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01-09-2019 | Chromosomal Abnormality | Maternal-Fetal Medicine

Subchromosomal anomalies in small for gestational-age fetuses and newborns

Authors: Ying Ma, Yan Pei, Chenghong Yin, Yuxin Jiang, Jingjing Wang, Xiaofei Li, Lin Li, Karl Oliver Kagan, Qingqing Wu

Published in: Archives of Gynecology and Obstetrics | Issue 3/2019

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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Title: Subchromosomal anomalies in small for gestational-age fetuses and newborns
Authors: Ying Ma
Yan Pei
Chenghong Yin
Yuxin Jiang
Jingjing Wang
Xiaofei Li
Lin Li
Karl Oliver Kagan
Qingqing Wu
Publication date: 01-09-2019
Publisher: Springer Berlin Heidelberg
Keywords: Chromosomal Abnormality
Pregnancy
Published in: Archives of Gynecology and Obstetrics / Issue 3/2019
Print ISSN: 0932-0067
Electronic ISSN: 1432-0711
DOI: https://doi.org/10.1007/s00404-019-05235-4

At a glance: The STEP trials

Springer Medicine

Subchromosomal anomalies in small for gestational-age fetuses and newborns

Abstract

Purpose

Methods

Results

Conclusions

At a glance: The STEP trials

Springer Medicine

Abstract

Purpose

Methods

Results

Conclusions

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