title: De novo 7q deletion with a positive maternal serum triple test screening.
abstract: A 32-year-old woman at 17 weeks of gestation had a high possibility (1:82) of having a child with Down syndrome. Fetal chromosome according to amniocentesis revealed 46,XX,del(7)(q11.23q21.2). The fetus' chromosomal defect was not inherent because the chromosome analysis of the parents did not have any abnormal findings. We were regularly monitoring the pregnant woman by routine prenatal schedule and she had a normal spontaneous delivery. The baby showed a typical facial malformation, epicanthal fold, decreased muscle tone, and cardiac abnormalities. This is the first patient prenatally diagnosed with de novo 7q deletion by positive triple marker screening test. We consider the triple test, which is the most popular examination used to clarify the risk of chromosome abnormality in obstetrics, will be used not only for trisomy 21 and 18, but also for any other chromosome abnormalities.
authors.affiliation: Department of Obstetrics and Gynecology, The Catholic University of Korea, Seoul, Korea.
authors.forename: In Yang
authors.initials: IY
authors.lastname: Park
authors.forename: Yoon Sung
authors.initials: YS
authors.lastname: Jo
authors.forename: Jong Chul
authors.initials: JC
authors.lastname: Shin
authors.forename: In-Kyung
authors.initials: IK
authors.lastname: Sung
authors.forename: Myungshin
authors.initials: M
authors.lastname: Kim
mesh_terms: D000015:Abnormalities, Multiple; D000328:Adult; D002872:Chromosome Deletion; D002897:Chromosomes, Human, Pair 7; D019465:Craniofacial Abnormalities; D003937:Diagnosis, Differential; D004314:Down Syndrome / Q000097:blood / Q000175:diagnosis*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D011296:Prenatal Diagnosis