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<Korea Institute for Health and Social Affairs in year 2000>
I. Introduction * Reasons for termination of pregnancies Diagnosis of genetic abnormality :4.6% Suspected genetic abnormality :10% * Prenatal Tests accuracy 60% Born normal 97~98% Born defects 2~3%
II. Prenatal Tests The mother checks the health of herself The health and possible birth defects of her child and through information pertaining to labor Prenatal Physical Exams 1) Weight gain 2) Urine test for protein and sugar level 3) Observation for edema 4) Fetal heart beat 5) Screening tests for birth defects , counseling, and cautions 6) Blood tests, and other various testing 7) Internal examinations in the final month of pregnancy Frequency of Prenatal Physical Exams 1-2 Exams every month until 7th month of pregnancy 2 Exams every month in the 8th and 9th month of pregnancy 1 Exam every week in the final month of pregnancy
Prenatal Tests 6-8 weeks: Ultrasound, basic prenatal tests, Iron count(anemia), infections, blood platelet, blood type, RH type, Hepatitis B (antigen, antibody), STDs (syphilis, AIDS), Rubella 8-15 weeks: Ultrasound, amniocentesis, Chorionic villi sampling (if needed) 11-13 weeks: Measurement of nuchal fold thickness (3D ultrasound): Early detection of Down's Syndrome 15-20 weeks: Triple marker test Genetic abnormalities (Screening for Down's Syndrome 60%, neural tube defect 80%) 20-24 weeks: Level II Ultrasound (3D, 4D ultrasound), Gestational Diabetes 26-28 weeks: Gestational diabetes screening 28 weeks: Iron count(anemia) re-test, urine test for level of protein and sugar (test repeated as needed) 36-38 weeks: Pre delivery examination and testing Iron count(anemia), infections, blood platelet, syphilis, liver function, kidney function, blood coagulation test, ECG, chest X-ray, fetal movement
Medical History: No previous illnesses. Became pregnant via test tube fertilization due to atretic oviduct,
Family Medical History: No family history of congenital or genetic defects from both mother and father.
History of present illness: Received fertilized egg transplantation on July 2, 2005 at a private hospital. At 26 weeks of gestation, an ultrasound revealed abnormal observation in the right limbs, and based on the request of the parents, the pregnancy was terminated (26weeks and 6days)
Examination: This is a case in which limb reduction defect of unknown cause resulted with no history of congenital or genetic defect found in the family history of both parents. When the fetus was observed after termination of pregnancy, its weight was 880g, the right arm below the elbow joint was thinned with only 2 fingers, and the right lower limbs were reduced. No defects were found in the fetus's head or spine. (Fig.1,2)
Prenatal Diagnosis(PD) