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Natural history of fetal trisomy 18 after prenatal diagnosis

Abstract

Objective To evaluate the natural fetal and neonatal outcome for pregnancies with an established prenatal diagnosis of fetal trisomy 18, and a parental decision for continuation of the pregnancy.

Methods The obstetric and neonatal outcome data for 23 such pregnancies, diagnosed at a single referral Fetal Medicine Centre, were retrospectively obtained.

Results The overall intrauterine fetal death rate was 61%, with a progressive decline in live fetuses up to 39 weeks gestation. For fetuses diagnosed before 20 weeks gestation, there was a trend towards a higher intrauterine fetal death rate (88%), in comparison to those diagnosed after this period (44%) (p=0.06). For live births, the preterm delivery rate was 44%. All infants born alive died within 48 h of birth.

Conclusion These data provide reliable information for parental counselling pertaining to risk of intrauterine death when trisomy 18 is diagnosed prenatally. These findings suggest that long-term survival implications for trisomy 18 are different when it is diagnosed prenatally.

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