Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 20 de 63
Filter
1.
Hum Reprod ; 35(4): 999-1003, 2020 04 28.
Article in English | MEDLINE | ID: mdl-32187366

ABSTRACT

The persistent Müllerian duct syndrome (PMDS) is defined by the persistence of Müllerian derivatives in an otherwise normally virilized 46,XY male. It is usually caused by mutations in either the anti-Müllerian hormone (AMH) or AMH receptor type 2 (AMHR2) genes. We report the first cases of PMDS resulting from a microdeletion of the chromosomal region 12q13.13, the locus of the gene for AMHR2. One case involved a homozygous microdeletion of five exons of the AMHR2 gene. In the second case, the whole AMHR2 gene was deleted from the maternally inherited chromosome. The patient's paternal allele carried a stop mutation, which was initially thought to be homozygous by Sanger sequencing. Diagnostic methods are discussed, with an emphasis on comparative genomic hybridization and targeted massive parallel sequencing.


Subject(s)
Receptors, Peptide , Receptors, Transforming Growth Factor beta , Anti-Mullerian Hormone/genetics , Comparative Genomic Hybridization , Disorder of Sex Development, 46,XY , Humans , Male , Receptors, Peptide/genetics , Receptors, Transforming Growth Factor beta/genetics
2.
Eur J Med Genet ; 57(4): 174-80, 2014 Mar.
Article in English | MEDLINE | ID: mdl-24486774

ABSTRACT

Interstitial duplication within the long arm of chromosome 20 is an uncommon chromosome structural abnormality. We report here the clinical and molecular characterization associated with pure 20q13.2 duplication in three unrelated patients. The most frequent clinical features were developmental delay, facial dysmorphism, cardiac malformation and skeletal anomalies. All DNA gains occurred de novo, ranging from 1.1 Mb to 11.5 Mb. Compared with previously reported conventional cytogenetic analyses, oligonucleotides array CGH allowed us to refine breakpoints and determine the genes of interest in the region. Involvement of SALL4 in cardiac malformations and NFATC2 gene disruption in both cardiac and skeletal anomalies are discussed.


Subject(s)
Abnormalities, Multiple/genetics , Chromosomes, Human, Pair 22/genetics , Gene Duplication , NFATC Transcription Factors/genetics , Transcription Factors/genetics , Child, Preschool , Chromosome Aberrations , Comparative Genomic Hybridization , Craniofacial Abnormalities/genetics , Developmental Disabilities/genetics , Female , Fetal Diseases/genetics , Heart Defects, Congenital/genetics , Humans , In Situ Hybridization, Fluorescence , Karyotype , Male , Young Adult
3.
Reprod Biomed Online ; 24(1): 72-82, 2012 Jan.
Article in English | MEDLINE | ID: mdl-22116069

ABSTRACT

Small supernumerary marker chromosomes (sSMC) are structurally abnormal chromosomes that cannot be unambiguously identified by conventional banding cytogenetics. This study describes four patients with sSMC in relation with infertility. Patient 1 had primary infertility. His brother, fertile, carried the same sSMC (patient 2). Patient 3 presented polycystic ovary syndrome and patient 4 primary ovarian insufficiency. Cytogenetic studies, array comparative genomic hybridization (CGH) and sperm analyses were compared with cases previously reported. sSMC corresponded to the 15q11.2 region (patients 1 and 2), the centromeric chromosome 15 region (patient 3) and the 21p11.2 region (patient 4). Array CGH showed 3.6-Mb gain for patients 1 and 2 and 0.266-Mb gain for patient 4. Sperm fluorescent in-situ hybridization analyses found ratios of 0.37 and 0.30 of sperm nuclei with sSMC(15) for patients 1 and 2, respectively (P < 0.001). An increase of sperm nuclei with disomy X, Y and 18 was noted for patient 1 compared with control and patient 2 (P < 0.001). Among the genes mapped in the unbalanced chromosomal regions, POTE B and BAGE are related to the testis and ovary, respectively. The implication of sSMC in infertility could be due to duplication, but also to mechanical effects perturbing meiosis.


