Diagnosis of Sex Chromosome Disorders and Prenatal Diagnosis of Down Syndrome using
Abstract
Background : Thousands of infants are born each year with chromosomal abnormalities that severely impact physical and
mental development. Among common genetic disorders are Down syndrome (trisomy 21) and sex chromosomal disorders.
Objectives : Evaluation of guidelines used for prenatal diagnosis of Down syndrome (DS) as well as sex chromosomal
disorders including interphase Fluorescent In Situ Hyperidization (FISH) technique.
Methods : Enrolled cases were among those presenting to Genetics and Neonatology Units, Mansoura and Ain-Shams
University hospitals,(Egypt) during 2002 to 2004. These included: Groups 1 comprised fifty pregnant women presenting for
genetic counseling. They were subjected to complete history analysis, ultrasound examination in addition to triple screening test
(for alpha feto protein (AFP), human chorionic goandotrophin (HCG) and unconjugated esteriol (E2). Results were confirmed by
doing routine karyogram on cultured amniotic fluid. Groups 2 comprised suspected cases with sex chromosomal disorders
including neonates with ambiguous genitalia (64 cases) and adults with primary amenorrhea (69 cases) or infertility (38 cases).
They were subjected to a diagnostic workup including
Results : Among the pregnant women group, seven were found to be at a high risk of having DS fetuses including 3 cases with
a history of affected off-springs, 2 cases with age above 35 years, and 2 cases with high triple test. Only one case had positive
trisomy 21 on interphase FISH confirmed by karyogram on cultured amniotic cells. The other 6 ladies had normal FISH
confirmed by karyograms. Regarding the other group, 5 cases out of the 9 females were proved to be feminized males, one
proved mosaic turner, one proved mixed gonadal dysgenesis and 2 normal females. On the other hand one out of three males
were proved to be verilized female while the other one was a male with incomplete testicular feminization and the last one was a
male with infertility diagnosed as Klinefelter syndrome at the age of 26 years.
Conclusion : Interphase FISH is a rapid, accurate and very sensitive method in sex chromosom and autosomal abnormalities.
It adds to the diagnostic utility of routine cytogenetics and its use on interphase nuclei overcomes the difficulty of conventional
cytogenetics. It could be used in the prenatal diagnosis of DS in addition to ultrasonography, and triple test.
mental development. Among common genetic disorders are Down syndrome (trisomy 21) and sex chromosomal disorders.
Objectives : Evaluation of guidelines used for prenatal diagnosis of Down syndrome (DS) as well as sex chromosomal
disorders including interphase Fluorescent In Situ Hyperidization (FISH) technique.
Methods : Enrolled cases were among those presenting to Genetics and Neonatology Units, Mansoura and Ain-Shams
University hospitals,(Egypt) during 2002 to 2004. These included: Groups 1 comprised fifty pregnant women presenting for
genetic counseling. They were subjected to complete history analysis, ultrasound examination in addition to triple screening test
(for alpha feto protein (AFP), human chorionic goandotrophin (HCG) and unconjugated esteriol (E2). Results were confirmed by
doing routine karyogram on cultured amniotic fluid. Groups 2 comprised suspected cases with sex chromosomal disorders
including neonates with ambiguous genitalia (64 cases) and adults with primary amenorrhea (69 cases) or infertility (38 cases).
They were subjected to a diagnostic workup including
Results : Among the pregnant women group, seven were found to be at a high risk of having DS fetuses including 3 cases with
a history of affected off-springs, 2 cases with age above 35 years, and 2 cases with high triple test. Only one case had positive
trisomy 21 on interphase FISH confirmed by karyogram on cultured amniotic cells. The other 6 ladies had normal FISH
confirmed by karyograms. Regarding the other group, 5 cases out of the 9 females were proved to be feminized males, one
proved mosaic turner, one proved mixed gonadal dysgenesis and 2 normal females. On the other hand one out of three males
were proved to be verilized female while the other one was a male with incomplete testicular feminization and the last one was a
male with infertility diagnosed as Klinefelter syndrome at the age of 26 years.
Conclusion : Interphase FISH is a rapid, accurate and very sensitive method in sex chromosom and autosomal abnormalities.
It adds to the diagnostic utility of routine cytogenetics and its use on interphase nuclei overcomes the difficulty of conventional
cytogenetics. It could be used in the prenatal diagnosis of DS in addition to ultrasonography, and triple test.
Settin, A., Abu-Saif, I. S., El-Baz, R., Dowaidar, M., Abu-Al Kasim, R., & Shabana, S. (2007). Diagnosis of Sex Chromosome Disorders and Prenatal Diagnosis of Down Syndrome using. International Journal of Health Sciences, 1(2). Retrieved from https://ijhs.qu.edu.sa/index.php/journal/article/view/84
Authors who publish with this journal agree to the following terms:
- Authors retain copyright and grant the journal right of first publication with the work simultaneously licensed under a Creative Commons Attribution License that allows others to share the work with an acknowledgement of the work's authorship and initial publication in this journal.
- Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgement of its initial publication in this journal.
- Authors are permitted and encouraged to post their work online (e.g., in institutional repositories or on their website) prior to and during the submission process, as it can lead to productive exchanges, as well as earlier and greater citation of published work (See The Effect of Open Access).
Copyright and license info is not available