CCMG guidelines: prenatal and postnatal diagnostic testing for uniparental disomy

Dawson, Angelika J.; Chernos, Judy; McGowan‐Jordan, Jean; Lavoie, Josée; Shetty, Shashirekha; Steinraths, Michelle; Wang, J.-C.; Xu, Jie

doi:10.1111/j.1399-0004.2010.01547.x

Cited by 30 publications

(36 citation statements)

References 36 publications

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“…For this reason the American College of Medical Genetics and the Canadian College of Medical Genetics have issued statements that UPD testing is only indicated when there is mosaicism for chromsomes 6, 7, 11, 14, and 15 . Results of UPD testing for other chromosomes do not yield clinically useful information . Additionally, the issue of increased risk for autosomal recessive disorders with UPD cannot be assessed through these studies.…”

Section: Resultsmentioning

confidence: 99%

Current knowledge of prenatal diagnosis of mosaic autosomal trisomy in amniocytes: karyotype/phenotype correlations

et al. 2015

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Genetic counseling for prenatal diagnosis of autosomal trisomy is complex because of the uncertainty of outcome, which is important for management decisions. Compilation of cases of prenatally diagnosed autosomal trisomies in amniocytes has been done previously in an attempt to elucidate the clinical phenotype of these pregnancies. It has been greater than a decade since these studies were completed. To update this work, we reviewed cases reported in the literature since that time. These cases are correlated with the prior reports to increase knowledge about outcomes and to hopefully improve the data available for genetic counseling. The risk of abnormal outcome can be summarized as: very high risk (>60%) for 47,+2/46; 47,+9/46; 47,+16/46; 47,+20/46; and 47,+22/46; high risk (40-59%) for 47,+5/46; 47,+14/46; and 47,+15/46; moderately high risk (20-39%) for 47,+7/46 47,+12/46; and 47,+17/46; moderate risk (up to 19%) for 47,+6/46 and 47,+8/46, and none were low risk. 47,+6/46 was originally indeterminate, 47,+7/46 was originally moderate risk, 47,+9/46 was originally high risk, and 47,+17/46 was originally low risk.

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Section: Resultsmentioning

confidence: 99%

Current knowledge of prenatal diagnosis of mosaic autosomal trisomy in amniocytes: karyotype/phenotype correlations

et al. 2015

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“…However, these three pregnancies also had high levels of trisomic cells (greater than or equal to 97%). The utility of UPD testing in the setting of CPM16 remains uncertain …”

Section: Discussionmentioning

confidence: 99%

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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“…Fluorescence in situ hybridization (FISH) was performed following standard procedures. For chromosomes 7, 11, 14, 15, and 16, the presence of a uniparental disomy (UPD) was tested by polymorphic short tandem repeat analysis using a PCR master mix (Promega (https://www.promega.com/products/pcr/endpoint-pcr/pcr-master-mix/?catNum=M7501)) following a standard protocol …”

Section: Methodsmentioning

confidence: 99%

Predicting fetoplacental chromosomal mosaicism during non‐invasive prenatal testing

et al. 2018

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CCMG guidelines: prenatal and postnatal diagnostic testing for uniparental disomy

Cited by 30 publications

References 36 publications

Current knowledge of prenatal diagnosis of mosaic autosomal trisomy in amniocytes: karyotype/phenotype correlations

Current knowledge of prenatal diagnosis of mosaic autosomal trisomy in amniocytes: karyotype/phenotype correlations

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

Predicting fetoplacental chromosomal mosaicism during non‐invasive prenatal testing

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