Advanced

Haemophilia A and B--two years experience of genetic counselling and prenatal diagnosis

Ljung, R LU ; Holmberg, Lars LU ; Gustavii, B LU ; Philip, J and Bang, J (1982) In Clinical Genetics 22(2). p.70-75
Abstract

Haemophilia A. Thirty-one pregnant women, obligate or probable carriers of haemophilia A, requested prenatal diagnosis if sex determination showed the foetus to be a male. In 11 of the 31 cases the foetuses were females; in two, the genetic variant of the disease rendered prenatal diagnosis impossible; and in two, the mother aborted spontaneously. From the remaining 16 male foetuses, blood samples were obtained in utero in the 17th to 20th week of gestation. Examination of the samples showed that 11 of the foetuses were unaffected and five affected. Haemophilia B. Three carriers of haemophilia B had male foetuses. Examination of foetal blood obtained in utero showed that these three foetuses were affected. Confirmation. All women with... (More)

Haemophilia A. Thirty-one pregnant women, obligate or probable carriers of haemophilia A, requested prenatal diagnosis if sex determination showed the foetus to be a male. In 11 of the 31 cases the foetuses were females; in two, the genetic variant of the disease rendered prenatal diagnosis impossible; and in two, the mother aborted spontaneously. From the remaining 16 male foetuses, blood samples were obtained in utero in the 17th to 20th week of gestation. Examination of the samples showed that 11 of the foetuses were unaffected and five affected. Haemophilia B. Three carriers of haemophilia B had male foetuses. Examination of foetal blood obtained in utero showed that these three foetuses were affected. Confirmation. All women with an affected foetus requested termination of pregnancy. In one of the cases of abortion, no blood was obtained for confirmative examination. In the remaining cases, the prenatal prediction was confirmed in the abortus or in the child after birth; three women are still pregnant.

(Less)
Please use this url to cite or link to this publication:
author
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
Factor IX, Factor VIII, Female, Fetoscopy, Genetic Counseling, Hemophilia A, Hemophilia B, Humans, Immunologic Techniques, Male, Pregnancy, Prenatal Diagnosis, Journal Article, Research Support, Non-U.S. Gov't
in
Clinical Genetics
volume
22
issue
2
pages
70 - 75
publisher
Wiley-Blackwell
external identifiers
  • Scopus:0019981829
ISSN
0009-9163
DOI
10.1111/j.1399-0004.1982.tb01415.x
language
English
LU publication?
yes
id
f35375fa-f954-424f-9e86-ccec58ecc283
date added to LUP
2016-10-27 14:28:56
date last changed
2016-10-30 04:51:03
@misc{f35375fa-f954-424f-9e86-ccec58ecc283,
  abstract     = {<p>Haemophilia A. Thirty-one pregnant women, obligate or probable carriers of haemophilia A, requested prenatal diagnosis if sex determination showed the foetus to be a male. In 11 of the 31 cases the foetuses were females; in two, the genetic variant of the disease rendered prenatal diagnosis impossible; and in two, the mother aborted spontaneously. From the remaining 16 male foetuses, blood samples were obtained in utero in the 17th to 20th week of gestation. Examination of the samples showed that 11 of the foetuses were unaffected and five affected. Haemophilia B. Three carriers of haemophilia B had male foetuses. Examination of foetal blood obtained in utero showed that these three foetuses were affected. Confirmation. All women with an affected foetus requested termination of pregnancy. In one of the cases of abortion, no blood was obtained for confirmative examination. In the remaining cases, the prenatal prediction was confirmed in the abortus or in the child after birth; three women are still pregnant.</p>},
  author       = {Ljung, R and Holmberg, Lars and Gustavii, B and Philip, J and Bang, J},
  issn         = {0009-9163},
  keyword      = {Factor IX,Factor VIII,Female,Fetoscopy,Genetic Counseling,Hemophilia A,Hemophilia B,Humans,Immunologic Techniques,Male,Pregnancy,Prenatal Diagnosis,Journal Article,Research Support, Non-U.S. Gov't},
  language     = {eng},
  number       = {2},
  pages        = {70--75},
  publisher    = {ARRAY(0xa4f66e0)},
  series       = {Clinical Genetics},
  title        = {Haemophilia A and B--two years experience of genetic counselling and prenatal diagnosis},
  url          = {http://dx.doi.org/10.1111/j.1399-0004.1982.tb01415.x},
  volume       = {22},
  year         = {1982},
}