Eur J Pediatr Surg 2021; 31(06): 467
DOI: 10.1055/s-0041-1739459

Genetic Counseling for Birth Defects

Heiko M. Reutter
1   Division of Neonatology and Pediatric Intensive Care, Department of Pediatrics and Adolescent Medicine, University Hospital Erlangen, Erlangen, Germany
› Author Affiliations

Major birth defects are precisely defined malformations representing structural defects of the body or/and organs that affect viability and quality of life or require medical intervention. Over the past 50 years, medicine has made immense progress in the treatment of major birth defects. Ideally, the treatment begins prenatally through sonographic diagnosis and, if necessary, intervention on the fetus. Delivery then takes place at designated centers where, in addition to complex postnatal corrective surgery, postnatal stabilization is performed by means of complex intensive medical measures, for example, extracorporeal membrane oxygenation, kidney replacement procedures (dialysis), and postnatal care by an interdisciplinary team.[1]

Separately, in Europe, under the umbrella of European Commission 2017, the first European Reference Networks have formed, dedicated, among others, to the treatment of “rare and complex birth defects.” These networks are supported by EURORDIS, a nongovernmental patient-driven alliance of patient organizations represented by 970 patient organizations from 74 countries.[2] In parallel with this multidimensional medical progress in the surgical and postoperative treatment of birth defects, accompanying fields of medicine have also developed immensely. These include, among others, the field of human genetics.[3] With the help of state-of-the-art high-throughput genotyping technologies such as genome-wide molecular array-based karyotyping and exome analysis, modern medical genetics has entered the field of birth defect diagnostics. These modern diagnostic techniques allow extensive testing as part of normal routine diagnostics even in so-called nuclear families, that is, families in which only one person is affected by a birth defect.

Furthermore, systematic research for rare major birth defects suggests that mutational de novo events comprising single nucleotides and large copy number variations confer to the expression of birth defects to a larger extent than previously assumed allowing up to 20% detection rates depending on the respective defects.[4] While an inconspicuous genetic examination cannot exclude a genetic cause, it significantly reduces the probability of a monogenic highly penetrant hereditary cause of the child's birth defect and moves the origin of the defect more toward the circle of multifactorial diseases with a rather low risk of recurrence.

Besides the opportunity for genetic counseling and testing for parents with an affected child, the medical need for genetic counseling emerges more and more for affected adults themselves. Accompanied by better survival rates and immensely improved overall outcomes, most affected grow up “healthy/healthier,” allowing them to life a normal adult life and start a family themselves. These adults and their partners, by nature, want to know their own recurrence risk for an affected offspring and seek genetic counseling.

Publication History

Publication Date:
15 December 2021 (online)

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