BCNatal - Barcelona Center for Maternal-Fetal and Neonatal Medicine, Hospital Clínic Barcelona and Hospital Sant Joan de Déu, Barcelona, Catalonia, Spain.
IDIBAPS, University of Barcelona, Fetal i+D Fetal Medicine Research, Barcelona, Catalonia, Spain.
Ultrasound Obstet Gynecol. 2023 Sep;62(3):361-368. doi: 10.1002/uog.26188.
To determine the frequency of genetic syndromes and childhood neurodevelopmental impairment in non-malformed infants born at term with severely low birth weight and no evidence of placental insufficiency.
This case series was constructed from the data of infants delivered at term between 2013 and 2018 with severely low birth weight, defined as birth weight more than 2.5 SD below the mean, with normal maternal and fetal Doppler (umbilical artery, fetal middle cerebral artery, cerebroplacental ratio and uterine artery) and no maternal hypertensive disorder during pregnancy or fetal structural anomaly on prenatal ultrasound examination. Clinical exome sequencing and copy number variation (CNV) analysis were performed using DNA extracted from the children's saliva. Cognitive and psychomotor development was evaluated using the Bayley Scales of Infant and Toddler Development, 3 edition or the Wechsler Intelligence Scale for Children, 5 edition tests, according to the child's age at testing.
Among the 36 405 infants born within the study period, 274 (0.75%) had a birth weight below -2.5 SD, of whom 98 met the inclusion criteria. Among the 63 families contacted, seven (11%) reported a postnatal diagnosis of a genetic syndrome and a further 18 consented to participate in the study. Median gestational age at delivery was 38.0 (interquartile range (IQR), 37.3-38.5) weeks and median birth weight was 2020 (IQR, 1908-2248) g. All 18 children showed a normal result on clinical exome sequencing and CNV analysis, but six (33%) obtained a low score on neurodevelopmental testing.
Non-malformed severely small term infants with no clinical or Doppler signs of placental insufficiency present a high rate of genetic syndromes and neurodevelopmental impairment during childhood. © 2023 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.
确定无结构畸形且足月出生、出生体重极低且无胎盘功能不全证据的婴儿中遗传综合征和儿童神经发育障碍的发生频率。
本病例系列研究的数据来自于 2013 年至 2018 年足月出生的严重出生体重极低的婴儿，定义为出生体重低于平均值 2.5 个标准差，且母体和胎儿多普勒（脐动脉、胎儿大脑中动脉、脑胎盘比和子宫动脉）正常，妊娠期间母体无高血压疾病，产前超声检查无胎儿结构异常。采用儿童唾液中提取的 DNA 进行临床外显子组测序和拷贝数变异（CNV）分析。根据测试时儿童的年龄，使用贝利婴幼儿发育量表第 3 版或韦氏儿童智力量表第 5 版测试评估认知和精神运动发育情况。
在所研究期间出生的 36405 名婴儿中，274 名（0.75%）的出生体重低于-2.5 SD，其中 98 名符合纳入标准。在联系的 63 个家庭中，有 7 个（11%）报告了出生后遗传综合征的诊断，另有 18 个家庭同意参与研究。中位分娩时的胎龄为 38.0（四分位距（IQR），37.3-38.5）周，中位出生体重为 2020（IQR，1908-2248）g。18 名儿童的临床外显子组测序和 CNV 分析均显示正常结果，但 6 名（33%）儿童神经发育测试得分较低。
无结构畸形且足月出生、无胎盘功能不全的临床或多普勒表现的严重小胎龄儿在儿童期存在较高的遗传综合征和神经发育障碍发生率。
