Attitude changes toward prenatal testing among women with twin pregnancies after the introduction of noninvasive prenatal testing: A single‐center study in Japan

Abstract

Aim: This study aimed to evaluate changes in prenatal testing among women with twin pregnancies before and after the introduction of noninvasive prenatal testing (NIPT). To date, no consensus on prenatal testing for twin pregnancies has been reached in Japan. Methods: Women pregnant with twins who requested prenatal testing at Kyushu Medical Center from 2005 to 2018 were included in this study. Genetic counseling was provided to all participants. Their chosen methods of testing were collected and classified as invasive diagnosis (ID), noninvasive screening (NIS), and no test requested (NR). Parity, chorionicity, and methods of conception were assessed as attributes. The study period was divided into three terms according to testing availability in our center. Results: After NIPT was introduced in our center, the use of ID methods decreased and eventually disappeared while NIS came to the forefront. NR was also the preferred choice of women with twin pregnancies before the introduction of NIPT and decreased but did not disappear after introducing NIPT. Women with twin pregnancies who underwent assisted reproduction initially showed hesitation to undergo testing but showed a strong preference for NIS after the introduction of NIPT. Differences in choice according to parity, chorionicity, and methods of conception were found before the introduction of NIPT but disappeared after introducing NIPT. Conclusion: Increasing information about NIPT has apparently influenced the attitudes of women with twin pregnancies to prenatal testing in Japan. In particular, those who conceive through assisted reproductive technologies exhibited a strong preference for NIPT.

Limited ability of increased sequencing depth in detecting cases missed by noninvasive prenatal testing: a comparative analysis of 3 clinical cases

“…NIPT has been used in the prenatal detection of twins for many years, and its detection ability has also been clinically recognized to some extent. In Japan, more women with twin pregnancies tend to choose to undergo NIPT, especially those who conceive through assisted reproductive technology (ART) 28 . Fosler et al 29 reported the detection of trisomy 21 by cell-free fetal DNA (cff-DNA)-based whole-genome sequencing (WGS) NIPT in twin pregnancies and found that its performance was almost the same as that in singleton pregnancies, with a very low overall false-positive rate.…”