Mental development of 201 ICSI children at 2 years of age.
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Child Development↗
Biomedical subjects
M Bonduelle
Publications and source records attributed to M Bonduelle.
Outcome of pregnancies after intracytoplasmic sperm injection and the effect of sperm origin and quality on this outcome.
OBJECTIVE: To describe the outcome of pregnancies obtained after intracytoplasmic sperm injection (ICSI) and the impact of the origin and quality of sperm used on this outcome. DESIGN: Retrospective analysis. SETTING: A tertiary referral center for assisted reproduction. PATIENT(S): Pregnant patients conceived after microinjection of ejaculated sperm (n=1,427), epididymal sperm (n=79), and testicular sperm (n=93). INTERVENTION(S): ICSI, epididymal sperm aspiration, and testicular biopsy. MAIN OUTCOME MEASURE(S): Stillbirth, prematurity, and early perinatal mortality. RESULT(S): The delivery rate of multiple births was 31.4%, and the preterm delivery rate was 25.6%. The prematurity rates in singletons, twins, and triplets were 9.9%, 56.7%, and 96.6%, respectively. The early perinatal mortality rate of the entire population was 26.1 per thousand. In the ejaculated-sperm group, when the sperm was severely defective (group 1), 14 intrauterine deaths occurred (3.1%). In the second and third groups, in which sperm was moderately defective, there were 2 deaths and 1 death (0.6% and 0.4%), respectively. The difference between the number of deaths in group 1 vs. groups 2/3 was statistically significant. CONCLUSION(S): The rates of multiple pregnancies, preterm deliveries, low birth weight, and early perinatal mortality were higher after ICSI than after natural conception. In the ejaculated-sperm group, the rate of intrauterine death was higher in the severely defective sperm group than in the better-quality sperm groups.
Adult↗
Prenatal diagnosis by chorionic villus sampling in multiple pregnancies prior to fetal reduction.
Ovulation induction and assisted-reproduction techniques have dramatically increased the incidence of high-risk multiple pregnancies over the past 10 years. Perinatal outcome may be improved by the use of multifetal reduction. The fetus to be reduced used to be selected only on technical grounds. We report on the results of prenatal diagnosis by chorionic villus sampling (CVS) during the first trimester in 32 multifetal pregnancies in which fetal reduction was requested. The mean gestational age at CVS was 10.5 weeks. Chromosomal analyses were available for all sampled fetuses, three of which were chromosomally abnormal. In 24 couples, fetal reduction to twin pregnancies was successfully carried out within 1 week after the CVS. In seven cases, the couples elected not to proceed with fetal reduction after receiving information that the chromosomal analysis was normal in all fetuses. Mean gestational ages at delivery were, respectively, 34.6 and 31.8 weeks in the reduced and the nonreduced groups (p = 0.04). No fetal losses occurred in either group; one neonatal death was observed after a preterm delivery because of preeclampsia in a twin pregnancy. Prenatal cytogenetic diagnosis during the first trimester in multiple pregnancies prior to fetal reduction appears to be feasible, accurate, and safe. Abnormal chromosomal results indicate the fetus(es) to be reduced. The parents' decisions not to proceed with the fetal reduction procedure, where chromosomal results in all the fetuses were normal, were unexpected.
Adult↗
Obstetric outcome after prenatal diagnosis in pregnancies obtained after intracytoplasmic sperm injection.
In this study we compared the pregnancy outcome of 576 pregnancies after prenatal diagnosis with that of 540 pregnancies without prenatal diagnosis in our microinjection programme. Amniocentesis was suggested for singleton pregnancies (n = 465) and chorionic villus sampling (CVS) was proposed for twin pregnancies (n = 111 pregnancies, 222 fetuses). A total of 365 patients with singleton pregnancies and 175 patients with twin pregnancies who did not undergo prenatal diagnosis were selected as controls. Compared with the controls, the odds ratios in the amniocentesis group for preterm delivery, low birthweight, very low birthweight and fetal loss were 0.97 [95% confidence interval (CI): 0.60-1.57], 1.27 (95% CI: 0.78-2.06), 1.57 (95% CI: 0.53-4.66) and 0.86 (95% CI: 0.32-2.37) respectively. Compared with the controls, the odds ratios in the CVS group for preterm delivery, low birthweight, very low birthweight and fetal loss were 0.89 (95% CI: 0.61-1.30), 1.03 (95% CI: 0.74-1.45), 0.79 (95% CI: 0.41-1.53) and 0.47 (95% CI: 0.17-1.30) respectively. We concluded that, in this series of intracytoplasmic sperm injection (ICSI) pregnancies, prenatal testing did not increase the preterm-delivery, the low-birthweight, or the very low-birthweight rates as compared with those of the controls. In the prenatal diagnosis group, the fetal loss rate was comparable to that of the control group. Larger prospective controlled studies are needed in order to inform patients reliably about the risks and the advantages of prenatal testing in ICSI pregnancies.
