Detailed analysis of mortality rates in the female progeny of 1,001 Holstein bulls allows the discovery of new dominant genetic defects.

Reducing juvenile mortality in cattle is important for both economic and animal welfare reasons. Previous studies have revealed a large variability in mortality rates between breeds and sire progeny groups, with some extreme cases due to dominant mutations causing various syndromes among the descendants of mosaic bulls. The purpose of this study was to monitor sire-family calf mortality within the French and Walloon Holstein populations, and to use this information to detect genetic defects that might have been overlooked by lack of specific symptoms. In a population of heifers born from 1,001 bulls between 2017 and 2020, the average sire-family mortality rates were of 11.8% from birth to 1 year of age and of 4.2, 2.9, 3.1, and 3.2% for the perinatal, postnatal, preweaning, and postweaning subperiods, respectively. After outlining the 5 worst bulls per category, we paid particular attention to the bulls Mo and Pa, because they were half-brothers. Using a battery of approaches, including necropsies, karyotyping, genetic mapping, and whole-genome sequencing, we described 2 new independent genetic defects in their progeny and their molecular etiology. Mo was found to carry a de novo reciprocal translocation between chromosomes BTA26 and BTA29, leading to increased embryonic and juvenile mortality because of aneuploidy. Clinical examination of 2 calves that were monosomic for a large proportion of BTA29, including an orthologous segment deleted in human Jacobsen syndrome, revealed symptoms shared between species. In contrast, Pa was found to be mosaic for a dominant de novo nonsense mutation of GATA 6 binding protein (GATA6), causing severe cardiac malformations. In conclusion, our results highlight the power of monitoring juvenile mortality to identify dominant genetic defects due to de novo mutation events.

Efficacy and safety of labour induction in patients with a single previous caesarean section: a proposal for a clinical protocol.

PURPOSE: To evaluate the efficacy and safety of induction in women with a single prior Caesarean section. METHODS: This was a cohort study in which we included all singleton pregnancies in patients with a single prior Caesarean who delivered between 2007 and 2012. Methods of induction were ocytocic infusion plus amniotomy (if Bishop score ≥6) or insertion of a Foley catheter (Bishop <6). RESULTS: Of the 2,075 patients included, 806 (38.8 %) had an elective repeat Caesarean, 1,045 (50.4 %) went into spontaneous labour, 89 (4.3 %) were induced by artificial rupture of the membranes and infusion of ocytocics and 135 (6.5 %) were induced using a Foley catheter. Rates of vaginal delivery were 79.2, 79.8 and 43.7 %, respectively. Six cases of uterine rupture were reported in the group of patients who went into spontaneous labour. There was no difference between groups with regard to neonatal morbidity. On multivariate analysis, risk factors for Caesarean delivery were macrosomia (OR 2.04, 95 % CI 1.31-3.18) and induction by Foley catheter (OR 3.73, 95 % CI 2.47-5.62); protective factors were previous vaginal delivery (OR 0.41, 95 % CI 0.29-0.57) and cervical dilatation (OR 0.84, 95 % CI 0.78-0.91). CONCLUSIONS: Uterine induction after a single Caesarean section with ocytocic infusion and amniotomy where the cervix is favourable does not appear to entail any significant added risk in terms of maternal or foetal morbidity. Foley catheter induction is a reasonable option if the cervix is not ripe.

Cephalad-caudad vs transverse blunt expansion of low transverse hysterotomy during caesarean section and risk of severe postpartum haemorrhage: A prospective comparative study.

