title: Aneuploidy among prenatally detected neural tube defects.
abstract: We have reported previously a 10% aneuploidy detection rate among 39 cases of fetal neural tube defects (NTD). Subsequently we amassed an additional experience of over 17,000 prenatal diagnosis cases over a 5-year period. During this period 106 cases of NTDs were identified; 44 with anencephaly, 62 with open spina bifida. The average maternal age of this population with NTDs was 29 years (15-40); 6 patients declined amniocentesis. Six of 100 cytogenetic studies were aneuploid; one anencephalic fetus had inherited a maternal marker chromosome, and 5 NTD cases had trisomy 18. The average maternal age of the aneuploid cases was 31 (19-40); 3 were 35 years or older. Four of 5 trisomy 18 cases had multiple congenital anomalies (MCA). The overall aneuploidy detection rate in our cohort was 5-6%, while aneuploidy occurred in 2% of the isolated NTD cases, and 24% of the MCA cases. Combining the earlier experience, 4/39 aneuploidy (2 trisomy 18, 4p+, del 13q) yields an aneuploidy detection frequency of 10/145 (7%), of which most (7/10) had trisomy 18. These data support fetal karyotyping for accurate diagnosis, prognosis, and recurrence-risk counseling.
authors.affiliation: Department of Ob/Gyn, Hutzel Hospital/Wayne State University, Detroit, MI 48201, USA.
authors.forename: R F
authors.initials: RF
authors.lastname: Hume
authors.forename: A
authors.initials: A
authors.lastname: Drugan
authors.forename: A
authors.initials: A
authors.lastname: Reichler
authors.forename: J
authors.initials: J
authors.lastname: Lampinen
authors.forename: L S
authors.initials: LS
authors.lastname: Martin
authors.forename: M P
authors.initials: MP
authors.lastname: Johnson
authors.forename: M I
authors.initials: MI
authors.lastname: Evans
mesh_terms: D000293:Adolescent; D000328:Adult; D000757:Anencephaly / Q000175:diagnosis; D000782:Aneuploidy; D002887:Chromosomes, Human, Pair 18 / Q000648:ultrastructure; D005260:Female; D006801:Humans; D007621:Karyotyping; D009436:Neural Tube Defects / Q000175:diagnosis*; D011296:Prenatal Diagnosis; D016137:Spina Bifida Cystica / Q000175:diagnosis; D014314:Trisomy