Subject(s)
Chromosome Aberrations , Comparative Genomic Hybridization/methods , Genetic Markers/genetics , Infertility, Female/genetics , Infertility, Male/genetics , Adult , Cytogenetics , Female , Gene Deletion , Humans , In Situ Hybridization, Fluorescence/methods , Male , Polycystic Ovary Syndrome/genetics , Polymerase Chain Reaction/methods , Spermatozoa/metabolism
4.
Ann Endocrinol (Paris) ; 71(3): 218-21, 2010 May.
Article in English | MEDLINE | ID: mdl-20362963

ABSTRACT

Premature ovarian failure (POF) is defined as an amenorrhea for more than 4months, associated with elevated gonadotropins, usually higher than 20mIU/ml, occurring in a woman before the age of 40. Some candidate genes have been identified in the past 15years, such as FOXL2, FSHR, BMP15, GDF9, Xfra premutation. However, POF etiology remains unknown in more than 90% of cases. The first strategy to identify candidate gene, apart from studying genes involved in ovarian failure in animal models, relies on the study of X chromosome deletions and X;autosome translocations in patients. The second strategy is based on linkage analysis, the third one on Comparative Genomic Hybridization (CGH) array. The latest strategy relies on Genome-Wide Association Studies (GWAS). This technique consists in screening single nucleotide polymorphisms (SNPs) in patients and controls. So far, three studies have been performed and have identified different loci potentially linked to POF, such as PTHB1 and ADAMTS19. However, replications in independent cohorts need to be performed. GWAS studies on large cohorts of women with POF should find new candidate genes in the near future.


Subject(s)
Genome-Wide Association Study/methods , Primary Ovarian Insufficiency/genetics , Adult , Bone Morphogenetic Protein 15/genetics , Chromosome Mapping , Female , Forkhead Box Protein L2 , Forkhead Transcription Factors/genetics , Growth Differentiation Factor 9/genetics , Humans , Mutation , Polymorphism, Single Nucleotide , Receptors, FSH/genetics , Reference Values
5.
Am J Med Genet A ; 152A(2): 464-71, 2010 Feb.
Article in English | MEDLINE | ID: mdl-20101685

ABSTRACT

The occurrence of an additional ring chromosome 20 is a rare chromosome abnormality, and no common phenotype has been yet described. We report on two new patients presenting with a supernumerary ring chromosome 20 both prenatally diagnosed. The first presented with intrauterine growth retardation and some craniofacial dysmorphism, and the second case had a normal phenotype except for obesity. Conventional cytogenetic studies showed for each patient a small supernumerary marker chromosome (SMC). Using fluorescence in situ hybridization, these SMCs corresponded to ring chromosomes 20 including a part of short and long arms of chromosome 20. Detailed molecular cytogenetic characterization showed different breakpoints (20p11.23 and 20q11.23 for Patient 1 and 20p11.21 and 20q11.21 for Patient 2) and sizes of the two ring chromosomes 20 (13.6 Mb for case 1 and 4.8 Mb for case 2). Review of the 13 case reports of an extra r(20) ascertained postnatally (8 cases) and prenatally (5 cases) showed varying degrees of phenotypic abnormalities. We document a detailed molecular cytogenetic chromosomal breakpoints characterization of two cases of supernumerary ring chromosomes 20. These results emphasize the need to characterize precisely chromosomal breakpoints of supernumerary ring chromosomes 20 in order to establish genotype-phenotype correlation. This report may be helpful for prediction of natural history and outcome, particularly in prenatal diagnosis.


Subject(s)
Chromosome Aberrations , Chromosome Disorders/genetics , Chromosomes, Human, Pair 20/genetics , Chromosomes, Human, Pair 20/ultrastructure , Ring Chromosomes , Cytogenetics , Female , Genotype , Humans , In Situ Hybridization, Fluorescence , Karyotyping , Lymphocytes/metabolism , Models, Genetic , Phenotype , Pregnancy , Prenatal Diagnosis
6.
Reprod Biomed Online ; 19 Suppl 4: 4309, 2009.
Article in English | MEDLINE | ID: mdl-20034411

