Ovotesticular disorder of sexual development manifested as hematospermia: a case report and literature review.

Background: Ovotesticular disorder of sexual development (OT-DSD) is a rare sexual development disorder defined by the simultaneous existence of testicular and ovarian tissues (including follicular) in the same- or opposite-sex glands of an individual, with an incidence rate of about 1 in 100 000. Aim: This report aims to supplement the clinical presentation, pathology, diagnosis, and treatment of OT-DSD and to improve the diagnostic ability of clinicians for modified disease. Methods: This article is a retrospective analysis of a case of OT-DSD at our institution. Additionally, a comprehensive search of the PubMed database with the keywords "ovotesticular disorder of sexual development" or "true hermaphroditism" was conducted between 1956 and 2024, resulting in approximately 250 cases, and the results of the search are summarized. Results: The patient, a 44-year-old male, sought treatment at our hospital on February 6, 2023, primarily due to "intermittent hematospermia for over a month." He stated that it was discovered during infancy that his right scrotum was empty and lacking a testicle. Due to the low local medical services and the low-income family's economic conditions, he did not seek further diagnosis and treatment. After admission, the patient underwent computed tomography and magnetic resonance imaging and decided to undergo robot-assisted pelvic mass resection, which was pathologically confirmed as OT-DSD. Outcomes: The patient's definitive diagnosis was provided by postoperative pathology, and although the patient ultimately had a favorable outcome, diagnosis and treatment were delayed due to his atypical clinical presentation. Strengths and Limitations: This is a single case report; however, uncommon clinical presentations of rare diseases were identified, and a literature review was conducted. Unfortunately, there are some important missing data in the patient's medical history, including hormone assessment (testosterone, luteinizing hormone, follicle-stimulating hormone), tumor marker examination, semen analysis, scrotal ultrasound, and chromosomal analysis. Conclusion: Patients with OT-DSD have diverse types of gonads, chromosomal karyotypes, and phenotypes of external genitalia, and further exploration and research are needed for early diagnosis and treatment. In addition, cases of OT-DSD with fertility and no ambiguous genitalia are even rarer. This case guides us for adult patients with no ambiguous genitalia: if there is an inability to palpate 1 or both gonads and there is intermittent hematospermia, the possibility of OT-DSD should be suspected.

Prenatal diagnosis and genetic counseling of a de novo 10q11.21q11.23 duplication associated with a normal phenotype.

Copy number variants (CNVs) are an important source of normal and pathogenic genome variations. Unbalanced chromosome abnormalities are either gains or losses of large genomic regions that do not or only minimally clinically affect the individual. Noninvasive prenatal testing (NIPT) is widely used in the screening of common fetal chromosome aneuploidy. One example is the duplication of 10q11.21q11.23, which includes the 10q11.2 region. This region contains a complex set of low-copy repeats that may lead to various genomic alterations through non-allelic homologous recombination. In this report, we present a case of a de novo 10q11.21q11.23 duplication with a normal phenotype. This case may be helpful for prenatal diagnosis and genetic counseling. A combination of NIPT, prenatal ultrasound, karyotype analysis, copy number variation sequencing, and genetic counseling is helpful for the prenatal diagnosis of CNVs.

Acute myeloid leukemia (AML) with chromosome 3 inversion: biology, management, and clinical outcome.

Acute myeloid leukemia (AML) is a complex hematological malignancy characterized by diverse genetic alterations, each with distinct clinical implications. Chromosome 3 inversion (inv(3)) is a rare genetic anomaly found in approximately 1.4-1.6% of AML cases, which profoundly affects prognosis. This review explores the pathophysiology of inv(3) AML, focusing on fusion genes like GATA2::EVI1 or GATA2::MECOM. These genetic rearrangements disrupt critical cellular processes and lead to leukemia development. Current treatment modalities, including intensive chemotherapy (IC), hypomethylating agents (HMAs) combined with venetoclax, and allogeneic stem cell transplantation are discussed, highlighting outcomes achieved and their limitations. The review also addresses subgroups of inv(3) AML, describing additional mutations and their impact on treatment response. The poor prognosis associated with inv(3) AML underscores the urgent need to develop more potent therapies for this AML subtype. This comprehensive overview aims to contribute to a deeper understanding of inv(3) AML and guide future research and treatment strategies.

