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At least 19 recordsLinked to original sources
PubMed2025

Analysis of prenatal diagnosis and pregnancy outcomes for rare autosomal trisomies detected by non-invasive prenatal testing in 33,079 cases.

BACKGROUND: Non-invasive prenatal testing is widely used for screening common fetal aneuploidy disorders such as trisomy 21, trisomy 18, and trisomy 13. However, its ability to detect rare autosomal trisomies has introduced a new layer of complexity and clinical uncertainty. METHODS: A retrospective analysis was conducted on the prenatal diagnostic results and pregnancy outcomes of cases identified as high-risk for rare autosomal trisomies through non-invasive prenatal testing at the reproductive medicine center, Renmin hospital, Hubei university of medicine, from 2015 to 2023. RESULTS: 66 cases identified as high-risk for rare autosomeal trisomies, yielding a detection rate of 0.20% (66/33,079). 7 declined amniocentesis, while the others underwent the procedure. Prenatal diagnostic procedures did not confirm the presence of the corresponding rare autosomal trisomy in any of these cases. Among the 66 cases of rare autosomal trisomies (RATs), 5 cases were lost to follow-up, and 1 case underwent termination of pregnancy (TOP) for personal reasons, leaving 60 cases with valid pregnancy outcomes. Of these 60 valid outcomes, 50 (83.33%) resulted in full-term births, while 10 (16.67%) experienced adverse pregnancy outcomes. CONCLUSION: Prenatal diagnosis for high-risk rare autosomal trisomies typically reveals a normal karyotype with no detectable chromosomal abnormalities, and most cases can achieve full-term pregnancy outcomes. However, adverse pregnancy outcomes such as preterm birth, fetal demise, placental abnormalities, and intrauterine growth restriction are common and should be given clinical attention and consideration.

Humans↗
PubMedDate not supplied

Maternal uniparental disomy 14 dissection of the phenotype with respect to rare autosomal recessively inherited traits, trisomy mosaicism, and genomic imprinting.

The phenotype of maternal uniparental disomy of chromosome 14 (upd(14)mat) is characterized by pre and postnatal growth retardation, early onset of puberty, joint laxity, motor delay, and minor dysmorphic features of the face, hands, and feet. Based on a clinical analysis of 24 cases extracted from the literature the phenotype of upd(14)mat was dissected with respect to each symptom's most likely primary causative: trisomy mosaicism, rare autosomal recessively inherited traits, and the impact of known imprinted genes located on chromosome 14q32. As a result, primary factors are confined placental mosaicism for prenatal growth retardation and one or more imprinted genes, which contribute to the reduced final height by accelerated skeletal maturation. As a secondary effect the latter might also cause early onset of puberty. Other secondary effects might be postnatal adaptation problems associated with neurological deficits such as muscular hypotonia due to premature delivery and reduced birthweight and most dysmorphic features as a consequence of subtle skeletal abnormalities and muscular hypotonia. Considering the rarity of traits such as cleft palate, trisomy mosaicism in the fetus is more likely causative than homozygosity of autosomal recessively inherited mutations. Totally, the variable phenotype of upd(14)mat is mainly the consequence of trisomy mosaicism and genomic imprinting. Rare traits might be due to homozygosity of autosomal recessively inherited mutations.

Abnormalities, Multiple↗
PubMed1975

Prenatal diagnosis of trisomy 9.

A male karyotype with trisomy 9 (47,XY,+9) was identified in amniotic fluid cells from a 40-year-old pregnant woman. After termination of the pregnancy by saline abortion, the cytogenetic diagnosis was confirmed in a cell line grown from placental tissue. Microscopic and gross pathological findings in the fetus were compared to 1 case with trisomy 9 and 3 with trisomy 9 mosaicism reported in the literature. A distinct clinical syndrome appears to be associated with this rare autosomal trisomy.

Adult↗
PubMed1997

Rare trisomy mosaicism diagnosed in amniocytes, involving an autosome other than chromosomes 13, 18, 20, and 21: karyotype/phenotype correlations.