BACKGROUND: The global prevalence of caesarean section as a delivery method is increasing worldwide. However, there is notable divergence among countries in their national guidelines regarding the optimal technique for blunt expansion hysterotomy of the low transverse uterine incision during caesarean section (cephalad-caudad or transverse). AIM: To compare the risk of severe postpartum haemorrhage (PPH) between cephalad-caudad and transverse blunt expansion hysterotomy during caesarean section. METHODS: This prospective comparative observational study was conducted in a university maternity hospital. All women who gave birth to one infant by caesarean section after 30 weeks of gestation between November 2020 and November 2021 were included in this study. The exclusion criteria were a coagulation disorder, the presence of placenta previa, multiple pregnancies, or enlargement of the hysterotomy with scissors. The choice between cephalad-caudad or transverse blunt expansion of the low transverse hysterotomy was left to the surgeon's discretion. The primary outcome measure was severe PPH, defined as estimated blood loss ≥ 1000 ml. Univariate and multivariate analyses were employed to assess the risk of severe PPH associated with the two methods of enlarging the low transverse hysterotomy. RESULTS: The study included 850 women, of whom 404 underwent transverse blunt expansion and 446 underwent cephalad-caudad blunt expansion. The overall incidence of severe PPH was 13.3 %. Univariate analysis revealed no significant difference in the frequency of severe PPH between the cephalad-caudad and transverse blunt expansion groups (13.9 % vs 12.6 %; p = 0.61). However, the use of additional surgical sutures (mainly additional haemostatic stitches) was less common with cephalad-caudad blunt expansion (26.7 % vs 36.9 %; p < 0.05). Multivariate analysis showed no significant difference in risk between the two techniques (odds ratio 1.17, 95 % confidence interval 0.77-1.78). CONCLUSION: No significant difference in the risk of severe PPH was found between cephalad-caudad and transverse blunt expansion of the low transverse hysterotomy during caesarean section.

[Comparison of the measurement of lactate at the cord by hand-held devices approved for use during labor with a reference device]. / Comparaison de la mesure des lactates au cordon par des appareils portatifs ayant l'habilitation pour une utilisation pendant le travail avec un appareil de référence.

OBJECTIVE: To compare two portable lactate devices, Lactate Scout and StatStrip Xpress, to a laboratory reference device by assessing the concordance of cord blood lactate values at birth. METHODS: We conducted a single-center prospective validation study in a level 3 maternity hospital. For all cord samples taken at birth, we analyzed lactates on the reference device (GEM4000®) and on two portable devices Lactate Scout and StatStrip Xpress. We compared the lactate values from each of the two handheld devices to the reference device. RESULTS: A total of 101 samples were collected. Each was analyzed by all three machines. The average lactate value obtained by the different machines was 3.7mmol/L. The mean difference between the Lactate Scout and GEM4000® apparatus was 0.0mmol/L±0.8mmol/L. Between these two devices at lactate threshold of 4.8mmol/L, the negative predictive value was 96,2% (76/79) and the area under the curve was 0.98 (95% CI 0.96-1]. The mean difference between StatStrip Xpress and GEM4000® was 0.1mmol/L±0.7mmol/L. Between these two devices at the lactate threshold of 4.8mmol/L, the negative predictive value was 97,4% (76/78) and the area under the curve was 0.95 (95% CI 0.86-1). CONCLUSION: There is a good correlation between the lactates obtained by the reference device and the two portable devices Lactate Scout and StatStrip Xpress.

Meiotic studies of a 38,XY/39,XXY mosaic boar.

Klinefelter's syndrome (KS) is the most common sex chromosome abnormality identified in human males. This syndrome is generally associated with infertility. Men with KS may have a 47,XXY or a 46,XY/47,XXY karyotype. Studies carried out in humans and mice suggest that only XY cells are able to enter and complete meiosis. These cells could originate from the XY cells present in mosaic patients or from XXY cells that have lost one X chromosome. In pig, only 3 cases of pure 39,XXY have been reported until now, and no meiotic analysis was carried out. For the first time in pig species we report the analysis of a 38,XY/39,XXY boar and describe the origin of the supplementary X chromosome and the chromosomal constitutions of the germ and Sertoli cells.

Analysis using sperm-FISH of a putative interchromosomal effect in boars carrying reciprocal translocations.

