growth and development of prenatal period

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growth and development of prenatal period

  1. 1. GROWTH AND DEVELOPMENT OF PRENATAL PERIOD SHINU K ANTONY Ist YEAR MSc NURSING GOVT COLLEGE OF NURSING ALAPPUZHA
  2. 2. PERIODS IN PRENATAL DEVELOPMENT • Ovular period or germinal period: This lasts for first 2 weeks following ovulation. • Embryonic period: Begins at 3rd week following ovulation and extends upto 10 weeks of gestation • Fetal period: Begins after 8th week following conception and ends in delivery
  3. 3. GAMETOGENESIS Gametogenesis is a biological process by which diploid or haploid precursor cells undergo cell division and differentiation to form mature haploid gametes
  4. 4. FERTILIZATION Human fertilization is the union of a human egg and sperm, usually occurring in the ampulla of the uterine tube
  5. 5. ZYGOTE
  6. 6. •Days 14-21 post conception: notochord develops, ectoderm thickens to form neural plate and neural folds. •Days 21-28 post conception: neural folds fuses to form neural tube. Four primitive cardiac chambers. First heart beat on day 21. •Weeks 4-6 post conception: optic vesicles appear, complete neural tube closure (D30). Limb buds appear. Formation of face. •Weeks 8-12 post conception: external genetalia develop
  7. 7. PRINCIPLE EVENTS……………. •Weeks 20: skin is covered with lanugo. Vernix caeosa is present. •Weeks 28: testes descend to the internal inguinal ring •Weeks 36: one testicle usually descends into the scrotum. Lanugo tends to disappear. •Weeks 40: both the testicles descend into the scrotum. Nails project beyond the finger tips. Posterior fontanelle is closed.
  8. 8. Nutrition: Three stages of fetal nutrition •Absorption •Histotrophic transfer •Hematotrophic Fetal blood: • Haematopoiesis first in yolk sac by 14th day. •10th week the liver becomes the major site. Leucocyte: Leukocytes appear after 2 month of gestation Urinary system : • the end of first trimester- nephrons are active •near term the urine production rises to 650ml per day.
  9. 9. skin : • At 16th week, lanugo •Sebaceous glands at 20th week and and the sweat glands later. Gastrointestinal tract: •As early as 10-12week, the fetus swallows amniotic fluid. •The meconium appears from 20th week. Respiratory system: • At 28th week, alveoli expand and are lined by cuboidal epithelium. •At the end of 24th week lung surfactant Fetal endocrinology: Growth hormone, ACTH, prolactin, TSH and gonadotropin hormones are produced by fetal pituitary as early as the 10th week.
  10. 10. FETAL CIRCULATION
  11. 11. Systemic supervision (examination and advice) of a women during pregnancy is called antenatal / prenatal care. It comprises of •Careful history taking and examination (general and obstetrics) •Advice given to the pregnant women
  12. 12. AIMS •To screen the high risk cases •To prevent or detect and treat at the earliest any complications •To ensure continued medical surveillance and prophylaxis •To educate the about the physiology of pregnancy and labour by demonstrations, charts and diagrams •To discuss with the couple the place, time, mode and the delivery, provisionally and the care of new born •To motivate to the couple the need of family planning and also appropriate advice to the couple seeking MTP
  13. 13. The objective is to ensure a normal pregnancy with delivery of a healthy baby from a healthy mother.
  14. 14. PROCEDURES AT FIRST VISIT HISTORY COLLECTION PHYSICAL EXAMINATION General examination Obstetrical examination investigations
  15. 15. PROCEDURE AT SUBSEQUENT VISIT Objective To assess fetal well being Lie, presentation, position and number of fetus Anemia, preeclampsia, amniotic fluid volume and fetal growth To organize specialist antenatal clinics for patients with problem like cardiac disease and diabetics. To select time for USG, amniocentesis or CVS when indicated.
