Open AccessChromosome Analysis of Fetuses in Risk Pregnancies
Author(s) -
Philip John,
Bang Jens,
Hahnemann Niels,
Mikkelsen Margareta,
Niebuhr Erik,
Rebbe Heinrich,
Weber Jan
Publication year - 1974
Publication title -
acta obstetricia et gynecologica scandinavica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.401
H-Index - 102
eISSN - 1600-0412
pISSN - 0001-6349
DOI - 10.3109/00016347409157184
Subject(s) - trisomy , fetus , abortion , medicine , chromosomal translocation , down syndrome , aborted fetus , obstetrics , pregnancy , gynecology , genetics , biology , psychiatry , gene
Abstract. In three centers in Copenhagen prenatal chromosome analysis has been carried out on 93 fetuses. Forty patients had earlier born a child with Down's syndrome. One had a 47, XY,+D trisomy fetus. Twenty were 40 years of age or more. Two fetuses in this group had 47, XY,+21 trisomy and one patient had a spontaneous abortion, which was found to have the same constitution. in four of five pregnancies with familial translocations the fetus was a translocation heterozygote. in five cases with relatives affected with Down's syndrome, in seven where the mother had earlier born a child with a chromosome anomaly not being +21 trisomy and in seven at risk of various inborn errors of metabolism, the fetuses were normal with regard to the chromosome constitution. Seven of nine cases, which were at risk of having an X‐linked disease, were males. Five of these were therepeutic aborted, one denied abortion and had an affected male child. One male fetus had a haemophilic father and the family did not want another carrier female.