Congenital Abnormalities: Prenatal Diagnosis and Screening

  • Christopher Patrick BarnettEmail author


Congenital malformations are a major cause of mortality and morbidity in the prenatal, perinatal, and neonatal periods. Three percent of newborns have a single major malformation and 0.7 % of newborns have multiple abnormalities. The majority of pregnancies in which major congenital abnormalities occur result in miscarriage, spontaneous fetal loss, or termination of pregnancy. With significant advances in imaging modalities and genetic testing capability, the identification and precise diagnosis of syndromic congenital abnormalities is occurring increasingly. Significant resource allocation and a multidisciplinary approach to fetal autopsy that involves pathologists, radiologists, clinical geneticists, microbiologists, and obstetricians have led to a high rate of case resolution for families experiencing the trauma of pregnancy loss or termination.


Congenital abnormalities Noninvasive prenatal testing (NIPT) Single-gene disorders Autosomal dominant Autosomal recessive X-linked Chromosome abnormalities Triploidy Trisomy Translocation Inversion Deletion Sex chromosome Multifactorial disorders Environmental teratogens Maternal disorders Drugs Infection Ultrasound Chorionic villus sampling (CVS) Amniocentesis Fetal blood sampling DNA analysis Fetal autopsy Artifactual abnormalities Early amnion rupture sequence (EARS)/amniotic band sequence (ABS) 


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© Springer International Publishing 2015

Authors and Affiliations

  1. 1.Paediatric and Reproductive Genetics UnitWomen’s and Children’s HospitalNorth AdelaideAustralia

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