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Mortality and morbidity of infants with trisomy 21, weighing 1500 grams or less, in Japan


Although very low birth weight (VLBW) is well studied in neonatology and the perinatal prognosis of VLBW infants has improved over time, little is known about the prognosis of VLBW infants with trisomy 21 (T21). We aimed to investigate the mortality and morbidity of VLBW infants with T21 during NICU admission in Japan, in comparison to those of infants without birth defects (BD−). Maternal and neonatal data of infants weighing 1500 grams or less admitted to the centers of the Neonatal Research Network of Japan from 2003 to 2016 were collected prospectively. Of 60,136 infants, 328 (0.55%) had T21. Although maternal age in the case of T21 infants was higher, maternal complications tended to be less frequent than in those with BD−. Multivariable analysis revealed that morbidities were higher in infants with T21 than in those with BD− but respiratory distress syndrome and retinopathy of prematurity were less frequent in those with T21 (p < 0.001, and p = 0.014, respectively), and no significant difference was observed between the two groups in the proportion of late-onset circulatory collapse of prematurity as well as cystic periventricular leukomalacia (p = 0.739 and p = 0.733, respectively). The survival rate at discharge from the NICU was 77% and 94% for T21 and BD−, respectively. This was the first nationwide survey of VLBW infants with T21 in Japan. Although there were no data regarding the timing of diagnosis, these data will aid prenatal genetic counseling and perinatal management of T21 infants.

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The 204 institutions enrolled in the study of the Neonatal Research Network of Japan are listed in the supplementary text.

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Correspondence to Takahiro Yamada.

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Kawasaki, H., Yamada, T., Takahashi, Y. et al. Mortality and morbidity of infants with trisomy 21, weighing 1500 grams or less, in Japan. J Hum Genet (2022).

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