[PRENATAL DIAGNOSIS OF FOETAL TRISOMY 3Q WITH PATERNAL ORIGIN]

Area of Science:

• Human Genetics
• Prenatal Diagnosis
• Cytogenetics

Background:

• Balanced chromosomal translocations are typically asymptomatic but increase risks of miscarriage and unbalanced offspring.
• Prenatal diagnosis of unbalanced translocations can reveal familial balanced translocations.

Observation:

• A fetus with trisomy 3q (46,XYder(3)t(3;21)(q11;p11)) was detected via prenatal ultrasound due to growth retardation and multiple anomalies.
• Cytogenetic analysis identified a balanced paternal translocation, 46,XY,t(3;21)(q11;p11), as the source of the fetal chromosomal aberration.

Findings:

• The same paternal balanced translocation was identified in a subsequent pregnancy.
• This case underscores the link between fetal chromosomal abnormalities and parental translocations.

Implications:

• Prenatal ultrasound screening is crucial for detecting fetal anomalies.
• Cytogenetic analysis in fetuses with abnormalities is essential for identifying parental carriers.
• Genetic counseling is vital for families with translocations to ensure appropriate prenatal care and prevention in future pregnancies.