Down syndrome and male fertility: PCR‐derived fingerprinting, serological and andrological investigations

Zühlke, Christine; Thies, Ulrike; Braulke, I.; Reis, André; Schirren, Carl Georg

doi:10.1111/j.1399-0004.1994.tb04171.x

Cited by 44 publications

(20 citation statements)

References 11 publications

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“…21 If provided with appropriate levels of guidance and support, a proportion of affected people lead creative, rewarding, and quite independent lives. 22 Males with Down syndrome are almost always infertile, with only two confirmed reports of paternity in non-mosaic individuals, 23,24 but there are more numerous accounts of successful pregnancies in females. For example, 25 of 29 conceptions in females with non-mosaic Down syndrome reported between 1949 and 1982 resulted in live-born deliveries; 36% of the live-borns had Down syndrome, 16% had variable physical deformities, and in 48% the offspring were apparently without disability.…”

Section: Epidemiologymentioning

confidence: 96%

Clinical, social, and ethical implications of changing life expectancy in Down syndrome

Bittles

Glasson

2004

Develop Med Child Neuro

309

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Between 1 and 4% of the populations of developed nations are diagnosed with learning disability*. 1,2 In Australia, an estimated 1.9% of the population exhibit learning disability either as a primary disability or as a secondary condition, and approximately half of these people require continuing support in daily living, including mobility, self-care, and socialization. 3 After improvements in basic public health measures, life expectancy in most developed nations increased over the course of the 20th century, and this trend included people with learning disability. Thus, by the end of that century, the survival estimates for people with mild learning disability living in developed countries was 70 years, and nearly 60 years of age for those with severe learning disability. 4,5 The estimates of increased life expectancy mirror improved access to medical treatment for those with learning disability, and a shift in public attitude during the past 20 to 30 years that has resulted in better care within the community. The increased availability of more appropriate medication, surgical intervention, and overall health care management strategies have led to a positive effect on general health and have decreased mortality. More recently, national and international agencies have strongly argued for further improvements in health care opportunities for individuals with disabilities, and for the narrowing of health differentials between people with learning disability and the general population. 6-9 However, this is a complex issue with challenging social, economic, and ethical ramifications, because many people with learning disability are affected by major adverse health issues throughout their lives. As a result, increased survival is not only associated with a longer period of care, but is also related to a longer period of more specialized needs. Here we discuss these issues with specific reference to the circumstances of people with Down syndrome, although it should be emphasized that to a large degree they equally apply to a wide range of inherited disorders resulting in learning disability. EpidemiologyDown syndrome is the most commonly inherited form of learning disability, with an incidence rate of 1 out of every 650 to 1000 live births, 10-12 and in developed countries it accounts for 12 to 15% of the population of those with learning disability. 4,13,14 The actual number of Down syndrome conceptions is unknown, but occurrence of the disorder increases significantly with advancing maternal age, 15 and there is some evidence that advanced paternal age might also be involved. 16 There is a high rate of spontaneous prenatal loss and, for example, in one study 43% of Down syndrome pregnancies detected by chorionic villus sampling at 10 weeks gestation failed to reach term. 17 The trisomy 21 karyotype is present in 93 to 95% of people with Down syndrome; a further 3 to 4% exhibit translocation anomalies, and 1 to 3% are mosaic. 18-20 Down syndrome is usually associated with moderate to severe levels of learning disab...

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Section: Epidemiologymentioning

confidence: 96%

Clinical, social, and ethical implications of changing life expectancy in Down syndrome

Bittles

Glasson

2004

Develop Med Child Neuro

309

View full text Add to dashboard Cite

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“…To date, four live births have been reported from men with Down syndrome [8,[10][11][12]. However, in marked contrast to the experience in women, all four children born to men with trisomy 21 have been normal.…”

