Anatomic and chromosomal anomalies in 639 spontaneous abortuses

  title={Anatomic and chromosomal anomalies in 639 spontaneous abortuses},
  author={Tadashi Kajii and Ariane Ferrier and Norio Niikawa and Hiroyuki Takahara and Koso Ohama and Sugandhi Avirachan},
  journal={Human Genetics},
SummaryA total of 639 spontaneous abortuses collected in a maternity hospital were set up in culture. This sample included 565 unselected consecutive abortuses and 74 selected abortuses ascertained by morphology and/or clinical history. Among these, 339 were incomplete specimens with no recovered embryo or fetus, 110 were anatomically apparently normal and 190 were grossly abnormal. In the unselected series, 565 specimens were cultured and 402 were karyotyped; 215 (53.5%) were chromosomally… 

A cytogenetic study directly from chorionic villi of 140 spontaneous abortions

Spontaneous abortions were studied by analyzing chromosomes directly from chorionic villi to investigate whether failures associated with X inactivation are responsible for pregnancy wastage of some euploid female conceptuses and knowledge of the karyotypes may serve as a prerequisite for the investigation of non-chromosomal genetic causes ofregnancy wastage.

The predictive value of chorionic villus histology for identifying chromosomally normal and abnormal spontaneous abortions

The predictive value of chorionic villus histology seems to be inadequate, as only 62 of 112 samples were correctly classified by histology (55.4%).

Cytogenetic studies in spontaneous abortuses

A negative relationship is suggested between frequency of monsomy X and autosomal trisomy, both being associated with maternal age, and a non-random series is suggested.

The clinical use of karyotyping spontaneous abortions.

Karyotyping of spontaneous losses in the first trimester beginning with the patient's second loss provides clinically important etiologic information and decreases the number of evaluations necessary for recurrent pregnancy loss.

Double trisomy in spontaneous miscarriages: cytogenetic and molecular approach.

The results of the experience with 517 SA are reported, establishing parental origin and cell stage of non-disjunction when possible in DT cases, and making a revision of those previously reported.

Cytogenetic Analysis of Spontaneous Miscarriages Using Long-Term Culturing of Chorionic Villi

The results confirmed previous findings that older Japanese women with spontaneous miscarriages have a higher rate of chromosomal abnormalities, and identified a rare form of polyploidy 94,XXYYYY.

Outcome of fetuses with Turner syndrome: a 10-year congenital anomaly register based study

  • N. IyerD. TuckerS. RobertsM. MoselhiM. MorganJ. Matthes
  • Medicine
    The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians
  • 2012
Termination was the most common outcome of fetuses diagnosed antenatally with Turner syndrome, which has modified the natural history of Turner syndrome particularly in cases with Mosaic karyotype.

Optimizing the Diagnostic Strategy to Identify Genetic Abnormalities in Miscarriage

Although conventional karyotyping and FISH are still needed, SNP-array represents the first choice for miscarriage because the technique showed excellent performance in the detection of genetic abnormalities and minimized the probability of testing failure as well as time, costs, and labor.

Abordagem citogenética e molecular em material de abortos espontâneos

Molecular biology techniques (PCR and FISH) complemented the cytogenetic study and proved to be reliable in the detection of numerical chromosomal anomalies and in fetal sex determination.

On the significance of true trisomy 20 mosaicism in amniotic fluid culture

A review of the hitherto known cases of prenatally detected mosaic T20 indicates a relationship between the prenatal findings and the fetal development, which may serve as a provisory basis for genetic counselling.



Anatomic and chromosomal anomalies in 944 induced abortuses

A total of 944 induced abortuses, 922 of which apparently were anatomically normal and 22 of which were anatomic abnormal, were set up in culture, and there was complete karyotypic agreement between the two tissues.

Cytogenetics of aborters and abortuses.


A cytogenetic study of human spontaneous abortions using banding techniques

The karyotypes of 941 singleton and 42 twin abortuses and 4 cystic placentae were determined and an attempt was made to relate the karyotype of the conceptus to its subsequent development.

Banding analysis of abnormal karyotypes in spontaneous abortion.

The present preliminary report will deal with the result of trypsin banding analysis among 82 heteroploid specimens derived from 152 karyotyped abortuses.

Recent Advances in the Cytogenetic Study of Human Spontaneous Abortions

A cytogenetic study of 27 spontaneous abortions was carried out using the Q-banding technic, and it was found that the extra haploid set was paternally derived in two of the triploids which were favorable for study.

A cytogenetic study of spontaneous abortions in Hawaii

It appears, on present evidence, that neither geographic location nor racial group affects the frequency of chromosome abnormalities seen among human spontaneous abortions.

Incidence of chromosome aberrations among 11 148 newborn children

More chromosome studies of liveborn children are needed for several purposes such as finding families with chromosome translocations, studying segregation rates and giving genetic advice to families with inheritable chromosome aberrations.

Origin of acrocentric trisomies in spontaneous abortuses

The abortus with mosaic trisomy 22 started as a 22-trisomic zygote resulting from an error at maternal first meiosis, followed by a mitotic (in vivo or in vitro) loss of the paternally derived chromosome 22.

Recent advances in the cytogenetic study of human spontaneous abortions.

The Q-binding technique can accurately identify the parental source of the extra haploid set in triploids when favorable markers are present in the parents.