Placental weight in pregnancies with trisomy confined to the placenta.

Objective: Mosaicism with trisomy confined to the placenta is present in ~1% of ongoing pregnancies at the time of chorionic villus sampling. Some studies have found reduced fetal growth in confined placental trisomy. The objective of this study was to assess placental weight and feto-placental weight ratio in pregnancies with trisomy confined to the placenta, and to correlate them with the level of trisomy in the three major placental lineages.

Postnatal follow-up of prenatally diagnosed trisomy 16 mosaicism.

Objective: To determine the long-term outcome of pregnancies prenatally diagnosed with trisomy 16 and identify variables associated with the outcome.

Methods: We reviewed all published and our unpublished data from trisomy 16 pregnancies for which outcomes were available for children of greater than 1 year of age.

Results: Nineteen cases were diagnosed with trisomy 16 on chorionic villus sampling (CVS) and 17 cases at amniocentesis.

Frequency of chromosomal abnormalities in spontaneous abortions derived from intracytoplasmic sperm injection compared with those from in vitro fertilization.

No statistical difference was found for the total aneuploidy rate in the spontaneous abortions between intracytoplasmic sperm injection and IVF groups; however, differences in the distribution of chromosomal abnormalities between the two groups were seen.

Abnormal embryonic development diagnosed embryoscopically in early intrauterine deaths after in vitro fertilization: a preliminary report of 23 cases.

Objective: To provide data about the phenotypic appearance of the embryo of early failed pregnancies after IVF.

Design: Clinical prospective descriptive study.

Setting: Tertiary care center.

Allogeneic bone marrow transplantation for children with acute myelocytic leukemia in first remission demonstrates a role for graft versus leukemia in the maintenance of disease-free survival.

In Children's Cancer Group (CCG) study 2891, patients who were recently diagnosed with acute myelocytic leukemia (AML) were assigned randomly to standard- or intensive-timing induction chemotherapy. Patients in first complete remission (CR1) and who had a human leukocyte antigen (HLA)-identical, related donor or a donor disparate at a single class I or II locus were nonrandomly assigned to receive a bone marrow transplant (BMT) by using oral busulfan (16 mg/kg) and cyclophosphamide (200 mg/kg). Methotrexate only was given for graft-versus-host disease (GVHD) prophylaxis.

Morphology of the 45,X embryo: an embryoscopic study.

The morphology of monosomy X in embryos was documented by means of transcervical embryoscopy prior to evacuation in 24 cases of missed abortion. The embryos ranged in size from 13 mm to 26 mm CRL and were all developed beyond the sixth week of development. The embryonic phenotype varied from nearly normal to obviously abnormal with a combination of localized external developmental defects consisting of microcephaly, facial dysplasia, and retarded limb development.

Loss of 1p and 7p in radiation-induced meningiomas identified by comparative genomic hybridization.

Cytogenetic and molecular studies of radiation-induced meningiomas (RIM) are rare and controversial. While comparative genomic hybridization (CGH) analysis identified monosomy 22 as the predominant change in RIM, occurring in frequencies comparable to those found in spontaneous meningioma (SM), molecular genetic analysis shows infrequent loss of chromosome 22 DNA markers. We have performed CGH analysis of six additional cases of RIM and detected an unbalanced genome in five of 6 cases.

Origin of amnion and implications for evaluation of the fetal genotype in cases of mosaicism.

Objective: To investigate presence of trisomy in amniotic epithelium (uncultured amnion) and mesenchyme (cultured amnion) from mosaic cases to understand the origins of these tissues and their relationship to pregnancy outcome.

Methods: Polymerase chain reaction (PCR) of microsatellite loci was used to determine the presence of trisomy (of meiotic origin only) in amnion samples from 33 placentas previously ascertained because of a prenatal diagnosis of trisomy mosaicism that was predominantly confined to the placental tissues.

Results: In 16 (48%) of 33 cases, trisomy was confirmed to be present by molecular analysis of uncultured amnion.

Molecular cytogenetics in reproductive pathology.

This chapter presents the summary of two molecular cytogenetic techniques--FISH and CGH--with their applications and limitations in the studies of pregnancy loss. These molecular techniques clearly represent a significant advantage over the traditional cytogenetic technique and likely will become the predominant cytogenetic techniques in reproductive cytogenetics of the future.

Generalized abnormal embryonic development in missed abortion: embryoscopic and cytogenetic findings.

A direct view of the embryo by means of transcervical embryoscopy prior to evacuation in 154 cases of missed abortion showed general embryonic maldevelopment in 48 cases (31%). A successful cytogenetic evaluation of these growth-disorganized embryos was performed in 37. Chromosomal abnormalities were found in 26 cases (70%), with autosomal trisomies in 24 cases (92%).

Interphase fluorescence in situ hybridization and DNA flow cytometry analysis of medulloblastomas with a normal karyotype.

Interphase fluorescence in situ hybridization (FISH) with chromosome 3 and 17 centromeric probes and DNA flow cytometry were used for a retrospective study of nine pediatric medulloblastomas with normal karyotypes after tissue culture. The FISH analysis of medulloblastoma touch preparations showed that in seven of nine tumors, a significant proportion of nuclei had an increased number of centromeric signals for the selected chromosomes. In six of seven cases, this increase was caused by the presence of triploid and tetraploid clones as established by flow cytometry of paraffin-embedded tumors.

Neural tube defects in missed abortions: embryoscopic and cytogenetic findings.

Transcervical embryoscopy, a new technique for direct visualization of the first trimester conceptus was carried out in 116 cases of missed abortion. Embryonic neural tube defects and other localized developmental defects, were diagnosed in 10 out of 99 cases in which a complete embryoscopic evaluation was possible. All eight successfully karyotyped cases had a numerical chromosomal abnormality.