Adult↗
Incidence of chromosomal aberrations in children born after assisted reproduction through intracytoplasmic sperm injection.
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Child↗
Clinical experience with preimplantation genetic diagnosis and intracytoplasmic sperm injection.
Preimplantation genetic diagnosis (PGD) is a novel procedure whose use may be considered to obtain a very early prenatal diagnosis for couples at risk for transmitting genetic diseases. Using the polymerase chain reaction (PCR) or fluorescence in-situ hybridization (FISH) the genotype or the sex of biopsied cleavage-stage embryos obtained after in-vitro fertilization can be determined and selected embryos can then be transferred. In-vitro fertilization with intracytoplasmic sperm injection is the method of choice to obtain embryos to be analysed through PCR to reduce contamination by residual sperm DNA. In our series of 61 PGD cycles for 29 couples at risk over a period of 4 years the ongoing pregnancy rate per cycle was 15%, per transfer 19% and per patient 31%. One of the six morphologically normal children born, who is still alive and doing well, weighed 850 g after birth at 25 weeks following a complicated triplet pregnancy. More experience is needed to correctly evaluate the efficiency and safety of this novel technique as well as to determine its place in the prevention of genetic disease.
Adult↗
A follow-up study of children born after intracytoplasmic sperm injection (ICSI) with epididymal and testicular spermatozoa and after replacement of cryopreserved embryos obtained after ICSI.
The aim of this prospective follow-up study of children born after intracytoplasmic sperm injection (ICSI) was to compile data on karyotypes, congenital malformations, growth parameters and developmental milestones in order to evaluate the safety of this new technique. The study design included karyotyping of the parents and their agreement to genetic counselling and prenatal diagnosis and it was based on a physical examination of the child at the Centre for Medical Genetics at the ages of 2 months, 1 year and at 2 years, where major and minor malformations and psychomotor evolution are recorded. Here we describe the first 57 children born from 40 ICSI pregnancies with epididymal spermatozoa (group 1), the first 50 children born from 34 ICSI pregnancies with testicular spermatozoa (group 2) and the first 58 children born from 48 pregnancies after replacement of cryopreserved ICSI embryos (group 3). Parental karyotypes were obtained from only 72/246 (29%) parents and were all normal. Prenatal karyotypes were determined for a total of 70 samples (40%): 21 in group 1, 15 in group 2 and 34 in group 3. In this last group 2 abnormal 47,XXY karyotypes (5.8%) and no structural aberrations were found. This increase in de-novo sex-chromosomal aberrations has already been described with regard to the first 877 children born after ICSI carried out at our Centre and is probably linked directly to the characteristics of the infertile men treated rather than to the ICSI procedure itself. Major malformations, defined as those causing functional impairment or requiring surgical correction, were observed in four children: two born after ICSI with epididymal spermatozoa, one after ICSI with testicular spermatozoa and one after ICSI and cryopreservation. No particular malformation was disproportionally frequent. In the follow-up examinations at 2 months (107/161 or 66.5%) and at 1 year (37/161 or 22.9%), no additional anomalies were observed. Lost for follow-up rate at 2 months was 33.5%. These observations on a limited number of children do not suggest a higher incidence of diseases linked to imprinting, nor do they suggest a higher incidence of congenital malformations. These observations are still limited in number and should be further completed by others and by collaborative efforts. In the meanwhile patients should be told about the available data before any treatment: there appears to be some risk of transmitted chromosomal aberrations, of de-novo, mainly sex-chromosomal aberrations and of transmitting fertility problems to the offspring. Patients should also be reassured that until now there seems to be no higher incidence of congenital malformations in children born after ICSI with epididymal or testicular spermatozoa or after replacement of ICSI embryos.
Adult↗
[The Salpêtrière from Mazarin to Charcot].
The edict of 1656 creating the Hôpital Général for sheltering the incapacitated and beggars assigned women to the Salpêtrière which kept its name of Petit-Arsenal (1636). Mazarin contributed generously to the construction. The completion of the facade (1756) imparted a final shape to the overall plan that had been uncertain for a long time. The Infirmerie générale (1780-1787) made a start toward medicalization, while the loges housed the insane under better conditions. For the Salpêtrière (named in 1837 Hospice de la Vieillesse-Femmes [Hospice for old Women]), it was the era of the alienists, renown for Pinel, his students and successors. In 1862 Charcot undertook the cultivation of its "inexhaustable resources". A laboratory in the avant-garde of microscopy became the basis for the anatomo-clinical method. In ten years Charcot laid the foundations of neurology: multiple sclerosis, locomotor ataxia, physiological anatomy of the cord, amyotrophic lateral sclerosis, etc. After his work on motor localization (1875), hysteria became his prime subject. Between 1877 and 1881, he built a service that became a model: laboratories, related clinical departments, a polyclinic (an putpatient department, a short-term hospital). The creation in 1882 of the clinical chair for diseases of the nervous system crowned the enterprise. The formal lectures on Fridays and the Tuesday clinical conferences attracted an audience from around the world. Charcot and his school made the Salpêtrière synonomous with neurology.
