Patricia Maroño

Patricia Maroño

Marketing Assistant

World Birth Defects Day

World Birth Defects Day is an awareness day celebrated annually on March 3 with the aim of promoting prevention and research of these diseases.

What are congenital anomalies?

Congenital anomalies are disorders in the morphological, structural or functional development of an organ or system that are present at birth. According to the World Health Organization (WHO), 500,000 children are born annually with congenital defects in Europe and are the leading cause of prenatal and perinatal death. Early diagnosis is essential for the survival of these patients and in many cases determines their quality of life.


Approximately half of all children born with birth defects can be identified as having a genetic cause in 25% of cases (chromosomal alterations or gene mutations) or due to environmental causes in 15%.

  • Congenital anomalies of genetic origin

The genetic cause of congenital anomalies has been difficult to establish because most of them are characterised by diverse phenotypic manifestations, which in many cases are apparently unrelated and variable for affected individuals. Congenital anomalies of genetic origin may be due to chromosomal alterations, such as Down syndrome, or due to mutations in single genes, such as phenylketonuria or cystic fibrosis.

  • Congenital abnormalities due to infectious or environmental factors

Maternal infections during pregnancy are risk factors for the development of malformations in the foetus. Cytomegalovirus infection is associated with sensorineural hearing loss and intellectual disability in newborns and Zika virus infections can result in microcephaly. Furthermore, it is well established that folic acid deficiency during pregnancy increases the risk of having children with neural tube defects or that maternal exposure to certain medications, alcohol, tobacco, psychoactive drugs and radiation during pregnancy may increase the risk of congenital anomalies in the foetus or newborn.

Prevention and diagnosis

Although congenital anomalies occur during embryonic and/or fetal development, not all of them can be detected during the prenatal period and many are diagnosed in the neonatal period or during the first years of life. Their prevention and/or early diagnosis is essential for the correct management and treatment of patients. Preventive actions and/or diagnostic studies can be performed during the preconception, prenatal and/or neonatal stage (Figure 1).

1. Preconception Stage
2. Prenatal Stage
Perinatal stage
3. Perinatal Stage

Preventive measures and diagnostic studies in the preconceptional, prenatal and perinatal stages.

During the preconception period, genetic studies can be performed to identify carriers of certain syndromes or anomalies that can be transmitted to the offspring. For families with a previous child born with a congenital defect, a history of repeated miscarriages or consanguineous parents, appropriate genetic counseling is essential for the prevention of future congenital anomalies in the offspring.

In the prenatal stage it is essential that the woman acquires healthy lifestyle habits and that the established obstetric controls are carried out. Current ultrasound scans can detect or establish the suspicion of various congenital anomalies such as cardiac abnormalities, neural tube defects, bone dysplasias or Down syndrome. Prenatal genetic studies are performed on samples of amniotic fluid or chorionic microvilli to confirm the diagnosis when these or other fetal abnormalities are suspected by ultrasound. 

In the neonatal period physical examinations of newborns or the screening systems established in the National Health System allow early detection of many congenital alterations. In the event of a suspected congenital anomaly, the following can be performed genetic studies including the analysis of the genes associated with the suspected disease or syndrome can be performed. The performance of genetic studies makes it possible to confirm the diagnosis and to select the most suitable treatment and initiate it early. In addition, obtaining a genetic diagnosis makes it possible to evaluate the risk of the patient's family members to suffer from the disease and to initiate lifestyle changes and preventive treatments.

If you want more information you can contact us by writing an email to or by calling us at 613 031 849.

  1. Word Health Organization
  2. Neonatal screening program of the national health system. Evaluation report year 2019
  3. Rojas M, and Walker L. Congenital Malformations: General and Genetic Aspects. International Journal of Morphology. 2012 30(4), 1256-1265.
  4. Yinon Y, Farine D, Yudin MH. Screening, diagnosis, and management of cytomegalovirus infection in pregnancy. Obstet Gynecol Surv. 2010 Nov;65(11):736-43. 
  5. Cauchemez S, Besnard M, Bompard P, Dub T, Guillemette-Artur P, Eyrolle-Guignot D, Salje H, Van Kerkhove MD, Abadie V, Garel C, Fontanet A, Mallet HP. Association between Zika virus and microcephaly in French Polynesia, 2013-15: a retrospective study. Lancet. 2016 May 21;387(10033):2125-2132. 
  6. Bloom, H. J.; Shaw, G. M.; den Heijer, M. & Finnell, R. H. Neural tube defects and folate: case far from closed. Nat. Rev. Neurosci., 7(9):724-31, 2006. 
  7. Reardon S. Fast genetic sequencing saves newborn lives. Nature. 2014 Oct 2;514(7520):13-4. 
  8. Meng L, et al. Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management. JAMA Pediatr. 2017 Dec 4;171(12):e173438. 

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