Trisomy Disorders

The risk of fetal loss following a prenatal diagnosis of trisomy 13 or trisomy 18

Am J Med Genet A. 2008 Feb 4

Centre for Environmental and Preventive Medicine, Wolfson Institute of Preventive Medicine, St. Bartholomew's and the London, Queen Mary's School of Medicine and Dentistry, Charterhouse Square, London, UK.

email: Joan K. Morris (j.k.morris@qmul.ac.uk)

*Correspondence to Joan K. Morris, Centre for Environmental and Preventive Medicine, Wolfson Institute of Preventive Medicine, St Bartholomew's and the London, Queen Mary's School of Medicine and Dentistry, Charterhouse Square, London EC1M 6BQ, UK.

The objective of this study is to determine the risk of fetal loss (spontaneous abortion or stillbirth) following a prenatal diagnosis of trisomy 13 (T13; Patau syndrome) or trisomy 18 (T18; Edwards syndrome). Five regional congenital anomaly registers in England and Wales provided details on the outcomes of 198 pregnancies prenatally diagnosed with T13 and 538 prenatally diagnosed with T18. For each pregnancy the time from prenatal diagnosis until birth, miscarriage or termination occurred was calculated and these times were analyzed using Kaplan-Meier survival functions. Our results showed that between 12 weeks gestation and term an estimated 49% (95% CI: 29-73%) of pregnancies diagnosed with T13 and 72% (61-81%) of pregnancies diagnosed with T18 ended in a miscarriage or stillbirth. Between 18 weeks and term the proportions were 42% (18-72%) for T13 and 65% (57-79%) for T18 and between 24 weeks and term the proportions were 35% (5-70%) for T13 and 59% (49-77%) for T18. Male fetuses with T18 appeared to be more likely to be lost than female fetuses. These are the most precise estimates currently available for the risk of loss in a general population. These estimates should be useful in counseling women who are carrying an affected fetus and knowing the risk of fetal loss is essential to compare the performance of prenatal screening programs occurring in the first and second trimester.

2008 Wiley-Liss, Inc.

Tags: Trisomy 13, Trisomy 18, Edwards Syndrome, Patau Syndrome, fetal loss, prenatal diagnosis

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