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

نویسندگان

  • Laura P Chen
  • Anita E Beck
  • Karen D Tsuchiya
  • Penny M Chow
  • Ghayda M Mirzaa
  • Rebecca T Wiester
  • Kenneth W Feldman
چکیده

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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عنوان ژورنال:
  • Pediatrics

دوره 135 3  شماره 

صفحات  -

تاریخ انتشار 2015