Polyploidy in First and Second Trimester Pregnancies in Romania - a Retrospective Study

Area of Science:

• Reproductive Genetics
• Cytogenetics
• Prenatal Diagnosis

Background:

• Polyploidy is a rare, lethal cytogenetic anomaly in pregnancies, often resulting in termination.
• Understanding polyploidy mechanisms is vital for reproductive health outcomes.

Purpose of the Study:

• To compare first and second trimester polyploidy in pregnancies.
• To elucidate the underlying mechanisms of polyploidy in pregnancy.

Main Methods:

• Retrospective study (2008-2018) across three Romanian medical genetics laboratories.
• Analysis of prenatal samples (chorionic villi, amniotic fluid) and miscarriages.
• Standard karyotyping, QF-PCR, and FISH techniques were employed.

Main Results:

• First trimester: 25 triploid and 13 tetraploid cases from miscarriage samples.
• Second trimester: 17 triploid cases identified from amniocentesis samples.
• Data included maternal age, gestational age, fetal gender, biochemical risk, and ultrasound findings.

Conclusions:

• Cytogenetic investigation of spontaneous abortions provides critical etiological information.
• This data is essential for genetic counseling and informs prenatal diagnosis in subsequent pregnancies.