Trisomy 16 detected by first trimester screening

Petracchi, Florencia; Igarzabal, Laura; Crespo, M.; Gadow, Enrique C.

doi:10.1002/pd.2369

Cited by 13 publications

(16 citation statements)

References 9 publications

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“…It seems that the variables included in the cFTS perform much better than maternal age in predicting trisomy 16, with the concentration of PAPP‐A probably being the single most informative factor as also suggested in another study . Concordantly, trisomy 16 was observed more frequently in CVSs obtained after the introduction of cFTS than before.…”

Section: Discussionsupporting

confidence: 51%

“…It seems that the variables included in the cFTS perform much better than maternal age in predicting trisomy 16, with the concentration of PAPP-A probably being the single most informative factor as also suggested in another study. 11 Concordantly, trisomy 16 was observed more frequently in CVSs obtained after the introduction of cFTS than before. In addition, we observed a statistically significant higher risk of adverse pregnancy outcome when the indication for the CVS had been an increased risk of fetal aneuploidy as estimated by cFTS (only 12.5% had a normal outcome) as compared with when the indication had been maternal age, ie, the CPM16 diagnosis being more or less a coincidental finding (75% had a normal outcome).…”

Section: Discussionmentioning

confidence: 72%

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Prognosis for pregnancies with trisomy 16 confined to the placenta: A Danish cohort study

et al. 2018

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Objective To evaluate the risk of adverse pregnancy outcome when trisomy 16 confined to the placenta is diagnosed and to identify possible prognostic markers for adverse outcomes in these pregnancies. Method Registered cases (n = 49) of trisomy 16 diagnosed prenatally in Denmark from 1990 to 2013 were included. Results Twenty‐five of the pregnancies intended to be continued had confined placental trisomy 16 mosaicism (CPM16). Adverse pregnancy outcome was seen in 17 CPM16 pregnancies (68%), ranging from mild small for gestational age (SGA) to fetal malformations and intrauterine demise. For cases ascertained by combined first trimester screening, the median concentration of pregnancy associated plasma protein A (PAPP‐A) was 0.17 MoM (IQR: 0.11 MoM). Adverse pregnancy outcome showed a trend toward an association with a high frequency of trisomic cells. Eight children (32%) were born at term with a normal birth weight and no malformations. Conclusion The risk of adverse pregnancy outcome in case of CPM16 is correlated to ascertainment by combined first trimester screening and tends to be associated with a high frequency of trisomic cells in the placenta. We recommend that variables including ascertainment, the frequency of trisomic cells, and the maternal serum concentration of PAPP‐A are taken into consideration when evaluating the prognosis in CPM16 while acknowledging that these factors are strongly correlated.

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Section: Discussionsupporting

confidence: 51%

Section: Discussionmentioning

confidence: 72%

Prognosis for pregnancies with trisomy 16 confined to the placenta: A Danish cohort study

et al. 2018

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“…However, this association may represent ascertainment bias since systematic screening for these aneuploidies is uncommon. Recent data from cFTS show that while nuchal translucency is not significantly increased in cases of placental T16 or T20, the serum levels of the biochemical markers are affected in a combination of increased FβhCG MoM and decreased PAPP‐A MoM in the first and second trimesters …”

Section: Introductionmentioning

confidence: 99%

First trimester screening for other trisomies than trisomy 21, 18, and 13

et al. 2015

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“…Trisomy 16 is the most commonly observed trisomy in spontaneous abortuses, accounting for over 30% of the autosomal trisomies [1–4]. Trisomy 16 mosaicism diagnosed postnatally has rarely been reported at amniocentesis and is even more exceptionally seen in live borns [3, 5–7].…”

Section: Introductionmentioning

confidence: 99%

Intrauterine Growth Retardation Fetus with Trisomy 16 Mosaicism

Chareonsirisuthigul

Worawichawong

Parinayok

et al. 2014

Case Reports in Genetics

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Fetal trisomy 16 is considered uniformly lethal early in gestation. It has been reported to be associated with the variability of clinical features and outcomes. Mosaic trisomy 16 leads to a high risk of abnormality in prenatal cases. Intrauterine growth retardation (IUGR) is a common outcome of mosaic trisomy 16. Herein, we report on the case of Thai male IUGR fetus with trisomy 16 mosaicism. The fetal body was too small. Postmortem investigation of placenta revealed the abnormality including small placenta with furcated cord insertion and single umbilical cord artery. Cytogenetic study demonstrated trisomy 16 that was found 100% in placenta and only 16% in the fetal heart while other organs had normal karyotype. In addition, cardiac and other internal organs examination revealed normal morphology.

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Trisomy 16 detected by first trimester screening

Cited by 13 publications

References 9 publications

Prognosis for pregnancies with trisomy 16 confined to the placenta: A Danish cohort study

Prognosis for pregnancies with trisomy 16 confined to the placenta: A Danish cohort study

First trimester screening for other trisomies than trisomy 21, 18, and 13

Intrauterine Growth Retardation Fetus with Trisomy 16 Mosaicism

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