The occurrence of interchromosomal effects (ICE) in reciprocal translocation carriers still remains contradictory in the human literature. We used the pig as an animal model to investigate whether the structure of the reciprocal translocations as well as the size and/or type of the chromosomes not involved in the rearrangement may influence the occurrence and the extent of ICE. Analyses of chromosomal sperm content by fluorescence in situ hybridization (FISH) using whole-chromosome painting probes for 7 chromosomes (1, 10, 11, 13, 18, X and Y) were carried out on sperm samples of 2 boars with normal semen parameters carrying different balanced reciprocal translocations: 38, XY, t(3;15)(q27;q13) or 38, XY, t(12;14)(q13;q21). One fertile boar with normal karyotype was also studied as a control. Aneuploidy rates for the 7 chromosomes were estimated by scoring 10,000 to 20,000 spermatozoa for each probe combination. No significant ICE was found except for chromosome 1 in the case of the t(3;15) translocation. Even if statistically significant, this ICE remained very weak and should have very little impact on the reproductive performance of the carrier boar. The size and/or type of chromosomes not involved in the translocation do not seem to have a major influence on the occurrence of ICE. The structure of the translocation could play a role, but complementary studies should be carried out to confirm this assumption.

Fluorescence in situ hybridization applied to domestic animal cytogenetics.

The aim of this article is not to present an exhaustive review of molecular cytogenetics applications in domestic animal species, but more to illustrate the considerable contribution of these approaches in diagnostics and research in economically important species. A short presentation of the main applications of molecular cytogenetics in humans points out the domains in which it has become an essential tool and underlines the specificities attached to this species in comparison to farm animals. This article is devoted to outlining the current resources available in domestic species and to some examples of fluorescence in situ hybridization applications in the cattle, pig, horse and avian species. From a clinical point of view, these examples illustrate the advantages of FISH for the study of chromosomal abnormalities (identification, characterization and estimation of their effects). Other applications of molecular cytogenetics are also illustrated, particularly ZOO-FISH, an approach which allows the determination of chromosome homologies between species. Finally, a specific emphasis was placed on the usefulness of molecular cytogenetics for the analysis of species such as poultry, which harbour a complex karyotype.

Classical and molecular cytogenetics of disorders of sex development in domestic animals.

The association of abnormal chromosome constitutions and disorders of sex development in domestic animals has been recorded since the beginnings of conventional cytogenetic analysis. Deviated karyotypes consisting of abnormal sex chromosome sets (e.g. aneuploidy) and/or the coexistence of cells with different sex chromosome constitutions (e.g. mosaicism or chimerism) in an individual seem to be the main causes of anomalies of sex determination and sex differentiation. Molecular cytogenetics and genetics have increased our understanding of these pathologies, where human and mouse models have provided a substantial amount of knowledge, leading to the discovery of a number of genes implicated in mammalian sex determination and differentiation. Additionally, other genes, which appeared to be involved in ovary differentiation, have been found by investigations in domestic species such as the goat. In this paper, we present an overview of the biology of mammalian sex development as a scientific background for better understanding the body of knowledge of the clinical cytogenetics of disorders of sex development in domestic animals. An attempt to summarize of what has been described in that particular subject of veterinary medicine for each of the main mammalian domestic species is presented here.

A cytogenetic study of breeding boars in Canada.

