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→Diagnosis of Congenital disorders
==Diagnosis of Congenital disorders==
==Diagnosis of Congenital disorders==
History of parents:
<div style="text-align:justify;">
===History of parents:===
A careful history of either several spontaneous abortions or offspring with multiple anomalies is an indication for chromosome analyses on both parents. Among known genetic disorders, the severity of X-linked disorders differs in males and females. Genetic mutations originate more frequently among males, and the frequency increases with advancing paternal age. This is seen in Marfan syndrome, achondroplasia, hemophilia A, and the Lesch-Nyhan syndrome.
A careful history of either several spontaneous abortions or offspring with multiple anomalies is an indication for chromosome analyses on both parents. Among known genetic disorders, the severity of X-linked disorders differs in males and females. Genetic mutations originate more frequently among males, and the frequency increases with advancing paternal age. This is seen in Marfan syndrome, achondroplasia, hemophilia A, and the Lesch-Nyhan syndrome.
The genetic analyses in such cases can diagnose probable genetic disorders in progeny.
The genetic analyses in such cases can diagnose probable genetic disorders in progeny.
Check up before pregnancy:
'''Check up before pregnancy:'''
The genetic diseases like cystic fibrosis, fragile X syndrome, sickle cell disease, Tay-Sachs disease, Spinal muscular atrophy can be identified in carrier parents before pregnancy. It can also be done in high-risk category parents who are susceptible to disorders due to ethnicity. Common susceptible groups that may be carriers include non-Hispanic whites (cystic fibrosis), people of Eastern European Jewish descent (Tay-Sachs disease, cystic fibrosis, and others), and those of African, Mediterranean, and Southeast Asian backgrounds (sickle cell disease).
The genetic diseases like cystic fibrosis, fragile X syndrome, sickle cell disease, Tay-Sachs disease, Spinal muscular atrophy can be identified in carrier parents before pregnancy. It can also be done in high-risk category parents who are susceptible to disorders due to ethnicity. Common susceptible groups that may be carriers include non-Hispanic whites (cystic fibrosis), people of Eastern European Jewish descent (Tay-Sachs disease, cystic fibrosis, and others), and those of African, Mediterranean, and Southeast Asian backgrounds (sickle cell disease).
During pregnancy:
'''During pregnancy:'''
The risk of Down syndrome, trisomy 18, and spine and brain problems can be diagnosed between 10 and 13 weeks of pregnancy by check up. The cell free fetal DNA testing, AFP (alphafetoprotein) test, Maternal serum quad screen, Amniocentesis and Chorionic Villus Sampling (CVS) are done in susceptible cases.
The risk of Down syndrome, trisomy 18, and spine and brain problems can be diagnosed between 10 and 13 weeks of pregnancy by check up. The cell free fetal DNA testing, AFP (alphafetoprotein) test, Maternal serum quad screen, Amniocentesis and Chorionic Villus Sampling (CVS) are done in susceptible cases.
Antenatal anomaly scan:
An anomaly scan or mid-pregnancy scan is done to detect significant physical abnormalities in the growing baby. It is an ultrasound scan done between the 18th and 21st week of pregnancy. It helps detect congenital disorders like anencephaly, diaphragmatic hernia, gastroschisis, exomphalos, open spina bifida, bilateral renal agenesis, lethal skeletal dysplasia, Edwards’ syndrome or T18, Patau’s syndrome or T13, cleft lip and serious cardiac abnormalities.
'''Antenatal anomaly scan:'''
Clinical examination:
Clinical diagnosis of congenital disorders is based on the three-fold diagnostic tools.
An anomaly scan or mid-pregnancy scan is done to detect significant physical abnormalities in the growing baby. It is an ultrasound scan done between the 18th and 21st week of pregnancy. It helps detect congenital disorders like anencephaly, diaphragmatic hernia, gastroschisis, exomphalos, open spina bifida, bilateral renal agenesis, lethal skeletal dysplasia, Edwards’ syndrome or T18, Patau’s syndrome or T13, cleft lip and serious cardiac abnormalities.
1) Inspection (darshana): A careful neonatal examination after birth can identify visible structural deformities. The examination findings in each part of the neonate body for the signs which indicate life span. [Cha. Sa. [[Sharira Sthana]] 8/51]
2) Palpation (sparshana): Any structural deformity or anatomical abnormality can be easily detected by palpation. [Cha. Sa. [[Sharira Sthana]] 8/43], [A.Hr. Uttara Sthana 1/1]
===Clinical examination:===
3) Interrogation (prashna): The detailed history of both the parents regarding the family history, personal history, medical history should be taken to rule out or to find the cause of a congenital disorder in the child. It can be useful in diagnosis and prevention of hereditary disorders.
Clinical diagnosis of congenital disorders is based on the three-fold diagnostic tools.
'''1) Inspection (darshana):''' A careful neonatal examination after birth can identify visible structural deformities. The examination findings in each part of the neonate body for the signs which indicate life span. [Cha. Sa. [[Sharira Sthana]] 8/51]
'''2) Palpation (sparshana):''' Any structural deformity or anatomical abnormality can be easily detected by palpation. [Cha. Sa. [[Sharira Sthana]] 8/43], [A.Hr. Uttara Sthana 1/1]
'''3) Interrogation (prashna):''' The detailed history of both the parents regarding the family history, personal history, medical history should be taken to rule out or to find the cause of a congenital disorder in the child. It can be useful in diagnosis and prevention of hereditary disorders.
==Treatment ==
==Treatment ==
Most of congenital disorders are incurable. The patients shall be well informed about the prognosis before treating such diseases. The measures to minimize the symptoms of the particular disorder and improve the quality of life should be the goal of treatment.
Most of congenital disorders are incurable. The patients shall be well informed about the prognosis before treating such diseases. The measures to minimize the symptoms of the particular disorder and improve the quality of life should be the goal of treatment.