France↗
Ethical issues in breast and ovarian cancer genetic counseling.
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Belgium↗
[History of medicine: Georges Guillain (1876-1961)].
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France↗
How to counsel in osteopathia striata with cranial sclerosis.
Osteopathia with cranial sclerosis (OS-CS) is an autosomal dominant condition, which is characterized by typical radiological changes of the skull and the long bones, in association with a wide variety of clinical symptoms. A family is reported with at least three affected individuals. One of them, a young women and her husband asked for a preconceptional advice, but the highly variable expressivity, as documented by this family, made it very difficult to counsel them properly.
Adult↗
[Mutations of the endothelin-3 gene in isolated and syndromic forms of Hirschsprung disease].
AIMS AND METHODS: Hirschsprung's disease is a frequent congenital malformation regarded as a multigenic neurocristopathy. Three susceptibility genes have been identified in Hirschsprung's disease, namely the RET proto-oncogene, the Glial cell line-Derived Neurotrophic Factor and the endothelin B receptor. A total of 174 probands with isolated Hirschsprung's disease (59 familial, 117 sporadic cases), and 4 patients with associated Waardenburg's syndrome and Hirschsprung's disease (1 familial, 3 sporadic cases) were screened for mutations in the coding sequence of the endothelin 3 gene. The coding sequence of the endothelin 3 gene was analyzed for point mutations, using a combination of SSCP analysis and direct DNA sequencing. RESULTS: Two heterozygous mutations (A17T and A224T) were identified in two patients with isolated Hirschsprung's disease. Two homozygous truncations mutations (E55X and GC262->T) were identified in patients with the Waardenburg's syndrome/Hirschsprung's disease association. CONCLUSION: The present data give further support to the role of the endothelin-signaling pathway in the development of neural crest-derived enteric neurons. They also suggest that either recessive and weakly penetrant dominant alleles could occur at the EDN3 locus, depending on the nature of the mutation.
Endothelin-3↗
First trimester chorionic villus sampling in twin gestations.
First-trimester prenatal diagnosis was offered to 104 twin pregnancies mainly for advanced maternal age and cytogenetic evaluation of a new fertilization technique. Chorionic villus sampling (CVS) was performed transcervically (35%), transabdominally (23%), or by combination of these two techniques (42%). Although no placental biopsy failures occurred, two errors in fetal sexing were recorded due to non-selective placental sampling. In these two cases, both fetuses were sampled transcervically. Cytogenetic results were available for all fetuses; six of them showed an abnormal direct chromosomal pattern, but long-term villi culture analysis or additional amniocentesis (n = 1) reduced the number to four. Early fetal loss (3.4%) and perinatal mortality (6.3%) after CVS were comparable with a control group of 101 consecutive twin pregnancies without prenatal diagnosis (respectively 6.9% and 5.3%). Perinatal loss in the CVS group was associated in 10 of 12 fetuses with preterm premature rupture of the membranes and consequent preterm delivery. Mean gestational age at delivery, mean birthweight and the frequency of preterm delivery, and low birthweight infants were nearly identical in both groups. This study shows that CVS in the first trimester of pregnancy is an accurate and fast approach for prenatal diagnosis in twin gestations with an acceptable risk of adverse pregnancy outcome. However, a transcervical approach for both fetuses is not recommended.
Adult↗
Charcot and aphasia.
Whereas the beginning part of Charcot's career was occupied with a rigorous and unerring devotion to the anatomo-clinical method, his later career shared attention with physiologic and psychological analyses of hysteria. The seeming paradox between these differing approaches to neurologic study can be better understood by an analysis of Charcot's work on aphasia. This area of study grew out of Charcot's larger research effort on cerebral localization, but was not well known, because most of his lectures on aphasia were never widely published or distributed in either French or English. In analyzing aphasia, Charcot began with anatomic lesions, but gradually incorporated cases of hysterical aphasia, as evidence of dynamic lesions of the same brain areas. Although aphasia never represented a prominent area of study for Charcot, it held a particularly important place in his career first because it provided this transition between anatomic and physiologic approaches to neurologic research, and second because it permitted a natural two-way passage between the topics of cerebral localization and hysteria.
