Research Day

Atypical Presentation of Trisomy 13 in the Context of Maternal Amphetamine and Benzodiazepine Abuse

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Abstract Title: ATYPICAL PRESENTATION OF TRISOMY 13 IN THE CONTEXT OF MATERNAL AMPHETAMINE AND BENZODIAZEPINE ABUSE Abstract ID: 244 Abstract Category: Clinical Research Patrick Staso MD and Theotonius Gomes MD 
An atypical case of Trisomy 13 (47,+13) with three independent copies of Trisomy 13 identified by Microarray Analysis confirmed with limited chromosomal analysis. 
A term appearing infant later confirmed to be of 38 weeks gestational age was delivered in the pre-hospital setting via spontaneous vaginal delivery to a 33 year old G4P1022 mother with no prenatal care in ambulance en route to hospital. She had meconium stained amniotic fluid, ruptured at delivery with unknown GBS status. APGAR scores were noted at 3 and 6 at 1 and 5 minutes, respectively. Mother was unaware of her current pregnancy and had a history of preeclampsia, 2 prior spontaneous abortions, and depression. There was no history of maternal medication use; however, a urine drug screen was positive for amphetamines, methamphetamines and benzodiazepines. Mother’s history was also significant for prior previous term twin delivery. 
The child presented to the Neonatal Intensive Care Unit and was found to have an un-ruptured omphalocele (beside reduced at 9 hrs of life), postaxial polydactyly of bilateral hand and toes, partial syndactally of bilateral halluxes, and dysmorphic facial features. A portable CXR was obtained which showed meso/dextrocardia. A 3/6 loud systolic murmur was noted and a cardiac echo demonstrated a small secundum ASD, large mal-aligned VSD or possible double outlet right ventricle (DORV) and moderate sized PDA with mild biventricular hypertrophy. 
Patau syndrome has a prevalence between 1:7,000-29,000 depending on the source and is the third most common autosomal trisomy. The average length of survival is approximately 9 months with 90% of patients dying before the age of 1 year. Methamphetamines have only been mentioned in one other case report as a possible cause and no association of benzodiazepines were found. As well, an omphalocele is not common to Patau, but rather, is associated with Edward Syndrome (Trisomy 18). Most cases of trisomy 13 result from nondisjunction and have a low chance of recurrence. Overall, the low prevalence of this disorder, distinct abnormalities to this case, and possible etiologies from illicit substances makes this case important to share with the medical community.

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