Pregnant women's preferences for prenatal genetic testing: A single‐center study in Japan

Abstract

Aim: To evaluate how many pregnant women would prefer to undergo prenatal genetic testing (GT) if they received adequate information during early gestation. Methods: We examined the preferences for prenatal GT among pregnant women visiting our general outpatient clinic before 16 weeks' gestation between September 2014 and September 2017. We provided them with informational brochures about prenatal GT at their first visit. Women always received genetic counseling (GC) before undergoing GT of their own choice. Results: Among 5700 pregnant women, 2077 (36.4%) received GC, and 1983 (34.8%) underwent some form of prenatal GT. The percentage undergoing GT was 9.4% (50/531) for women <30 years old, 19.0% (309/1623) for those 30-34 years old, 43.1% (989/2294) for those 35-39 years old, and 50.7% (635/1252) for those ≥40 years old. Older pregnant women tended to receive GC and GT more often than younger women (P < 0.001). The most common reason for receiving GC was advanced maternal age (79.7%). The most common prenatal GT was noninvasive prenatal testing (NIPT) (50%), followed by the combined test (29.0%) and quadruple test (11.2%). Pregnant women ≥35 years old tended to choose NIPT (60.5%), while those <35 years old tended to choose the combined test (52.9%). Conclusion: About one-third of the pregnant women preferred to receive prenatal GT by their own choice. Women's preferences for prenatal GT increased with maternal age; however, half of pregnant women with an advanced maternal age preferred not to undergo GT, even if they were well informed.

Periconceptional folic acid intake and disturbing factors: A single‐center study in Japan

“…This would be explained by higher awareness of congenital anomalies in pregnancy in women of advanced maternal age. 12 Multiparous women were less likely to take FA even having multiple chances in each pregnancy to learn about FA supplementation. A study demonstrated that awareness of the need for FA supplementation, together with preconceptional counseling and knowledge about NTDs, were strongly related to the intake of FA during the appropriate period.…”

Pregnant women’s opinions toward prenatal pretest genetic counseling in Japan

“…However, this model can be time-intensive and is not practical for serving a large population [7]. Although the implementation rate of prenatal testing in Japan where prenatal screening policies have not been adopted was reported to be <10% [8,9], a recent study in Japan suggested that onethird of pregnant women would choose to undergo prenatal testing after being provided information on prenatal testing at their first prenatal visit [10].…”