  16. 16. AIMS OF ANTENATAL FETAL MONITORING •To ensure satisfactory growth and well being of the fetus throughout pregnancy •To screen out the high risk factors that affect the growth of the fetus
  17. 17. INDICATIONS OF ANTEPARTUM FETAL MONITORING •Pregnancy with obstetric complications •Pregnancy with medical complications •Others like advanced maternal age, previous still birth, birth of a baby with structural abnormality etc •Routine antenatal testing
  18. 18. NONINVASIVE PRENATAL TESTS •Fetal ultrasonography •Fetal echocardiogram •Computerized Tomography and MR imaging •MS-AFP and triple test •Fetal Nuchal Translucency
  19. 19. INVASIVE PRENATAL TEST Aminocentesis Chorionic villus sampling Cordocentesis or percutaneous umbilical blood sampling Fetal tissue sampling
  20. 20. METHODS OF PRENATAL DIAGNOSIS AMNIOCENTESIS CHORION VILLOUS SAMPLING ULTRASONOGRAPHY
  21. 21. METHODS OF PRENATAL DIAGOSIS PERCUTANEOUS UMBILICAL BLOOD SAMPLING FETOSCOPY GENETIC TESTING
  22. 22. METHODS OF PRENATAL DIAGNOSIS MATERNAL SERUM SAMPLE PREIMPLANTATION DIAGNOSIS
  23. 23. DEFINITION OF GENETICS The branch of biology that deals with heredity and variation.
  24. 24. BRANCHES OF GENETICS CYTOGENETICS IT IS THE BRANCH OF GENETICS THAT CORRELATES WITH THE STRUCTURE, NUMBER AND BEHAVIOR OF CHROMOSOMES
  25. 25. BRANCHES OF GENETICS MOLECULAR GENETICS IT IS THE BRANCH OF GENETICS WITH THE STRUCTURE AND ACTIVITY OF GENETIC MATERIAL AT MOLECULAR LEVEL.
  26. 26. GENOMICS
  27. 27. PHENOTYPE A PERSONS OBSERVABLE CHARACTERISTICS OF HIS OR HER GENOTYPE GENOTYPE A PERSONS UNIQUE GENETIC DISTRIBUTION
  28. 28. HISTORY OF GENETICS FATHER OF GENETICS GREGOR MENDEL Discovered fundamental law of genetics In 1853 Mendel conducted his experiments on garden peas (Pisum sativum).
  29. 29. CHROMOSO MES In human body 23 pairs of chromosomes are there. Out of these 22 are autosomes and one pair sex chromosomes
  30. 30. STRUCTURE OF DNA Double helix structure
  31. 31. GENE :- Unit of heredity
  32. 32. CELL DIVISION MITOSIS MEIOSIS
  33. 33. STAGES OF CELL DIVISION Interphase Prophase
  34. 34. STAGES OF CELL CYCLE Metaphase Anaphase
  35. 35. STAGES OF CELL CYCLE Telophase
  36. 36. GENETIC TESTING
  37. 37. GENETIC TESTING Genetic testing refers to the analysis of a person’s DNA, chromosomes, proteins or certain metabolites obtained from a sample of blood or other body tissue in order to detect changes that indicate the presence or absence of a genetic condition or a pre disposition to develop one. [JOYCE M BLACK, 2010]  Genetic screening is presumptive identification of an unrecognized genetic predisposition for a future disease in individual or their progency for which preventive or disease course altering interventions exist.
