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Am J Perinatol 2018; 35(05): 427-433
DOI: 10.1055/s-0037-1608632
Original Article
Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Prenatal and Postnatal Follow-up in Trisomies 13 and 18: A 20-Year Experience in a Tertiary Center

Özlem Akgün Doğan
1   Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey
,
Gizem Ürel Demir
1   Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey
,
Umut Arslan
2   Institute of Public Health, Hacettepe University, Ankara, Turkey
,
Pelin Özlem Şimşek-Kiper
1   Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey
,
Gülen Eda Utine
1   Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey
,
Mehmet Alikaşifoğlu
1   Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey
,
Koray Boduroğlu
1   Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey
› Author Affiliations Funding None.
Further Information

Publication History

09 June 2017

29 September 2017

Publication Date:
07 November 2017 (online)

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Abstract

Objective Trisomies 13 and 18 are among the most common autosomal aneuploidies associated with high mortality rates. Conventional management strategies offer to limit interventional support; however, some of the recent studies suggest that intervention does make a difference in terms of survival.

Study Design A retrospective cohort study was performed between January 1996 and January 2016, covering all cases with such trisomies. A total of 69 cases were reviewed for clinical aspects, outcome, and management strategies.

Results In almost all pregnancies with follow-up, at least one indication present for invasive testing (54/55). Invasive testing was not performed in 18.5% of such cases. All parents opted for termination in cases with prenatal diagnosis. None of the liveborns had prenatal diagnoses, thus, neonatal resuscitation and intensive care unit admission were not withheld in such infants. Major intervention was done in only one patient with full trisomy 13. Median survival for infants with full trisomies 13 and 18 was 36 and 60 days, respectively. Almost half the patients died within 1 month.

Conclusion To which extent the major interventions should be withheld is an issue of debate in managing such infants; however, current approaches are subject to change, given the technological advances.

Keywords

trisomy 13 - trisomy 18 - prenatal counseling - intervention - outcome
 

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