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

Doğan, Özlem Akgün; Demir, Gizem Ürel; Arslan, Ümüt; Şimşek‐Kiper, Pelin Özlem; Ütine, Gülen Eda; Alikaşifoğlu, Mehmet; Boduroğlu, Koray

doi:10.1055/s-0037-1608632

Cited by 5 publications

References 30 publications

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A rare case of postnatal mosaic trisomy 12 with severe congenital heart disease and literature review

Ayala

Dyer

et al. 2021

American J of Med Genetics Pt A

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Trisomy 12 is a rare autosomal aneuploidy. All postnatally diagnosed individuals with trisomy 12 have been mosaic for this chromosome abnormality. We herein report an infant girl presented at 2 weeks of age with severe congenital heart defect, tracheobronchomalacia, and dysmorphic features. All of the dysmorphic features of this patient fit into the known phenotype spectrum of mosaic trisomy 12, although this patient uniquely presented with macrocephaly. Tracheo‐bronchomalacia has been described once previously but had a significant impact on this patient's clinical course. The patient passed away at 2‐month‐old due to cardiac and respiratory complications. Chromosomal single nucleotide polymorphism (SNP) microarray analysis on a peripheral blood sample from the patient revealed trisomy 12 in approximately 50% of cells. Concurrent fluorescence in situ hybridization analysis of uncultured blood cells detected a comparable level of trisomy 12 mosaicism. Compared to conventional cytogenetics, SNP microarray examines all nucleated cells without sampling bias, has an increased power to estimate mosaicism level, and can provide a quick assessment of the underlying mechanism. Here we demonstrate the utilization of SNP microarray in the clinical diagnosis of those once considered rare disorders but might have been missed by conventional cytogenetic techniques.

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A rare case of postnatal mosaic trisomy 12 with severe congenital heart disease and literature review

Ayala

Dyer

et al. 2021

American J of Med Genetics Pt A

View full text Add to dashboard Cite

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A visual tool inclusive of fetal ultrasound and autopsy findings to reach a balanced approach to counseling on trisomy 18 in early second trimester

Triunfo

Bonollo

Gaffuri

et al. 2021

Arch Gynecol Obstet

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Perinatal Outcomes of Fetuses and Infants Diagnosed with Trisomy 13 or Trisomy 18

Cortezzo

Tolusso

Swarr

2022

The Journal of Pediatrics

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

Abstract: 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.

Cited by 5 publications

References 30 publications

A rare case of postnatal mosaic trisomy 12 with severe congenital heart disease and literature review

A rare case of postnatal mosaic trisomy 12 with severe congenital heart disease and literature review

A visual tool inclusive of fetal ultrasound and autopsy findings to reach a balanced approach to counseling on trisomy 18 in early second trimester

Perinatal Outcomes of Fetuses and Infants Diagnosed with Trisomy 13 or Trisomy 18

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