Screening for Chromosomal Anomalies

2021 ◽  
pp. 45-53
Author(s):  
Fabrício da Silva Costa ◽  
Conrado Sávio Ragazini
Keyword(s):  
Chromosomal Anomalies

Anatomic and chromosomal anomalies in 944 induced abortuses

1978 ◽  
Vol 43 (3) ◽  
pp. 247-258 ◽  
Author(s):  
Tadashi Kajii ◽  
Koso Ohama ◽  
Kazuya Mikamo
Keyword(s):  
Chromosomal Anomalies

scholarly journals Neurodevelopmental Outcomes at 18 Months of Corrected Age for Late Preterm Infants Born at 34 and 35 Gestational Weeks

2021 ◽  
Vol 18 (2) ◽  
pp. 640 ◽  
Author(s):  
Ruka Nakasone ◽  
Kazumichi Fujioka ◽  
Yuki Kyono ◽  
Asumi Yoshida ◽  
Takumi Kido ◽  
...  
Keyword(s):  
Preterm Infants ◽  
Late Preterm ◽  
Psychomotor Development ◽  
Youden Index ◽  
Chromosomal Anomalies ◽  
Clinical Factors ◽  
Neurodevelopmental Outcomes ◽  
Late Preterm Infants ◽  
Significant Difference ◽  
Severe Hyperbilirubinemia

To date, the difference in neurodevelopmental outcomes between late preterm infants (LPI) born at 34 and 35 gestational weeks (LPI-34 and LPI-35, respectively) has not been elucidated. This retrospective study aimed to evaluate neurodevelopmental outcomes at 18 months of corrected age for LPI-34 and LPI-35, and to elucidate factors predicting neurodevelopmental impairment (NDI). Records of all LPI-34 (n = 93) and LPI-35 (n = 121) admitted to our facility from 2013 to 2017 were reviewed. Patients with congenital or chromosomal anomalies, severe neonatal asphyxia, and without developmental quotient (DQ) data were excluded. Psychomotor development was assessed as a DQ using the Kyoto Scale of Psychological Development at 18 months of corrected age. NDI was defined as DQ < 80 or when severe neurodevelopmental problems made neurodevelopmental assessment impossible. We compared the clinical characteristics and DQ values between LPI-34 (n = 62) and LPI-35 (n = 73). To elucidate the factors predicting NDI at 18 months of corrected age, we compared clinical factors between the NDI (n = 17) and non-NDI (n = 118) groups. No significant difference was observed in DQ values at 18 months of corrected age between the groups in each area and overall. Among clinical factors, male sex, intraventricular hemorrhage (IVH), hyperbilirubinemia, and severe hyperbilirubinemia had a higher prevalence in the NDI group than in the non-NDI group, and IVH and/or severe hyperbilirubinemia showed the highest Youden Index values for predicting NDI. Based on the results of this study, we can conclude that no significant difference in neurodevelopmental outcomes at 18 months of corrected age was observed between LPI-34 and LPI-35. Patients with severe hyperbilirubinemia and/or IVH should be considered to be at high risk for developing NDI.

Prevalence, Risk Factors, and Short-Term Outcomes of Full-Term Low Birth Weight Infants Born at a Tertiary Academic Center: A Prospective Case–Control Study

2021 ◽  
Author(s):  
Heidi K. Al-Wassia ◽  
Shahd K. Baarimah ◽  
Asmaa H. Mohammedsaleh ◽  
Manal O. Alsulami ◽  
Ragad S. Abbas ◽  
...  
Keyword(s):  
Risk Factors ◽  
Birth Weight ◽  
Low Birth Weight ◽  
Case Control Study ◽  
Case Control ◽  
Adverse Outcomes ◽  
Chromosomal Anomalies ◽  
Short Term ◽  
Term Infants ◽  
Control Study

Objective Low birth weight (LBW) infants (<2,500 g) continued to be a global health problem because of the associated short- and long-term adverse outcomes. The study aimed to determine the prevalence, risk factors, and short-term outcomes of term LBW infants Study Design A prospective and case–control study. All infants born consecutively from September 1, 2018 to August 31, 2019 were included. Cases, term LBW infants, were 1:1 matched to controls, appropriate for gestational age (AGA) term infants. Major congenital or chromosomal anomalies and multiple pregnancies were excluded. Results The prevalence of term LBW in the studied period was 4.8%. Mothers of term LBW infants had significantly lower body mass index (p = 0.05), gained less weight (p = 0.01), had a history of previous LBW (p = 0.01), and lower monthly income (p = 0.04) compared with mothers of term AGA infants even after adjustment for confounders. A nonsignificant higher number of term LBW infants needed NICU admission, while their need for phototherapy was deemed significant. Conclusion We identified nutritional and socioeconomic maternal factors that are significantly associated with LBW infants and should be targeted during antenatal visits to improve neonatal outcomes. Key Points

scholarly journals Chromosomal anomalies that cause male sterility in the mouse also reduce ovary size

1984 ◽  
Vol 44 (2) ◽  
pp. 219-224 ◽  
Author(s):  
Ursula Mittwoch ◽  
Shantha Mahadevaiah ◽  
Leslie A. Setterfield
Keyword(s):  
Male Sterility ◽  
Germ Cells ◽  
Reciprocal Translocation ◽  
Chromosomal Anomalies ◽  
Male Sterile ◽  
Chromosome Anomalies ◽  
Ovarian Size ◽  
Males And Females ◽  
The Difference ◽  
Ovarian Involvement

