Diagnosis Of Sex Chromosome Abnormalities Research Articles

Successful Treatment of Sperm DNA Fragmentation Through Ayurveda Rasayana Therapy: A Case Study

Background: Sperm DNA fragmentation (SDF) can affect fertilization rate and embryo development, making it a useful measure for assessing male fertility. Available evidence supports the association between high sperm DNA fragmentation and poor outcomes, with regard to natural conception. Several treatment options are being adopted with varying degrees of success. Some of the commonly used treatment options are the intake of oral antioxidants, varicocele repair, and techniques like micro-manipulation-based sperm selection and use of testicular sperm for intracytoplasmic sperm injection.
 Case Presentation: Studies have shown that around 29% of couples depend on complementary and alternative medicine (CAM) modality for the treatment of infertility. However, there is a lack of substantial evidence regarding its efficacy in treating various aspects of infertility in couples. The current case report is about a 44 year-old male patient with infertility, who has a known diagnosis of sex chromosome abnormalities. Meanwhile, the SDF study reports indicated the presence of chromosomal abnormalities. This patient was treated exclusively with Ayurveda therapy aimed towards qualitative improvement in reproductive tissues (Shukra Dhatu as per Ayurveda). Patient was assessed periodically for changes in chromosomal abnormality. After four months of treatment, the evaluations demonstrated the presence of completely normal chromosomes.
 Conclusion: This case study indicates the potential of Ayurveda therapy in treating cases of male infertility caused by DNA fragmentation. Furthermore, observations and systematically designed clinical trials are warranted to establish a stronger level of evidence before making further clinical recommendations.

The role of non-invasive prenatal testing and ultrasound in prenatal screening of fetal chromosomal abnormalities in singleton: a retrospective study.

Non-invasive prenatal testing (NIPT) has good screening performance for common chromosomes, but it may have false positive (FP) and false negative (FN) results for various reasons. For abnormal NIPT results, the combination of fetal ultrasound phenotypes will provide more fetal information for prenatal diagnosis. The aim of this study was to combine NIPT and ultrasound phenotypes to analyze their complementary roles in prenatal screening of fetal chromosome abnormalities. From January 2018 to December 2021, 12,803 pregnant women with singleton who successfully underwent NIPT/expanded NIPT (NIPT-Plus) at Xiangya Hospital of Central South University, of which 111 cases were positive results and one case was FN result. We retrospectively collected the clinical features, ultrasonographic findings, prenatal diagnosis, and pregnancy outcomes of these 112 pregnant women and analyzed the ultrasonic manifestations of different chromosomal abnormalities in detail. The positive predictive values (PPVs) of NIPT/NIPT-Plus for trisomy (T)21, T18, sex chromosome abnormality (SCA), microdeletion/microduplication syndrome (MMS), T13, and rare autosomal trisomy (RAT) were 100.0%, 85.7%, 57.1%, 44.4%, 40.0%, and 7.7%, respectively. The total termination rates of pregnancy for T21, T18, T13, SCA, pathogenic MMS, and RAT were 93.5%, 100.0%, 100.0%, 66.7%, 100.0%, and 100.0%, respectively. From the karyotypes of SCA live-born fetuses, 47,XYY and 47,XXX were more likely to be selected for continued pregnancy. The ultrasound phenotypes of T21 were diverse, including normal, soft marker, and structural malformation. Both T18 and T13 had structural malformations as the main phenotypes. Most ultrasound phenotypes of FP T21, T18, and T13 were normal but occasionally manifested as fetal growth restriction (FGR). The ultrasound phenotypes of SCA, MMS, and RAT were relatively mild and manifested as normal, soft marker, FGR, or polyhydramnios, and the ultrasound phenotypes were similar between FP and true positive (TP) cases. Ultrasound phenotypes are helpful in identifying FP NIPT/NIPT-Plus results, especially for T18 and T13. Given its mild ultrasound phenotypes, NIPT-Plus has important clinical significance in reducing the missed diagnosis of SCA, MMS, and RAT, but its screening performance needs to be further improved.