Chromosome abnormalities are well known for their negative impact on the reproductive performance of carriers. Such abnormalities could have severe effect on animal industries which rely heavily on efficient reproduction. We conducted a cytogenetic survey of breeder pigs from 4 different Canadian farms to investigate the frequency of chromosome abnormalities and to assess their reproductive impact on pig populations. Our study revealed that 50% of the 'hypoprolific' boars and 2.5% of the young boars raised for service in artificial insemination were carriers of chromosome anomalies while no chromosome defect was noted in any of the 'proven' breeder boars. G-banding technique to determine the type of abnormalities detected 3 previously unreported translocations involving chromosomes 1 and 6, chromosomes 10 and 13 and chromosomes 9 and 14. The reciprocal nature of these translocations was confirmed either using fluorescent in situ hybridization (FISH) technique or immunostaining for synaptonemal complex delineation and were named rcp(1;6)(p22,q12), rcp(10;13), and rcp(9;14) (p24;q27), respectively. Prolificacy of 1/6 and 10/13 translocation carriers was noted to be reduced by more than 40% compared to their normal counterparts while it was reduced by 26% in carriers of the 9/14 translocation. Carriers of 1/6 and 9/14 translocations displayed a higher repeat breeding tendency, compared to their herd average (5 and 16%, respectively). While for the 9/14 translocation the prevalence of stillbirths was lower than that in their herd [8.7 vs. 10.4% (p < 0.001)]. The present results, albeit based on a relatively small number of pigs, indicate that the prevalence of chromosome abnormalities could be much higher in Canadian pigs compared to that reported in European pigs and underline the urgent need to initiate cytogenetic screening programs as one of the effective ways to reduce reproductive problems in Canadian pig populations.

Male meiotic segregation analyses of peri- and paracentric inversions in the pig species.

Inversions are well-known structural chromosomal rearrangements in humans and pigs. Such rearrangements generally have no effect on the carriers' phenotype. However, the presence of an inversion can lead to spermatogenesis impairments and to the production of unbalanced (recombinant) gametes, responsible for early miscarriages, stillbirth, or congenital abnormalities. Sperm samples from boars heterozygote for pericentric inv(2)(p1.1;q1.1), inv(2) (p1.1;q2.1), inv(1)(p2.1;q2.10), or inv(1)(p2.4;q2.9), as well as for paracentric inv(2)(q1.3;q2.5) or inv(1)(q1.2;q2.4) were analyzed using sperm FISH (fluorescent in situ hybridization on decondensed sperm heads) to determine the male meiotic segregation profiles of the rearrangements. Furthermore, the availability of sperm samples for 2 unrelated carriers of inv(2)(p1.1;q1.1) allowed us to check for the occurrence of inter-individual variability of the rates of unbalanced meiotic products for this rearrangement. The estimated proportions of recombinant gametes were very low for all the inversions studied (0.62%, 1.30%, 3.05%, 1.27%, 4.12% and 0.84%, respectively), albeit significantly higher than the control. The rearrangements should therefore have very little impact on the reproductive performance of the carriers. No difference was found between the 2 carriers of inv(2)(p1.1;q1.1), suggesting a lack of inter-individual variability for this rearrangement. Overall, no significant correlation was found between the sizes of the inverted fragments and the proportions of recombinant (unbalanced) gametes for the 6 inversions studied. This is in contradiction with most human results. Further studies (pairing and recombination analysis using immunostaining techniques) should be carried out to elucidate the origin of such an inter-species difference.

Influence of sex on the meiotic segregation of a t(13;17) Robertsonian translocation: a case study in the pig.

BACKGROUND: Comparison of male versus female meiotic segregation patterns for Robertsonian translocation (RT) carriers with similar genetic background has rarely been reported in mammalian species. METHODS: The aim of this study was to compare the segregation patterns determined for related males and females carrying a 13;17 RT in an animal model (Sus scrofa domestica L.), using dual colour fluorescence in situ hybridization on decondensed sperm nuclei and metaphases II of in vitro-matured oocytes. RESULTS: In males, no association between the trivalent and the XY body was observed in any of the 90 pachytene nuclei studied, and the rate of unbalanced spermatozoa ranged between 2.96% and 3.83%. Female meiotic segregation analyses were carried out on 83 metaphase II oocytes. The rate of unbalanced gametes was higher in females than in males (28.91% versus 3.21%, P < 0.001). This difference was due to higher rates of diploid gametes (12.04% versus 0.05%) and unbalanced gametes produced by the adjacent segregation (16.86% versus 3.16%). CONCLUSIONS: This study is a new scientific contribution to the comparison of segregation patterns in related males and females carrying an identical chromosomal rearrangement. It allows a better understanding of the meiotic behaviour of RTs. It also clearly illustrates the relevance of swine as an animal model for such meiotic studies.

