Prenatal diagnosis, antenatal screening and reproductive aspects of medical genetics

2019 ◽  
pp. 145-170
Author(s):  
Angus Clarke
Keyword(s):  
Prenatal Diagnosis ◽  
Medical Genetics ◽  
Antenatal Screening

scholarly journals Certain historical, practical and scientific aspects of prenatal diagnostics in st. Petersburg

2004 ◽  
Vol 53 (1) ◽  
pp. 82-88
Author(s):  
V. S. Baranov
Keyword(s):  
Prenatal Diagnosis ◽  
High Risk ◽  
Research Methods ◽  
Rapid Growth ◽  
Medical Genetics ◽  
Practical Significance ◽  
Non Invasive ◽  
Methodological Problems ◽  
Biochemical Research ◽  
Selection Of

Prenatal diagnosis (PD), as a relatively new area of ​​medical genetics, is experiencing a period of rapid growth. Methodological problems of PD associated with the selection of women at high risk of congenital and hereditary pathology, complex examination of the fetus using non-invasive (ultrasound) and invasive (cytogenetic, molecular, biochemical) research methods have already been resolved. Further increase in the effectiveness of PD, its scientific and practical significance depends entirely on the level of organization of this service in the field and its funding. An important role in the development of modern PD in Russia was played by the PD laboratory of the N.I. BEFORE. Otta RAMS.

scholarly journals Antenatal Screening for Identification of Couples for Prenatal Diagnosis of Severe Hemoglobinopathies in Surat, South Gujarat

2012 ◽  
Vol 63 (2) ◽  
pp. 123-127 ◽  
Author(s):  
Dipal S. Bhukhanvala ◽  
Smita M. Sorathiya ◽  
Pratibha Sawant ◽  
Roshan Colah ◽  
Kanjaksha Ghosh ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Antenatal Screening

scholarly journals Conservative management of Cantrell syndrome: a case report

2020 ◽  
Vol 2020 (5) ◽  
Author(s):  
Marcella Schiavone ◽  
Damiano Pizzol ◽  
Anna Claudia Colangelo ◽  
Mario Antunes
Keyword(s):  
Case Report ◽  
Prenatal Diagnosis ◽  
Abdominal Wall ◽  
Low Income ◽  
Conservative Management ◽  
Gold Standard ◽  
Antenatal Screening ◽  
Ectopia Cordis ◽  
Standard Management ◽  
Clinical Conditions

Abstract Cantrell syndrome (CS) is defined as congenital combination of five anomalies: defects at the lower part of the sternum, anterior diaphragm, midline supraumbilical abdominal wall, diaphragmatic pericardium and ectopia cordis. Antenatal screening should be performed to make an accurate prenatal diagnosis. The prognosis is usually poor with a high mortality early in life. The gold standard management is surgery but its prognosis remains poor. In many low-income settings prenatal examinations and surgery treatment are not possible. In the present case, we report a not surgery managed baby affected by CS, with good clinical conditions after 5 months.

scholarly journals The use of fetal exome sequencing in prenatal diagnosis: a points to consider document of the American College of Medical Genetics and Genomics (ACMG)

2020 ◽  
Vol 22 (4) ◽  
pp. 675-680 ◽  
Author(s):  
Kristin G. Monaghan ◽  
◽  
Natalia T. Leach ◽  
Dawn Pekarek ◽  
Priya Prasad ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Exome Sequencing ◽  
Medical Genetics ◽  
Genetics And Genomics

Antenatal diagnosis and pre-implantation genetic testing

2018 ◽  
Author(s):  
Frances Flinter
Keyword(s):  
Prenatal Diagnosis ◽  
Genetic Testing ◽  
Molecular Level ◽  
Antenatal Diagnosis ◽  
Genetic Diagnosis ◽  
Recurrence Risk ◽  
Antenatal Screening ◽  
Ultrasound Scan ◽  
Specific Diagnosis ◽  
Non Invasive

Routine pregnancy screening (e.g. ultrasound scan) may lead unexpectedly to the identification of an underlying renal problem whose aetiology may not be apparent immediately. It is important to recognize genetic causes so that associated problems in other organs can be anticipated and the recurrence risk for future pregnancies established. Specific diagnosis at a cytogenetic or molecular level may be essential if the options of early prenatal diagnosis or pre-implantation genetic diagnosis are to be available to the couple in future pregnancies. This chapter discusses the topics of antenatal screening, prenatal diagnosis (including invasive and non-invasive diagnosis and counselling) and intervention, and pre-implantation genetic diagnosis.

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