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Fetal calcifications are associated with chromosomal abnormalities.

Sahlin E, Sirotkina M, Marnerides A, Iwarsson E, Papadogiannakis N - PLoS ONE (2015)

Bottom Line: The most frequent aberrations among cases included trisomy 21 (33%), trisomy 18 (22%), and monosomy X (18%).When comparing cases and controls with chromosomal abnormalities, the cases had a significantly higher prevalence of malformations (95% vs. 77%, p=0.004).Analyzed the other way around, cases with malformations had a significantly higher proportion of chromosomal abnormalities compared with controls, (66% vs. 31%, p<0.001).

View Article: PubMed Central - PubMed

Affiliation: Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, CMM L8:02, Karolinska University Hospital, S-171 76, Stockholm, Sweden.

ABSTRACT

Objective: The biological importance of calcifications occasionally noted in fetal tissues (mainly liver) at autopsy or ultrasound is largely unexplored. Previous reports hint at an association to infection, circulatory compromise, malformations or chromosomal abnormalities. To identify factors associated with calcifications, we have performed a case-control study on the largest cohort of fetuses with calcifications described thus far.

Methods: One-hundred and fifty-one fetuses with calcifications and 302 matched controls were selected from the archives of the Department of Pathology, Karolinska University Hospital. Chromosome analysis by karyotyping or quantitative fluorescence-polymerase chain reaction was performed. Autopsy and placenta reports were scrutinized for presence of malformations and signs of infection.

Results: Calcifications were mainly located in the liver, but also in heart, bowel, and other tissues. Fetuses with calcifications showed a significantly higher proportion of chromosomal abnormalities than controls; 50% vs. 20% (p<0.001). The most frequent aberrations among cases included trisomy 21 (33%), trisomy 18 (22%), and monosomy X (18%). A similar distribution was seen among controls. When comparing cases and controls with chromosomal abnormalities, the cases had a significantly higher prevalence of malformations (95% vs. 77%, p=0.004). Analyzed the other way around, cases with malformations had a significantly higher proportion of chromosomal abnormalities compared with controls, (66% vs. 31%, p<0.001).

Conclusion: The presence of fetal calcifications is associated with high risk of chromosomal abnormality in combination with malformations. Identification of a calcification together with a malformation at autopsy more than doubles the probability of detecting a chromosomal abnormality, compared with identification of a malformation only. We propose that identification of a fetal tissue calcification at autopsy, and potentially also at ultrasound examination, should infer special attention towards co-existence of malformations, as this would be a strong indicator for a chromosomal abnormality.

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Prevalence of chromosomal abnormalities and malformations in fetal cases with tissue calcifications and controls.(A) Proportion of fetuses with malformations subdivided by the presence of chromosomal abnormalities or not. (B) Proportion of fetuses with chromosomal abnormalities subdivided by the presence of malformations or not. * = percentage of the total number of cases or controls. Percentage without an asterisk refers to the number of subjects in the preceding subdivision.
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pone.0123343.g004: Prevalence of chromosomal abnormalities and malformations in fetal cases with tissue calcifications and controls.(A) Proportion of fetuses with malformations subdivided by the presence of chromosomal abnormalities or not. (B) Proportion of fetuses with chromosomal abnormalities subdivided by the presence of malformations or not. * = percentage of the total number of cases or controls. Percentage without an asterisk refers to the number of subjects in the preceding subdivision.

Mentions: The prevalence of fetal malformations was significantly higher in cases than in controls (72% vs. 50%, p<0.001). When divided into groups based on the presence of chromosomal abnormalities or not, the difference in malformation prevalence was only seen between cases and controls with chromosomal abnormalities (95% vs. 77%, p = 0.004). The corresponding numbers in cases and controls without chromosomal abnormalities were 49% vs. 43% (p = 0.446). The distribution of malformation prevalence is summarized in Fig 4A. When analyzed the other way around, i.e. the proportion of chromosomal abnormalities in cases and controls with or without malformations, cases with malformations had a significantly higher proportion of chromosomal abnormalities compared with controls, (66% vs. 31%, p<0.001). Cases and controls without malformations showed equal proportions of chromosomal abnormalities (Fig 4B). The proportion of malformations in subgroups is displayed in Table 1.


Fetal calcifications are associated with chromosomal abnormalities.