ABSTRACT

BCL2-associated X protein (BAX) and B-cell leukaemia/lymphoma gene-2 (BCL2), which are, respectively, pro- and anti-apoptotic proteins of the BCL2 gene family, participate in the mitochondria-dependent apoptosis pathway. A correlation between low incidence of apoptosis in cumulus cells and oocyte maturation has previously been suggested in ovarian stimulation. However, little is known in unprimed ovaries. These authors have investigated whether BAX and BCL2 expression in cumulus cells affects the competency of in-vitro matured oocytes. We have studied 100 cumulus-oocyte-complexes (COC) recovered from unprimed ovaries of 13 women diagnosed with polycystic ovary syndrome (PCOS) and undergoing in-vitro maturation (IVM) with their informed consent. COC were matured for 24 h in a specific maturation medium and the cumulus was stripped from the oocyte. BAX and BCL2 mRNA content was measured in each COC using real-time polymerase chain reaction. We found that BCL2 mRNA expression was significantly higher in cumulus cells associated with mature oocytes than those associated with immature oocytes while BAX mRNA concentrations did not vary in cumulus cells. Regarding fertilization, higher BCL2 mRNA content was found in cumulus cells enclosing fertilized oocytes (0.140 versus 0.075; P = 0.03). These results suggest that BCL2 expression is strongly associated with the ability of oocytes to complete nuclear maturation and to be fertilized.


Subject(s)
Cumulus Cells/chemistry , Genes, bcl-2/genetics , Oocytes/growth & development , RNA, Messenger/analysis , Apoptosis/physiology , Cells, Cultured , Cumulus Cells/physiology , Female , Fertilization in Vitro , Humans , Polycystic Ovary Syndrome , bcl-2-Associated X Protein/genetics
7.
Reprod Biomed Online ; 19 Suppl 4: 4199, 2009.
Article in English | MEDLINE | ID: mdl-20034412

ABSTRACT

Novel embryonic stem cell lines derived from embryos carrying structural chromosomal abnormalities obtained after preimplantation genetic diagnosis (PGD) are of interest to study in terms of the influence of abnormalities on further development. A total of 22 unbalanced blastocysts obtained after PGD were analysed for structural chromosomal defects. Morphological description and chromosomal status of these blastocysts was established and they were used to derive human embryonic stem cell (ESC) lines. An outgrowth of cells was observed for six blastocysts (6/22; 27%). For two blastocysts, the exact morphology was unknown since they were at early stage, and for four blastocysts, the inner cell mass was clearly visible. Fifteen blastocysts carried an unbalanced chromosomal defect linked to a reciprocal translocation, resulting in a positive outgrowth of cells for five blastocysts. One human ESC line was obtained from a blastocyst carrying a partial chromosome-21 monosomy and a partial chromosome-1 trisomy. Six blastocysts carried an unbalanced chromosomal defect linked to a Robertsonian translocation, and one showed a positive outgrowth of cells. One blastocyst carried an unbalanced chromosomal defect linked to an insertion and no outgrowth was observed. The efficiency of deriving human ESC lines with constitutional chromosomal disorders was low and probably depends on the initial morphological aspect of the blastocysts and/or the type of the chromosomal disorders.


Subject(s)
Blastocyst/ultrastructure , Embryonic Stem Cells , Preimplantation Diagnosis , Translocation, Genetic/genetics , Cell Line , Chromosomes, Human, Pair 1/genetics , Chromosomes, Human, Pair 21/genetics , Humans , Monosomy , Trisomy
9.
Am J Med Genet A ; 149A(2): 226-31, 2009 Feb.
Article in English | MEDLINE | ID: mdl-19161154

ABSTRACT

To date, 10 cases of recombinant of chromosome 4 pericentric inversion involving sub-bands p14p15 and q35 have been described. We report on the first case analyzed using array-CGH in a female infant presenting psychomotor and growth retardation, facial anomalies, axial hypotonia, short neck, wide spaced nipples and cardiac defects. Conventional karyotype associated to FISH revealed a recombinant chromosome 4 with partial 4p duplication and 4q deletion derived from a paternal pericentric inversion. Array-CGH allowed us to precise rec4 breakpoints: the proposita carried a small 4.82-4.97 Mb 4q35.1 terminal deletion and a large 35.3-36.7 Mb 4p15.1 terminal duplication. Duplications of the distal 2/3 of short arm of chromosome 4 give rise to recognizable craniofacial features but no specific visceral malformation. A contrario small terminal 4q deletions are associated with cardiac defects. This case and review of literature suggest that two genes ArgBP2 and PDLIM3, located at 4q35.1 and both involved in cardiac and muscle development, could be responsible for cardiac defects observed in terminal 4q35.1 deletions.


