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Institutional protocol to manage consanguinity detected by genetic testing in pregnancy in a minor.

Authors
Type
Published Article
Journal
PEDIATRICS
1098-4275
Publisher
American Academy of Pediatrics
Publication Date
Volume
135
Issue
3
Identifiers
DOI: 10.1542/peds.2014-2593
PMID: 25687148
Source
Medline
Keywords
  • Dna Sequence Analysis
  • Consanguinity
  • Genetic Testing
  • Pregnancy In Adolescence
  • Rape
  • Single Nucleotide Polymorphism

Abstract

Single-nucleotide polymorphism arrays and other types of genetic tests have the potential to detect first-degree consanguinity and uncover parental rape in cases of minor teenage pregnancy. We present 2 cases in which genetic testing identified parental rape of a minor teenager. In case 1, single-nucleotide polymorphism array in a patient with multiple developmental abnormalities demonstrated multiple long stretches of homozygosity, revealing parental rape of a teenage mother. In case 2, a vague maternal sexual assault history and diagnosis of Pompe disease by direct gene sequencing identified parental rape of a minor. Given the medical, legal, and ethical implications of such revelations, a protocol was developed at our institution to manage consanguinity identified via genetic testing.

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