Increased Nuchal Translucency and Early Growth Retardation Related to Confined Placental Mosaicism of Trisomy 16 in a Dichorionic Twin

Kyeong, Kyu-Sang; Yeon, Hyeonkyeong; Jeong, Eun-Hwan

doi:10.3109/15513815.2015.1068415

Cited by 2 publications

References 15 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

Mosaic trisomy 16: what are the obstetric and long-term childhood outcomes?

Sparks

Thao

Norton

2017

Genetics in Medicine

View full text Add to dashboard Cite

Purpose To evaluate obstetric and neonatal outcomes as well as long-term neurodevelopmental outcomes and quality of life among prenatally detected cases of mosaic trisomy (MT16) and confined placental mosaicism (CPM) for trisomy 16. Methods We recruited participants for this cross-sectional study through an international registry of families with children diagnosed with MT16 or CPM. Parents were interviewed about expectations based on prenatal counseling as well as about actual perinatal outcomes, congenital anomalies, medical conditions, and school progress. Health-related quality of life (HRQOL) was assessed via the Pediatric Quality of Life Inventory 4.0 Generic Core Scales. Results Forty-four families were enrolled, and 68.2% of the children were female. Common complications were gestational hypertension (gHTN) or preeclampsia (38.1%), preterm delivery (PTD; 71.4%), cesarean delivery (CD; 73.8%), birth weight <10th percentile (73.8%), neonatal intensive care unit (NICU) admission (88.1%), and congenital anomalies (59.5%). However, 81.8% of school-aged children were entirely in mainstream classes, and median physical, psychosocial, and total HRQOL scores were high: 90.6 (34.4–100), 86.7 (35–100), and 84.8 (34.8–100), respectively (100 = optimal quality of life). Conclusion Several obstetric and neonatal complications are common with pregnancies affected by MT16 or CPM. However, the majority of children demonstrate normal neurodevelopmental outcomes and high HRQOL.

show abstract