Subject(s)
Abnormalities, Multiple/genetics , Chromosome Aberrations , Chromosomes, Human, Pair 4 , Developmental Disabilities/genetics , Chromosome Inversion , Cytogenetic Analysis , Female , Gene Duplication , Heart Defects, Congenital , Humans , Infant , Muscular Diseases/genetics , Pedigree , Recombination, Genetic , Sequence Deletion
11.
Reprod Biomed Online ; 16(1): 152-8, 2008 Jan.
Article in English | MEDLINE | ID: mdl-18252063

ABSTRACT

Autosomal recessive polycystic kidney disease (ARPKD) is one of the most common hereditary renal cystic diseases, and is caused by mutations in the PKHD1 gene. Due to the poor prognosis, there is a strong demand for prenatal diagnosis. Preimplantation genetic diagnosis (PGD) represents an alternative because it avoids the physical and emotional trauma of a pregnancy termination in the case of an affected fetus. A standardized single-cell diagnostic procedure was developed, based on haplotype analysis, enabling PGD to be offered to couples at risk of transmitting ARPKD. Six linked markers within (D6S1714 and D6S243), or in close proximity to (D6S272, D6S436, KIAA0057, D6S1662) the PKHD1 gene were tested by multiplex nested-polymerase chain reaction (PCR), using a Qiagen multiplex PCR kit. PCR analyses were carried out on 50 single lymphocytes. The amplification rate was excellent (100%), with an allele drop-out (ADO) rate ranging from 0 to 8%. Five PGD cycles were performed and 23 embryos were biopsied and analysed using this test. Transferable embryos were obtained in 4 cycles, resulting in two pregnancies and the birth of a healthy boy. This standardized diagnostic procedure allowed the detection of recombination, contamination, and ADO events, providing high assay accuracy with wide applicability.


Subject(s)
Polycystic Kidney, Autosomal Recessive/diagnosis , Polycystic Kidney, Autosomal Recessive/genetics , Preimplantation Diagnosis/methods , Prenatal Diagnosis/methods , Alleles , Female , Genetic Testing/methods , Humans , Male , Mutation/genetics , Nucleic Acid Amplification Techniques , Pedigree , Polycystic Kidney, Autosomal Recessive/etiology , Polymerase Chain Reaction , Pregnancy , Receptors, Cell Surface/genetics , Risk Factors
12.
Reprod Biomed Online ; 16(2): 250-6, 2008 Feb.
Article in English | MEDLINE | ID: mdl-18284882

ABSTRACT

In-vitro maturation of oocytes (IVM) is a new IVF technology developed in order to avoid iatrogenic complications of standard IVF treatments. This technique is particularly useful in patients suffering from polycystic ovary syndrome (PCOS) who are concerned with the risk of ovarian hyperstimulation syndrome. This technique is nowadays routinely practised in many international centres. However, the efficiency of this technique needs to be improved for a better support of maturation conditions to maximize oocyte developmental competence. In order to improve IVM results, the efficiency of two IVM media was retrospectively compared. Ninety-three PCOS candidates undergoing their first IVM cycle were included in this study, and IVM was conducted with TCM-199 or IVM-Medicult medium. This is the first study comparing two maturation media. Both media resulted in the same results concerning total oocyte maturation, fertilization, early embryo development and pregnancy rates.