In order to determine the significance of trisomy mosaicism of an autosome other than chromosomes 13, 18, 20, and 21, 151 such cases diagnosed prenatally through amniocentesis were reviewed. These rare trisomy mosaicism cases include 54 from 17 cytogenetic laboratories, 34 from a previous North American mosaicism survey, and 63 from published reports. All were cases of true mosaicism with information available on pregnancy outcome, and with no evidence of biased ascertainment. There were 11 cases of 46/47, +2; 2 of 46/47, +3; 2 of 46/47, +4; 5 of 46/47, +5; 3 of 46/47, +6; 8 of 46/47, +7; 14 of 46/47, +8; 25 of 46/47, +9; 2 of 46/47, +11; 23 of 46/47, +12; 5 of 46/47, +14; 11 of 46/47, +15; 21 of 46/47, +16; 7 of 46/47, +17; 1 of 46/47, +19; and 11 of 46/47, +22. As to the risk of an abnormal outcome, the data showed a very high risk (> 60 per cent) for 46/47, +2, 46/47, +16, and 46/47, +22; a high risk (40-59 per cent) for 46/47, +5, 46/47, +9, 46/47, +14, and 46/47, +15; a moderately high risk (20-39 per cent) for 46/47, +12; a moderate risk (up to 19 per cent) for 46/47, +7 and 46/47, +7 and 46/47, +8; a low risk for 46/47, +17; and an undetermined risk, due to lack of cases, for the remaining autosomal trisomy mosaics. Most cases were evaluated at birth or at termination, so subtle abnormalities may have escaped detection and developmental retardation was not evaluated at all. Comparison of the phenotypes of prenatally diagnosed abnormal cases and postnatally diagnosed cases with the same diagnosis showed considerable concordance. Since the majority of anomalies noted are prenatally detectable with ultrasound, an ultrasound examination should be performed in all prenatally diagnosed cases. In cytogenetic confirmation studies, the data showed much higher confirmation rates in cases with abnormal outcomes than in cases with normal outcomes [81 per cent vs. 55 per cent for fibroblasts (from skin, fetal tissue, and/or cord); 88 per cent vs. 46 per cent for placental cells; 22 per cent vs. 10 per cent for blood cells]. The confirmation rate reached 85 per cent when both fibroblasts and placental tissues were studied in the same case (with trisomic cells found in one or the other, or both). Therefore, one must emphasize that both fibroblasts and placental tissues should be studied. Except for 46/47, +8 and 46/47, +9, PUBS is of limited value for prenatal diagnosis of rate trisomy mosaicism. DNA studies for UPD are suggested for certain chromosomes with established imprinting effects, such as chromosomes 7, 11, 14, and 15, and perhaps for chromosomes 2 and 16, where imprinting effects are likely.

Adolescent↗
PubMed1976

On the origin of the supernumerary chromosome in autosomal trisomies--with special reference to Down's syndrome. A bias in tracing nondisjunction by chromosomal and biochemical polymorphisms.

The differential staining methods for chromosomes have led to the demonstration of more chromosomal polymorphisms. Not rarely, these polymorphisms allow in autosomal trisomies the detection of parental origin of the supernumerary chromosome. In addition, the malsegregation may be ascribed to 1st or 2nd meiotic division in informative families. This approach of analyzing possible causes of trisomies is subject to a considerable bias. Trisomic phenotypes are twice as frequent for 2nd meiotic errors than for 1st meiotic errors. Also, rare chromosome variants seldom occur in matings where malsegregation in 1st meiotic division can be detected. In the present paper this bias is analyzed mathematically on the family as well as on the population level. From this mathematical analysis and from the data in the literature we conclude that Down's syndrome as a whole is caused about 5-10 times more often by a malsegregation in 1st meiotic than by an error in 2nd meiotic division. Mainly from experimental studies in rodents, causes for errors in 1st and 2nd meiotic division are becoming apparent. They are summarized in the context of the results of the present paper.

Down Syndrome↗
PubMed2005

Pigmentary mosaicism following the lines of Blaschko in a girl with a double aneuploidy mosaicism: (47,XX,+7/45,X).

