title: Transvaginal sonography-detection of findings suggestive of fetal chromosomal anomalies in the first and early second trimesters.
abstract: Over a 4-year period, 14 dyskaryotic fetuses were diagnosed by amniocentesis, performed after early detection of malformations using transvaginal sonography (TVS). These 14 dyskaryotic fetuses were detected out of 4878 sonographic screenings performed by TVS between 9 and 16 weeks' gestation. Twenty-eight per cent of the referrals were at high risk and 72 per cent were at low risk for fetal malformations. Two hundred and twenty-nine fetuses (4.7 per cent) of the screened population had 265 anomalies, 39 per cent of them being transient. In 7 of the 14 dyskaryotic fetuses (50 per cent), the sonographically detected anomalies were transient, being undetected by follow-up sonographic screenings at later gestational ages (greater than or equal to 18 weeks). Postponing the first sonographic scan aimed at malformation detection to a later gestational age may lead to transient anomalies and their associated dyskaryosis being missed.
authors.affiliation: Department of Obstetrics and Gynecology, Rambam Medical Center, Faculty of Medicine, Technion, Israel Institute of Technology, Haifa.
authors.forename: M
authors.initials: M
authors.lastname: Bronshtein
authors.forename: Z
authors.initials: Z
authors.lastname: Blumenfeld
mesh_terms: D000367:Age Factors; D000649:Amniocentesis; D002869:Chromosome Aberrations; D000013:Congenital Abnormalities / Q000000981:diagnostic imaging*; D005260:Female; D006801:Humans; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011262:Pregnancy Trimester, Second; D016216:Ultrasonography, Prenatal / Q000379:methods*; D014621:Vagina