Subject(s)
Culture Media/pharmacology , Embryo Culture Techniques , Oocytes/drug effects , Oogenesis/drug effects , Adult , Cells, Cultured , Culture Media/chemistry , Embryo Transfer , Female , Fertilization in Vitro , Humans , Oocytes/physiology , Pregnancy , Pregnancy Rate , Retrospective Studies
13.
J Gynecol Obstet Biol Reprod (Paris) ; 37(4): 385-91, 2008 Jun.
Article in French | MEDLINE | ID: mdl-18191913

ABSTRACT

OBJECTIVES: The aim of this study is to determine the complications of third trimester amniocentesis for fetal karyotyping among women unwilling to accept the fetal loss risks of second trimester amniocentesis. MATERIALS AND METHODS: A retrospective study was carried out from January 1998 to December 2006 of 182 singleton pregnancies that underwent a late amniocentesis (after 32 weeks) for fetal karyotyping. The indications were integrated risk (maternal age, first trimester nuchal translucency, second trimester maternal serum markers) over 1/250 (n=68), isolated maternal age over 38 years (n=51), isolated abnormal second trimester biochemical markers (n=34), history of personal or familial a chromosomal abnormality (n=21) or maternal choice (n=8). Presence of fetal abnormalities at ultrasound or context of viral or parasitologic seroconversion as well as multiple pregnancies were considered as non-inclusion criteria. RESULTS: Median maternal age and gestational age at sampling were 39 years (range 23-48) and 32.4 weeks (29.5-37.6). Median interval between amniocentesis and definitive results of amniocentesis on the one hand, and delivery on the on the hand were 15 days (7-42) and 47 days (8-69), respectively. There were no chromosomal abnormality and non-termination of pregnancy. Nine patients out of 182(5%) had a spontaneous labour followed by premature delivery before 37 weeks and six women (3.3%) among those nine displayed preterm premature rupture of membranes (PPROM). Four patients out of 182 (2%) gave birth before definitive karyotyping result but all of them had a direct fluorescence in situ hybridisation analysis with a normal karyotyping result known well before delivery. CONCLUSIONS: The risk of preterm premature rupture of membrane is 3.3%, with a 5% risk of premature delivery before 37 weeks. This late procedure provides a safe reassurance to women who are unwilling to accept the risks of earlier amniocentesis. However, it should only be used in particular situation and in countries were legislation allows late termination of pregnancy.


Subject(s)
Amniocentesis , Pregnancy Trimester, Third , Adult , Amniocentesis/adverse effects , Female , Fetal Membranes, Premature Rupture/etiology , Humans , Karyotyping , Middle Aged , Pregnancy , Premature Birth , Retrospective Studies , Risk Factors
14.
J Gynecol Obstet Biol Reprod (Paris) ; 37(3): 299-301, 2008 May.
Article in French | MEDLINE | ID: mdl-18160230

ABSTRACT

We present a rare case of prenatal diagnosis of two de novo chromosome structural rearrangements including a translocation (1;3) associated with a 22q11.2 deletion. The amniocentesis was performed because the systematic ultrasound examination revealed: right aortic cross with double aortic arch, with normal size of aorta and pulmonary artery. Our report emphasises that 22q11.2 deletion must be looked for when a fetal cardiac conotruncal malformation is diagnosed, even in the presence of another chromosomal abnormality. In prenatal diagnosis, this can have implication for patient management and genetic counselling.


Subject(s)
Chromosome Deletion , Chromosomes, Human, Pair 22 , Heart Defects, Congenital/diagnosis , Prenatal Diagnosis , Adult , Female , Genetic Testing , Heart Defects, Congenital/genetics , Humans , Pregnancy , Translocation, Genetic
15.
Am J Med Genet A ; 143A(7): 727-33, 2007 Apr 01.
Article in English | MEDLINE | ID: mdl-17330860

ABSTRACT

Trisomy for the short arm of chromosome 18 or trisomy 18p, is rarely described. We report on a 13-year-old boy with minor facial anomalies, mental retardation, bilateral cryptorchidism associated with a de novo supernumerary marker chromosome (SMC). Using fluorescence in situ hybridization and comparative genomic hybridization analyses, this SMC corresponded to the p arm of chromosome 18 associated with a centromere of either chromosome 13 or 21 and nucleolus organizing regions (NORs). We report here the first case of a pure and complete trisomy 18p due to a SMC. This report and review of literature confirm that the main phenotypic anomaly associated with trisomy 18p is moderate mental retardation.