Chromosomal abnormalities, meiotic behavior and fertility in domestic animals.

Since the advent of the surface microspreading technique for synaptonemal complex analysis, increasing interest in describing the synapsis patterns of chromosome abnormalities associated with fertility of domestic animals has been noticed during the past three decades. In spite of the number of scientific reports describing the occurrence of structural chromosome abnormalities, their meiotic behavior and gametic products, little is known in domestic animal species about the functional effects of such chromosome aberrations in the germ cell line of carriers. However, some interesting facts gained from recent and previous studies on the meiotic behavior of chromosome abnormalities of domestic animals permit us to discuss, in the frame of recent knowledge emerging from mouse and human investigations, the possible mechanism implicated in the well known association between meiotic disruption and chromosome pairing failure. New cytogenetic techniques, based on molecular and immunofluorescent analyses, are allowing a better description of meiotic processes, including gamete production. The present communication reviews the knowledge of the meiotic consequences of chromosome abnormalities in domestic animals.

Meiotic recombination in normal and clone bulls and their offspring.

Homologous chromosome pairing and recombination are essential components of meiosis and sexual reproduction. The reshuffling of genetic material through breakage and reunion of chromatids ensure proper segregation of homologous chromosomes in reduction division and genetic diversity in the progeny. The advent of somatic cell nuclear transfer (SCNT) as a reproductive biotechnology for use in livestock industry has made it easy to bypass these vital steps. However, few studies have been carried out on the impact of SCNT on the reproductive characteristics of cloned animals and, none to date, on the meiotic processes in animals, which were created by circumventing meiosis. In an attempt to assess the impact of cloning by SCNT on the meiotic processes, we undertook an immunocytological comparison of recombination in normal and clone bulls using antibodies raised against the synaptonemal complex protein 3 (SCP3) to label the lateral elements and the mismatch repair protein 1 (MLH1) foci on bivalents as indicators of recombination events. Our studies involving five normal bulls of proven fertility, two SCNT-derived bulls, and four mature offspring of SCNT bulls showed that the mean number of crossing over per spermatocyte for normal bulls (42 +/- 4 SD; ranging from 33 to 56), was not significantly different from that of SCNT-derived bulls (43 +/- 5 SD; ranging from 35 to 56), and the offspring of SCNT-derived bulls (43 +/- 5 SD; ranging from 37 to 58). It would appear that circumventing meiosis to produce these animals does not influence the meiotic processes revealed by MLH1 foci detected in spermatocytes.

Meiotic segregation analysis in cows carrying the t(1;29) Robertsonian translocation.

Heterozygous carriers of Robertsonian translocations generally have a normal phenotype but present reproductive failure. In cattle, the t(1;29) Robertsonian translocation is very common and carriers show a 3-5% decrease in fertility. Some data suggest that female carriers have a higher decrease than male carriers but no direct studies of the chromosome content of oocytes from a t(1;29) carrier cow have been performed so far. Four heterozygous carrier cows underwent hormonal stimulations and follicles punctions and about 800 oocytes were matured in vitro. Six hundred metaphase II preparations were obtained and analysed by fluorescent in situ hybridization with bovine chromosome 1 and 29 painting probes. Proportions of different kinds of oocytes were assessed: 74.11% (292/394) were normal and balanced, 4.06% (16/394) unbalanced and 21.83% (86/394) diploid. For all cows, the number of normal oocytes was not significantly different from the number of translocated oocytes but the diploidy and unbalanced rate were significantly different between them. As found in bulls, the meiotic segregation pattern in cows has shown a preponderance of alternate products. However, the frequency of unbalanced gametes determined in females (4.06%) was significantly higher than the frequency observed in males (2.76%). The divergence in the rate of diploid gametes (0.04% vs. 21.83%) is mainly explained by the difference between males and females.

Meiotic studies in an azoospermic boar carrying a Y;14 translocation.

