Park Su-Jung, Lee Narae, Jeong Seong-Hee, Jeong Mun-Hui, Byun Shin-Yun, Park Kyung-Hee
Department of Pediatrics, Pusan National University Hospital, Pusan National University School of Medicine, Busan 49241, Korea.
Department of Pediatrics, Pusan National University Children's Hospital, Pusan National University School of Medicine, Yangsan 50612, Korea.
J Clin Med. 2022 Jun 27;11(13):3710. doi: 10.3390/jcm11133710.
The etiology of small for gestational age (SGA) is multifactorial and includes maternal/uterine-placental factors, fetal epigenetics, and genetic abnormalities. We evaluated the genetic causes and diagnostic effectiveness of targeted-panel sequencing (TES) or whole-exome sequencing (WES) in SGA infants without a known cause.
A prospective study was conducted on newborn infants born with a birth weight of less than the 10th percentile for gestational age between January 2019 and December 2020 at the Pusan National University Hospital. We excluded infants with known causes of SGA, including maternal causes or major congenital anomalies or infections. SGA infants without a known etiology underwent genetic evaluation, including karyotyping, chromosomal microarray (CMA), and TES/WES.
During the study period, 82 SGA infants were born at our hospital. Among them, 61 patients were excluded. A total of 21 patients underwent karyotyping and chromosomal CMA, and aberrations were detected in two patients, including one chromosomal anomaly and one copy number variation. Nineteen patients with normal karyotype and CMA findings underwent TES or WES, which identified three pathogenic or likely pathogenic single-gene mutations, namely , , and .
In SGA infants without known risk factors, the prevalence of genetic causes was 22% (5/21). The diagnostic yield of TES or WES in SGA infants with normal karyotype and CMA was 15.7% (3/19). TES or WES was quite helpful in identifying the etiology in SGA infants without a known cause.
小于胎龄儿（SGA）的病因是多因素的，包括母体/子宫-胎盘因素、胎儿表观遗传学和基因异常。我们评估了靶向基因panel测序（TES）或全外显子组测序（WES）在病因不明的SGA婴儿中的遗传病因及诊断有效性。
对2019年1月至2020年12月在釜山国立大学医院出生、出生体重低于胎龄第10百分位数的新生儿进行了一项前瞻性研究。我们排除了已知SGA病因的婴儿，包括母体病因或重大先天性畸形或感染。病因不明的SGA婴儿接受了遗传评估，包括核型分析、染色体微阵列（CMA）和TES/WES。
在研究期间，我院共出生82例SGA婴儿。其中，61例患者被排除。共有21例患者进行了核型分析和染色体CMA，在2例患者中检测到异常，包括1例染色体异常和1例拷贝数变异。19例核型和CMA结果正常的患者接受了TES或WES，发现了3个致病或可能致病的单基因突变，即 、 和 。
在无已知危险因素的SGA婴儿中，遗传病因的发生率为22%（5/21）。核型和CMA正常的SGA婴儿中，TES或WES的诊断率为15.7%（3/19）。TES或WES对查明病因不明的SGA婴儿的病因非常有帮助。