Subject(s)
Chromosomes, Human, Pair 18 , Intellectual Disability/genetics , Trisomy , Adolescent , Child , Cytogenetic Analysis , Humans , Infant , Male
16.
Hum Reprod ; 22(4): 1052-9, 2007 Apr.
Article in English | MEDLINE | ID: mdl-17208942

ABSTRACT

BACKGROUND: Cellular and molecular mechanisms leading to elongated sperm heads are not known. We have analysed the nuclear status of spermatozoa with elongated heads. METHODS: Fourteen men with at least 30% of spermatozoa with an elongated nucleus were studied and compared with five fertile men as controls. Sperm morphology was analysed by a quantitative ultrastructural analysis. Sperm chromosomal content was assessed by three-colour fluorescence in-situ hybridization (chromosomes X, Y, 18). Y chromosome microdeletion and karyotype were analysed. RESULTS: Elongated sperm head rates of the patients were 46.9% (30-75 versus 0-2% in the control group) by light microscopy and 34.4% by electron microscopy. In all patients, the chromatin was poorly condensed in elongated sperm heads (50% of elongated nuclei). No anomalies of sperm biochemical markers were found. All the men showed normal karyotype (46,XY) and absence of Y chromosome microdeletion. Aneuploidy rates of gonosomes and chromosome 18 were significantly increased in patients (1.64- and 3.6-fold, P = 0.006 and 0.026, respectively). CONCLUSIONS: This study demonstrates that impaired chromatin compaction and slightly increased chromosome aneuploidies are found in spermatozoa with an elongated head, suggesting possible mechanisms such as meiotic non-disjunctions or spermiogenesis anomalies.


Subject(s)
Aneuploidy , Cell Nucleus/ultrastructure , Chromosomes/ultrastructure , Infertility, Male/diagnosis , Infertility, Male/genetics , Spermatozoa/pathology , Cell Survival , Chromosome Aberrations , Gene Deletion , Humans , In Situ Hybridization , In Situ Hybridization, Fluorescence , Infertility, Male/therapy , Karyotyping , Male , Microscopy, Electron , Sex Chromosomes , Spermatozoa/ultrastructure
17.
Am J Med Genet A ; 140(21): 2324-9, 2006 Nov 01.
Article in English | MEDLINE | ID: mdl-17022077

ABSTRACT

We report on a female infant presenting with psychomotor retardation and facial dysmorphism. Cytogenetic studies showed an abnormal chromosome 14 with ectopic NOR sequences at the extremity of the long arm with a terminal 14q32.33 deletion. Review of the eight cases with pure terminal 14q32.3 deletions described to date documented that our observation is the smallest terminal 14q deletion ever reported. Thus, genotype-phenotype correlation allows us to delimit the critical region for mental retardation, hypotonia, epi-telecanthus, short bulbous nose, long philtrum, thin upper lip, and small mouth observed in 14 qter deletions to the subtelomeric 1.6 Mb of chromosome 14.


Subject(s)
Chromosome Deletion , Chromosomes, Human, Pair 14/genetics , Brain/abnormalities , Child, Preschool , Craniofacial Abnormalities/genetics , Cytogenetics , Female , Genotype , Humans , In Situ Hybridization, Fluorescence , Infant , Intellectual Disability/genetics , Muscle Hypotonia/genetics , Myopia/genetics , Phenotype
18.
Mol Hum Reprod ; 12(10): 647-52, 2006 Oct.
Article in English | MEDLINE | ID: mdl-16896070

