title: Microcephaly: genetic counselling and antenatal diagnosis after the birth of an affected child.
abstract: We describe the clinical and genetic details of a series of microcephalic patients who were referred to the Genetic Counselling Service for the West of Scotland. There were 29 isolated cases of microcephaly and 9 families with recurrent microcephaly. The sib recurrence risk was 19%, which reflects the high incidence of autosomal recessive microcephaly in this series. There was evidence for several varieties of recessive microcephaly. The most frequent, affecting 5 sib pairs, was associated with spastic quadriplegia, seizures, and profound mental handicap. In 15 families with one microcephalic child, prenatal diagnosis by serial ultrasound scans was undertaken in 21 subsequent pregnancies. Four recurrences of microcephaly were detected in the third trimester and one recurrence was missed because no scans were performed after 24 wk gestation when the ultrasound measurements indicated satisfactory head growth. The main reason for late diagnosis of affected fetuses was that head growth did not slow appreciably until the last trimester. The high recurrence risk in this prospective series emphasizes the contribution of autosomal recessive inheritance of microcephaly amongst patients of our Genetic Counselling Service.
authors.forename: J L
authors.initials: JL
authors.lastname: Tolmie
authors.forename: M
authors.initials: M
authors.lastname: McNay
authors.forename: J B
authors.initials: JB
authors.lastname: Stephenson
authors.forename: D
authors.initials: D
authors.lastname: Doyle
authors.forename: J M
authors.initials: JM
authors.lastname: Connor
mesh_terms: D005260:Female; D005808:Genes, Recessive; D005817:Genetic Counseling; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008831:Microcephaly / Q000145:classification / Q000175:diagnosis / Q000235:genetics*; D009128:Muscle Spasticity / Q000209:etiology; D011247:Pregnancy; D011263:Pregnancy Trimester, Third; D011296:Prenatal Diagnosis; D012306:Risk; D012640:Seizures / Q000209:etiology; D014463:Ultrasonography