Genetic testing in neonates and children can help diagnose congenital abnormalities. Around 1 in 35 children are born with congenital anomalies that affect development or functioning. Common birth defects in India include congenital heart disease, deafness, and neural tube defects. Genetic testing techniques like karyotyping, fluorescence in situ hybridization (FISH), chromosomal microarray analysis (CMA), and next generation sequencing (NGS) can help identify genetic disorders, chromosomal abnormalities, and mutations that cause congenital anomalies. Genetic testing provides medical benefits through diagnosis but also raises issues regarding psychological impacts, reproductive choice, and potential harms.
Genetic Testing in Neonates and Children - Screening for developmental delay ...Prakash Patil
This document discusses genetic testing in neonates and children. It describes developmental delay and dysmorphism, the risk factors, types of delays, screening tests used to detect delays, treatment options, common dysmorphic features, and investigations for dysmorphism. Genetic testing can screen for developmental delays and birth defects through various prenatal and postnatal screening methods to facilitate early diagnosis and treatment.
Genetic testing in the neonates and children.pptxRameeThj
Genetic testing in neonates and children can be used for several purposes:
1. To confirm a suspected genetic disorder based on symptoms or family history.
2. To screen for genetic carriers and determine risk of passing on disorders.
3. To predict development of disorders in asymptomatic individuals with a family history.
Genetic testing methods include preimplantation testing of embryos, prenatal testing of fetuses using amniocentesis, chorionic villus sampling, or cordocentesis, and newborn screening. The results can guide medical management and allow families to prepare for caring for a child with special needs.
Maternal prenatal and genetic influence on defects and diseases (Unit -II)BHAVESH SINGH
This document discusses maternal and genetic influences on birth defects and diseases. It defines key terms and classifications of birth defects. The main causes of congenital anomalies are described as genetic factors like chromosomal/single-gene defects, environmental teratogens, and multifactorial origins. Specific genetic conditions, teratogens (such as alcohol, thalidomide), infections, and maternal disorders that can cause birth defects are explained. Prevention strategies include preconception counseling and folic acid supplementation during pregnancy.
The diagnosis of a genetic condition can profoundly impact a family in several ways. Families often experience grief, guilt, depression, and fear after learning of their child's diagnosis. They may also face social stigma and difficulties selecting partners or maintaining relationships. Additionally, genetic conditions can cause psychological, physical, cognitive, and economic burdens as families struggle with care costs and lost income. However, receiving conclusive test results that rule out a suspected genetic disorder can provide families with relief.
Dysmorphism refers to abnormalities in morphological development where structures can appear in different forms. Dysmorphism can be facial or structural and is seen in dysmorphic features which are differences in body structure that can be isolated or related to genetic disorders. Common dysmorphic features include variations in eye spacing, philtrum length, and nose shape. The causes of dysmorphism include chromosomal abnormalities, single gene mutations, teratogen exposure, and environmental factors during development.
This document provides definitions for genetic terms and discusses the practical applications of genetics in nursing. It defines key terms like DNA, genes, alleles, and more. It then discusses how genetics knowledge helps nurses to understand disease basis, enable early diagnosis, contribute to health promotion, prevent genetic conditions, manage genetic care and counseling, provide referrals, and address social/ethical issues. Nurses need genetics training to identify, support, refer and care for people with genetic disorders or risk.
genetic testing inneanates and childern.pdfOM VERMA
This document discusses genetic testing in neonates and children. It covers several topics:
1. Congenital anomalies which are abnormalities present at birth that can be caused by genetic factors like single gene defects or chromosomal disorders, as well as environmental factors.
2. Developmental delay which refers to a child not gaining skills at the expected rate and can be caused by genetic conditions, brain injuries, infections or prenatal exposure to toxins.
3. Dysmorphism which means abnormal body shape or features and can involve conditions like wide or narrow eye spacing.
The document also discusses genetic screening techniques like cytogenetic, biochemical and molecular testing to detect chromosome, protein or DNA abnormalities that can cause
Genetic Testing in Neonates and Children - Screening for developmental delay ...Prakash Patil
This document discusses genetic testing in neonates and children. It describes developmental delay and dysmorphism, the risk factors, types of delays, screening tests used to detect delays, treatment options, common dysmorphic features, and investigations for dysmorphism. Genetic testing can screen for developmental delays and birth defects through various prenatal and postnatal screening methods to facilitate early diagnosis and treatment.
Genetic testing in the neonates and children.pptxRameeThj
Genetic testing in neonates and children can be used for several purposes:
1. To confirm a suspected genetic disorder based on symptoms or family history.
2. To screen for genetic carriers and determine risk of passing on disorders.
3. To predict development of disorders in asymptomatic individuals with a family history.
Genetic testing methods include preimplantation testing of embryos, prenatal testing of fetuses using amniocentesis, chorionic villus sampling, or cordocentesis, and newborn screening. The results can guide medical management and allow families to prepare for caring for a child with special needs.
Maternal prenatal and genetic influence on defects and diseases (Unit -II)BHAVESH SINGH
This document discusses maternal and genetic influences on birth defects and diseases. It defines key terms and classifications of birth defects. The main causes of congenital anomalies are described as genetic factors like chromosomal/single-gene defects, environmental teratogens, and multifactorial origins. Specific genetic conditions, teratogens (such as alcohol, thalidomide), infections, and maternal disorders that can cause birth defects are explained. Prevention strategies include preconception counseling and folic acid supplementation during pregnancy.
The diagnosis of a genetic condition can profoundly impact a family in several ways. Families often experience grief, guilt, depression, and fear after learning of their child's diagnosis. They may also face social stigma and difficulties selecting partners or maintaining relationships. Additionally, genetic conditions can cause psychological, physical, cognitive, and economic burdens as families struggle with care costs and lost income. However, receiving conclusive test results that rule out a suspected genetic disorder can provide families with relief.
Dysmorphism refers to abnormalities in morphological development where structures can appear in different forms. Dysmorphism can be facial or structural and is seen in dysmorphic features which are differences in body structure that can be isolated or related to genetic disorders. Common dysmorphic features include variations in eye spacing, philtrum length, and nose shape. The causes of dysmorphism include chromosomal abnormalities, single gene mutations, teratogen exposure, and environmental factors during development.