ABSTRACT

We report an improvement in the PGD test for fragile X syndrome (FXS). Recently, multiple displacement amplification (MDA) has been reported to yield large amounts of DNA from single cells. Taking into account this technique, we developed a new PGD test for FXS, enabling combined analysis of linked polymorphic markers with the study of the non-expanded CGG repeat. Single cell amplification efficiency was first assessed on single lymphocytes. Amplification rate of the different markers ranged from 85 to 95% with an allele drop-out (ADO) rate comprised between 7 and 34%. Using this test, eight PGD cycles were carried out for six couples, and 37 embryos were analysed after preliminary MDA. Amplification rate was increased by this technique from 41 to 66% so that embryos with no results were rarer (14 versus 45% without MDA). Reliability of the test was considerably improved by combining direct with indirect genetic analysis. Furthermore, in cases of fully expanded alleles too large to be amplified by PCR, this test gives an internal amplification control. Embryonic transfers were carried out in all but one PGD cycles. One biochemical and one clinical pregnancy resulted, and a healthy child was born. This single diagnosis procedure could be suitable to most patients carrying FXS.


Subject(s)
Fragile X Syndrome/diagnosis , Polymerase Chain Reaction , Preimplantation Diagnosis/methods , DNA Mutational Analysis , Female , Fragile X Mental Retardation Protein/genetics , Fragile X Syndrome/blood , Fragile X Syndrome/genetics , Humans , Polymerase Chain Reaction/methods , Pregnancy , Reproducibility of Results , Sensitivity and Specificity
19.
J Gynecol Obstet Biol Reprod (Paris) ; 35(4): 356-72, 2006 Jun.
Article in French | MEDLINE | ID: mdl-16940905

ABSTRACT

OBJECTIVE: To report the results of preimplantation genetic diagnosis (PGD) cycles performed in our unit from 2000 to 2004. Materials and methods. One hundred and seventy-one couples were enrolled in the PGD program over this period. The collected oocytes were inseminated by intracytoplasmic sperm injection (ICSI). The resulting embryos were biopsied on the third day of development and the genetic analysis was performed on the same day. Embryo transfers were carried out on the fourth day. RESULTS: The 416 stimulation cycles started yielded 280 oocyte pick-ups, 3506 oocytes retrieved, of which 2966 were suitable for ICSI. Among the 1982 embryos obtained, 1337 embryos were biopsied and genetic diagnosis was performed for 1083 (81%) of them. 381 embryos were transferred during the course of 189 transfer procedures. There were 51 clinical and 46 ongoing (35 single, 11 twin) pregnancies. In addition, 25 frozen embryo replacement cycles were initiated, leading to 6 embryo transfers and 1 ongoing pregnancy. A total of 58 unaffected children were born. CONCLUSION: PGD has gained a place among the choices offered to couples at risk of transmission of a serious and incurable genetic disease. It might be a realistic alternative to prenatal diagnosis for patients carrier of chromosomal rearrangements, single gene defects, X-linked disesases or mitochondrial DNA disorders.


Subject(s)
Cytogenetic Analysis , Embryo Transfer , Genetic Testing/methods , Preimplantation Diagnosis/methods , Adult , Female , Fertilization in Vitro , Genetic Counseling , Humans , In Situ Hybridization, Fluorescence , Male , Polymerase Chain Reaction , Pregnancy , Pregnancy Outcome , Sperm Injections, Intracytoplasmic/methods
20.
Ultrasound Obstet Gynecol ; 28(2): 229-31, 2006 Aug.
Article in English | MEDLINE | ID: mdl-16933282

ABSTRACT

A peculiar subtype of holoprosencephaly, middle interhemispheric variant (MIH), which is characterized by a partial posterior interhemispheric fusion of the brain, has been described in children. We describe the features of a case of a possible new MIH at 26 weeks of gestation, diagnosed using prenatal sonography and magnetic resonance imaging and confirmed by postmortem examination. This malformation of the brain was associated with an unusual appearance of the corpus callosum and rare chromosomal abnormality: a 45X/46,XX/47,XX,+ 18 mosaicism.


Subject(s)
Holoprosencephaly/diagnosis , Prenatal Diagnosis/methods , Abortion, Induced , Agenesis of Corpus Callosum , Chromosomes, Human, Pair 18/genetics , Female , Holoprosencephaly/classification , Holoprosencephaly/genetics , Humans , Magnetic Resonance Imaging , Mosaicism , Pregnancy , Sex Chromosome Aberrations , Ultrasonography, Prenatal
SELECTION OF CITATIONS
SEARCH DETAIL
...