ABSTRACT
Following the death in France by acute aortic dissection of two women with Turner syndrome who were pregnant following oocyte donation, the Director of the French Biomedicine Agency (Agence de la biomédecine) sent a letter to the President of the French College of Obstetricians and Gynaecologists (FCOG). He requested the College's expertise in reviewing point-by-point the cases and risk factors and in determining whether there are grounds to propose additional measures complementary to the recommendations made by the Haute autorité de santé or French National Authority for Health (HAS) in 2008 in terms of indication and monitoring of patients. A joint practice committee of the FCOG, the French Cardiologic Society, the French Chest and Cardiovascular Surgery Society, the French Society of Anaesthesia and Intensive Care, the French Endocrine Society, the French study group for oocyte donation, and the Biomedicine Agency defined the exact questions to be put to the experts, chose these experts, followed them up and drafted the synthesis of recommendations resulting from their work. The questions concerned the check-up before pregnancy of Turner patients, contraindication and acceptance of pregnancy, information for the patients, and recommendations for antenatal care, delivery and postnatal follow-up.
Subject(s)
Pregnancy Complications, Cardiovascular/diagnosis , Pregnancy Complications, Cardiovascular/therapy , Prenatal Care , Turner Syndrome/diagnosis , Turner Syndrome/therapy , Aortic Dissection/etiology , Contraindications , Delivery, Obstetric , Female , France , Humans , Oocyte Donation , Practice Guidelines as Topic , Pregnancy , Risk FactorsABSTRACT
OBJECTIVE: To investigate paternal age effect mediated by biological modifications with use of data from assisted reproductive technologies. DESIGN: National IVF registry. SETTING: Fifty nine French IVF centers. PATIENT(S): A total of 1,938 men whose partners were totally sterile, with bilateral tubal obstruction or absence of both tubes (to avoid bias sampling in analysis of paternal age) and treated by conventional IVF. INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): Risk of failure to conceive defined as absence of intrauterine pregnancy. RESULT(S): The odds ratio of failure to conceive for paternal age > or =40 years was 2.00 (95% confidence interval [CI]: 1.10-3.61) when the woman was 35-37 years old, 2.03 (95% CI: 1.12-3.68) for age 38-40 years, and 5.74 (95% CI: 2.16, 15.23) for age 41 years and over. CONCLUSION(S): As an increasing number of couples choose to postpone childbearing, they should be informed that paternal age over 40 years is an important risk factor for failure to conceive.
Subject(s)
Fathers/statistics & numerical data , Fertilization in Vitro/statistics & numerical data , Infertility, Female/epidemiology , Infertility, Female/therapy , Pregnancy Outcome/epidemiology , Registries , Risk Assessment/methods , Adult , Age Distribution , Aged , Aged, 80 and over , Female , France/epidemiology , Humans , Incidence , Male , Maternal Age , Middle Aged , Paternal Age , Pregnancy , Pregnancy Rate , Risk Factors , Treatment Failure , Treatment OutcomeABSTRACT
Embryo donation is now an acceptable practice which offers new possibilities to many infertile couples wishing to procreate. In France, embryo donation, like gamete donation, is controlled by law, but its application has been poorly developed because too many questions remained unsolved and because of the lack of practical guidelines. Here we report the results of the debate which took place within the Genetics Commission of the French Federation of CECOS and the proposed recommendations which followed, emphasizing the genetic background to be considered for embryo donation.
Subject(s)
Genetic Diseases, Inborn/epidemiology , Genetic Diseases, Inborn/prevention & control , Reproductive Techniques, Assisted/standards , Tissue and Organ Procurement/standards , France/epidemiology , Humans , Practice Guidelines as Topic , Risk FactorsABSTRACT
Translocations involving the short arms of the X and Y in human chromosomes are uncommon. One of the best-known consequences of such exchanges is sex reversal in 46,XX males and some 46,XY females, due to exchange in the paternal germline of terminal portions of Xp and Yp, including the SRY gene. Translocations of Xp segments to the Y chromosome result in functional disomy of the X chromosome with an abnormal phenotype and sex reversal if the DSS locus, mapped in Xp21, is present. We describe a 7-month-old girl with severe psychomotor retardation, minor anomalies, malformations, and female external genitalia. Cytogenetic analysis showed a 46,X,mar karyotype. The marker was identified as a der(Y)t(Xp;Yp) by fluorescence in situ hybridisation analysis. Further studies with specific locus probes of X and Y chromosomes made it possible to clarify the break points and demonstrated the presence of two copies of the DAX1 gene, one on the normal X chromosome and one on the der(Y). The karyotype of the child was: 46,X,der(Y)t(X;Y)(p21.2;p11.3). The syndrome resulted from functional disomy Xp21.2-pter, with sex reversal related to the presence of two active copies of the DAX1 gene located in Xp21. Few cases of Xp disomy with sex reversal have been reported, primarily related to Xp duplications with 46,XY karyotype, and less often to Xp;Yq translocations. To our knowledge, our patient with sex reversal and a t(Xp;Yp) is the second reported case.