REPORT OF TWO CASES OF ABNORMAL PREGNANCIES DUE TO CONFINED PLACENTAL MOSAICISM OF TRISOMY 16

Thị Sim Nguyễn, Trọng Hưng Mai, Khánh Dung Hồ, Thị Bích Thủy Vương, Thị Hương Ngô, Thị Thu Cảnh Trần, Thế Vương Phạm, Tiến Hòa Vương, Thị Thanh Hiền Phạm, Ngọc Dũng Nguyễn

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Abstract

From conception to delivery, the placenta plays a crucial intermediary role between the mother and the fetus. Numerous studies have highlighted the association between intrauterine growth restriction (IUGR) and placental chromosomal abnormalities, particularly confined placental mosaicism (CPM) of Trisomy 16. We report two cases of IUGR with non-invasive prenatal screening (NIPS) results suggestive of chromosomal abnormality 16, in which CPM of Trisomy 16 was subsequently confirmed. One pregnancy resulted in a live birth, while the other ended in an intrauterine fetal demise. Based on these cases, we recommend prenatal screening for chromosomal abnormality 16 to enable early detection and prognostication of placental abnormalities leading to IUGR

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References

Turowski G, Vogel M. Re-view and view on maturation disorders in the placenta. APMIS. Jul 2018;126(7):602-612. doi:10.1111/apm.12858
2. Salomon LJ, Alfirevic Z, Da Silva Costa F, et al. ISUOG Practice Guidelines: ultrasound assessment of fetal biometry and growth. Ultrasound Obstet Gynecol. Jun 2019;53(6):715-723. doi:10.1002/uog.20272
3. Stipoljev F, Latin V, Kos M, Miskovic B, Kurjak A. Correlation of confined placental mosaicism with fetal intrauterine growth retardation. A case control study of placentas at delivery. Fetal Diagn Ther. Jan-Feb 2001;16(1):4-9. doi:10.1159/000053871
4. Baffero GM, Somigliana E, Crovetto F, et al. Confined placental mosaicism at chorionic villous sampling: risk factors and pregnancy outcome. Prenat Diagn. Nov 2012;32(11):1102-8. doi:10.1002/pd.3965
5. Simoni G, Brambati B, Maggi F, Jackson L. Trisomy 16 confined to chorionic villi and unfavourable outcome of pregnancy. Ann Genet. 1992;35(2):110-2.
6. Pylyp LY, Spynenko LO, Verhoglyad NV, Mishenko AO, Mykytenko DO, Zukin VD. Chromosomal abnormalities in products of conception of first-trimester miscarriages detected by conventional cytogenetic analysis: a review of 1000 cases. J Assist Reprod Genet. Feb 2018;35(2): 265-271. doi:10.1007/s10815-017-1069-1
7. Sparks TN, Thao K, Norton ME. Mosaic trisomy 16: what are the obstetric and long-term childhood outcomes? Genet Med. Oct 2017; 19(10):1164-1170. doi:10.1038/gim.2017.23
8. Grau Madsen S, Uldbjerg N, Sunde L, Becher N, Danish Fetal Medicine Study G, Danish Clinical Genetics Study G. Prognosis for pregnancies with trisomy 16 confined to the placenta: A Danish cohort study. Prenat Diagn. Dec 2018; 38(13): 1103-1110. doi:10.1002/ pd.5370