In vitro fertilization and pregnancy outcomes of women with X chromosome abnormality: A case series.

BACKGROUND: To describe and conclude the in vitro fertilization (IVF) results of patients with X chromosome abnormality. METHODS: A retrospective case series was conducted. According to the number of normal X, patients were allocated into two groups: Group A (patients with only a normal X, while other X has any types of abnormalities) and Group B (patients have two or more normal X chromosomes). Clinical data, including basic information, fertility information, and IVF outcomes, were collected. RESULTS: Fourteen patients with X chromosome abnormality were included, among which 13 patients underwent a total of 29 cycles. Patients in Group B had five successful pregnancies and three live births, while no patient in Group A had a clinical pregnancy. Furthermore, the blastocyst formation rate and incidence of pregnancy were significantly lower in Group A (Z = -3.135, p = .002; Z = -2.946, p = .003, respectively). When controlled covariates, the karyotype of one normal X was also a risk factor for both blastocyst formation rate and success pregnancy (ß = .820, 95% confidence interval [CI] = 0.458-1.116, ß = .333, 95% CI = 0.017-0.494, respectively). CONCLUSIONS: Our results revealed that women with only one normal X might suffer from worse IVF outcomes, mainly blastocyst formation rate, compared with those who had two or more normal X, including mosaic Turner syndrome and 47,XXX.

Pituitary Stalk Interruption Syndrome with Excessive Height Growth Combined with Congenital Absence of the Uterus and Ovaries: A Rare Case Report and Review of the Literature.

Aim: Pituitary stalk interruption syndrome is a relatively rare disease. Patients with this disease usually have different degrees of short stature in adulthood. The purpose of this case report is to highlight a special case of unusually elongated limbs with excessive height growth and congenital absence of uterus and ovary, so as to improve clinicians understanding of the atypical manifestations of pituitary stalk interruption syndrome and provide reference for the clinical diagnosis and treatment of the disease. Case Presentation: The 30-year-old female patient exhibited disproportionate growth in height, with a significant increase from 140 cm at the age of 16 to 180 cm currently. Physical examination revealed widened bilateral eye fissures, underdeveloped secondary sexual characteristics, and absence of menstruation. The patient 's parents are cousins, belonging to consanguineous marriage. The patient 's hypoglycemia provocation test suggested the lack of growth hormone and cortisol. Gonadorelin provocation test suggested hypogonadism, and thyroid function test showed hypothyroidism. Pituitary MRI plain scan and enhancement suggested pituitary stalk interruption syndrome, and abdominal and urinary color Doppler ultrasound suggested no echo of uterus and bilateral appendages in the pelvic cavity. The karyotype of peripheral blood was 45, X[3] / 46, XX [117]. The patient was diagnosed with pituitary stalk interruption syndrome, congenital uterine and ovarian deficiency, bone overgrowth, hypothyroidism and secondary osteoporosis. During hospitalization, the symptoms were improved and discharged after hormone replacement therapy such as physiological dose of glucocorticoid, estradiol valerate tablets and levothyroxine sodium tablets. Now the patient is still in our hospital endocrinology outpatient follow-up, no special discomfort. Conclusion: The patient had special clinical manifestations and was clinically confirmed as pituitary stalk interruption syndrome. The patient 's height continues to grow in the absence of growth hormone in the body, and its mechanism remains to be further studied.

RUNX1::RUNX1T1 Acute Myeloid Leukemia Cytogenetically Showing t(6;8)(p23;q22).