A reciprocal translocation between the q arm of the Y chromosome and the q arm of chromosome 14 was identified in a young, phenotypically normal boar presenting azoospermia. Testicular biopsies were analyzed by classical histological and immunolocalization techniques, and by fluorescence in situ hybridization. Meiotic pairing analysis of 85 pachytene spreads showed the presence of an open structure corresponding to a quadrivalent formed by chromosomes 14, X, and the derivative chromosomes 14 and Y in 84.7% of the cases. In the remaining cases (15.3%), a 'trivalent plus univalent' configuration was observed. Immunolocalization of gammaH2AX revealed the presence of this modified histone in the chromatin domains of unsynapsed segments (centromeric region of chromosome 14) and spreading of the gammaH2AX signal from the XY body throughout chromosome 14 in 7.05% of the cells analyzed. The potential causes of the observed infertility, i.e. activation of meiotic checkpoints and/or silencing of genes necessary for the progression of meiosis, are discussed.

Cytogenetic screening of livestock populations in Europe: an overview.

Clinical animal cytogenetics development began in the 1960's, almost at the same time as human cytogenetics. However, the development of the two disciplines has been very different during the last four decades. Clinical animal cytogenetics reached its 'Golden Age' at the end of the 1980's. The majority of the laboratories, as well as the main screening programs in farm animal species, presented in this review, were implemented during that period, under the guidance of some historical leaders, the first of whom was Ingemar Gustavsson. Over the past 40 years, hundreds of scientific publications reporting original chromosomal abnormalities generally associated with clinical disorders (mainly fertility impairment) have been published. Since the 1980's, the number of scientists involved in clinical animal cytogenetics has drastically decreased for different reasons and the activities in that field are now concentrated in only a few laboratories (10 to 15, mainly in Europe), some of which have become highly specialized. Currently between 8,000 and 10,000 chromosomal analyses are carried out each year worldwide, mainly in cattle, pigs, and horses. About half of these analyses are performed in one French laboratory. Accurate estimates of the prevalence of chromosomal abnormalities in some populations are now available. For instance, one phenotypically normal pig in 200 controlled in France carries a structural chromosomal rearrangement. The frequency of the widespread 1;29 Robertsonian translocation in cattle has greatly decreased in most countries, but remains rather high in certain breeds (up to 20-25% in large beef cattle populations, even higher in some local breeds). The continuation, and in some instances the development of the chromosomal screening programs in farm animal populations allowed the implementation of new and original scientific projects, aimed at exploring some basic questions in the fields of chromosome and/or cell biology, thanks to easier access to interesting biological materials (germ cells, gametes, embryos ...).

Study of inter- and intra-individual variation of meiotic segregation patterns in t(3;15)(q27;q13) boars.

Constitutional chromosomal rearrangements are relatively frequent genetic anomalies in both man and pigs. Among them, reciprocal translocations, present a specific meiotic segregation pattern. The potential "individual" effect of the t(3;15)(q27,q13) translocation was studied using SpermFISH to analyze the meiotic segregation patterns of three boars carrying this rearrangement. Three samples were taken at different times from one of these boars to analyze a potential "time" effect. No "time" or "individual" effect was found in this study. These results should allow more efficient management of certain reciprocal translocations in pig populations but need to be completed by the study of other kinds of chromosomal rearrangements.

Laparoscopic pelvic lymphadenectomy in patients with intermediate-risk endometrial cancer: Is it worth it?

OBJECTIVE: The main aim of this study is to evaluate operative and postoperative morbidity of laparoscopic pelvic lymphadenectomy as well as its potential impact on the postoperative management in patients with an intermediate-risk of endometrial cancer. METHODS: We did a retrospective study between January 2009 and December 2013. We included all patients operated by laparoscopy for endometrial cancer presumed to have an intermediate-risk of recurrence. Pelvic lymphadenectomy in this group of patients was performed at the discretion of operating surgeons. Patients were consequently divided into two groups according to whether or not pelvic lymphadenectomy was performed. We made a comparative analysis between these two groups. RESULTS: Overall, 116 patients were managed for endometrial cancer presumed to be intermediate-risk. Among these, 93 received treatment with laparoscopy and were included in the study. Patients' characteristics did not differ between the two groups. The mean duration of surgery was significantly longer when pelvic lymphadenectomy was performed. The average number of retrieved lymph nodes was 13 and we had seven patients with positive lymph nodes (10%). CONCLUSION: Pelvic lymphadenectomy allows a better postoperative classification for some patients without more complication.

