Familial diseases revealed by a fetal anomaly

Prenat Diagn. 2006 Dec;26(13):1224-34. doi: 10.1002/pd.1593.


Objectives: The recognition of a fetal anomaly can lead to the same diagnosis being made in one of the asymptomatic parents unaware of the problem. We analyzed cases in which the discovery of a fetal anomaly led to the discovery of a genetic familial disorder.

Methods: Families in which the recognition of a fetal anomaly led to the same diagnosis being made in one of the asymptomatic parents were included.

Results: Twenty couples were included in the study. The fetal anomalies were cleft lip and palate (4), cardiac anomalies (2), cerebral anomalies (1), bilateral club feet with polyhydramnios, akinesia or camptodactily (5), nuchal anomalies (2), micromelia (3), polydactyly (2), and limited elbow extension (1). Genetic counselling helped establish nine maternal diseases as follows: Steinert disease (3), spinal muscular atrophy (1), antecubital pterygium (1), DiGeorge (1), Wardenburg type II (1), Charge (1) and Greig syndromes (1). Eleven paternal diseases were discovered, which were Noonan-like syndrome (1), paternal cervical anomalies (1), Goldenhar syndrome (1), dominant autosomal arthrogryposis (1), osteogenesis imperfecta (3), tuberous sclerosis (1), dominant transposition of great vessels (1), Weyers acrofacial dysostosis (1), and autosomal dominant holoprosencephaly (1). Twelve couples continued with pregnancy and eight opted for termination of pregnancy.

Conclusion: The fetus is central in giving the first insight into a familial disorder. It can reveal familial diseases undiscovered in the parent and help understand the mode of transmission of an anomaly, mainly the autosomal dominant diseases with variable expressions.

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / genetics*
  • Family Health*
  • Female
  • Fetus / abnormalities*
  • Genetic Counseling
  • Genetic Predisposition to Disease*
  • Genetic Testing*
  • Gestational Age
  • Humans
  • Male
  • Prenatal Diagnosis