We report on a 6-year-old girl with linear streaks of apparent hypopigmentation and hyperpigmentation following the Blaschko lines, growth retardation, bupthalmos of the left eye, and mild mental retardation. She had a 45,X karyotype in lymphocytes. In cultured fibroblasts a double aneuploidy mosaicism was detected, consisting of a cell line with trisomy for chromosome 7 and a cell line with monosomy for the X-chromosome and no cell line with a normal karyotype. Cutis tricolor or three levels of pigmentation in different skin areas suggested presence of a third, probably normal cell line. Double aneuploidy mosaicism of a cell line with monosomy X and a cell line with trisomy of an autosome is a rare finding. The combination of monosomy X with trisomy of chromosomes 8, 10, 13, 18, and 21 has been reported, but not the combination with trisomy 7. In the 45,X cell line, microsatellite analysis showed loss of the maternal X-chromosome, and presence of a maternal and paternal chromosome 7. The 47,XX,+7 cell line showed a paternal and a maternal X-chromosome, and a paternal and two identical maternal chromosomes 7. Mechanisms that might explain this double aneuploidy mosaicism are discussed.

Aneuploidy↗
PubMed1983

[Association of trisomy 21 and gonosomal trisomy. Apropos of 2 cases].

The existence of double autosomal trisomy is exceptional in a newborn child: --Down syndrome and trisomy 18. --Down syndrome and trisomy 13. On the other hand, the association of an autosomal trisomy, generally Down syndrome with gonosomal trisomy, is less rare with an extra X (triplo X, Klinefelter) or an extra Y. The association of Down syndrome with Turner XO syndrome (autosomal gonosomal association) doesn't insert in the subject, and has been described only once in the literature.

Child↗
PubMed1979

[Ophthalmologic symptoms in trisomy 22 (author's transl)].

After a brief description of the ophthalmological findings in the autosomal trisomies, a case of the extremely rare trisomy 22 is reported. Ophthalmological abnormalities seen were hypertelorism, epicanthus, antimongoloid slant, microphthalmus, microcornea, persistent pupillary membrane, lens opacities and chorioretinal colobomata.

Chromosomes, Human, 21-22 and Y↗
PubMed2003

[Molecular cytogenetic characteristics of chromosome imbalance in cells of spontaneous human abortion fetuses with low proliferative activity in vitro].

Karyotyping of noncultivated cells of 60 first-trimester spontaneous abortions (blighted ova and missed abortions) was carried out using fluorescence in situ hybridization (FISH) with centromere-specific DNA probes for all chromosomes of the karyotype. Conventional cytogenetic study of these abortions was impossible because of cell culture failures. The algorithm is proposed for molecular cytogenetic FISH analysis of interphase karyotypes. Chromosome abnormalities were found in 32 fetuses (53.3%). In groups of missed abortions and blighted ova, the frequency of numerical chromosome abnormalities was 50 and 60%, respectively. Both the numerical chromosome abnormalities typical of spontaneous human abortions (autosomal trisomies, sex chromosome aneuploidy, and polyploidy) and a relatively rare type of genomic imbalance unidentifiable by standard cytogenetic analysis (autosomal monosomies 7, 15, 21, and 22 in mosaic state) were observed. The frequency of these type of chromosome abnormalities comprised 19% of all known karyotype abnormalities determined in spontaneously perished embryos. Note that the level of confined placental mosaicism in embryos with low cell proliferative activity was 25%, which is substantially higher than the corresponding parameter (1-2%) determined by prenatal diagnosis of chromosome abnormalities in developing embryos. The results of interphase FISH analysis of cells with low proliferative activity in vitro suggest that the pathology of early fetal development and missed abortion in humans are associated with a wider spectrum of chromosome abnormalities.

Abortion, Spontaneous↗
PubMed1998

Trisomy 15 associated with loss of the Y chromosome in bone marrow: a possible new aging effect.

Trisomy 15 as a single autosomal abnormality is a rare finding in hematological disorders and has not as yet been associated with any specific disease type. We report 20 cases of trisomy 15 observed in the bone marrow of patients referred for a suspected hematological malignancy. Most patients were elderly, and a marked male predominance was evident. Aneuploidy for the Y chromosome was observed in addition to +15 in 11 out of 15 male patients. A myelodysplastic disorder (MDS) was confirmed in six cases, and acute myeloid leukemia (AML) in one. There was no evidence of malignant hematological diseases in the remaining 13 patients. We propose that there may be an association between loss of the Y chromosome and trisomy 15 and that trisomy 15, like missing Y, may not always be a marker of malignancy, but may reflect an underlying age effect. The possibility that its presence may herald the development of a malignant condition cannot, however, be excluded.

