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Subchromosomal anomalies in small for gestational-age fetuses and newborns

  • Maternal-Fetal Medicine
  • Published:
Archives of Gynecology and Obstetrics Aims and scope Submit manuscript

Abstract

Purpose

To analyze copy number variants (CNVs) in subjects with small for gestational age (SGA) in China.

Methods

A total of 85 cases with estimated fetal weight (EFW) or birth weight below the 10th percentile for gestational age were recruited, including SGA associated with structural anomalies (Group A, n = 20) and isolated SGA (Group B, n = 65). In all cases, cytogenetic karyotyping and infection screening were normal. We examined DNA from fetuses (amniocentesis or cordocentesis) and newborns (cord blood) to detect CNVs using a single nucleotide polymorphism (SNP, n = 75) array or low-pass whole-genome sequencing (WGS, n = 10).

Results

Of 85 total cases, 3 (4%) carried pathogenic chromosomal abnormalities, including 2 cases with pathological CNVs and 1 case with upd(22)pat. In Group A, the mean gestational age at the time of diagnosis was 26.8 (SD 4.1) weeks and mean EFW/birth weight was 907.2 (SD 567.8) g. In Group B, the mean gestational age at the time of diagnosis was 34.1 (SD 5.8) weeks. Mean EFW/birth weight was 1879.2 (SD 714.5) g. The pathologic detection rate was 10% (2/20) in Group A and 2% (1/65) in Group B. It was inclined that the lower the EFW percentile, the more frequent the occurrence of CNVs.

Conclusions

Pathological subchromosomal anomalies were detected by CMA or low-pass WGS in 10% and 2% of SGA subjects with and without malformation, respectively. SGA fetuses with structural anomalies presented with higher pathological subchromosomal anomalies. The molecular genetic analysis is not recommended for isolated SGA pregnancies without other abnormal findings.

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Funding

This study was supported by the National Key Research and Development Program of China (Grant No. 2016YFC1000104 and 2016YFC1000101), Beijing Municipal Administration of Hospitals’ Ascent Plan (Grant No. DFL20151302), and National Science and Technology Infrastructure Program (Grant No. 2014BAI06B05).

Author information

Authors and Affiliations

  1. Department of Obstetrics, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing, 100026, China

    Ying Ma & Yan Pei

  2. Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing, 100026, China

    Chenghong Yin

  3. Department of Ultrasound, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 100730, China

    Yuxin Jiang

  4. Department of Ultrasound, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, 251 Yaojia Yuan Road, Chaoyang District, Beijing, 100026, China

    Jingjing Wang, Xiaofei Li & Qingqing Wu

  5. Central Laboratory, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing, 100026, China

    Lin Li

  6. Department of Women’S Health, University of Tuebingen, Tübingen, Germany

    Karl Oliver Kagan

Authors
  1. Ying Ma
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  2. Yan Pei
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  3. Chenghong Yin
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  4. Yuxin Jiang
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  7. Lin Li
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  9. Qingqing Wu
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Contributions

Protocol/project development and study design: YM, CY and QW; drafting of the study and revision for important intellectual content: KOK, YJ, CY and LL; data collection: YM, YP and XL; data analysis and interpretation: YM and JW; manuscript writing/editing: YM; KOK; substantial contributions to the study conception: QW; final approval of the version to be published: YM and QW.

Corresponding author

Correspondence to Qingqing Wu.

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The authors declare that they have no conflict of interest.

Ethical approval

This study was approved by the Ethics Committee of Beijing Obstetrics and Gynecology Hospital and was in accordance with the 1964 Helsinki Declaration and its later amendments.

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Each participant in this study signed an informed consent form.

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Ma, Y., Pei, Y., Yin, C. et al. Subchromosomal anomalies in small for gestational-age fetuses and newborns. Arch Gynecol Obstet 300, 633–639 (2019). https://doi.org/10.1007/s00404-019-05235-4

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  • DOI: https://doi.org/10.1007/s00404-019-05235-4

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