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THE LIKELIHOOD OF CONGENITAL DISEASE
Author(s) -
Pitt David
Publication year - 1969
Publication title -
medical journal of australia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.904
H-Index - 131
eISSN - 1326-5377
pISSN - 0025-729X
DOI - 10.5694/j.1326-5377.1969.tb107352.x
Subject(s) - pregnancy , medicine , mentally retarded , pediatrics , rubella , family history , hydrocephalus , mental deficiency , obstetrics , psychiatry , psychology , genetics , measles , developmental psychology , surgery , biology , immunology , vaccination
About one baby in every 30 is born with a major defect. None of these major defects can be predicted with certainty in the first trimester. In later pregnancy, mongolism, hydrocephalus, anencephalus, and some skeletal deformities can be diagnosed. Other conditions may be suspected in the following circumstances. ( a ) High risk (about one in two): rubella in the first month of pregnancy; parent affected by dominant genetic conditions; incestuous unions; maternal phenylketonuria (untreated); maternal mongolism; mentally retarded parents with other retarded siblings or children (“cultural‐familial”); maternal carrier of X‐linked disease bearing a male fœtus. ( b ) Medium risk (about one in three to one in 10): rubella in the second and third month of pregnancy; heavy irradiation in the first trimester of pregnancy; thalidomide ingestion; previous child affected by recessive genetic conditions; transmissible translocation mongolism; consanguineous parents with a mentally retarded child; “undifferentiated” mental defect in a parent (family history otherwise negative). (c) Low risk (less than one in 10): previous malformed infant (non‐genetic); previous mentally retarded child (undifferentiated).