Adult↗
PubMed1998

Trisomy 2q11.2-->q21.1 resulting from an unbalanced insertion in two generations.

In this communication, we describe two cases of proximal 2q trisomy (2q11.2--> q21.1) resulting from an interchromosomal insertion. The chromosomal origin of the insertion was confirmed by fluorescence in situ hybridisation. An unbalanced karyotype, 46,XX,der(8) ,ins(8;2) (p21.3; q21.1q11.2), was found in the proband and her mother, who both have mild mental retardation, short stature, dysmorphic features, insulin dependent diabetes mellitus, and a psychotic illness. This family is a rare example of direct transmission of a partial autosomal trisomy.

Abnormalities, Multiple↗
PubMedDate not supplied

Identification of autosomal supernumerary chromosome markers (SMCs) by fluorescent in situ hybridization (FISH).

Supernumerary marker chromosomes (SMCs) are rare chromosomal abnormalities resulting in partial trisomy of specific genomic regions with characteristic phenotypic effects. Twenty six cases with autosomal SMCs are reported. Four were identified prenatally and 22 postnatally in children, aged from 8 days to 15 years, who were referred for genetic evaluation because of various congenital anomalies and developmental delay. In 22 of the 26 cases, the SMCs were de novo, in two they were familial and in another two a 11;22 reciprocal translocation was revealed in the mothers. In only one patient was the SMC present in a mosaic form. Sequential fluorescent in situ hybridization studies (FISH) using Whole Chromosome Paint (WCP) probes were performed in order to determine the chromosomal origin of the SMCs. Sixteen of them originated from chromosome 15, five were shown to be an isochromosome 18p and one was derived from chromosome 22, but did not contain the DiGeorge/ VCFS critical region. In two instances, the SMCs were derivatives of chromosome 13 and in two the SMCs resulted from a 11;22 maternal translocation and contained material from both chromosomes 11 and 22. Molecular investigation of two of the patients with an SMC[15] revealed three copies of the SNRPN gene, but the diagnosis of PW/AS due to possible imprinting was excluded in both patients by a methylation-specific PCR. FISH and molecular studies have greatly facilitated the characterization of marker chromosomes. As more SMCs are classified, better genetic counseling and risk evaluation can be achieved.

Adolescent↗
PubMed1991

Triple autosomal trisomy in a pregnancy at risk for Bloom's syndrome.

Cytogenetic analysis of the products of conception in a pregnancy at risk for Bloom's syndrome (BS) documented the karyotype 49,XX, +2, +8, +11. Autosomal triple trisomy has previously been reported in abortuses but is exceedingly rare. Other interesting but previously unreported observations made during the present study were the following: BS in a Brazilian individual, the first instance of BS diagnosed in South America; transmission of the BS mutation in Jews that are non-Ashkenazi; a medulloblastoma in the propositus, the first malignant brain tumor reported in BS; and, as in all previously examined pregnancies at risk for BS, non-homozygosity for the BS mutation.

Abortion, Spontaneous↗
PubMed1997

Genetic disorders among Palestinian Arabs: 1. Effects of consanguinity.

Among Palestinian Arabs the rate of consanguinity is very high and some 44.3% of the marriages are between relatives (22.6% of them between first cousins). In almost 2,000 files from Palestinian Arab families who attended the genetics clinic in the Hadassah Medical Center; we were able to study the effects of consanguinity on different disorders. The consanguinity rate in families with dominant or X-linked disorders and chromosome aberrations was similar to the one observed in the general population. We did not find any significant differences in the rate of consanguineous marriages between the parents and grandparents of children affected with trisomy 21 and the general population. Thus, we were not able to confirm the suggestion that there is an increase risk for trisomies in children/grandchildren of consanguineous parents. Among the parents of patients with rare autosomal recessive disorders the consanguinity rate was much higher than the one of the general population (92.5%). Among the autosomal recessive disorders, which were relatively frequent in the population, there were fewer marriages between relatives; but in most cases the difference from rare disorders is relatively small. The importance of genetic factors in various congenital malformations, such as neural tube defects and cleft lip/palate or in various forms of infertility, was confirmed by the observation of a significantly higher consanguinity rate in the parents of these patients than is observed in the general population.