This document provides definitions for genetic terms and discusses the practical applications of genetics in nursing. It defines key terms like DNA, genes, alleles, and more. It then discusses how genetics knowledge helps nurses to understand disease basis, enable early diagnosis, contribute to health promotion, prevent genetic conditions, manage genetic care and counseling, provide referrals, and address social/ethical issues. Nurses need genetics training to identify, support, refer and care for people with genetic disorders or risk.
genetic testing inneanates and childern.pdfOM VERMA
This document discusses genetic testing in neonates and children. It covers several topics:
1. Congenital anomalies which are abnormalities present at birth that can be caused by genetic factors like single gene defects or chromosomal disorders, as well as environmental factors.
2. Developmental delay which refers to a child not gaining skills at the expected rate and can be caused by genetic conditions, brain injuries, infections or prenatal exposure to toxins.
3. Dysmorphism which means abnormal body shape or features and can involve conditions like wide or narrow eye spacing.
The document also discusses genetic screening techniques like cytogenetic, biochemical and molecular testing to detect chromosome, protein or DNA abnormalities that can cause
Maternal prenatal and genetic influences on development of defect and disease...OM VERMA
Maternal infections during pregnancy can increase the risk of preterm birth and serious health complications in newborns, including specific organ damage, developmental delay, and even death. Several genetic conditions can also affect fetal development, such as phenylketonuria, tuberous sclerosis complex, myotonic dystrophy, cystic fibrosis, and Turner syndrome. Maternal infections and genetic factors are two categories of conditions that can impact the health of the mother and fetus.
Genetic counseling is a process that provides information about inherited disorders to allow informed choices about reproduction and management. It follows the characteristics of counseling by communicating between counselors and families confronting genetic disorders. The steps of genetic counseling involve taking an accurate history, constructing a pedigree chart, estimating risk, transmitting information, and discussing management options. Genetic counselors work with prenatal, pediatric, adult, and cancer populations to assess risk and discuss testing and management of genetic conditions. Nurses play a role in guiding patients, assisting with decisions, coordinating care, and providing support.
Gene structure and its characteristics: structure of DNA, structure by watson and crick double helix structure, dominant and recessive gene, homologous and heterozygous state, translation, transcription, characteristics of gene.
MATERNAL AGE,MATERNAL DRUG THERAPY PRENATAL TEST AND DIAGNOSIS.pdfOM VERMA
This document discusses prenatal testing and diagnosis. It begins with an introduction to maternal age and risks associated with advanced maternal age such as preeclampsia and genetic disorders. It then describes various prenatal tests including amniocentesis, which analyzes amniotic fluid; chorionic villus sampling, which analyzes placental tissue; and non-invasive options like cell-free DNA screening from a blood sample and triple screening tests. The document outlines both invasive procedures that obtain fetal tissues and non-invasive procedures to screen for potential issues.
Genetic counseling is a communication process that advises individuals and families about genetic disorders and associated risks. It helps them understand medical, psychological and familial implications. The process involves taking a family history, constructing a pedigree, estimating genetic risks, and providing information and management options. Genetic counselors work with prenatal, pediatric, and adult populations, as well as those with cancer risks. They discuss testing options like amniocentesis and address ethical issues around choices like abortion. Nurses play a role in guiding patients, assisting with decisions, coordinating care, and providing support.
practical application of genetics in nursing OM VERMA 2022 slide.pdfOM VERMA
This document discusses genetics and its application in nursing. It defines genetics as the study of heredity and variation in traits from one generation to the next. Genetic nurses perform risk assessments and educate families about genetic conditions. Some key applications of genetics in nursing include genetic testing and counseling, newborn screening to prevent conditions like PKU, and managing care for patients with genetic disorders. The impact on families can include social stigma, discrimination, lowered self-esteem, stress, and lack of opportunities for those with physical or mental health issues resulting from genetic conditions.
Introduction to genetics (Unit - I)for B.Sc. Nursing StudentsBHAVESH SINGH
This document provides an introduction to genetics and cell division. It discusses how Gregor Mendel first observed inheritance of traits from parents to offspring in the 19th century. It defines key genetic terms like gene, allele, chromosome, and explains Mendelian patterns of inheritance. It also summarizes the stages of mitosis and meiosis, comparing somatic and germ cell division. In meiosis, homologous chromosomes pair and may crossover, then separate in Meiosis I to reduce the chromosome number by half in reproductive cells.
1. Mendelian inheritance refers to how genetic information is passed down from parent to child according to certain rules established by Gregor Mendel.
2. A child inherits half of their genetic information from their mother in the form of 23 chromosomes and half from their father in the form of 23 chromosomes, for a total of 46 chromosomes which carry genes.
3. Each parent contributes one copy of every gene, so the child ends up with two copies of each gene, with traits generally being inherited separately rather than linked.
This document discusses genetic testing, including definitions, purposes, types, and techniques. It covers several types of genetic testing such as carrier screening, preimplantation diagnosis, prenatal testing, newborn screening, and predictive adult testing. Techniques discussed include amniocentesis, chorionic villus sampling, fetal cell analysis from maternal blood, analysis of maternal serum markers, ultrasound, autopsy, and culture/microscopy. Ethical considerations around informed consent are also mentioned.
Genetic counseling: Introduction, definition, purposes of genetic counseling, indications of genetic counseling, beneficiaries of genetic counseling, phases of genetic counseling, role of nurse in genetic counseling, application of genetic counseling.
This document discusses genetic testing, including its definition, various types, reasons for testing, results, risks and limitations. It provides information on several genetic testing methods like newborn screening, diagnostic testing, carrier testing, prenatal testing, and preimplantation testing. The document outlines the role of nurses in ensuring informed consent, counseling, confidentiality, and addressing psychological impacts of genetic testing. In summary, the document provides a comprehensive overview of genetic testing, its various applications and the ethical considerations involved.
EFFECT OF RADIATIONS ,DRUGS AND CHEMICAL.pdfOM VERMA
The document discusses the effects of radiation, drugs, chemicals, alcohol, and smoking during pregnancy. It explains that exposure to ionizing radiation, illegal drugs like cocaine and methamphetamine, excessive alcohol, and cigarette smoking during pregnancy can harm the fetus and increase risks of birth defects, low birth weight, fetal alcohol syndrome, and other health issues. The effects depend on the type of substance, dose, and gestational age at time of exposure.