  38. 38. PURPOSES OF GENETIC TESTING To confirm a present condition. To determine whether an individual is a carrier of a genetic condition. To detect fetal abnormalities. To predict diseases in asymptomatic individual
  39. 39. INDICATIONS One or more birth defects A genetic disorder A chromosome abnormality Intellectual development disorder or developmental delay Neuromuscular abnormalities Unexplained metabolic problems Congenital or familial hearing loss of blindness Abnormal sexual development Prenatal exposure to drugs or medications including alcohol Cancer
  40. 40. APPROACHES GENOTYPE PHENOTYPE
  41. 41. TYPES OF GENETIC TESTING NEW BORN SCREENING PRENATAL DIAGNOSIS
  42. 42. TYPES OF GENETIC TESTING DIAGNOSTIC TESTING CARRIER TESTING
  43. 43. TYPES OF GENETIC TESTING PREDICTIVE TESTING PRE IMPLANTATION TESTING
  44. 44. TYPES OF GENETIC TESTING FORENSIC TESTING RESEARCH TESTING
  45. 45. TYPES OF GENETIC TESTING PHARMACOGENOMICS GENETIC ANCESTRY TESTING
  46. 46. METHODS OF GENETIC TESTING  MOLECULAR GENETIC TESTS  CHROMOSOMAL GENETIC TESTS  BIOCHEMICAL GENETIC TESTS
  47. 47. MOLECULAR GENETIC TESTS I. AMPLIFICATION  POLYMERASE CHAIN REACTION  CLONING DNA IN BACTERIA II. SEPERATION AND DETECTION  CELL CULTURES III. DNA ISOLATION
  48. 48. CHROMOSOMAL GENETIC TESTS KARYOTYPING HIGH RESOLUTION BANDING SOMATIC CELL HYBRIDIZATION FLOW CYTOMETRY FLURESCENT INSITU HYBRIDIZATION
  49. 49. BIOCHEMICAL GENETIC TESTS Study of body's enzymes
  50. 50. ASSESSMENT OF FETAL WELLBEING IN LATE PREGNANCY CLINICAL BIOCHEMICAL BIOPHYSICAL
  51. 51. Assessment of fetal lung maturity •Estimation of lecithin:sphingomyelin ratio •Shake’s test or bubbles test or Clement’s •Foam stability index •Thin layered chromatography •Measurement of saturated phosphatidyl choline •Fluorescence polarization •Amniotic fluid optical density •Lamellar body count •Orange colored cells •Amniotic fluid turbidity
  52. 52. ASSESSMENT OF SEVERITY OF RH- ISOIMMUNIZATION It is done by amniocentesis for estimation of bilirubinin the amniotic fluid by spectrometric analysis. The optical density difference at 450nm gives the prediction of the severity of fetal hemolysis
  53. 53. BIOPHYSICAL PROFILE I.FETAL MOVEMENT COUNT 1. Fetal movement count 10 formula 2. Daily fetal movement count (DFMC) 3. Doppler imaging II.VAS III.NONSTRESS TEST iv.BIOPHYSICA L PROFILE v.MODIFIED BPP
  54. 54. parameters Minimal normal criteria score Non stress test(NST) Fetal breathing movements Gross body movement Fetal muscle tone Amniotic fluid Reactive pattern One episode lasting >30sec 3discrete body or limb movements 1 episode of extension (limb or trunk) with return of flexion 1 pocket measuring 2cm in two perpendicular planes 2 2 2 2 2
  55. 55. BPP score Interpretation management 8-10 6 4 0-2 No fetal asphyxia Chronic asphyxia Chronic asphyxia Certain asphyxia Repeat testing at weekly interval If >36wk deliver If >=36wk deliver, if <32wk repeat testing in 4-6hrs Test for 120mts, persistent score <=4 deliver regardless of gestational age
  56. 56. VI.FETAL CARDIOTOCOGRAPHY VII.ULTRASONOGRAPHY VIII.DOPPLER ULTRASONOGRAPHY IX.CONTRACTION STREE TEST
  57. 57. Maternal factor Fetal / infant risks Adolescent age, pregnancy that occurs at the two age extremes <16yrs and 35yrs. Advanced maternal age issues Small maternal size Large maternal size Nutrition Prenatal care Support system Socioeconomic system Preeclampsia IUGR LBW Chronic diseases that affect pregnancy Increased incidence of chromosomal abnormalities Pregnancy related conditions might occur eg. Diabetes, preeclampsia,vaginal bleeding Increased risk of congenital or chromosomal abnormalities IUGR Increased potential for hypoxia during labor and delivery Increased risk for poor fetal nutrition
