D Molina Gomes

Publications (28)56.6 Total impact

• Article: Fetal karyotyping after 28 weeks of gestation for late ultrasound findings in a low risk population.

  C L Drummond, D Molina Gomes, M V Senat, F Audibert, A Dorion, Y Ville
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  ABSTRACT: To analyze the indications and the results of invasive testing for fetal karyotyping for ultrasound abnormality in the third trimester of pregnancy, when first- and second-trimester screening tests were negative. Retrospective study of 171 consecutive pregnancies that underwent invasive testing after 28 weeks of gestation in 2 institutions between January 1999 and December 2001. Forty-one patients did not have any form of screening for fetal aneuploidy beforehand. One hundred and thirty of them had a normal first-trimester scan and a low risk of fetal aneuploidy by nuchal translucency and/or maternal serum screening and were included in the statistical analysis. Mean maternal age, gestational age at diagnosis and at invasive testing were 30.5 years; 29.3 weeks and 32.5 weeks respectively. Amniocentesis and fetal blood sampling were performed in 97 and 33 cases respectively. The most frequent indications for invasive testing in the third trimester were major fetal malformations (51%) and intrauterine growth restriction (19%) detected on routine second- or third-trimester ultrasound examination. Ultrasound markers of aneuploidy and polyhydramnios accounted for 17 and 11% of the indications respectively. Fetal karyotype was normal in 121/130 cases. A gene mutation was found in one case. The karyotype was abnormal in nine cases, including seven cases of aneuploidy (one Turner syndrome, three trisomy 18, and three trisomy 21) and two cases of structural chromosomal abnormalities (46,XX, del 4 p16.1 and 46,XX, dup1). One hundred cases resulted in the delivery of a normal baby. Thirty cases led to termination of pregnancy or intrauterine death due to major fetal malformations (N = 25), abnormal karyotype in six of these, and severe IUGR (N = 5) with normal karyotype. Fetal US markers of aneuploidy and isolated polyhydramnios were associated with a favorable outcome in all cases.A significant increase in the risk of chromosomal anomaly was seen when two or more anomalies were found, rising from 2% with one anomaly to 21% when two or more anomalies were present. In low risk patients, fetal karyotyping in the third trimester may be justified when the diagnosis of fetal malformation is made in the third trimester of pregnancy. Two or more anomalies increase the risk of fetal aneuploidy even with a negative-screening test in the first and second trimester of pregnancy.
  Prenatal Diagnosis 01/2004; 23(13):1068-72. · 2.11 Impact Factor
• Article: Abnormal methylation does not prevent X inactivation in ICF patients.

  D Bourc'his, P Miniou, M Jeanpierre, D Molina Gomes, J Dupont, G De Saint-Basile, P Maraschio, L Tiepolo, E Viegas-Péquignot
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  ABSTRACT: DNA undermethylation is a characteristic feature of ICF syndrome and has been implicated in the formation of the juxtacentromeric chromosomal abnormalities of this rare syndrome. We have previously shown that in female ICF patients the inactive X chromosome (Xi) is also undermethylated. This result was unexpected since female ICF patients are not more severely affected than male patients. Here we show that CpG island methylation is abnormal in some ICF patients but in other ICF patients, the difference in methylation pattern between Xi and Xa (active X) is maintained. The consequences of Xi undermethylation on gene expression were investigated by enzyme assays. They showed that significant gene expression did not correlate with CpG island methylation status. The widespread Xi undermethylation does not affect overall Xi replication timing and does not prevent Barr body formation suggesting that a normal methylation pattern is not required for normal chromatin organization of Xi. Molecular investigation of some X-chromosome intron regions showed that the methylation changes in ICF female patients extend to non CpG islands sequences. Our results suggest that the genetic alteration of DNA methylation in ICF syndrome has little consequence on X chromosome gene expression and chromatin organization.
  Cytogenetics and cell genetics 02/1999; 84(3-4):245-52.
• Article: cDNA cloning, tissue distribution and chromosomal localization of the human ID4 gene.

