Molecular Diagnosis in Congenital Fetal Anomalies

Dear Colleagues,

Congenital anomalies, also known as birth defects or congenital malformations, are structural or functional anomalies that occur during the intrauterine life and can be identified prenatally at birth or sometimes later in infancy. Most health systems in high-income countries offer a comprehensive prenatal care bundle that includes screening for congenital abnormalities. These may result from genetic, infectious or environmental factors; however, it is often difficult to identify the exact cause. The most common congenital anomalies are cardiac defects, nervous system defects and trisomy 21; the latter can be predicted by a validated algorithm using a combination of sonographic findings, as well as maternal features. Some congenital anomalies can be prevented; vaccination, folic acid or iodine intake and adequate antenatal care are examples of prevention methods. Preconception screening including family history taking and genetic carrier screening is useful to identify those at risk for specific disorders or at risk of passing a disorder to their offspring. Many structural congenital anomalies may be corrected by pediatric surgery and early treatment may be beneficial to children with functional problems such as thalassemia. Prenatal diagnosis of severe defects, for example, acrania, may be achieved through ultrasound as early as 11-13 weeks of gestation. However, other defects, for example, hydrocephalus, may only be detected later in pregnancy and some may not be apparent until after birth, for example, hearing defects. Recent advances in the field of laboratory genetics, including molecular karyotype and Next-Generation Sequencing (NGS), has allowed for the detection of genetic defects associated with congenital malformations in an increasingly higher number of cases. Genome-wide analysis methods such as Whole Exome Sequencing (WES) and Whole Genome Sequencing (WGS), or Targeted Gene Panels, have made possible the simultaneous investigation of hundreds of candidate genes associated with phenotypes, as indicated by ultrasonographic findings. However, more research is needed to achieve a better classification of genetic variants detected from such methods, to evaluate the impact of environmental factors and understand the exact biological processes behind congenital defects.

Prof. Themistoklis I. Dagklis
Guest Editor

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• genetic syndromes
• fetal defects
• congenital infections
• teratogenic drugs
• vaccination in pregnancy
• assisted reproductive technology
• prenatal diagnosis