Genetic counseling is a process that provides information and support to individuals and families regarding genetic disorders and inherited diseases. It involves taking a family history, constructing a pedigree, estimating disease risks, communicating information to clients, and discussing management options. The goals are to provide accurate information about genetic conditions, allow for informed reproductive choices, and offer support from healthcare professionals. Genetic counselors work with a variety of populations for prenatal, pediatric, adult, and cancer counseling. They help clients understand genetic information and make personal decisions regarding testing and management. Nurses play a role in recognizing genetic disorders, assisting with the counseling process, and providing psychosocial support to families.
Genetic testing identifies changes in a person's chromosomes, genes, or proteins that can confirm or rule out genetic disorders. There are several types of genetic testing including newborn screening, diagnostic testing, carrier testing, prenatal testing, and predictive testing. While genetic testing provides information to guide medical decisions, it also raises ethical issues regarding privacy, discrimination, stigmatization and justice. Informed consent, confidentiality of results, and non-directiveness are important principles when considering genetic testing. The appropriate use and regulation of genetic information continues to be debated.
This document discusses sex-linked inheritance and errors in transmission (mutations). It begins by introducing sex-linked inheritance, which was first discovered by Thomas Morgan in experiments with fruit flies. It describes how the X and Y chromosomes differ between males and females. The document then discusses X-linked dominant and recessive inheritance patterns. It defines gene mutations as changes in the nitrogen base sequence. The main types of errors in transmission discussed are substitutions, insertions, deletions, inversion and nonsense mutations. It provides examples of each type of mutation and how they can alter protein coding and cause genetic abnormalities.
Chromosomal problems cause most miscarriages, which are the loss of a pregnancy before 20 weeks of gestation. Recurrent spontaneous abortion is defined as two or more consecutive pregnancy losses before 20 weeks and can be caused by infections, hormonal imbalances, thyroid disease, genetic factors like chromosomal abnormalities, and immunological issues like antiphospholipid syndrome where the immune system mistakenly attacks substances involved in blood clotting. Threatened abortion refers to bleeding in the first trimester that may or may not result in miscarriage, while inevitable abortion is diagnosed when bleeding is accompanied by cervical changes and fetal demise.
Genetic disorders and practical application of genetics in nursingArifa T N
This document discusses Down syndrome, which is caused by trisomy 21 resulting in an extra copy of chromosome 21. It presents in 1 in 800-1000 births and risk increases with maternal age. Clinical features include intellectual disability, flat facial features, congenital heart defects, and other physical signs. Management involves genetic counseling of parents on the condition, recurrence risks, and options for antenatal testing and diagnosis. Down syndrome results in lifelong intellectual and developmental disability and medical issues, though early support services can help maximize quality of life.
The document provides an overview of genetic counseling. It defines genetic counseling as a process that helps people understand medical, psychological and familial implications of genetic contributions to disease. This involves interpreting family histories, providing education, facilitating informed decision making, and offering support. The document outlines the aims, indications, information conveyed, and steps involved in genetic counseling sessions. It also describes the roles of genetic counselors and nurses in counseling clients.
This document discusses the inheritance of common pediatric genetic disorders. It describes five types of genetic disorders: chromosomal disorders, single gene disorders, polygenic disorders, mitochondrial disorders, and somatic cell disorders. Two specific chromosomal disorders are discussed in detail: Down syndrome and Turner syndrome. Down syndrome is caused by trisomy 21 and is characterized by physical and mental retardation. Turner syndrome is caused by a missing or structurally abnormal X chromosome in females and can cause short stature and infertility. Both require lifelong medical care and treatment of associated health issues.
Ques-1 Prenatal diagnosis has both positive and potentially negativ.pdfapleathers
Ques-1: Prenatal diagnosis has both positive and potentially negative consequences. While it is
most often used to detect serious problems with the fetus, the technology can also be used
potentially to select embryos based on sex, appearance, Where do you think we should draw the
line in allowing parents to use prenatal diagnosis
Answer:
Genetic testing is performed for prenatal diagnosis to know any chromosomal or genetical -
inherited abnormalities of implanted human embryo. It has positive consequence, as some
couples would like to avoid getting a baby with genetic abnormalities. However, there are
negative consequences such as various \"ethical and moral issues of prenatal diagnosis as
explained below. Therefore, it is crucial to draw a line when conducting prenatal diagnosis
finally a couple musty get legal permissions to undergo prenatal diagnosis.
Screening tests for genetic issues can be performed in the first trimester, second trimester or both
trimesters. Carrier testing is also an option performed prior to or during pregnancy. Carrier
testing provides information as to whether one or both parents are carriers for certain inherited
disorders. The results of these tests are used to determine an appropriate plan of care for the
patient. Genetic testing of the fetus and the parents offers both opportunities and ethical
challenges. As a Registered Nurse, you need to be aware of your own feelings in order to provide
non-biased professional support.
Implications of genetic testing:
Genetic testing is the pre-implantation technology is now currently using in detecting and
screening embryo in order to assess whether the resultant embryos from fertilization are normal
or abnormal genotypically. A registered nurse must advice & support to a couple seeking
guidance about the genetic testing because genetic screening has various ethical and moral
aspects. The major rising ethical challenge is the connection between the pre-selection of
embryos based on meticulous genetic analysis followed by rising discrimination of disabled
people. This ethical problem is associated with selection of future children based on their low
levels of disabilities and abnormalities.
Ethical challenges with preimplantation of genetic testing or diagnosis (PGD):
1. PGD allows embryo selection after pregnancy or even before initiation of pregnancy.
However, this procedure is very controversial and faces a variety of moral ethics that are
completely relies upon moral status of embryo and prenatal diagnosis in selecting progeny
without the use of abortion (medical issue).
2. The major rising ethical challenge is the connection between the pre-selection of embryos
based on meticulous genetic analysis followed by rising discrimination of disabled people, a
psychological moral issue. This ethical problem is associated with selection of future children
based on their low levels of disabilities and abnormalities. A clinic should have license primarily
to perform preimplantatio.
This document discusses preimplantation genetic diagnosis (PGD), which involves in vitro fertilization combined with genetic testing of embryos to select embryos without specific genetic defects or diseases. It notes that PGD requires expertise across fertility medicine, genetics, embryology and molecular analysis. While PGD can reduce health risks for offspring and minimize inheritance of disabilities, children conceived through assisted reproductive technologies like IVF may have a slightly higher risk of birth defects. The use of PGD is increasing for conditions like single gene disorders but it has limitations such as mosaicism and laboratory errors. Guidelines and laws regulate the application of PGD and prohibit its use for non-medical sex selection.
