Complications of Infertility Treatment

choi

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My comment:
(1) The gynecology/obstetrics textbooks of early 1980s (published in US, the only things Taiwan's medical schools used) indicated that one out of ten couples were childless, by choice or by medical problems. The medical profession thought at the time that it is the norm. Then, I read

Sharon Jayson, Nearly 1 in 5 older women are going childless. USA Today, June 25, 2010.
http://www.usatoday.com/news/health/2010-06-25-1Achildless25_ST_N.htm
("More women today are childless: Nearly one in five end their childbearing years without having a baby, compared with one in 10 just 30 years ago. That's true for all racial and ethnic groups and for most education levels, according to a Pew Research Center analysis of Census data for women ages 40 to 44.")
(2) Women weep when they suffer miscarriage. Nonetheless, I am unmoved, fully aware that most miscarriages are caused by chromosome defects.
(3) Infertility treatment is a god-send. It turns out that there are reasons why couples are infertile. The take-home lesson is that those couples should receive extensive tests (genetic and clinical), which Taiwan did. (Acknowledgment: I left Taiwan in 1984, and genetic tests were not done prior to that.) See the article below.


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Sylvia Pagán Westphal, The infertility dilemma; A popular treatment comes with a striking side effect: the passing down of genetic defects from parent to child. Boston Globe, Aug. 8, 2010.
http://www.boston.com/bostonglobe/editorial_opinion/oped/articles/2010/08/08/the_infertility_dilemma/

My comment:
(a) The last name Westphal denotes a person from Westphalia.
http://en.wikipedia.org/wiki/Westphalia
(b) Intracytoplasmic sperm injection
http://en.wikipedia.org/wiki/Intracytoplasmic_sperm_injection
(The technique was developed by Gianpiero Palermo around 1991 at the Vrije Universiteit Brussel)

(c) The article states, "One Belgian study published in 2000 in the journal Fertility and Sterility found that a little over one in 100 women seeking IVF and ICSI had chromosomal defects, a rate that was seven times higher than the general population."

This refers to
Schreurs A, Legius E, Meuleman C, Fryns JP, and D'Hooghe TM, Increased frequency of chromosomal abnormalities in female partners of couples undergoing in vitro fertilization or intracytoplasmic sperm injection. Fertil Steril, 74: 94-6 (July 2000).
http://www.ncbi.nlm.nih.gov/pubmed/10899503
(Chromosomal abnormalities are more frequent in the female partners of couples seeking fertility treatment: seven times higher than in women of general population--1.14% v. 0.16%; male partners of the infertile are not examined in this study)


Note: I also found an Australian paper in that year and of the same journal dealing with male's Y microdeletion.
Cram DS, Ma K, Bhasin S, Arias J, Pandjaitan M, Chu B, Audrins MS, Saunders D, Quinn F, deKretser D, and McLachlan R, Y chromosome analysis of infertile men and their sons conceived through intracytoplasmic sperm injection: vertical transmission of deletions and rarity of de novo deletions. Fertil Steril. 74: 909-15 (Nov 2000).
http://www.ncbi.nlm.nih.gov/pubmed/11056231

(d) The article next states, "A comprehensive study published this year in the Journal of Urology found chromosome defects in 8 percent of men with fertility problems, which was 20 times the rate found in healthy fertile men.

It refers to

Yatsenko AN, Yatsenko SA, Weedin JW, Lawrence AE, Patel A, Peacock S, Matzuk MM, Dolores J. Lamb DJ, Sau Wai Cheung SW, and Larry I. Lipshultz LI, Comprehensive 5-Year Study of Cytogenetic Aberrations in 668 Infertile Men. J Urol, 183: 1636-1642 (Apr 2010).
http://www.jurology.com/article/S0022-5347(09)03148-6/abstract
(Conclusions: "Structural chromosomal defects and low level sex chromosome mosaicism are common in oligozoospermia cases. Extensive cytogenetic assessment and fluorescence in situ hybridization may improve the detection rate in males with oligozoospermia. These findings highlight the need for efficient genetic testing in infertile men so that couples may make informed decisions on assisted reproductive technologies to achieve parenthood.")

(e) The article then states, "A study that came out this July in the journal Pediatrics also reported, for the first time, a higher risk of cancer in babies born from fertility treatments.

Källén B, Finnström O, Lindam A, Nilsson E, Nygren K-G, and Olausson PO, Cancer Risk in Children and Young Adults Conceived by In Vitro Fertilization. Pediatrics, 126: 270-276 (Aug 2010).
http://pediatrics.aappublications.org/cgi/content/abstract/126/2/270?maxtoshow=&hits=10&RESULTFORMAT=1&title=cancer&andorexacttitle=and&andorexacttitleabs=and&andorexactfulltext=and&searchid=1&FIRSTINDEX=0&sortspec=relevance&volume=126&resourcetype=HWCIT
(RESULTS: We identified 53 cases of cancer in children who were born after IVF against 38 expected cases. The total cancer risk estimate was 1.42. CONCLUSIONS:  We found a moderately increased risk for cancer in children who were conceived by IVF.)

Note: The Pediatrics report was published ONLINE July 19, 2010, but in paper Aug. 1, 2010.

(f) Klinefelter's syndrome
http://en.wikipedia.org/wiki/Klinefelter%27s_syndrome
(47, XXY, in which human males have an extra X sex chromosome; The syndrome was named after Dr. Harry Klinefelter, who in 1942 worked at Massachusetts General Hospital in Boston, Massachusetts and first described it in the same yea)

Note: The last name Klinefelter is Americanized spelling of German Kleinfelder.

(g) The article also states that "doctors from Children’s Hospital of Philadelphia reported in 2008 the birth of a baby who inherited a defective Y chromosome via ICSI. The type of defect, called a ring chromosome, was the cause of the father’s severely low sperm count and could have easily been detected with a blood test that wasn’t done. The baby was born with both male and female sex organs and as a result had to undergo surgery to assign her as a female."

Which refers to

Spinner NB, Saitta SC, Delaney DP, Colliton R, Zderic SA, Ruchelli E, Zackai E, and Kolon T. Intracytoplasmic sperm injection (ICSI) with transmission of a Ring Y chromosome and ovotesticular disorder of sex development in offspring. Am J Med Genet, 146A:1828-31 (2008).
http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.32358/abstract

Note: ring chromosome
http://en.wikipedia.org/wiki/Ring_chromosome

(h) The article states that "unbeknownst to many men, one reason for impaired fertility can be a testicular tumor."

Nathanson KL et al, The Y Deletion gr/gr and Susceptibility to Testicular Germ Cell Tumor. Am. J. Hum. Genet. 77: 1034–1043, 2005.
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1285161/pdf/AJHGv77p1034.pdf
("The human Y chromosome carries a number of genes specifically involved in male germ cell development, and deletion of the AZFc region at Yq11 is the most common known genetic cause of infertility. Recently, a 1.6-Mb deletion of the Y chromosome that removes part of the AZFc region—known as the 'gr/gr' deletion—has been associated with
infertility. The gr/gr deletion was more strongly associated with a type of testicular germ cell tumor called seminoma).

Note: However, the "deletion, referred to as gr/gr, identified on the Y chromosome is probably associated with only a modest increase in TGCT risk."



(i) The article at last says, "To avoid transmitting the Y microdeletion to a son, couples also have the option of selecting female embryos to be implanted during IVF."

This is because a daughter, being female, has no Y chromosome.

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