Aphasia↗
Cytogenetics of infertile men.
Chromosomally derived sterility has long been recognized. A review of the literature of somatic chromosome investigations in infertile males has shown that 13.7% of azoospermic males and 4.6% of oligozoospermic males have an abnormal karyotype. In the first group, sex chromosome abnormalities predominate (mainly 47,XXY), whereas in the latter, autosome anomalies (i.e. Robertsonian and reciprocal translocations) are the most frequent. A similar review on meiotic studies revealed that meiotic chromosome anomalies can explain male infertility in 4.3-40.4% of patients. Recently, fluorescent in-situ hybridization studies on spermatozoa from infertile men were published; it was suggested that both X-Y pairing and pairing of the autosomes were impaired, resulting in spermatogenic disruption. We investigated cytogenetically 694 infertile men with abnormal sperm parameters. More patients are needed for this research to investigate the relationship, if any, between the type of chromosome abnormality and its influence on the number, morphology and motility of spermatozoa. To be able to provide proper counselling for those couples whose male infertility can now be treated by intracytoplasmic sperm injection, it is suggested that clinical investigations should include mitotic and meiotic studies, an analysis of the chromosome content of individual spermatozoa and a DNA analysis of blood and spermatozoa to detect partially deleted Y chromosome material.
Chromosome Aberrations↗
Obstetric outcome of 904 pregnancies after intracytoplasmic sperm injection.
The obstetric data of 904 consecutive pregnancies obtained after intracytoplasmic sperm injection (ICSI) using ejaculated spermatozoa (group I), epididymal spermatozoa (group II), testicular spermatozoa (group III) and after the replacement of frozen-thawed embryos (group IV) are described. In all, there were 785 pregnancies in group I, 37 pregnancies in group II, 30 pregnancies in group III and 52 pregnancies in group IV. A total of 24 pregnancies (2.5%) have so far been lost to follow-up. The incidence of pregnancy loss, i.e. subclinical pregnancies, clinical abortions and ectopic pregnancies were highest in group IV (61.4%). Early pregnancy loss in groups I, II and III were 21.9, 37.8 and 33.3% respectively. Prenatal diagnosis was performed in 64.4% of the clinical pregnancies: amniocentesis in 48.2% and chorionic villus sampling in 16.2%. The karyotypes were normal in 97.6% of the prenatal diagnoses and there were 1.2% de novo and 1.2% inherited chromosome aberrations. Pregnancy complications such as prematurity and low birthweight were related to pregnancy multiplicity. Perinatal mortality occurred in 15 babies (17.1 per thousand), including nine intrauterine fetal deaths after 25 weeks of gestation and six cases of mortality during the first 7 days after birth. There is no evidence that the technique of ICSI using sperm cells of different origins yielded a higher obstetric risk.
Abortion, Spontaneous↗
Prospective follow-up study of 877 children born after intracytoplasmic sperm injection (ICSI), with ejaculated epididymal and testicular spermatozoa and after replacement of cryopreserved embryos obtained after ICSI.
A prospective follow-up study of 877 children born after ICSI was carried out. The aim of this study was to compile data on karyotypes, congenital malformations, growth parameters and developmental milestones so as to evaluate the safety of this new technique. The follow-up study included agreement to genetic counselling and prenatal diagnosis and was based on a physical examination at the Centre for Medical Genetics (Dutch-speaking Brussels Free University, Brussels, Belgium) at 2 months, 1 year and 2 years, when major and minor malformations and a psychomotor evolution were recorded. Between April 1991 and July 1995, 904 pregnancies obtained after intracytoplasmic sperm injection (ICSI) led to the birth of 877 children (465 singletons, 379 twins and 33 triplets). Prenatal diagnosis determined a total of 486 karyotypes, of which six were abnormal (1.2%) and six (1.2%) were familial structural aberrations, all transmitted from the father. This slight increase in de-novo chromosomal aberrations and the higher frequency of transmitted chromosomal aberrations are probably linked directly to the characteristics of the infertile men treated rather than to the ICSI procedure itself. In all, 23 (2.6%) major malformations were observed in the children born, defined as those causing functional impairment or requiring surgical correction. No particular malformation was disproportionately frequent. Compared with most registers of children born after assisted reproduction and with registers of malformation in the general population, the figure of 2.6% was within the expected range. These observations should be further completed by others and by collaborative efforts. In the meantime, patiens should be counselled about the available data before any treatment: the risk of transmitted chromosomal aberrations, the risk of de-novo, mainly sex chromosomal, aberrations and the risk of transmitting fertility problems to the offspring. Patients should also be reassured that there seems to be no higher incidence of congenital malformations in children born after ICSI.
Congenital Abnormalities↗