnormalities were also found in 9/39 with obstructive uropathy and 3/4 with choroid plexus cysts.
• 3 fetuses with gastroschisis showed normal karyotypes.

Conclusions:

• Rapid fetal karyotyping is advisable for sonographically detected non-lethal or potentially correctable fetal malformations.
• This diagnostic approach supports informed clinical decision-making in the second and third trimesters.
• Early genetic diagnosis can guide management strategies for affected pregnancies.