  M Rigolet, T Rich, M S Gross-Morand, D Molina-Gomes, E Viegas-Pequignot, C Junien
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  ABSTRACT: A cDNA e encoding the human Id4 protein has been isolated from an astrocytoma library. The predicted protein product shares 98% identity with the mouse Id4 protein and is markedly different from that already reported. By FISH analysis, the human ID4 gene was more precisely mapped to chromosome 6p22.3-p23. Northern blot analysis showed that ID4 is mainly expressed in thyroid, brain and fetal tissue and in some nervous system tumor cell lines.
  DNA Research 11/1998; 5(5):309-13. · 5.16 Impact Factor
• Article: Undermethylation of Alu sequences in ICF syndrome: molecular and in situ analysis.

  P Miniou, D Bourc'his, D Molina Gomes, M Jeanpierre, E Viegas-Péquignot
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  ABSTRACT: The methylation status of young Alu sequences was investigated in four ICF patients. In fibroblast and leukocyte DNAs, Alu repeats were either undermethylated (HhaI and HpaII digestion) or demethylated (BstUI digestion), in contrast with the methylated status of Alus in control subjects. The methylation profile exhibited in ICF patients reproduces the normal profile of placental or sperm DNA. High-sensitivity immunocytochemical detection of HhaI and HpaII restriction sites on metaphase chromosomes provided further evidence of this undermethylation. The DNA methylation defect in ICF patients, first detected in satellite DNAs (constitutive heterochromatin) and CpG islands of genes on the inactive X chromosome (facultative heterochromatin), thus includes Alu sequences that are widely distributed throughout the human genome.
  Cytogenetics and cell genetics 02/1997; 77(3-4):308-13.
• Source

  Available from: Denis Le Paslier

  Article: Structure and physical mapping of DR1, a TATA-binding protein-associated phosphoprotein gene, to chromosome 1p22.1 and its exclusion in Stargardt disease (STGD).

  J M Rozet, S Gerber, I Perrault, A Camuzat, P Calvas, E Viegas-Pequignot, D Molina-Gomes, D Le Paslier, I Chumakov, A Munnich, J Kaplan
  Genomics 10/1996; 36(3):554-6. · 3.02 Impact Factor
• Article: Parental origin and mechanisms of formation of three cases of 12p tetrasomy.

  C Turleau, B Simon-Bouy, E Austruy, M C Grisard, F Lemaire, D Molina-Gomes, J P Siffroi, J Boué
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  ABSTRACT: Pallister-Killian syndrome is a clinically recognizable syndrome characterized by tissue-limited mosaicism for an extra 12p isochromosome. Very little is known about the underlying mechanism of this rare rearrangement. Microsatellite markers were studied from three fetuses with Pallister-Killian syndrome and their parents to determine the parent of origin and the cell division yielding the additional isochromosome. In two cases the isochromosome contained the same allele(s) as a normal transmitted chromosome 12, one paternal and one maternal in origin. A third case showed inheritance of two different maternal alleles, indicating that at least one meiotic error was involved in the ultimate formation of the extra isochromosome.
  Clinical Genetics 08/1996; 50(1):41-6. · 3.13 Impact Factor
• Article: The OXA1L gene that controls cytochrome oxidase assembly maps to the 14q11.2 region of the human genome.

  D Molina-Gomes, N Bonnefoy, V C Nguyen, E Viegas-Péquignot, A Rötig, G Dujardin
  Genomics 12/1995; 30(2):396-8. · 3.02 Impact Factor
• Article: [Psychological assistance for men with failures of procreation: look out for the secret wound!].

  M Jaoul, D Molina Gomes, M Albert, M Bailly, M Bergere, J Selva
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  ABSTRACT: When one thinks of the failures of ART one naturally thinks of the suffering that they generate; but behind this pain, there is the suffering of infertility and, behind this latter, other distress we showed at the time of a recent research that they could play a part in infertility itself. The psychotherapy will help assume the failures, so that the traumatisms do not come to solidify in an impossible mourning, covering non elaborate former grieves. A sublimation of the desire of reproduction can make it possible for the unfertile man to peacefully consider other forms of paternity. For it to be possible, it is necessary that the subject should not be in the refusal of the psychic effraction, which the announcement of its infertility produces. When it is the case, to put on the couple on psychological assistance may help to restore a share of the narcissistic wounds; more particularly the one related to the suffering of the couple that often comes to be added to the wound of infertility.
  Gynécologie Obstétrique & Fertilité 37(11-12):921-5. · 0.52 Impact Factor