Runt-related transcription factor 1 (RUNX1)::RUNX1 partner transcriptional co-repressor 1 (RUNX1T1) acute myeloid leukemia (AML) is a subtype of acute leukemia primarily classified as French American British M2. RUNX1::RUNX1T1 transcript is formed by a reciprocal translocation between chromosomes 8q22 and 21q22. However, we encountered a case of AML that showed molecular positivity for RUNX1::RUNX1T1 fusion transcript but exhibited cytogenetically atypical translocation t(6;8). Fluorescence in situ hybridization (FISH) analysis, in combination with G-banding, clarified the three-way translocation t(6;21;8)(p25;q22;q22), which was partially cryptic. The case emphasizes the importance of employing molecular analysis alongside cytogenetics to determine disease subtypes in patients with acute leukemia.

Analysis of abnormal karyotype and clinical manifestations of 4 157 infertility patients in Southern Sichuan Province / 临床检验杂志

Objective To investigate the distribution of abnormal karyotypes and their associations with clinical manifestations of the infertile patients in southern Sichuan Province.Methods A total of 4 157 infertile patients who attended the Reproductive Medicine Center of our hospital from July 2018 to June 2021 were included.The chromosome karyotype in peripheral blood was detected by G-banding,and their semen analysis results,uterine development and other clinical data were collected.Results Among the 4 157 patients,chromosomal polymorphisms were found in 239 cases(5.75％),and abnormal karyotypes wee found 137 cases(3.30％).The abnormal karyotypes included 57 cases(41.61％)of sex chromosome aneuploidy,6 cases(4.38％)of Robertsonian transloca-tions,32 cases(23.36％)of balanced translocations,21 cases(15.33％)of chromosomal inversions,9 cases(6.57％)of mosai-cism,8 cases(5.84％)of marker chromosomes,3 cases(2.19％)of sex reversal and 1 case(0.73％)of sex chromosome deletion.In male patients with abnormal karyotypes,91.58％showed abnormal semen parameters,while in those with polymorphic karyotypes,55％had abnormal semen parameters.The patients with Turner syndrome had significantly smaller uterine dimensions(longitudinal,transverse,and anteroposterior)compared to the normal control group(P＜0.01).Conclusion Chromosomal abnormalities should be the important cause of infertility.Conducting karyotype analysis combining with clinical manifestations is crucial examination for the di-agnosis and reproductive guidance of infertile patients.

[A case of Turner syndrome associated with schizophrenia]. / Szkizofréniával társuló Turner-szindróma.

The authors present the case of a young woman with mosaic karyotype Turner's syndrome who was admitted to a partial hospitalization program due to comorbid schizophrenia. Psychiatric history of the patient included the diagnosis of mild mental retardation and an outpatient appointment due to depressive symptoms. Medical history included hormone replacement therapy due to primary ovarian insufficiency and autoimmune thyroiditis as well as a single case of physical polytrauma due to a road traffic accident years before her admission. On admission, the physical characteristics of Turner's syndrome, chronic phonemic hallucinations and paranoid delusion were found with secondary anger management and social adjustment problems. Brain imaging revealed global cerebral atrophy and a clinically not significant frontal meningioma. Neuropsychological tests confirmed the mild mental retardation and an imbalanced intelligence profile with better verbal than non-verbal functioning. Medication therapy was initiated with social skill training and outpatient follow-ups. Ten months after the initial admission, the antipsychotic monotherapy resulted in a good therapeutic response without a full remission of symptoms. We present our case in the context of a literature review. Orv Hetil. 2023; 164(19): 753-757.

Amniotic fluid karyotype analysis and prenatal diagnosis strategy of 3117 pregnant women with amniocentesis indication.

Aim: To examine prenatal diagnosis strategies through fetal karyotype analysis for 3117 pregnant women with genetic amniocentesis indications. Materials & methods: According to the different indications for amniocentesis, the study was divided into 8 groups. The number of amniocentesis specimens, the number of abnormal karyotypes and the positive rate of each group were analyzed. Results: Compared with prenatal serum screening, noninvasive prenatal DNA testing is more accurate and can effectively improve screening efficiency. Multiple prenatal diagnosis indicators (37.349%) were more likely to be detected than single prenatal diagnosis indicators (11.091%). Conclusion: None of the screening methods can completely replace amniocentesis, and for pregnant women with genetic indications for amniocentesis, amniocentesis is strongly recommended.