Maternal prenatal and genetic influences on development of defect and disease...OM VERMA
Maternal infections during pregnancy can increase the risk of preterm birth and serious health complications in newborns, including specific organ damage, developmental delay, and even death. Several genetic conditions can also affect fetal development, such as phenylketonuria, tuberous sclerosis complex, myotonic dystrophy, cystic fibrosis, and Turner syndrome. Maternal infections and genetic factors are two categories of conditions that can impact the health of the mother and fetus.
Genetic counseling is a process that provides information about inherited disorders to allow informed choices about reproduction and management. It follows the characteristics of counseling by communicating between counselors and families confronting genetic disorders. The steps of genetic counseling involve taking an accurate history, constructing a pedigree chart, estimating risk, transmitting information, and discussing management options. Genetic counselors work with prenatal, pediatric, adult, and cancer populations to assess risk and discuss testing and management of genetic conditions. Nurses play a role in guiding patients, assisting with decisions, coordinating care, and providing support.
Gene structure and its characteristics: structure of DNA, structure by watson and crick double helix structure, dominant and recessive gene, homologous and heterozygous state, translation, transcription, characteristics of gene.
MATERNAL AGE,MATERNAL DRUG THERAPY PRENATAL TEST AND DIAGNOSIS.pdfOM VERMA
This document discusses prenatal testing and diagnosis. It begins with an introduction to maternal age and risks associated with advanced maternal age such as preeclampsia and genetic disorders. It then describes various prenatal tests including amniocentesis, which analyzes amniotic fluid; chorionic villus sampling, which analyzes placental tissue; and non-invasive options like cell-free DNA screening from a blood sample and triple screening tests. The document outlines both invasive procedures that obtain fetal tissues and non-invasive procedures to screen for potential issues.
Genetic counseling is a communication process that advises individuals and families about genetic disorders and associated risks. It helps them understand medical, psychological and familial implications. The process involves taking a family history, constructing a pedigree, estimating genetic risks, and providing information and management options. Genetic counselors work with prenatal, pediatric, and adult populations, as well as those with cancer risks. They discuss testing options like amniocentesis and address ethical issues around choices like abortion. Nurses play a role in guiding patients, assisting with decisions, coordinating care, and providing support.
practical application of genetics in nursing OM VERMA 2022 slide.pdfOM VERMA
This document discusses genetics and its application in nursing. It defines genetics as the study of heredity and variation in traits from one generation to the next. Genetic nurses perform risk assessments and educate families about genetic conditions. Some key applications of genetics in nursing include genetic testing and counseling, newborn screening to prevent conditions like PKU, and managing care for patients with genetic disorders. The impact on families can include social stigma, discrimination, lowered self-esteem, stress, and lack of opportunities for those with physical or mental health issues resulting from genetic conditions.
Introduction to genetics (Unit - I)for B.Sc. Nursing StudentsBHAVESH SINGH
This document provides an introduction to genetics and cell division. It discusses how Gregor Mendel first observed inheritance of traits from parents to offspring in the 19th century. It defines key genetic terms like gene, allele, chromosome, and explains Mendelian patterns of inheritance. It also summarizes the stages of mitosis and meiosis, comparing somatic and germ cell division. In meiosis, homologous chromosomes pair and may crossover, then separate in Meiosis I to reduce the chromosome number by half in reproductive cells.
1. Mendelian inheritance refers to how genetic information is passed down from parent to child according to certain rules established by Gregor Mendel.
2. A child inherits half of their genetic information from their mother in the form of 23 chromosomes and half from their father in the form of 23 chromosomes, for a total of 46 chromosomes which carry genes.
3. Each parent contributes one copy of every gene, so the child ends up with two copies of each gene, with traits generally being inherited separately rather than linked.
This document discusses genetic testing, including definitions, purposes, types, and techniques. It covers several types of genetic testing such as carrier screening, preimplantation diagnosis, prenatal testing, newborn screening, and predictive adult testing. Techniques discussed include amniocentesis, chorionic villus sampling, fetal cell analysis from maternal blood, analysis of maternal serum markers, ultrasound, autopsy, and culture/microscopy. Ethical considerations around informed consent are also mentioned.
Genetic counseling: Introduction, definition, purposes of genetic counseling, indications of genetic counseling, beneficiaries of genetic counseling, phases of genetic counseling, role of nurse in genetic counseling, application of genetic counseling.
This document discusses genetic testing, including its definition, various types, reasons for testing, results, risks and limitations. It provides information on several genetic testing methods like newborn screening, diagnostic testing, carrier testing, prenatal testing, and preimplantation testing. The document outlines the role of nurses in ensuring informed consent, counseling, confidentiality, and addressing psychological impacts of genetic testing. In summary, the document provides a comprehensive overview of genetic testing, its various applications and the ethical considerations involved.
EFFECT OF RADIATIONS ,DRUGS AND CHEMICAL.pdfOM VERMA
The document discusses the effects of radiation, drugs, chemicals, alcohol, and smoking during pregnancy. It explains that exposure to ionizing radiation, illegal drugs like cocaine and methamphetamine, excessive alcohol, and cigarette smoking during pregnancy can harm the fetus and increase risks of birth defects, low birth weight, fetal alcohol syndrome, and other health issues. The effects depend on the type of substance, dose, and gestational age at time of exposure.
Genetic counseling is a process that provides information and support to individuals and families regarding genetic disorders and inherited diseases. It involves taking a family history, constructing a pedigree, estimating disease risks, communicating information to clients, and discussing management options. The goals are to provide accurate information about genetic conditions, allow for informed reproductive choices, and offer support from healthcare professionals. Genetic counselors work with a variety of populations for prenatal, pediatric, adult, and cancer counseling. They help clients understand genetic information and make personal decisions regarding testing and management. Nurses play a role in recognizing genetic disorders, assisting with the counseling process, and providing psychosocial support to families.
Genetic testing identifies changes in a person's chromosomes, genes, or proteins that can confirm or rule out genetic disorders. There are several types of genetic testing including newborn screening, diagnostic testing, carrier testing, prenatal testing, and predictive testing. While genetic testing provides information to guide medical decisions, it also raises ethical issues regarding privacy, discrimination, stigmatization and justice. Informed consent, confidentiality of results, and non-directiveness are important principles when considering genetic testing. The appropriate use and regulation of genetic information continues to be debated.
