The natural history of pregnancies with a diagnosis of Trisomy 18 or Trisomy 13; a retrospective case seriesReport as inadecuate

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BMC Pregnancy and Childbirth

, 13:209

Trends in pregnancy and childbirth


BackgroundTrisomy 18 T18 and trisomy 13 T13 are the second and third commonest autosomal aneuploidy syndromes respectively. While specific aspects of affected pregnancies have been documented in the literature, few studies document the overall natural history of the trisomies. This study aimed to examine the natural history including diagnosis, pregnancy outcome, complications and survival of T18 and T13 pregnancies in a setting where termination of pregnancy for fetal abnormality is not available.

MethodsCases were identified using birth registers, labour ward records, annual reports, medical records, ultrasound reports and reports from prenatal genetic testing. All identified T18 and T13 pregnancies in the study region from 2001 to 2012 were included. Individual chart reviews were performed for each case. Data were analysed using SPSS Version 20.

ResultsForty-six T18 and twenty-four T13 pregnancies were identified. Most T18 cases 65% were diagnosed prenatally, while only one third 33% of T13 cases were prenatally diagnosed. Only three T18 pregnancies and one T13 pregnancy were electively terminated. A proportion of undiagnosed infants were delivered by emergency caesarean section. 48% T18 and 46% T13 infants survived following birth, for a median of 1.5 days T18 and 7 days T13. One T13 infant is currently alive over one year of age.

ConclusionsThis large series provides information for professionals and women regarding the natural histories of trisomies 18 and 13. These pregnancies can go undiagnosed antenatally without routine anomaly scanning. While many fetuses die in-utero, postnatal survival is possible.

KeywordsTrisomy 18 Trisomy 13 Aneuploidy Pregnancy AbbreviationsT18Trisomy 18

T13Trisomy 13

IQRInterquartile range.

Electronic supplementary materialThe online version of this article doi:10.1186-1471-2393-13-209 contains supplementary material, which is available to authorized users.

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Author: Orla A Houlihan - Keelin O’Donoghue


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