Maternal genetic polymorphisms in the major mitotic checkpoint genes MAD1L1 and MAD2L1 associated with the risk of survival in abnormal chromosomal fetuses.

Background: The genetic etiology of fetal chromosome abnormalities remains unknown, which brings about an enormous burden for patients, families, and society. The spindle assembly checkpoint (SAC) controls the normal procedure of chromosome disjunction and may take part in the process. Objective: The aim of this study was to explore the association between polymorphisms of MAD1L1 rs1801368 and MAD2L1 rs1283639804, involved in SAC and fetal chromosome abnormalities. Methods: The case-control study collected 563 cases and 813 health controls to test the genotypes of MAD1L1 rs1801368 and MAD2L1 rs1283639804 polymorphisms by polymerase chain reaction-restrictive fragment length polymorphism methods (PCR-RFLP). Results: MAD1L1 rs1801368 polymorphism was associated with fetal chromosome abnormalities alone or combined to lower homocysteine (HCY) levels (alone: dominant: OR: 1.75, 95%CI: 1.19-2.57, and p = 0.005; CT vs. CC: OR = 0.73, 95%CI: 0.57-0.94, and p = 0.016; lower HCY: C vs. T: OR = 0.74, 95%CI: 0.57-0.95, and p = 0.02; dominant: OR = 1.75, 95%CI: 0.79-1.92, and p = 0.005). No significant differences were found in other genetic models or subgroups (p > 0.05, respectively). MAD2L1 rs1283639804 polymorphism revealed a sole genotype in the studied population. HCY is significantly associated with fetal chromosome abnormalities in younger groups (OR: 1.78, 95%CI: 1.28-2.47, and p = 0.001). Conclusion: The results implied that the polymorphism of MAD1L1 rs1801368 may become the susceptibility factor to fetal chromosome abnormalities alone or combined to lower HCY levels but not to MAD2L1 rs1283639804 polymorphism. In addition, HCY significantly affects fetal chromosomal abnormalities in younger women.

Prevalence and descriptive epidemiology of Turner syndrome in the United States, 2000-2017: A report from the National Birth Defects Prevention Network.

The lack of United States population-based data on Turner syndrome limits assessments of prevalence and associated characteristics for this sex chromosome abnormality. Therefore, we collated 2000-2017 data from seven birth defects surveillance programs within the National Birth Defects Prevention Network. We estimated the prevalence of karyotype-confirmed Turner syndrome diagnosed within the first year of life. We also calculated the proportion of cases with commonly ascertained birth defects, assessed associations with maternal and infant characteristics using prevalence ratios (PR) with 95% confidence intervals (CI), and estimated survival probability. The prevalence of Turner syndrome of any pregnancy outcome was 3.2 per 10,000 female live births (95% CI = 3.0-3.3, program range: 1.0-10.4), and 1.9 for live birth and stillbirth (≥20 weeks gestation) cases (95% CI = 1.8-2.1, program range: 0.2-3.9). Prevalence was lowest among cases born to non-Hispanic Black women compared to non-Hispanic White women (PR = 0.5, 95% CI = 0.4-0.6). Coarctation of the aorta was the most common defect (11.6% of cases), and across the cohort, individuals without hypoplastic left heart had a five-year survival probability of 94.6%. The findings from this population-based study may inform surveillance practices, prenatal counseling, and diagnosis. We also identified racial and ethnic disparities in prevalence, an observation that warrants further investigation.

The influence of vitamin D supplementation and strength training on health biomarkers and chromosomal damage in community-dwelling older adults.

