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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.
R F Hume, and
A Drugan, and
A Reichler, and
J Lampinen, and
L S Martin, and
M P Johnson, and
M I Evans
November 2009,
Genetics in medicine : official journal of the American College of Medical Genetics,
R F Hume, and
A Drugan, and
A Reichler, and
J Lampinen, and
L S Martin, and
M P Johnson, and
M I Evans
December 2007,
Taiwanese journal of obstetrics & gynecology,
R F Hume, and
A Drugan, and
A Reichler, and
J Lampinen, and
L S Martin, and
M P Johnson, and
M I Evans
December 2007,
Taiwanese journal of obstetrics & gynecology,
R F Hume, and
A Drugan, and
A Reichler, and
J Lampinen, and
L S Martin, and
M P Johnson, and
M I Evans
April 2017,
The Indian journal of medical research,
R F Hume, and
A Drugan, and
A Reichler, and
J Lampinen, and
L S Martin, and
M P Johnson, and
M I Evans
February 2002,
The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians,
R F Hume, and
A Drugan, and
A Reichler, and
J Lampinen, and
L S Martin, and
M P Johnson, and
M I Evans
June 2000,
Hua xi yi ke da xue xue bao = Journal of West China University of Medical Sciences = Huaxi yike daxue xuebao,
R F Hume, and
A Drugan, and
A Reichler, and
J Lampinen, and
L S Martin, and
M P Johnson, and
M I Evans
November 1982,
American journal of human genetics,
R F Hume, and
A Drugan, and
A Reichler, and
J Lampinen, and
L S Martin, and
M P Johnson, and
M I Evans
May 1991,
Clinical genetics,
R F Hume, and
A Drugan, and
A Reichler, and
J Lampinen, and
L S Martin, and
M P Johnson, and
M I Evans
October 2011,
Clinical dysmorphology,
R F Hume, and
A Drugan, and
A Reichler, and
J Lampinen, and
L S Martin, and
M P Johnson, and
M I Evans
April 1992,
Neurology,