VP06.01: Prenatal diagnosis of sex chromosome abnormalities in one tertiary diagnostic centre in Poland

VP06.01: Prenatal diagnosis of sex chromosome abnormalities in one tertiary diagnostic centre in Poland

Examination of sex chromosome abnormalities in childhood

Early diagnosis of sex chromosome abnormalities is important because of prevention, family planning and optimal therapy. Investigation of the relationship between phenotype, age at time of diagnosis and therapeutic options in sex chromosome aberrations. Processing data of 51 children with sex chromosome abnormalities who were diagnosed between 2009 and 2014 and examined at the 2nd. Department of Pediatrics, Semmelweis University, by the methods of anamnesis, family tree analysis, physical examination, karyotype analysis and fluorescent in situ hybridisation. 41% of the patients were diagnosed with Turner-, 18% with Klinefelter-, 10% with double-Y-, 6% with triple- and poly-X-syndrome, 19% with other gonadal dysgenesis and 6% with other abnormality. The average age at diagnosis: Turner- and Klinefelter-syndrome 10 years, other gonadal dysgenesis 9 years, 46,XX,t(X;10) 17 years, other abnormalities 1-2 years. Numerical aberrations of the sex chromosomes are more common than structural aberrations. Klinefelter-, triple- and poly-X-syndromes are underdiagnosed in childhood. Early diagnosis of Turner-syndrome and other gonadal dysgenesis is necessary to optimise therapy and prevent associated diseases. This can be achieved by modern prenatal diagnostic methods and targeted activity of family pediatricians. Orv Hetil. 2018; 159(27): 1121-1128.

Decision to abort after a prenatal diagnosis of sex chromosome abnormality: A systematic review of the literature

Decision to abort after a prenatal diagnosis of sex chromosome abnormality: A systematic review of the literature

Pregnancy outcome following prenatal diagnosis of sex chromosome abnormalities in Mainland China

Pregnancy outcome following prenatal diagnosis of sex chromosome abnormalities in Mainland China

Parental decisions following the prenatal diagnosis of sex chromosome abnormalities

Objective: To report parental decisions regarding pregnancy termination following the prenatal diagnosis of a sex chromosome abnormality (SCA) in the fetus. Methods: Retrospective collection of data from records of 61 families receiving genetic counseling after prenatal diagnosis of a sex chromosome abnormality in the fetus in the Division of Medical Genetics, University Hospital of Geneva during the time period 1980–2001. Results: Among 61 couples with a prenatal diagnosis of a sex chromosome abnormality (SCA), 44 couples (72.1%) decided to terminate pregnancy. Pregnancy termination rates were 100, 73.9, 70, 50 and 42.9% for Turner syndrome, Klinefelter syndrome, 47,XXX females, 47,XYY males, and mosaic cases, respectively. In all 11 cases with a fetal abnormality seen on ultrasound, pregnancy was terminated. Termination rates were higher among couples with a higher mean number of previous children. Maternal age and year of test did not influence parental decisions. Conclusions: Parental decision to terminate a pregnancy for a fetus with a SCA varied by type of sex chromosome abnormality, by presence of fetal ultrasound anomalies, and by the mean number of previous children.

Pregnancy outcome and prenatal diagnosis of sex chromosome abnormalities in Hawaii, 1986-1999.

Sex chromosome abnormalities such as Turner syndrome, Klinefelter syndrome, triple X syndrome, and 47,XYY can be prenatally diagnosed and electively terminated. This investigation examined the pattern of pregnancy outcome of prenatally and postnatally diagnosed sex chromosome abnormalities in Hawaii during 1986-1999 and calculated prenatal diagnosis and subsequent elective termination rates for various factors. Data were obtained from a statewide population-based birth defects registry. The study included 205 detected sex chromosome abnormality cases of which 93 (45%) were live births, 18 (9%) late fetal deaths, 37 (18%) early fetal deaths, and 57 (28%) elective terminations. Pregnancy outcome distribution varied by type of sex chromosome abnormality. Prenatal diagnosis was reported for 132 (64%) of the cases, of which 46 (35%) were subsequently electively terminated. Eleven cases were elective terminations where the sex chromosome abnormality was diagnosed after delivery. Elective termination rates subsequent to prenatal diagnosis differed by sex chromosome abnormality, being highest for 45,X (54%), followed by 47,XXY (46%), 47,XYY (29%), and 47,XXX (17%). Although prenatal diagnosis rates increased significantly over the time period (P = 0.006), the subsequent elective termination rate declined slightly, albeit the trend was not statistically significant (P = 0.440). The prenatal diagnosis rate was highest for the 35-39-year maternal age group, although this age group did not have subsequent elective termination rates higher than other maternal age groups. Pregnancy outcome distribution and prenatal diagnosis and subsequent elective termination of sex chromosome abnormalities appeared to depend on the type of sex chromosome abnormality, year of delivery, and maternal age.