Older adults lack of proper physical activity which is often accompanied by vitamin D deficiency. Those factors are known to contribute to health issues in the later years of life. The main goal of this intervention study was to investigate the effect of different vitamin D supplementation strategies for 4 weeks solely or combined with a 10-week strength training program on chromosomal stability in peripheral blood mononuclear cells in community-dwelling older people. One hundred women and men (65-85 years) received either vitamin D3 daily (800 IU), a monthly dose (50.000 IU) or placebo for 17 weeks. All groups received 400 mg calcium daily. The fitness status of the study participants was measured using the 30- second chair stand test, the handgrip strength test and the 6-min walk test. The cytokinesis block micronucleus cytome (CBMN) assay was applied to analyze chromosomal anomalies, including cytotoxic and genotoxic parameters. Changes in antioxidant markers were measured in plasma. Walking distance and chair stand performance improved significantly. Increased levels of the parameters of the CBMN assay were detected for all intervention groups at study end. At baseline micronuclei (MNi) frequency correlated significantly with BMI in both sexes (females: r = 0.369, p = 0.034; males: r = 0.265, p = 0.035), but not with vitamin D serum levels. In females, body fat (r = 0.372, p < 0.001) and functional parameter using the 30-s chair stand test (r = 0.311, p = 0.002) correlated significantly with MNi frequency. Interestingly, not vitamin D supplementation but 10 weeks of resistance training increased MNi frequency indicating elevated chromosomal instability and also adverse effects on antioxidant markers including glutathione and FRAP were detected in the group of community-dwelling older adults.

In vitro cytogenotoxic evaluation of aripiprazole on human peripheral lymphocytes and computational molecular docking analysis.

Two different drug groups, typical (classic) and atypical (new), are used in the treatment of schizophrenia. Aripiprazole, an atypical antipsychotic chemical, is the active ingredient of the drug Abilify. This study was conducted to determine the possible genotoxic effect of aripiprazole. For this purpose, four different doses of aripiprazole (5; 10; 20, and 40 µg/mL) were examined with Chromosome Abnormality (CA), Sister Chromatid Exchange (SCE), Micronucleus (MN) tests. Based on these tests, Proliferation Index (PI), Percent Abnormal Cells (AC), Mitotic Index (MI), Micronuclear Binuclear Cell (MNBN), and Nuclear Division Index (NDI) levels were determined in human peripheral lymphocytes treated for 24 and 48 hours. Also, to determine possible binding sites of Aripiprazole on B-DNA molecular docking analysis was performed using AutoDock 4.0 (B-DNA dodecamer, PDB code: 1BNA). Aripiprazole binds to B-DNA with a very significant free binding energy (-11.88 Kcal/mol). According to our study, aripiprazole did not significantly change SCE, CA, AC percentage, MN frequencies when compared with control. According to these results, aripiprazole does not have a genotoxic effect. At the same time, no significant change was observed in the PI, MI, and NDI frequencies when compared with the control. In line with these results, it was observed that the use of aripiprazole in the treatment of schizophrenia did not pose any acute genotoxic and cytotoxic risk.

Cytogenetic Analysis of Sporadic First-Trimester Miscarriage Specimens Using Karyotyping and QF-PCR: A Retrospective Romanian Cohort Study.

