A case report of trisomy 16 with mosaicism with intrauterine growth restriction

Raisham Saleem; Rabia Mehboob; Jean Aupont; Mustafa Ahmed

doi:10.18203/2320-1770.ijrcog20242658

Authors

Raisham Saleem Department of Obstetrics and Gynaecology, Southend University Hospital, Essex, United Kingdom
Rabia Mehboob Department of Obstetrics and Gynaecology, Basildon University Hospital, Essex, United Kingdom
Jean Aupont Department of Obstetrics and Gynaecology, Southend University Hospital, Essex, United Kingdom
Mustafa Ahmed Department of Fetal Medicine, Obstetrics and Gynaecology, Basildon University Hospital, Essex, United Kingdom

DOI:

https://doi.org/10.18203/2320-1770.ijrcog20242658

Keywords:

Trisomy 16, Mosaicism, Intrauterine growth restriction, Fetal anomaly, Miscarriages

Abstract

Trisomy 16 is one the common cause of miscarriages in the 1^st and 2^nd trimesters. Trisomy 16 mosaicism is rarely detected by amniocentesis in the second trimester. Intrauterine growth restriction (IUGR) is one of the common outcomes of mosaic trisomy 16. Hence, we report a case of trisomy 16 mosaicism diagnosed by the cytogenetic analysis of amniotic fluid cells. The baby had an intrauterine growth restriction and interestingly her karyotype was normal. As trisomy 16 mosaic fetuses does not have a characteristic phenotype, it is recommended to inform the possibility of mosaicisms including this trisomy 16 mosaicism during prenatal genetic diagnosis and genetic counselling for parents.

Metrics

Metrics Loading ...

References

Kim SR, Choi EJ, Kim YJ, Kim TY, Lee YJ. Prenatally Diagnosed Rare Trisomy 16 Mosaicism in Human Amniotic Fluid Cells in the Second Trimester: A Case Report. Dev Reprod. 2018;22(2):199-203.

Chareonsirisuthigul T, Worawichawong S, Parinayok R, Promsonthi P, Rerkamnuaychoke B. Intrauterine growth retardation fetus with trisomy 16 mosaicism. Case Rep Genet. 2014;2014:739513.

Peng H, Yang J, Wang D, Guo F, Hou Y, Yin A. Outcomes of pregnancies with trisomy 16 mosaicism detected by NIPT: a series of case reports. Mol Cytogenet. 2021;14(1):44.

Eggenhuizen GM, Go ATJI, Sauter Z, Hoffer MJV, Haak MC, Geeven G, et al. The role of confined placental mosaicism in fetal growth restriction: A retrospective cohort study. Prenat Diagn. 2024;44(3):289-96.

Yong PJ, Barrett IJ, Kalousek DK, Robinson WP. Clinical aspects, prenatal diagnosis, and pathogenesis of trisomy 16 mosaicism. J Med Genet. 2003;40(3):175-82.

Wolstenholme J. An audit of trisomy 16 in man. Prenat Diagn. 1995;15(2):109-21.

Kalousek DK, Barrett I. Confined placental mosaicism and stillbirth. Pediatr Pathol. 1994;14(1):151-9.

Kalousek DK, Langlois S, Barrett I, Yam I, Wilson DR, Howard-Peebles PN, et al. Uniparental disomy for chromosome 16 in humans. Am J Hum Genet. 1993;52(1):8-16.

Hashish AF, Monk NA, Lovell-Smith MP, Bardwell LM, Fiddes TM, Gardner RJ. Trisomy 16 detected at chorion villus sampling. Prenat Diagn. 1989;9(6):427-32.

Chen CP, Ko TM, Chern SR, Wu PS, Chen SW, Wu FT, et al. Prenatal diagnosis of maternal uniparental disomy 16 associated with mosaic trisomy 16 at amniocentesis, and pericardial effusion and intrauterine growth restriction in the fetus. Taiwan J Obstet Gynecol. 2021;60(3):534-9.

Coman D, Gardner RJ, Pertile MD, Kannu P. Trisomy 16 mosaicism at chorionic villus sampling and amniocentesis with a normal physical and intellectual outcome. Fetal Diagn Ther. 2010;28(2):117-8.