This document discusses sex-linked inheritance and errors in transmission (mutations). It begins by introducing sex-linked inheritance, which was first discovered by Thomas Morgan in experiments with fruit flies. It describes how the X and Y chromosomes differ between males and females. The document then discusses X-linked dominant and recessive inheritance patterns. It defines gene mutations as changes in the nitrogen base sequence. The main types of errors in transmission discussed are substitutions, insertions, deletions, inversion and nonsense mutations. It provides examples of each type of mutation and how they can alter protein coding and cause genetic abnormalities.
Chromosomal problems cause most miscarriages, which are the loss of a pregnancy before 20 weeks of gestation. Recurrent spontaneous abortion is defined as two or more consecutive pregnancy losses before 20 weeks and can be caused by infections, hormonal imbalances, thyroid disease, genetic factors like chromosomal abnormalities, and immunological issues like antiphospholipid syndrome where the immune system mistakenly attacks substances involved in blood clotting. Threatened abortion refers to bleeding in the first trimester that may or may not result in miscarriage, while inevitable abortion is diagnosed when bleeding is accompanied by cervical changes and fetal demise.
Genetic disorders and practical application of genetics in nursingArifa T N
This document discusses Down syndrome, which is caused by trisomy 21 resulting in an extra copy of chromosome 21. It presents in 1 in 800-1000 births and risk increases with maternal age. Clinical features include intellectual disability, flat facial features, congenital heart defects, and other physical signs. Management involves genetic counseling of parents on the condition, recurrence risks, and options for antenatal testing and diagnosis. Down syndrome results in lifelong intellectual and developmental disability and medical issues, though early support services can help maximize quality of life.
The document provides an overview of genetic counseling. It defines genetic counseling as a process that helps people understand medical, psychological and familial implications of genetic contributions to disease. This involves interpreting family histories, providing education, facilitating informed decision making, and offering support. The document outlines the aims, indications, information conveyed, and steps involved in genetic counseling sessions. It also describes the roles of genetic counselors and nurses in counseling clients.
This document discusses the inheritance of common pediatric genetic disorders. It describes five types of genetic disorders: chromosomal disorders, single gene disorders, polygenic disorders, mitochondrial disorders, and somatic cell disorders. Two specific chromosomal disorders are discussed in detail: Down syndrome and Turner syndrome. Down syndrome is caused by trisomy 21 and is characterized by physical and mental retardation. Turner syndrome is caused by a missing or structurally abnormal X chromosome in females and can cause short stature and infertility. Both require lifelong medical care and treatment of associated health issues.
Ques-1 Prenatal diagnosis has both positive and potentially negativ.pdfapleathers
Ques-1: Prenatal diagnosis has both positive and potentially negative consequences. While it is
most often used to detect serious problems with the fetus, the technology can also be used
potentially to select embryos based on sex, appearance, Where do you think we should draw the
line in allowing parents to use prenatal diagnosis
Answer:
Genetic testing is performed for prenatal diagnosis to know any chromosomal or genetical -
inherited abnormalities of implanted human embryo. It has positive consequence, as some
couples would like to avoid getting a baby with genetic abnormalities. However, there are
negative consequences such as various \"ethical and moral issues of prenatal diagnosis as
explained below. Therefore, it is crucial to draw a line when conducting prenatal diagnosis
finally a couple musty get legal permissions to undergo prenatal diagnosis.
Screening tests for genetic issues can be performed in the first trimester, second trimester or both
trimesters. Carrier testing is also an option performed prior to or during pregnancy. Carrier
testing provides information as to whether one or both parents are carriers for certain inherited
disorders. The results of these tests are used to determine an appropriate plan of care for the
patient. Genetic testing of the fetus and the parents offers both opportunities and ethical
challenges. As a Registered Nurse, you need to be aware of your own feelings in order to provide
non-biased professional support.
Implications of genetic testing:
Genetic testing is the pre-implantation technology is now currently using in detecting and
screening embryo in order to assess whether the resultant embryos from fertilization are normal
or abnormal genotypically. A registered nurse must advice & support to a couple seeking
guidance about the genetic testing because genetic screening has various ethical and moral
aspects. The major rising ethical challenge is the connection between the pre-selection of
embryos based on meticulous genetic analysis followed by rising discrimination of disabled
people. This ethical problem is associated with selection of future children based on their low
levels of disabilities and abnormalities.
Ethical challenges with preimplantation of genetic testing or diagnosis (PGD):
1. PGD allows embryo selection after pregnancy or even before initiation of pregnancy.
However, this procedure is very controversial and faces a variety of moral ethics that are
completely relies upon moral status of embryo and prenatal diagnosis in selecting progeny
without the use of abortion (medical issue).
2. The major rising ethical challenge is the connection between the pre-selection of embryos
based on meticulous genetic analysis followed by rising discrimination of disabled people, a
psychological moral issue. This ethical problem is associated with selection of future children
based on their low levels of disabilities and abnormalities. A clinic should have license primarily
to perform preimplantatio.
This document discusses preimplantation genetic diagnosis (PGD), which involves in vitro fertilization combined with genetic testing of embryos to select embryos without specific genetic defects or diseases. It notes that PGD requires expertise across fertility medicine, genetics, embryology and molecular analysis. While PGD can reduce health risks for offspring and minimize inheritance of disabilities, children conceived through assisted reproductive technologies like IVF may have a slightly higher risk of birth defects. The use of PGD is increasing for conditions like single gene disorders but it has limitations such as mosaicism and laboratory errors. Guidelines and laws regulate the application of PGD and prohibit its use for non-medical sex selection.
Genetic testing identifies changes in chromosomes, genes, or proteins. There are several types of genetic tests, including newborn screening, diagnostic testing, carrier testing, prenatal testing, preimplantation testing, predictive/presymptomatic testing, and forensic testing. Genetic tests are performed on samples like blood or tissue and require informed consent. Results can provide health information but also have limitations since not all genetic causes are understood.