It is well known that first-trimester miscarriages are associated with chromosome abnormalities, with numerical chromosome abnormalities being the ones most commonly detected. Conventional karyotyping is still considered the gold standard in the analysis of products of conception, despite the extended use of molecular genetic techniques. However, conventional karyotyping is a laborious and time-consuming method, with a limited resolution of 5-10 Mb and hampered by maternal cell contamination and culture failure. The aim of our study was to assess the type and frequency of chromosomal abnormalities detected by conventional karyotyping in specimens of sporadic first-trimester miscarriages in a Romanian cohort, using QF-PCR to exclude maternal cell contamination. Long-term cultures were established and standard protocols were applied for cell harvesting, slide preparation, and GTG banding. All samples with 46,XX karyotype were tested for maternal cell contamination by QF-PCR, comparing multiple microsatellite markers in maternal blood with cell culture and tissue samples. Out of the initial 311 specimens collected from patients with sporadic first-trimester miscarriages, a total of 230 samples were successfully analyzed after the exclusion of 81 specimens based on unsuitable sampling, culture failure, or QF-PCR-proven maternal cell contamination. Chromosome abnormalities were detected in 135 cases (58.7%), with the most common type being single autosomal trisomy (71/135-52.6%), followed by monosomy (monosomy X being the only one detected, 24/135-17.8%), and polyploidy (23/135-17.0%). The subgroup analysis based on maternal age showed a statistically significant higher rate of single trisomy for women aged 35 years or older (40.3%) compared to the young maternal age group (26.1%) (p = 0.029). In conclusion, the combination of conventional karyotyping and QF-PCR can lead to an increased chromosome abnormality detection rate in first-trimester miscarriages. Our study provides reliable information for the genetic counseling of patients with first-trimester miscarriages, and further large-scale studies using different genetic techniques are required.

Simultaneous detection of genomic imbalance in patients receiving preimplantation genetic testing for monogenic diseases (PGT-M).

Background: Preimplantation genetic test for monogenic disorders (PGT-M) has been used to select genetic disease-free embryos for implantation during in vitro fertilization (IVF) treatment. However, embryos tested by PGT-M have risks of harboring chromosomal aneuploidy. Hence, a universal method to detect monogenic diseases and genomic imbalances is required. Methods: Here, we report a novel PGT-A/M procedure allowing simultaneous detection of monogenic diseases and genomic imbalances in one experiment. Library was prepared in a special way that multiplex polymerase chain reaction (PCR) was integrated into the process of whole genome amplification. The resulting library was used for one-step low-pass whole genome sequencing (WGS) and high-depth target enrichment sequencing (TES). Results: The TAGs-seq PGT-A/M was first validated with genomic DNA (gDNA) and the multiple displacement amplification (MDA) products of a cell line. Over 90% of sequencing reads covered the whole-genome region with around 0.3-0.4 × depth, while around 5.4%-7.3% of reads covered target genes with >10000 × depth. Then, for clinical validation, 54 embryos from 8 women receiving PGT-M of ß-thalassemia were tested by the TAGs-seq PGT-A/M. In each embryo, an average of 20.0 million reads with 0.3 × depth of the whole-genome region was analyzed for genomic imbalance, while an average of 0.9 million reads with 11260.0 × depth of the target gene HBB were analyzed for ß-thalassemia. Eventually, 18 embryos were identified with genomic imbalance with 81.1% consistency to karyomapping results. 10 embryos contained ß-thalassemia with 100% consistency to conventional PGT-M method. Conclusion: TAGs-seq PGT-A/M simultaneously detected genomic imbalance and monogenic disease in embryos without dramatic increase of sequencing data output.

Prenatal diagnosis and genetic counseling of a paternally inherited microduplication 18q11.1 to 18q11.2 in a chinese family.

BACKGROUND: Copy number variants are a substantial source of pathogenic or normal genome variations. Chromosomal imbalances of several megabasepair are normally harmful for the affected person. Still, rarely reported are so-called "unbalanced chromosome abnormalities" (UBCAs), which are either losses or gains or equally large genomic regions, but the carrier is only minimally clinically affected even no clinically affected. The knowledge of such UBCAs is imperative also in noninvasive prenatal testing (NIPT) or chromosomal microarray analysis. CASE PRESENTATION: A paternally inherited dup(18)(q11.1q11.2) was identified in a over two generations in a Chinese family. The affected region encompasses 25 genes, among which GATA6 is expressed in fetal endothelial cells and mesodermal cells. GATA6 duplications and /or mutations have been seen in cases with congenital heart disease but also non-affected individuals, suggesting incomplete penetrance and variable expressivity. CONCLUSIONS: Duplications in the region of chromosome 18q11 have been rare reported previously in clinically healthy persons. Here a further family with an UBCA in 18q11 is added to the literature, suggesting a careful genetic counselling in prenatal diagnosis.