Genetic counseling for sex chromosome abnormalities.

Sex chromosome abnormalities (SCAs) are the most frequently occurring chromosomal abnormalities encountered at both prenatal diagnosis and at birth. Approximately 1/400 newborns has an SCA, and incidence at prenatal diagnosis is even greater, 1/250 to 1/300. Physicians and health providers from various specialties are encountering diagnoses of SCAs with increased frequency as more individuals are becoming identified, both prenatally and postnatally. Because these conditions generally have relatively few serious physical implications and because they are extremely variable, genetic counseling is often more complex and challenging than that occurring with an autosomal abnormality. It is imperative that health professionals have the knowledge of content and methodology to provide appropriate counseling to such individuals and their families. During the period from 1964 to 1975, seven international groups (including the Denver group) screened a total of 199,898 consecutive births and identified 307 individuals with SCA. The Denver group has followed more than 40 such individuals from birth to adulthood. In addition, the Denver group has experience in counseling over 1,000 families with a prenatal diagnosis of SCA. Based on these studies and contacts, guidelines for the counseling of individuals and families with SCA are provided. Accurate information must be presented and the variability and imprecise prognosis recognized. Successful counseling strategies include interfamily contact, viewing photographs, and utilizing support groups. Issues of disclosure, follow-up, and anticipatory guidance should be addressed.

Fifty-one prenatally diagnosed children and adolescents with sex chromosome abnormalities.

Children with sex chromosome abnormalities (SCA) are known to be at risk for developmental delays. These risks were identified 2 decades ago by seven international research groups who prospectively followed children ascertained after birth. Subsequently, some of these investigators suggested the course of prenatally identified children with SCA may be different from children in earlier studies. The first such evidence was published by Robinson et al. [1992: Am J Med Genet 44:365-368], who compared 20 prenatally diagnosed children to the original postnatally diagnosed cohort. The following report presents an update and expansion of that research and includes 51 children and adolescents prenatally diagnosed with SCA, now 7-18 years of age. Results confirm that this cohort of prenatally diagnosed children has a milder developmental course than children ascertained postnatally. The study provides new information to health professionals counseling families faced with prenatal diagnosis of SCA.

Decisions following the intrauterine diagnosis of sex chromosome aneuploidy.

This is a report of 327 phone calls to our center concerning the intrauterine diagnosis of sex chromosome abnormalities (SCA). The first author (A.R.) responded to each by counseling either the parents or the referring professional. Sixty-two percent continued the pregnancy. When the parents were counseled directly, the percentage continuing the pregnancy was significantly higher than when the information was transmitted through the professionals. Our results are different from most reports in these situations, and suggest that well-informed couples, counseled by geneticists, are more likely to continue these pregnancies. The possible occurrence of SCA should be considered in preamniocentesis counseling.

Are the occasional aneuploid cells in peripheral blood cultures significant?

Cytogenetic results of 1,500 consecutive clinical cases from a young population were analyzed for rare cells with hypermodality (greater than or equal to 47 chromosomes) or hypomodality (less than or equal to 45 chromosomes). Such instances of non-modal chromosome gains or losses were random relative to referral diagnosis or modal karyotype. However, chromosome loss was correlated with size, smaller chromosomes being lost more frequently (correlation coefficient = 0.794). Sex chromosome gain or loss in vitro was of particular interest since mosaicism in vivo is frequently found in patients presenting with manifestations of Turner or Klinefelter syndrome. Cases with a referral diagnosis of sex chromosome abnormality showed no increased gain or loss of an X or Y chromosome when compared to other types of clinical cases. Our analyses suggest that when one non-modal cell is found with a gain or loss of a chromosome relevant to the referral diagnosis, then the results on a count of 40 cells should differentiate in vitro artifact from probable in vivo mosaicism with 95% degree of confidence.