Department of Obstetrics and Gynaecology, All India Institute of Medical Sciences, Bibinagar, Hyderabad, India.
Fernandez Foundation, Hyderabad, India.
Neoreviews. 2024 Sep 1;25(9):e537-e550. doi: 10.1542/neo.25-9-e537.
Congenital anomalies contribute significantly to perinatal, neonatal, and infant morbidity and mortality. The causes of these anomalies vary, ranging from teratogen exposure to genetic disorders. A high suspicion for a genetic condition is especially important because a genetic diagnosis carries a risk of recurrence in future pregnancies. Various methods are available for genetic testing, and each plays a role in establishing a genetic diagnosis. This review summarizes a practical, systematic approach to a fetus or neonate with congenital anomalies.
先天性异常是围产儿、新生儿和婴儿发病率和死亡率的重要原因。这些异常的原因多种多样，从致畸剂暴露到遗传疾病都有。对遗传疾病的高度怀疑尤其重要，因为遗传诊断会增加未来妊娠中复发的风险。有多种方法可用于基因检测，每种方法在建立遗传诊断方面都发挥着作用。本文综述了对患有先天性异常的胎儿或新生儿的一种实用的、系统的方法。