  58. 58. Chromoso mal(6%) Trisomy 21 (down’s syndrome) Trisomy 18 (Edward’s syndrome Trisomy 13 (Patau’s syndrome) Single gene disorder(5%) 1. Autosomal 2. X-linked Infections( 2%) Rubella CMV Varicella Parvo virus Toxoplas ma Maternal illness (5%) Diabetes epilepsy Drugs & environm ent (1-2%) warfarin lithium dilantin radiation alcohol hypoxia Mutif actori al (20%) neural tube defect s conge nital heart defect s cleft palate & lip CAUSES OF CONGENITAL DISORDERS
  59. 59. SINGLE GENE DISORDERS Autosomal dominant (70%) •achondroplasia •marfans syndrome •neurofibromatosis •recessive (20%) •cystic fibrosis •galactosemia •sickle cell anemia X linked disorders (recessive- 5%, dominant- rare) •hemophilia •duchenne muscular dystrophy •color blindness •fragile X syndrome
  60. 60. PATTERNS OF INHERITANCE I. AUTOSOMAL DOMINANT INHERITANCE  VERTICAL PATTERN OF INHERIANCE  MALES AND FEMALES ARE EQUALLY AFFECTED.  50% OF CHANCE OF INHERITNG NORMAL GENE AND 50% OF MUTATED GENE
  61. 61. PATTERNS OF INHERITANCE II. AUTOSOMAL RECESSIVE INHERITANCE  HORIZONTAL PATTERN OF INHERITANCE.  RELATIVES OF SINGLE GENERATION TEND TO HAVE THE CONDITION.  WHEN CARRIERS HAVE CHILDREN TOGETHER,25% CHANCE OF INHERITING MUTATED GENE.
  62. 62. III. X LINKED DOMINANT INHERITANCE  The sons of a man with an X-linked dominant disorder will not be affected, but all of his daughters will inherit the condition.  A woman with an X-linked dominant disorder has a 50 percent chance of having an affected daughter or son with each pregnancy.
  63. 63. PATTERNS OF INHERITANCE IV. X LINKED RECESSIVE INHERITANCE  . The sons of a man will not be affected, and his daughters will be carrier.  a woman has a 50 percent chance of having sons who are affected and a 50 percent chance of having daughters who carry one copy of the mutated gene.
  64. 64. PATTERNS OF INHERITANCE V. Y LINKED INHERITANCE Male to male transmission. Only males are affected.
  65. 65. PATTERNS OF INHERITANCE VI. MULTIFACTORIAL INHERITANCE Caused by a combination of genetic and environmental factors
  66. 66. GENETIC DISORDERS CHROMOSOMAL ABNORMALITIES (cytogenic disorders) Nondisjunction abnormalities Deletion abnormalities Translocation abnormalities Mosaicism isochromosomes
  67. 67. GENETIC DISORDERS III. SEX CHOMOSOME ABNORMALITIES TURNERS SYNDROME KLINFELTERS SYNDROME
  68. 68. SINGLE GENE DISORDERS •cystic Fibrosis •Tay Sach Disease •Sickle cell disease Autosomal recessive inheritance •Neurofibromatosis •Huntington's disease •Achondroplasia Autosomal dominant inheritance
  69. 69. SINGLE GENE DISORDERS •Vitamin D Resistant Rickets •Rette syndrome X Linked Dominant Inheritance •Hemophilia •Color Blindness •Duchenne Muscular Dystrophy X Linked Recessive Inheritance
  70. 70. SINGLE GENE DISORDERS •Alzheimers Disease •Diabetes Mellitus •Cancer Multifactorial Inheritance
  71. 71. GENETIC DISORDERS •Phenylketonuria •Maple Sugar Urine Disease •Homocystinuria Inborn Errors Of Metabolism
  72. 72. GENETIC COUNSELLING
