Stillborn Infants: Associated Malformations.

Background: Stillbirth, defined as death of a fetus in utero after 20 weeks of gestation, occurs in 1 to 2% of pregnancies in the United States. Many of these stillborn infants have associated malformations, including chromosome abnormalities, neural tube defects, and malformation syndromes. Other causes are abnormalities of the placenta and maternal conditions, such as pre-eclampsia and obesity.

Iniencephaly.

Background: Iniencephaly is a severe developmental abnormality of the craniovertebral junction in which the head is retroflexed dramatically. Anatomic studies have identified striking changes in the vertebrae and skull: marked lordosis of the cervical vertebrae, duplicated cervical vertebrae, irregularly fused cervical vertebrae, a widened foramen magnum and a small posterior fossa. The affected infant appears to have no neck, as the skin of the face is continuous with the chest and the skin of the posterior scalp is continuous with the skin of the back.

The Active Malformations Surveillance Program, Boston in 1972-2012: Methodology and demographic characteristics.

Background: Malformations surveillance programs have been carried out in consecutive populations of newborn infants at single hospitals, as well as in several hospitals in defined populations. A surveillance program begins with the review of the findings recorded by the examining pediatrician in each infant's medical record. The results of diagnostic tests, consultations, and imaging studies are obtained, also, from that infant's medical record.

Causes of Congenital Malformations.

Background: Many different causes of malformations have been established. The surveillance of a consecutive population of births, including stillbirths and elective terminations of pregnancy because of fetal anomalies, can identify each infant with malformations and determine the frequency of the apparent etiologies. This report is a sequel to the first such analysis in the first 10 years of this Active Malformations Surveillance Program (Nelson and Holmes, ).

Malformations among 289,365 Births Attributed to Mutations with Autosomal Dominant and Recessive and X-Linked Inheritance.

Background: The number of malformations attributed to mutations with autosomal or X-linked patterns of inheritance has increased steadily since the cataloging began in the 1960s. These diagnoses have been based primarily on the pattern of phenotypic features among close relatives. A malformations surveillance program conducted in consecutive pregnancies can identify both known and "new" hereditary disorders.