Case Studies

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AlanaDecember 2014

Alana was born in 2009 and was diagnosed at 20 weeks gestation with mosaic trisomy 9. She lives in the United States. Participation in the TRIS project began in 2010 at the age of two months. 

Mother was 38 and father was 38 years old at time of conception. Mother reported general knowledge of rare trisomy conditions due to a friend with a child with a genetic condition. Mother noted low amniotic fluid starting at 36 weeks gestation.   [Click to see the Entire Case Study]


Samuel November 2014

Samuel was born in 1998 and was diagnosed seven weeks after birth with mosaic trisomy 13. He lives in the United States. Participation in the TRIS project began in 2008 at the age of 158 months. 

Mother was 34 and father was 36 years old at time of conception. Mother reported general knowledge of rare trisomy conditions due to training as a nurse. Mother also notes experiences preeclampsia, toxemia and gestational hypertension during pregnancy.   [Click to see the Entire Case Study]


Mackenzie October 2014

Mackenzie was born in 2009 and was diagnosed three days after birth (trisomy 9 mosaic). She lives in the United States. Participation in the TRIS project began in 2013 at the age of 44 months. 

Mother was 39 and father was 37 years old at time of conception. After conception, parents reported general knowledge of rare trisomy conditions. Child with rare trisomy was the second of two pregnancies (gravida, 2; para, 2). Older sibling has been diagnosed with an autism spectrum disorder.  [Click to see the Entire Case Study]


EmersonSeptember 2014

Emerson was born in 2011 and was prenatally diagnosed with partial trisomy 18q. He lives in the United States. Participation in the TRIS project began in 2012 at the age of 13 months.

Mother was 29 and father was 32 years old at the time of conception. Child with rare trisomy was fifth of six pregnancies (gravida, 6; para, 5). One male sibling was also diagnosed with partial trisomy 18q and lived for nine hours. Additionally, mother had a miscarriage at seven weeks four days during a subsequent pregnancy due to an unknown cause. Parents suspected a monosomy condition. A sibling was born this summer.

Mother has been diagnosed with a balanced translocation between the 13th and 18th chromosome. [Click to see the Entire Case Study]


Luka August 2014

Luka was born in 2009 and was prenatally diagnosed (partial trisomy 9). Child lives in the United States. Participation in the TRIS project began in 2009 at the age of 2 months.

Mother was 34 and father was 39 years old at the time of conception. Trisomy condition was suspected prenatally. No siblings have been diagnosed with a genetic, terminal, medical, or neurological condition. [Click to see the Entire Case Study]


Jonathan

July 2014

Jonathan was born in 2001 and was not prenatally diagnosed (full trisomy 13). He lives in the United States. Participation in the TRIS project began in 2007.

Mother was 39 and father was 36 years old at the time of conception. Child with rare trisomy was sixth of six pregnancies (gravida, 6; para, 6). No siblings have been diagnosed with a genetic, terminal, medical, or neurological condition. [Click to see the Entire Case Study]


MadisonJune 2014

Madison was born in 2008 and was prenatally diagnosed trisomy 18. She lives in the United States. Participation in the TRIS project began in 2009. Mother was 30 and father was 31 years old at the time of conception. Child with rare trisomy was the first of two children (gravida 2, para 2). [Click to see the Entire Case Study]


MaristellaMay 2014

Maristella was born in 2009. Trisomy 18 was suspected but not confirmed before birth. Child lives in the United States. Participation in the TRIS project began in 2010.

Mother was 39 and father was 56 years old at the time of conception. Child with a rare trisomy condition was third of three pregnancies (gravida 3, para 2; ab 1). Parents were aware of rare trisomy conditions from a previous pregnancy. [Click to see the Entire Case Study]


GabbyApril 2014

Gabby was born in 2002 and was not prenatally diagnosed (karyotype revealed isochromosome 14; trisomy 14 mosaic was diagnosed several days after birth). She lives in the United States. Participation in the TRIS project began in 2008. 

Mother was 25 and father was 25 years old at the time of conception. Child with a rare trisomy condition was second of three pregnancies (gravida, 3; para, 3). No siblings have been diagnosed with a genetic, terminal medical or neurological condition. Neither parent was aware of rare trisomy conditions prior to their child’s diagnosis. [Click to see the Entire Case Study]


KaydenMarch 2014

Kayden was born in 2001 without a prenatal diagnosis. He was diagnosed with an unbalanced translocation from the 18th to the 13th chromosome (t18q;13). He lives in the United States. Participation in the TRIS project began in 2008.

Mother was 24 and father was 27 years old at time of conception. Trisomy condition was not suspected prenatally. Child with rare trisomy was second of four pregnancies (gravida, 5; para, 3 – one molar pregnancy and currently pregnant). No siblings have been diagnosed with a genetic, terminal, medical, or neurological condition. [Click to see the Entire Case Study]



NataliaFebruary 2014

Natalia was born in 2000 and was not prenatally diagnosed (trisomy 13). She lives in the United States. Participation in the TRIS project began in 2007. Mother was 39 and father was 49 years old at the time of conception. Mother declined AFP test at 20 weeks due to a previous false positive. Child with rare trisomy was seventh of seven pregnancies (gravida, 7; para, 4). No siblings have been diagnosed with a genetic, terminal, medical, or neurological condition. [Click to see the Entire Case Study]


AniellaJanuary 2014

Aniella was born in 2005 and was prenatally diagnosed with full trisomy 18. She lives in the United States. Participation in the TRIS project began in 2011.

Mother was 36 and father was 32 years old at the time of conception. Child with a rare trisomy condition was fifth of six pregnancies (gravida, 6; para, 6). No siblings have been diagnosed with a genetic, terminal medical or neurological condition. Neither parent was aware of rare trisomy conditions prior to their child’s diagnosis. [Click to see the Entire Case Study]