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Prenatal diagnosis of de novo terminal deletion of chromosome 7q
Author(s) -
Chen ChihPing,
Chern SchuRern,
Chang TungYao,
Tzen ChinYuan,
Lee ChenChi,
Chen WenLin,
Lee MengShan,
Wang Wayseen
Publication year - 2003
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.602
Subject(s) - terminal (telecommunication) , prenatal diagnosis , genetics , chromosome 7 (human) , medicine , biology , chromosome , pregnancy , fetus , computer science , gene , computer network
Objectives To present the prenatal diagnosis and perinatal findings of a de novo terminal deletion of chromosome 7q. Case Amniocentesis was performed at 21‐weeks gestation owing to a positive result of maternal serum multiple‐marker screening. The 30‐year‐old woman, gravida 2, para 1, had a maternal serum multiple‐marker screening test at 18‐weeks gestation. The risk of Down syndrome was 1/11 calculated from the gestational age, maternal age, a maternal serum α‐fetoprotein level of 1.026 multiples of the median (MOM), and a maternal serum free β‐human chorionic gonadotrophin (hCG) level of 8.678 MoM. Cytogenetic analysis of the cultured amniotic fluid cells revealed a de novo terminal deletion of 7q, 46,XX,del(7)(q35). Ultrasonography showed intrauterine growth restriction, microcephaly, and tetralogy of Fallot. The pregnancy was terminated subsequently. Grossly, the placenta was normal. On autopsy, the proband additionally manifested a prominent forehead, hypertelorism, epicanthus, upslanting palpebral fissures, a flat and broad nasal bridge, micrognathia, large low‐set ears, overriding toes, and a normal brain. Radiography demonstrated a normal spine. Fluorescence in situ hybridization analysis demonstrated a 7q terminal deletion. Genetic marker analysis showed a maternally derived terminal deletion of chromosome 7(q35–qter). Conclusion Fetuses with a de novo 7q terminal deletion may be associated with a markedly elevated maternal serum hCG level and abnormal sonographic findings of intrauterine growth restriction, microcephaly, and congenital heart defects in the second trimester. Copyright © 2003 John Wiley & Sons, Ltd.