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.

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.

Molecular prenatal diagnosis of Hb H Hydrops Fetalis caused by haemoglobin Adana and the implications to antenatal screening for α-thalassaemia

2008 ◽  
Vol 28 (9) ◽  
pp. 859-861 ◽  
Author(s):  
S. Henderson ◽  
M. Pitman ◽  
J. McCarthy ◽  
A. Molyneux ◽  
J. Old
Keyword(s):  
Prenatal Diagnosis ◽  
Hydrops Fetalis ◽  
Antenatal Screening

Prenatal diagnosis

2020 ◽  
pp. 141-150
Author(s):  
Ana Piñas Carrillo ◽  
Amarnath Bhide
Keyword(s):  
Prenatal Diagnosis ◽  
Biochemical Markers ◽  
Detection Rate ◽  
Main Tool ◽  
Fetal Anomaly ◽  
Antenatal Screening ◽  
Ultrasound Scan ◽  
The United Kingdom ◽  
Structural Abnormalities ◽  
Routine Antenatal Care

Prenatal diagnosis commenced in the 1980s as part of routine antenatal care in the United Kingdom. Ultrasonography has become widely spread and the main tool to screen for fetal structural abnormalities and chromosomal defects together with biochemical markers. Standardization of routine antenatal screening has only been introduced recently by the National Health Service Fetal Anomaly Screening Programme (FASP) in an attempt to achieve uniformity in prenatal diagnosis around the country. A series of recommendations were made including 11 fetal conditions with a detection rate of more than 50% that should be routinely screened for in any centre in the country. Any ultrasound scan should be performed in a systematic fashion ensuring examination of every system in the fetal anatomy. It is essential to become familiarized with the normal fetal anatomy and the most common structural abnormalities and referral to a centre with appropriate expertise is imperative if any abnormality is suspected.

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