Genetic counseling involves assessing family histories, providing education about genetic disorders and testing options, and offering counseling support. The goals are to increase understanding of risks and help patients adapt to their situation and make informed decisions. Genetic counselors specialize in areas like prenatal testing, cancer genetics, and adult-onset conditions. They help patients understand screening, diagnostic, and predictive genetic tests and determine the implications of results. Adult genetics clinics serve those diagnosed with later-onset genetic disorders that involve multiple medical specialties.
Genetic testing (evaluation) analyzes human DNA, RNA, chromosomes, proteins and certain metabolites to detect heritable diseases, mutations, phenotypes or karyotypes. It can be used for diagnostic, predictive, presymptomatic or carrier testing purposes. There are several types of genetic tests including newborn screening, diagnostic testing, carrier testing, prenatal testing, preimplantation testing, predictive/presymptomatic testing and forensic testing. Genetic testing involves analyzing samples like blood or tissue to identify changes in genes or chromosomes. While it provides information to guide healthcare decisions, genetic testing also involves risks like inconclusive results or impact on relationships.
Disabilities can occur at any age and for various reasons, and are defined as impairments, limitations in activities, or restrictions in participation. Causes of disabilities include both prenatal factors like genetic disorders, infections, or environmental exposures during pregnancy, as well as perinatal and postnatal causes such as prematurity, injuries, or illnesses. Prevention strategies aim to identify risks early through preconception counseling, prenatal screening, and newborn screening in order to provide early treatment or rehabilitation interventions that can reduce disabilities.
1. Genetic disorders are caused by changes or mutations in genes or chromosomes. Methods to prevent genetic disorders include genetic screening and testing, genetic counseling, vaccinations, and supplementation.
2. Genetic screening programs like prenatal screening, carrier screening, neonatal screening, and premarital screening help identify risks for genetic conditions. Techniques include blood tests, ultrasounds, and in some cases tissue sampling.
3. Factors that can influence fetal development and potentially cause birth defects include certain medications, illnesses, nutritional deficiencies, and environmental exposures called teratogens. Maintaining good prenatal health through diet, exercise, avoiding teratogens, and taking folic acid can help reduce risks.
Prevalence of Congenital Malformations in Newborns Delivered in a Rural Medic...iosrjce
IOSR Journal of Dental and Medical Sciences is one of the speciality Journal in Dental Science and Medical Science published by International Organization of Scientific Research (IOSR). The Journal publishes papers of the highest scientific merit and widest possible scope work in all areas related to medical and dental science. The Journal welcome review articles, leading medical and clinical research articles, technical notes, case reports and others.
Genetic Alliance UK aims to improve lives affected by genetic conditions. Nick Meade discusses preimplantation genetic diagnosis (PGD), which enables couples at high risk of passing on genetic conditions to screen embryos and transfer only unaffected ones. He explains that PGD requires clinical eligibility, funding approval, and the condition to be deemed serious by regulators. Access also depends on regulatory and financial criteria. Areas of ongoing discussion include what conditions qualify and regulating PGD's use.
The document discusses ethical dilemmas in clinical genetics. It begins with an introduction to ethical dilemmas and frameworks for ethical decision making. It then addresses various issues in genetic engineering, genetic testing, and genetic counseling. Some key issues discussed include risks of experimental animals and creating new diseases, predictive testing and determining who should access results, prenatal testing and potential pressure not to have children with disabilities. The document stresses the importance of informed consent, counseling, and respecting individual values in navigating these complex ethical issues.
Genetic counseling is a process that employs scientific knowledge of genetics and communication skills to help individuals understand genetic diagnoses and their implications. It involves gathering a family history, educating about genetic conditions and testing, and counseling to promote informed decision making. The goal is to address concerns relating to hereditary disorders and support adaptation to genetic risks or conditions.
Genetic testing in neurology is becoming more common and offers potential for diagnosis confirmation and prognosis. The neurologist needs to be aware of testing indications, standards, and risks of inappropriate use. Genetic testing can be used for diagnostic, prenatal, predictive, carrier, and disease risk purposes, as well as pharmacogenetics. Providing counseling before and after testing is important to discuss implications and avoid misinterpretations of results.
Genetic counseling is a process that involves assessing individual or family risk for a genetic disorder, explaining options, and providing support. A genetic counselor reviews family history, medical records, determines disease risk, explains hereditary concepts, arranges for genetic testing, and provides guidance and referrals. They assist with informed decision making regarding pregnancy, screening, and management options. Areas of practice include cancer, pediatric care, prenatal testing, and screening for inherited metabolic disorders. New technologies allow for expanded multi-gene panel testing to efficiently screen for multiple conditions.
This document discusses human genetics and health. It notes that genetic disorders and non-communicable diseases have become a major cause of morbidity and mortality as environmentally related disorders have decreased. An individual's health is based on both uncontrollable genetic factors and controllable factors like diet and lifestyle. The document then provides information on genetics, prevalence of genetic disorders, types of genetic disorders, diseases with genetic predisposition, and the role of genetics in predisposing individuals to conditions. It discusses prevention, screening, counseling, gene therapy, eugenics, and genetic services.
This document discusses genetic disorders, their causes, symptoms, types, diagnosis, and treatment/prevention. The key points are:
1. Genetic disorders occur due to mutations in genes from parents that cause proteins to malfunction or be missing, disrupting cellular processes.
2. The leading causes are mutations in one or multiple genes inherited from parents or occurring spontaneously, and chromosomal abnormalities.
3. Symptoms vary but can include cognitive issues, developmental delays, physical abnormalities, and medical conditions depending on the disorder.
4. Genetic disorders are categorized as monogenic, multifactorial, mitochondrial, or chromosomal depending on their genetic basis.
5. Diagnosis involves genetic
This document proposes a study to determine the prevalence and risk factors of jaundice among newborn babies in Plateau State, Nigeria. Jaundice is common in newborns worldwide and an estimated 60-80% of babies develop jaundice in their first week. However, there is a lack of local data on jaundice incidence and risks in Plateau State. The study aims to measure jaundice prevalence at two hospitals and identify associated risk factors. A cross-sectional survey of 100 mothers will collect data on demographics, pregnancies, babies, and healthcare practices. Findings will help develop better prevention and management of newborn jaundice in the state.
