title: The outcomes of 31 cases of trisomy 13 diagnosed in utero with various management options.
abstract: There are few reports on the prognosis of prenatally diagnosed trisomy 13 in relation to postnatal management. The aim of this study was to report on the prenatal and postnatal outcomes and postnatal management of trisomy 13 fetuses that were prenatally diagnosed at our center between 2003 and 2015. The data were retrospectively reviewed from medical records. Of the 31 cases of trisomy 13, 12 patients were diagnosed before 22 weeks of gestation, and 19 were diagnosed at or after 22 weeks of gestation. Nine families opted for termination of the pregnancy, 14 fetuses died, and 8 were born alive. Aggressive treatment was requested in two of the live births, with one patient achieving long-term survival (7 years). The other died during infancy (Day 61). One out of four who received palliative treatment is alive at two years of age with only nutrition supplementation. These three patients who achieved neonatal survival had few structural anomalies. Fetal death and early neonatal death are common in trisomy 13; however, fetuses that receive medical treatment for cases without major ultrasound abnormalities may achieve neonatal survival. Therefore, it is useful to provide comprehensive information, including precise ultrasound findings and treatment options, to parents with trisomy 13 fetuses during genetic counseling.
authors.affiliation: Center of Maternal-Fetal, Neonatal and Reproductive Medicine, National Center for Child Health and Development (NCCHD), Tokyo, Japan.
authors.forename: Ken
authors.identifier: http://orcid.org/0000-0003-2726-6709
authors.initials: K
authors.lastname: Takahashi
authors.affiliation: Center of Maternal-Fetal, Neonatal and Reproductive Medicine, National Center for Child Health and Development (NCCHD), Tokyo, Japan.
authors.forename: Aiko
authors.initials: A
authors.lastname: Sasaki
authors.affiliation: Center of Maternal-Fetal, Neonatal and Reproductive Medicine, National Center for Child Health and Development (NCCHD), Tokyo, Japan.
authors.forename: Seiji
authors.initials: S
authors.lastname: Wada
authors.affiliation: Center of Maternal-Fetal, Neonatal and Reproductive Medicine, National Center for Child Health and Development (NCCHD), Tokyo, Japan.
authors.forename: Yuka
authors.initials: Y
authors.lastname: Wada
authors.affiliation: Center of Maternal-Fetal, Neonatal and Reproductive Medicine, National Center for Child Health and Development (NCCHD), Tokyo, Japan.
authors.forename: Keiko
authors.initials: K
authors.lastname: Tsukamoto
authors.affiliation: Division of Medical Genetics, Department of Medical Subspecialties, National Center for Child Health and Development (NCCHD), Tokyo, Japan.
authors.forename: Rika
authors.initials: R
authors.lastname: Kosaki
authors.affiliation: Center of Maternal-Fetal, Neonatal and Reproductive Medicine, National Center for Child Health and Development (NCCHD), Tokyo, Japan.
authors.forename: Yushi
authors.initials: Y
authors.lastname: Ito
authors.affiliation: Center of Maternal-Fetal, Neonatal and Reproductive Medicine, National Center for Child Health and Development (NCCHD), Tokyo, Japan.
authors.forename: Haruhiko
authors.initials: H
authors.lastname: Sago
mesh_terms: D000025:Abortion, Eugenic / Q000706:statistics & numerical data; D000022:Abortion, Spontaneous / Q000175:diagnosis* / Q000235:genetics; D000328:Adult; D025063:Chromosome Disorders / Q000175:diagnosis* / Q000235:genetics / Q000401:mortality / Q000628:therapy*; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics; D019468:Disease Management; D005260:Female; D046689:Fetal Mortality; D005333:Fetus; D005817:Genetic Counseling / Q000941:ethics*; D005865:Gestational Age; D007722:Health Knowledge, Attitudes, Practice; D006801:Humans; D007621:Karyotyping; D050498:Live Birth / Q000235:genetics; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis; D050497:Stillbirth / Q000235:genetics; D016019:Survival Analysis; D016896:Treatment Outcome; D014314:Trisomy / Q000175:diagnosis* / Q000235:genetics; D000073839:Trisomy 13 Syndrome
keywords: aggressive treatment; genetic counseling; neonatal resuscitation; palliative treatment; prenatal diagnosis; trisomy 13