Abortion, Habitual↗
PubMed2002

Correlation between rare chromosomal abnormalities and prenatal ultrasound findings.

Our objective was to examine ultrasound findings with outcomes in cases of rare chromosomal abnormalities diagnosed during pregnancy. Results of cytogenetic studies obtained from amniocenteses and chorionic villus samplings (CVS) from 1994-2000 were reviewed. Only those examples of rare chromosomal abnormalities with little information on the associated outcome were included. Cases of autosomal trisomy (13, 18, and 21), sex chromosome aneuploidy, and reciprocal or Robertsonian translocations were excluded. Ultrasound findings and outcomes were reviewed. In all, 8,642 procedures of amniocenteses and 557 of CVS were performed; 21 cases met the inclusion criteria. Parental karyotypes were obtained for 19 couples and the karyotypic abnormalities were de novo in 13. Abnormal ultrasound findings were present in 14 pregnancies, with the following outcomes: seven underwent dilatation and evacuation (D&E), with abnormal findings in two (although examination was limited by fragmentation); one medical termination with micrognathia and low-set ears; one fetal demise; one neonatal demise; three surviving neonates with abnormalities (one each with congenital kyphosis, hydronephrosis, and hypotonia), and one newborn was normal. There were seven patients without abnormal ultrasound findings with the following outcomes: three underwent D&E, with abnormal findings in two, one child with a colobomatous optic nerve, and two apparently normal infants. Follow-up was not available in one patient. We conclude that when rare karyotypes and ultrasound abnormalities are present, poor outcomes are likely. Even with normal ultrasound findings, abnormalities may be present. These data may assist in counseling patients when testing reveals such chromosomal abnormalities.

Adult↗
PubMed2001

Megacystis-microcolon-intestinal hypoperistalsis syndrome and aganglionosis in trisomy 18.

Ultrasonography at 23 weeks of gestation documented the presence of megacystis with horseshoe kidney, microcolon, intestinal malrotation, and decreased amniotic fluid volume. After pregnancy termination, an autopsy was performed. The external phenotype was diagnostic of the trisomy 18 syndrome confirmed by chromosome examination. The fetus also had a massively distended bladder with parchment-thin wall, microcolon, intestinal malrotation but no urethral obstruction or hydronephrosis. No ganglion cells were present in the colon or bladder. This has not been mentioned in other reported cases and, therefore, suggests pathogenic heterogeneity. The megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a rare autosomal recessive condition of unknown pathogenesis whose genes map to 15q24. Thus, its previously undescribed presence in trisomy 18 further suggests etiologic heterogeneity.

Abnormalities, Multiple↗
PubMed1988

Prenatal diagnosis, fetal pathology, and cytogenetic analysis of mosaic trisomy 14.

While true mosaicism occurs in only 0.25 per cent of genetic amniocenteses, nearly 2.5 per cent of amniotic fluid cell cultures contain a second cell line. In the common practice of prenatal diagnosis, an aberrant cell line confined to a single colony is usually disregarded. We present a case of mosaic trisomy 14 which was not detected on initial chromosome analysis. At birth, multiple malformations were apparent. Newborn cytogenetic studies revealed mosaicism [46,XX/46,XX,-14, +i(14q)] with an isochromosome 14 in 37 per cent of lymphocytes. Additional cells from the initial amniotic fluid culture were analysed post-delivery and the isochromosome 14 identified in only one of 12 total colonies. This case illustrates two important lessons in prenatal diagnosis. First, amniotic fluid cell cultures may not accurately reflect the relative distribution of the normal and abnormal cell lines within a mosaic fetus. Second, while it is generally reasonable to disregard mosaicism confined to a single colony, this policy will, on rare occasion, result in diagnostic error. This should be taken into consideration, particularly when dealing with autosomal trisomies potentially compatible with livebirth.

Abnormalities, Multiple↗