Sahlin E, Sirotkina M, Marnerides A, Iwarsson E, Papadogiannakis N - PLoS ONE (2015)

Prevalence of chromosomal abnormalities and malformations in fetal cases with tissue calcifications and controls.(A) Proportion of fetuses with malformations subdivided by the presence of chromosomal abnormalities or not. (B) Proportion of fetuses with chromosomal abnormalities subdivided by the presence of malformations or not. * = percentage of the total number of cases or controls. Percentage without an asterisk refers to the number of subjects in the preceding subdivision.
© Copyright Policy
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4414523&req=5

pone.0123343.g004: Prevalence of chromosomal abnormalities and malformations in fetal cases with tissue calcifications and controls.(A) Proportion of fetuses with malformations subdivided by the presence of chromosomal abnormalities or not. (B) Proportion of fetuses with chromosomal abnormalities subdivided by the presence of malformations or not. * = percentage of the total number of cases or controls. Percentage without an asterisk refers to the number of subjects in the preceding subdivision.
Mentions: The prevalence of fetal malformations was significantly higher in cases than in controls (72% vs. 50%, p<0.001). When divided into groups based on the presence of chromosomal abnormalities or not, the difference in malformation prevalence was only seen between cases and controls with chromosomal abnormalities (95% vs. 77%, p = 0.004). The corresponding numbers in cases and controls without chromosomal abnormalities were 49% vs. 43% (p = 0.446). The distribution of malformation prevalence is summarized in Fig 4A. When analyzed the other way around, i.e. the proportion of chromosomal abnormalities in cases and controls with or without malformations, cases with malformations had a significantly higher proportion of chromosomal abnormalities compared with controls, (66% vs. 31%, p<0.001). Cases and controls without malformations showed equal proportions of chromosomal abnormalities (Fig 4B). The proportion of malformations in subgroups is displayed in Table 1.

Bottom Line: The most frequent aberrations among cases included trisomy 21 (33%), trisomy 18 (22%), and monosomy X (18%).When comparing cases and controls with chromosomal abnormalities, the cases had a significantly higher prevalence of malformations (95% vs. 77%, p=0.004).Analyzed the other way around, cases with malformations had a significantly higher proportion of chromosomal abnormalities compared with controls, (66% vs. 31%, p<0.001).

View Article: PubMed Central - PubMed

Affiliation: Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, CMM L8:02, Karolinska University Hospital, S-171 76, Stockholm, Sweden.

ABSTRACT

Objective: The biological importance of calcifications occasionally noted in fetal tissues (mainly liver) at autopsy or ultrasound is largely unexplored. Previous reports hint at an association to infection, circulatory compromise, malformations or chromosomal abnormalities. To identify factors associated with calcifications, we have performed a case-control study on the largest cohort of fetuses with calcifications described thus far.

Methods: One-hundred and fifty-one fetuses with calcifications and 302 matched controls were selected from the archives of the Department of Pathology, Karolinska University Hospital. Chromosome analysis by karyotyping or quantitative fluorescence-polymerase chain reaction was performed. Autopsy and placenta reports were scrutinized for presence of malformations and signs of infection.

Results: Calcifications were mainly located in the liver, but also in heart, bowel, and other tissues. Fetuses with calcifications showed a significantly higher proportion of chromosomal abnormalities than controls; 50% vs. 20% (p<0.001). The most frequent aberrations among cases included trisomy 21 (33%), trisomy 18 (22%), and monosomy X (18%). A similar distribution was seen among controls. When comparing cases and controls with chromosomal abnormalities, the cases had a significantly higher prevalence of malformations (95% vs. 77%, p=0.004). Analyzed the other way around, cases with malformations had a significantly higher proportion of chromosomal abnormalities compared with controls, (66% vs. 31%, p<0.001).

Conclusion: The presence of fetal calcifications is associated with high risk of chromosomal abnormality in combination with malformations. Identification of a calcification together with a malformation at autopsy more than doubles the probability of detecting a chromosomal abnormality, compared with identification of a malformation only. We propose that identification of a fetal tissue calcification at autopsy, and potentially also at ultrasound examination, should infer special attention towards co-existence of malformations, as this would be a strong indicator for a chromosomal abnormality.

Show MeSH
Related in: MedlinePlus