title: Institutional protocol to manage consanguinity detected by genetic testing in pregnancy in a minor.
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.
authors: Seattle Children's Hospital, Seattle, Washington;
authors: Laura P
authors: LP
authors: Chen
authors: Seattle Children's Hospital, Seattle, Washington; Department of Pediatrics, University of Washington, Seattle, Washington;
authors: Anita E
authors: AE
authors: Beck
authors: Seattle Children's Hospital, Seattle, Washington; Department of Laboratory Medicine, University of Washington Medical Center, Seattle, Washington;
authors: Karen D
authors: KD
authors: Tsuchiya
authors: Seattle Children's Hospital, Seattle, Washington;
authors: Penny M
authors: PM
authors: Chow
authors: Seattle Children's Research Institute, Seattle, Washington; and.
authors: Ghayda M
authors: GM
authors: Mirzaa
authors: Seattle Children's Hospital, Seattle, Washington; Department of Pediatrics, University of Washington, Seattle, Washington; Seattle Children's Protection Program, Seattle, Washington.
authors: Rebecca T
authors: RT
authors: Wiester
authors: Seattle Children's Hospital, Seattle, Washington; Department of Pediatrics, University of Washington, Seattle, Washington; Seattle Children's Protection Program, Seattle, Washington ken.feldman@seattlechildrens.org.
authors: Kenneth W
authors: KW
authors: Feldman
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D000293:Adolescent; D002648:Child; D003241:Consanguinity; D005260:Female; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D007231:Infant, Newborn; D020411:Oligonucleotide Array Sequence Analysis; D011247:Pregnancy
keywords: DNA sequence analysis; consanguinity; genetic testing; pregnancy in adolescence; rape; single nucleotide polymorphism