This document summarizes a presentation on preimplantation genetic diagnosis (PGD) in New Zealand. PGD combines IVF with genetic testing of embryos to screen for inherited disorders and conditions. It is currently regulated under New Zealand law and allowed only to select embryos without serious genetic disorders or diseases. The presentation outlines the science of PGD, its potential uses and limitations, ethical concerns around disability, embryo status, and playing God. It also reviews New Zealand's legal framework for PGD, which prohibits sex selection but allows PGD for established medical reasons through a regulatory body. There is discussion of issues like funding, application triaging, and whether the guidelines should be narrowed or broadened going forward.
This document summarizes a presentation on preimplantation genetic diagnosis (PGD) in New Zealand. PGD combines IVF with genetic testing of embryos to screen for inherited disorders and conditions. It is currently regulated under New Zealand law and allowed only to select embryos without serious genetic disorders or diseases. The presentation outlines the science of PGD, its potential uses and limitations, ethical concerns around disability, embryo status, and playing God. It also reviews New Zealand's legal framework for PGD, which prohibits sex selection but allows PGD for established medical reasons through a regulatory body. There is discussion on further developing the guidelines to consider expanded but non-medical uses of PGD.
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Genetic Testing in Neonates and Children - Screening for chromosomal abnormalities
1. Genetic Testing in Neonates and Children
Dr. Prakash Patil
PhD (Medicine, Japan)
Senior Scientist, CRL
KSHEMA, NITTE Deemed to be University
Mangaluru - 575018
Screening for Congenital abnormalities
29-07-2020 Dr. Patil Prakash 1
2. • Congenital abnormalities are caused by problems during the fetus
development before birth.
• Congenital anomalies or birth defects can be defined as structural or
functional anomalies (e.g. metabolic disorders) that occur during
intrauterine life and can be identified prenatally, at birth or later in life.
• About 1 in 35 children are born with congenital anomalies that will affect
the way they look, develop, or function.
• It is important for mother and father to be healthy and have good
medical care before and during pregnancy to reduce the risk of
preventable congenital anomalies.
Congenital abnormalities
29-07-2020 Dr. Patil Prakash 2
3. • The prevalence of birth defects in India is 6 - 7% which translates to around 1.7
million birth defects annually.
• Common birth defects include
• congenital heart disease (8 - 10 per 1000 live births),
• congenital deafness (5.6 - 10 per 1000 live births), and
• neural tube defects (4 - 11.4 per 1000 live births)
• Some birth defects are clinically apparent at birth; others may only be diagnosed
later in life.
• The structural defect such as spina bifida is obvious at birth whereas hemophilia a
functional defect (a bleeding disorder) is not usually obvious until infancy or
childhood.
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4. • In nearly 50% of cases the exact cause of congenital anomaly could not be
identified, although some known risk factors are linked with the malformation.
• Congenital anomalies can be caused by
• single gene defects,
• chromosomal aberrations,
• multifactorial inheritance (interaction of genes and the environment),
• environmental teratogens, and
• micronutrient deficiencies
• India Newborn Action Plan (INAP) formulated in September 2014, has integrated
the approaches for the prevention and care of newborn with birth defects into
primary health care, with an emphasis on maternal and child health.
Pre-conception
causes
Post-conception causes
29-07-2020 Dr. Patil Prakash 4
5. Malformations:
• partial or complete non-formation or alterations in the normal structure
• Ex.: Cleft lip and cleft palate
Disruptions:
• morphological change of the already formed structure due to exposure to
destructive process
• Ex.: amniotic band disruption
Types of abnormalities
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6. Deformations:
• due to mechanical forces that affect a part of the foetus over a long period.
• Ex: talipes equinovarus deformity (Club foot)
Syndrome:
• is a group of anomalies occurring together due to a common cause
• Ex.: Down syndrome
Types of abnormalities
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7. • Socioeconomic and demographic factors
• more frequently seen among low-income families - about 94%
• due to poor access to sufficient and healthy food, increased exposure to various
infections
• advanced maternal age increases the risk - Down syndrome
• Genetic factors
• consanguineous marriage - increases the prevalence
• nearly doubles the risk in first-cousin unions
• consanguinity rates in India vary from 1 - 4% in the northern region to 20 - 30%
in the southern region
Risk factors
abnormal cell division - extra
genetic material from ch. 21
29-07-2020 Dr. Patil Prakash 7
8. • Infections
• Rubella infection - miscarriage, deafness, intellectual disability, heart defects and
blindness
• Toxoplasmosis infection - hearing loss, vision problems and intellectual disability
• Sexually transmitted infections (STIs) - syphilis, cytomegalovirus
• Maternal nutritional and health status
• Iodine deficiency, folic acid deficiency, excessive Vitamin A intake
• For Eg, folic acid insufficiency - risk of having a baby with a neural tube defect
• Obesity, diabetes mellitus and seizure disorders may increase the risk
Risk factors
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9. • Environmental factors
• Exposure to certain medications, psychoactive drugs, tobacco, radiation and pesticides
during pregnancy may increases the risk of congenital anomalies.
• Working or living near, or in, waste sites, smelters or mines may also be a risk factor
• Certain drugs when taken during pregnancy may cause birth defects - these drugs are
called teratogenic drugs
• Easy availability of drugs along with inadequate health services
• Intake of non-prescribed drugs and self-medication are also common problems
Risk factors
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10. Defined as
“examining a sample of blood or other body fluids or tissue for bio-
chemical, chromosomal, or genetic markers that indicate the presence or
absence of genetic disease”
It is a type of medical test that identifies the changes in chromosomes,
genes, or proteins
Genetic Testing
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11. • Diagnostic testing
DNA based tests are used to identify or rule out a specific genetic or
chromosomal condition when clinical signs and symptoms suggest the diagnosis
Ex. Duchenne muscular dystrophy, spinal muscular atrophy, Friedriech ataxia,
Fragile X syndrome, Pompe disease, etc.
Management of cystic fibrosis – for use of specific and safe drugs -
Pharmacogenetic testing
Types of Genetic Testing
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12. • Carrier testing
is used to identify people who carry one copy of a gene mutation that, when
present in two copies, causes a genetic disorder
usually requested when a relative is affected with an autosomal recessive or an
X-linked disease or when parents are carriers
allow the carriers to be well prepared to choose their partners and take
appropriate reproductive decisions
there is consensus among geneticists and pediatricians that children should not
be tested for carrier status
Types of Genetic Testing
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13. • Pre-symptomatic testing
For early onset disorders: – for preventive and intervention measures
Ex.: Juvenile hemochromatosis - HFE2 and HAMP genes are mutated
Wilson disease and retinoblastoma – RET mutation
For late onset disorders: - adult-onset conditions, a different sort of complexity,
helps to plan for the future, availing life insurance, and making reproductive
decisions
Ex.: Huntington disease – a brain disorder, neuronal problems
Breast cancer, Diabetes, etc.