Familial microdeletion 18p11.32 to 18p11.31 in a Chinese family with normal phenotype.

BACKGROUND: Chromosomal imbalances of several megabasepair in size are normally deleterious for the carrier. Still, rarely reported are so-called "unbalanced chromosome abnormalities" (UBCAs), which are either gains or losses or equally large genomic regions, but the affected person is not or only minimally clinically affected. The knowledge of such UBCAs is imperative also in chromosomal microarray analysis (CMA) or noninvasive prenatal testing (NIPT). CASE PRESENTATION: A maternally inherited del(18)(p11.32p11.31) was identified in a over two generations in a Chinese family with normal phenotype. The affected region encompasses 19 genes, among which TGIF1 is expressed in fetal and adult nervous system. TGIF1 deletions and /or mutations have been seen in cases with holoprosencephaly but also non-affected individuals, suggesting incomplete penetrance and variable expressivity. CONCLUSIONS: Deletions in the terminal region of chromosome 18 short arm have been reported previously in clinically healthy persons. Here a further family with an UBCA in 18p11.3 is added to the literature, suggesting a careful genetic counselling in comparable, especially prenatal cases.

Prenatal diagnosis of a novel 7q31.31q31.33 microduplication with a favorable outcome.

BACKGROUND: Copy number variants (CNVs) are an important source of normal and pathogenic genome variations. Especially CNVs identified in prenatal cases need careful considerations and correct interpretation if those are harmless or harmful variants from the norm. CASE PRESENTATION: Herein, we reported a paternally inherited duplication of 7.6 Mb in 7q31.3 with, surprisingly, a favorable outcome. GTG-banding and CMA on the DNA derived from uncultured amniocytes revealed a karyotype: 46,XX.arr[GRCh37] 7q31.31q31.33(118,601,001_126,177,044) × 3. Ultrasound examination showed no dysmorphisms or intrauterine growth restriction in the fetus and the father was clinically normal as well. CONCLUSION: Prenatal detection of a 7.6 Mb in 7q31.31 to 7q31.33 duplication in a female fetus turned out to be a yet unreported unbalanced chromosome abnormality. This is another example that parental testing and GTG-banding are necessary additional tests to be done in prenatal cases, before a reliable conclusion on the meaning of an aberration can be drawn.

Recurrent pregnancy loss: fewer chromosomal abnormalities in products of conception? a meta-analysis.

OBJECTIVE: To compare the prevalence of chromosomal abnormalities detected in products of conception (POCs) between recurrent pregnancy loss and sporadic pregnancy loss. METHODS: A systematic search was performed in the PubMed and Embase databases from inception to December 31, 2020. Relevant studies analysing the association between the number of pregnancy losses and the incidence of chromosomal abnormalities were included. Independent data extraction was conducted and study quality was assessed. Meta-analyses were carried out to calculate odds ratios by using fixed- or random-effects models according to statistical homogeneity. RESULTS: A total of 8320 POCs in 19 studies were identified for the meta-analyses. The incidence of chromosomal abnormalities in sporadic pregnancy loss was significantly higher than that in recurrent pregnancy loss. In subgroup analyses, the following studies reported a high incidence of abnormal outcomes of sporadic pregnancy loss: studies with ≥ 300 samples, studies published before 2014, studies conducted in European and American countries, and studies with analyses using conventional karyotype techniques. Moreover, the incidence of chromosomal abnormalities in women with two pregnancy losses was significantly higher than that in women with three or more pregnancy losses. However, there was no difference in the distribution of abnormal types between sporadic and recurrent pregnancy loss or between two and three or more pregnancy losses. CONCLUSIONS: The prevalence of chromosomal abnormalities detected in POCs was lower in recurrent pregnancy loss than in sporadic pregnancy loss, and decreased with an increasing number of pregnancy losses.