[Is there any relation between couple violence and repeated medical abortion?] / Existe-t-il un lien entre les violences conjugales et les interruptions volontaires de grossesses répétées ?

OBJECTIVES: Risk factors of repeated induced abortion remain unclear. One of them could be domestic violence. The aim of this study was to explore the association between repeated induced abortion and domestic violence, including violence during childhood. MATERIALS AND METHODS: A cross-sectional questionnaire study was conducted in three hospitals in Alsace. All women between 18 and 50 years old were asked to complete an anonymous questionnaire during their hospitalization for induced abortion between 31th of November 2013 and 1st of December 2014. The questionnaire included questions about the current or past existence of domestic violence. They have also been questioned about the past existence of domestic violence between their parents and the fact that they had themselves been victims of violence and abuse during childhood. RESULTS: Four hundred and eighty women answered to the questionnaire: 322 came for their first abortion while 158 were hospitalized for at least the second time for an induced abortion. The proportion of current or past violence was 53% in the "repeated induced abortions" group compared with 33% in the "first induced abortion" group (OR 2.1, CI 95% [1.4-3.1], P<0.01). Statistically significant differences were found between the two groups for all types of domestic violence. CONCLUSION: In our sample of women, we found that experiencing domestic violence with current partner appeared to be a risk factor of repeated induced abortions.

What are the likely IVF/ICSI outcomes if there is a discrepancy between serum AMH and FSH levels? A multicenter retrospective study.

OBJECTIVE: The principal outcome was to assess the ovarian response to controlled hyperstimulation during in vitro fertilization (IVF) with or without micro-injection (ICSI) in patients whom ovarian reserve testing revealed a discrepancy between the serum levels of FSH and AMH. The secondary outcome was to determine whether AMH and FSH profiles could predict the IVF/ICSI response. STUDY DESIGN: This was a multicenter, retrospective study analysing all controlled ovarian hyperstimulation cycles with attempted fresh embryo transfer(s) carried out during IVF/ICSI treatment and in which the AMH level had been assayed between January 01, 2008 and December 31, 2011. This enabled us to form 2 control groups (NOR, normal ovarian reserve: normal AMH and FSH and DOR, diminished ovarian reserve: diminished AMH, increased FSH) and 2 study groups (DAMH: diminished AMH, normal FSH and NAMH: normal AMH, increased FSH). The principal assessment criterion was quantitative ovarian response to stimulation defined by the mean number of oocytes punctured, the secondary assessment criterion the qualitative response to stimulation defined by the pregnancy rate per cycle. RESULTS: We were able to analyse 1803 stimulation cycles. The mean number of oocytes punctured was significantly reduced in the DAMH and DOR groups compared to the NAMH and NOR groups (5.2±3.9 and 4.1±3.3 vs. 11.5±7 and 9.5±5.6, respectively [P<0.01]). The pregnancy rate per initiated cycle was significantly reduced in the DAMH and DOR groups compared to the NAMH and NOR groups (20% and 24% vs. 32 and 35%, respectively [P<0.01]). Live birth rates did not differ between the groups however. Multivariate analysis with logistic regression revealed that AMH, FSH and age independently had an effect on the number of oocytes punctured, although the effect exerted by AMH seemed to be preponderant (OR: 2.75: 95%CI [2.39-3.19]). AMH appeared to be the sole factor independently predictive of pregnancy per cycle. CONCLUSION: The serum AMH level appears to provide an additional item of discriminatory information, which should not be overlooked. Ovarian reserve work-up should include routine AMH assay.