Types of Genetic Testing
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14. • Other tests
Balanced chromosomal translocation Testing
Cancer Susceptibility Testing
Prenatal and newborn screening Testing
Commercial Testing – Pre-implantation Testing
Types of Genetic Testing
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15. • Standard Karyotype analysis or Karyotyping
examines the number and structure of chromosomes in the cells
Genetic Tests or Techniques
used to diagnose a genetic disorder
in a newborn or child with symptoms
helps to undergo pre-conception testing
before deciding to become pregnant,
have an option for prenatal diagnosis
during the next pregnancy
29-07-2020 Dr. Patil Prakash 15
16. • Fluorescence In Situ Hybridization (FISH)
a molecular cytogenetic technique that uses fluorescent probes that binds to
specific regions of a chromosome
Genetic Tests or Techniques
used to diagnose a genetic disorder
in a newborn or child with symptoms
used for detection of aneuploidy,
microdeletion / micro-duplication
syndromes, subtelomeric
rearrangements
used for testing disease-specific
deletion/duplication
29-07-2020 Dr. Patil Prakash 16
17. • Chromosomal Microarray Analysis (CMA) or Microarray
a whole genome test available to detect a wide range of genetic syndromes
caused by microdeletions and duplications in the genome
Genetic Tests or Techniques
highly useful technique for
detection of submicroscopic
deletions and duplications
across the genome
diagnosis of ailments related with
development delays, autism or any
kind of genetic abnormalities.
highly useful in prenatal diagnosis29-07-2020 Dr. Patil Prakash 17
18. • Next Generation Sequencing (NGS)
a high-through put sequencing technique to detect novel mutations or deletions
or insertions in the genes causing genetic disorders
highly expensive, need expertise, specific requirements.
Genetic Tests or Techniques
29-07-2020 Dr. Patil Prakash 18
19. • Medical benefits:
DNA testing plays a major role in arriving at definitive diagnosis in diseases such as
spinal muscular atrophy, Friedreich ataxia, Fragile X syndrome, etc
• Psychological issues:
The report can reduce the uncertainty and offer emotional relief if negative
Positive result is also helpful in preparing for the future as in planning education,
managing finances and allows time to adjust and avoid emotional problems
• Reproductive issues:
may not directly benefit the tested children as it will only be useful in reproductive or
family planning decisions
Benefits
29-07-2020 Dr. Patil Prakash 19
20. • Genetic tests may prompt further investigations and unnecessary treatments
with no proven benefits thus causing distress and escalating the cost.
• A positive test may cause unwarranted anxiety about the possible early signs of
the disorder before any genuine manifestations actually set in.
• Revealing the results can impair the self-esteem and lead to discrimination in
education, employment, insurance etc.
• Testing at an early age deprives the child’s right to decide about pre-symptomatic
diagnosis as an adult.
Potential Harms
29-07-2020 Dr. Patil Prakash 20
21. • Through genetic testing of large segments of the population or
specific individuals requesting it, scientists can identify whose genes
predispose them or their children to certain diseases or disorders.
• In some cases this knowledge may allow a person to undergo
treatment, in others it may cause a person to refrain from having
children.
Genetic Testing – Controversial?
29-07-2020 Dr. Patil Prakash 21
22. • Unfortunately, though, no cure is currently possible for the majority
of conditions discovered through genetic testing.
• The practice of genetic testing and screening has created moral
controversies about who should be tested and what should be done
with the results
29-07-2020 Dr. Patil Prakash 22
24. Pre-conception Screening
• To identify those at risk of conceiving a child with a birth defect since
inherited disorders tend to cluster within families
• Using family history to identify individuals at risk of having affected children
• Carrier screening for common recessive disorders – β thalassemia and sickle
cell anemia
Screening – when?
β thalassaemia sickle cell anemia
29-07-2020 Dr. Patil Prakash 24
25. Peri-conception Screening
• Offering genetic counseling to women 35 years or older
• First trimester screening - a combination of two tests between 11th and 13th weeks
Screening – when?
Nuchhal translucency test:
with the help of ultrasound thickness of the area at the
back of the neck (foetus) is measured.
An increase in the thickness can be a sign of Down
syndrome
29-07-2020 Dr. Patil Prakash 25
26. Peri-conception Screening
First trimester blood test: - indicates certain birth defects
Screening – when?
low levels of pregnancy associated plasma protein A
(PAPP-A)
high levels of beta human chorionic gonadotropin
(beta-hCG) hormone
29-07-2020 Dr. Patil Prakash 26
27. Peri-conception Screening
Second trimester screening: are advised between 15th and 20th weeks of pregnancy
• Triple screen test / quad screening: a maternal blood screening test that involves three specific
substances: Alpha-fetoprotein test (AFP), human chorionic gonadotrophin (HCG), and estriol
estimation. When a test for the hormone inhibin A is added, it's called a quad screening.
Screening – when?
29-07-2020 Dr. Patil Prakash 27
28. Peri-conception Screening
Additional Tests – not routinely advised but needed for accurate diagnosis of rare & high-risk disorders
Amniocentesis:
• amniotic fluid can be used to detect genetic disorders in the foetus
• for Down syndrome, muscular dystrophy, sickle cell anaemia, thalassemia and cystic fibrosis
Chorionic villus sampling (CVS):
• cells from the chorionic villi (tissues from placenta) are examined
• for chromosomal disorders such as Down syndromes
Screening – when?
29-07-2020 Dr. Patil Prakash 28
29. Peri-conception Screening
Additional Tests – not routinely advised but needed for accurate diagnosis of rare & high-risk disorders
Cell-free fetal DNA:
• Uses cell-free DNA from the plasma of pregnant women
• for screening fetal aneuploidy in in women 35 years or older, or women with a history of trisomy-
affected offspring, and women with positive first-trimester or second-trimester screening test
results
Cordocentesis:
• a small sample of the fetal blood is withdrawn from the umbilical cord for detection of fetal
chromosome abnormalities after 17 weeks of pregnancy.
Screening – when?
29-07-2020 Dr. Patil Prakash 29