Section: Introductionmentioning

confidence: 79%

“…Three conceptions were spontaneous [8,10,11] while one case required intracytoplasmic sperm injection (ICSI) of round-headed sperm obtained by testicular aspiration from a globoazoospermic man mosaic for trisomy 21 [12]. Of the four reported live births, one was in a man with mosaicism [12] and three in non-mosaic men [8,10,11]. In men who are mosaic for trisomy 21, i.e., having two cell lines (46, XY and 47, XY+21), it is hard to determine which cell line predominates within seminiferous tubules and primarily impacts spermatogenesis.…”

Section: Introductionmentioning

confidence: 99%

Birth of a healthy child after preimplantation genetic screening of embryos from sperm of a man with non-mosaic Down syndrome

Aghajanova

Popwell

Chetkowski

et al. 2015

J Assist Reprod Genet

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Purpose The purpose of this study is to present a case of healthy infant born after intracytoplasmic sperm injection-in vitro fertilization (ICSI-IVF) with preimplantation genetic screening (PGS) using sperm from a man with non-mosaic trisomy 21 and a literature review. Materials and methods A 26-year-old euploid female and 29-year-old male with non-mosaic trisomy 21 and male factor undergoing ICSI-IVF treatment for primary infertility with embryo biopsy for PGS with comprehensive chromosomal screening (CCS) presented to the Infertility Clinic at Highland Hospital, the Alameda County Medical Center, California, with 6-year history of primary infertility. The outcome measure is a live birth of a healthy child and ploidy status of biopsied blastocysts. Results Egg retrieval yielded 33 oocytes, 29 of which underwent ICSI with ejaculated sperm. Twenty-eight 2PN zygotes were cultured, and 13 blastocysts underwent trophectoderm biopsy and vitrification 5 or 6 days after retrieval. CCS analysis revealed that 12 out of 13 (92 %) of blastocysts were euploid and one was a complex abnormal mosaic. Transfer of two grade I hatching blastocysts resulted in a singleton pregnancy with normal prenatal genetic screening and delivery of a healthy male infant at 41 weeks via primary cesarean section for non-reassuring fetal status. Conclusion This is the first report of a live birth of a healthy child after ICSI-IVF with PGS using ejaculated sperm from a man with non-mosaic trisomy 21 and male factor infertility.

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“…Chromosomal trisomy has been reported to occur in at least 4% of all pregnancies (Zühlke et al, 1994). Numerical chromosomal abnormalities, especially trisomies of chromosomes 13, 18, 21, etc., are reported causes of pregnancy loss, neonatal deaths, and infertility.…”

Section: Discussionmentioning

confidence: 99%

“…Pradhan et al (2006) reported a case of a nonmosaic Down syndrome male who fathered a chromosomally normal child. Zühlke et al (1994) described a male with trisomy 21 who fathered a chromosomally normal female baby.…”

Section: Discussionmentioning

confidence: 99%

Inheritance of balanced translocation t(17; 22) from a Down syndrome mother to a phenotypically normal daughter

et al. 2015

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ABSTRACT. We report that a 30-year-old woman with mental retardation was referred for prenatal diagnoses during pregnancy. An ultrasound scan showed that the heart structure and function of the fetus were normal. Cytogenetic analysis showed that the female karyotype was 47,XX, t(17; 22) (q21; q11), +21. The woman's husband had a normal male karyotype and was phenotypically normal. During this first pregnancy, an amniocentesis, which was done at 19 weeks, revealed that the fetal karyotype was 46,XX, t(17; 22) (q21; q11). Fluorescence in situ hybridization testing of amniotic fluid gave a normal result for chromosome 21. The child was a phenotypically normal female baby.

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Down syndrome and male fertility: PCR‐derived fingerprinting, serological and andrological investigations

Cited by 44 publications

References 11 publications

Clinical, social, and ethical implications of changing life expectancy in Down syndrome

Clinical, social, and ethical implications of changing life expectancy in Down syndrome

Birth of a healthy child after preimplantation genetic screening of embryos from sperm of a man with non-mosaic Down syndrome

Inheritance of balanced translocation t(17; 22) from a Down syndrome mother to a phenotypically normal daughter

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