  73. 73. GENETIC COUNSELLING DEFINITION Genetic counselling is the process in which patients or their relatives at the risk of genetic disorder are made aware of the consequences of the disorder, its transmission ant the ways by which this can be prevented or mitigated. [GANGANE SD, 2008] Genetic counselling is defined as a communication process which deals with the human problems associated with the occurrence or the risk of a genetic disorder in a family [THE AMERICAN SOCIETY OF HUMAN GENETICS, 2008]
  74. 74. AIMS  To obtain a full history.  To establish an accurate diagnosis.  To draw the family tree.  To estimate the risk of a future pregnancy being affected or carrying a disorder.  To give information on prognosis and management.  To provide continued support and follow up.  To do genetic screening
  75. 75. Indications  Advanced parental age  Previous child with or family history of Congenital abnormality  Adult onset genetic disease (pre symptomatic testing)  Consanguinity  Teratogen exposure (occupational abuse)  Repeated pregnancy loss or infertility  Pregnancy screening abnormality  Heterozygous screening based on ethnic risk  Follow up testing
  76. 76. TYPES OF GENETIC COUNSELLING DIRECTIVE NON DIRECTIVE
  77. 77. TYPES OF GENETIC COUNSELLING RETROSPECTIVE PROSPECTIVE
  78. 78. GENETIC COUNSELLING TEAM The family or referring physician The geneticist The nurse The other members of helping professions.
  79. 79. INFORMATIONS CONVEYED  The specific condition or conditions  Knowledge of the diagnosis of the particular condition  Natural history of the condition  Genetic aspect of the condition and recurrence risk  Prenatal diagnosis and prevention  Therapies and referral  Support groups  Follow up  Nondirective counseling  The magnitude of the risk of occurrence or recurrence  The impact of disease on the patient and the family  Modification of disease impact and/ or risk  Anticipated future development
  80. 80. LEGAL AND ETHICAL ISSUES OF GENETIC COUNSELLING
  81. 81. ROLE OF NURSE N GENETIC COUNSELLNG  ASSESSMENT  IDENTIFICATION  PROVIDING EDUCATION,CARE AND SUPPORT  FOLLOW UP
  82. 82. CONGENITAL MALFORMATIONS IN NEWBORN AND THE SURGICAL EMERGENCIES Imperforate anus Esophageal atresia Meconium ileus Exomphalos / omphalocele Congenital diaphragmatic hernia (CDH) Duodenal atersis
  83. 83. Emerging Methods of Fetal Assessment Fetal physiology assessment Fetal magnetoencephalography
  84. 84. NEW TECHNOLOGIES
  85. 85. STEM CELL PRESERVATION AND IMPLANTATION
  86. 86. NEW TECHNOLOGIES
  87. 87. Diseases for applying gene therapy Disease Defect Target cell Severe combined Bone marrow cells or immunodeficiency T-lymphocytes Hemophilia Liver, muscle Cystic fibrosis Lung Cells Cancer Many cell types Neurological diseases Parkinson’s/ Alzheimers Nerve Cells Infectious diseases AIDS, hepatitis B White Blood Cells
  88. 88. BIBLIOGRAPHY  Dedas. A.K screening And Diagnosis Of Fetal Malformation: A Practical Guide. Newdelhi. B. I Publication.2004  Hiralal konar. D. C Dutta’s textbook of obstetrics. 7th ed. India. New central book agency private limted. 2009  Randhawa S. S. atext book of genetics. 3rd ed. India. Vikas & company medical publishers. 2010  Terrikyle & susan carman. Essentials of paediatric nursing. 2nd edition. Newdelhi. Wolters kluwer Lippincott Williams & wilkins. 2013  Anoop kumar tiwar. Human genome project: an overview. Hitkarini journal of modern nursing services (HJMNS). Jan-june 2012.volumeII. issue I. page numbers 22-23  World Health Organisation (WHO). Geneva. Woldheath organisatation;2011. Available from:http://www.whocc.org/

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