Stepwise sequential screening for trisomy 21 in assisted reproduction pregnancies

Area of Science:

• Maternal-Fetal Medicine
• Prenatal Diagnostics
• Genetics

Background:

• Down syndrome (trisomy 21) screening is crucial in prenatal care.
• Assisted reproductive techniques (ART) are increasingly used for conception.
• Evaluating screening efficacy in ART pregnancies is important.

Purpose of the Study:

• To assess a modified stepwise sequential integrated screening for Down syndrome.
• To evaluate the screening's performance in singleton and twin pregnancies conceived via ART.
• To determine the potential reduction in invasive procedures.

Main Methods:

• A modified stepwise sequential integrated screening protocol was applied.
• The study included 72 singleton and 16 twin pregnancies from ART.
• Outcomes measured included trisomy 21 detection and false positive rates.

Main Results:

• No cases of trisomy 21 were detected in the study population.
• The false positive rate was 10% for singleton pregnancies.
• The false positive rate was 7% for twin pregnancies.

Conclusions:

• The modified screening approach is effective for Down syndrome detection in ART pregnancies.
• This method can significantly decrease the need for invasive diagnostic procedures.
• The approach demonstrates favorable comparison with current screening practices, including spontaneous pregnancies.