SUMMARYTwo male-sterile chromosome anomalies, the insertion Is(7; 1)40H and the tertiary trisomy, Ts(512)31H, were found to be associated with reduced ovarian volumes in immature females. Together with the reciprocal translocation, T(11; 19)42H, in which this effect was described previously, reduced ovaries have been found in all three male-sterile chromosome anomalies investigated so far, suggesting that ovarian involvement is likely to be common in these conditions. Assuming that the smaller ovarian size reflects a reduction in the number of oocytes, it is suggested that male-sterile chromosome anomalies may exert basically similar deleterious effects on meiotic germ cells in males and females, the difference in outcome being due to cell-physiological differences between spermatocytes and oocytes and to the small number of surviving oocytes required for fertility in females.

scholarly journals Recent Developments in Diagnosis and Care for Girls in Turner Syndrome

2014 ◽  
Vol 2014 ◽  
pp. 1-9 ◽  
Author(s):  
Carolyn Bondy
Keyword(s):  
Turner Syndrome ◽  
Brain Size ◽  
Molecular Genetic ◽  
Oocyte Donation ◽  
Breath Holding ◽  
Chromosomal Anomalies ◽  
The Past ◽  
Molecular Tests ◽  
Effective Counseling ◽  
Recent Developments

The past decade produced important advances in molecular genetic techniques potentially supplanting the traditional cytogenetic diagnosis of Turner syndrome (TS). Rapidly evolving genomic technology is used to screen 1st trimester pregnancies for sex chromosomal anomalies including TS, and genomic approaches are suggested for the postnatal diagnosis of TS. Understanding the interpretation and limitations of new molecular tests is essential for clinicians to provide effective counseling to parents or patients impacted by these tests. Recent studies have advanced the concept that X chromosome genomic imprinting influences expression of the Turner phenotype and contributes to gender differences in brain size and coronary disease. Progress in cardiovascular MRI over the past decade has dramatically changed our view of the scope and criticality of congenital heart disease in TS. Cardiac MRI is far more effective than transthoracic echocardiography in detecting aortic valve abnormalities, descending aortic aneurysm, and partial anomalous pulmonary venous return; recent technical advances allow adequate imaging in girls as young as seven without breath holding or sedation. Finally, important developments in the area of gynecological management of girls and young women with TS are reviewed, including prognostic factors that predict spontaneous puberty and potential fertility and recent practice guidelines aimed at reducing cardiovascular risk for oocyte donation pregnancies in TS.

Genetic Mechanisms in Human Disease. Chromosomal Aberrations. Edited by M. F. Ashley Montague. Springfield, Illinois, Thomas, 1961

PEDIATRICS ◽  
1962 ◽  
Vol 29 (4) ◽  
pp. 635-635
Author(s):  
Josef Warkany
Keyword(s):  
Chromosomal Aberrations ◽  
Human Disease ◽  
Standard System ◽  
Chromosomal Anomalies ◽  
Mitotic Chromosomes ◽  
Medical Journals ◽  
The Status ◽  
Genetic Mechanisms

It was a commendable effort to collect in a single volume many of the important contributions that in recent years have demonstrated chromosomal anomalies associated with constitutional disorders in man. The book contains 55 articles on this subject, all of them published previously in the Lancet or in other medical journals. Two introductory chapters deal with the status of cytogenetics in medicine and with the standard system of nomenclature of human mitotic chromosomes. The book ends with a chapter "Chromosomes for Beginners" reprinted from the Lancet.

Monogenic Syndromes with Congenital Heart Diseases in Newborns (Diagnostic Clues for Neonatologists): A Critical Analysis with Systematic Literature Review

2021 ◽  
Author(s):  
Raffaele Falsaperla ◽  
Valentina Giacchi ◽  
Maria Giovanna Aguglia ◽  
Janette Mailo ◽  
Maria Grazia Longo ◽  
...  
Keyword(s):  
Systematic Review ◽  
Congenital Heart ◽  
Heart Diseases ◽  
Cost Effective ◽  
Monogenic Disease ◽  
Chromosomal Anomalies ◽  
Genetic Syndrome ◽  
Wide Range ◽  
Major Congenital Anomaly ◽  
Genomic Disorders

AbstractCongenital heart disease (CHD), the most common major congenital anomaly, is associated with a genetic syndrome (chromosomal anomalies, genomic disorders, or monogenic disease) in 30% of patients. The aim of this systematic review is to evaluate if, in the neonatal setting, clinical clues that orient the diagnostic path can be identified. For this purpose, we revised the most frequent dysmorphic features described in newborns with CHD, comparing those associated with monogenic syndromes (MSG) with the ones reported in newborns with genomic disorders. For this systematic review according to PRISMA statement, we used PubMed, Medline, Google Scholar, Scopus database, and search terms related to CHD and syndrome. We found a wide range of dysmorphisms (ocular region, ears, mouth, and/or palate and phalangeal anomalies) detected in more than half of MSGs were found to be associated with CHDs, but those anomalies are also described in genomic rearrangements syndromes with equal prevalence. These findings confirm that etiological diagnosis in newborns is challenging, and only the prompt and expert recognition of features suggestive of genetic conditions can improve the selection of appropriate, cost-effective diagnostic tests. However, in general practice, it is crucial to recognize clues that can suggest the presence of a genetic syndrome, and neonatologists often have the unique opportunity to be the first to identify abnormalities in the neonate.

Sign in / Sign up

Export Citation Format

Share Document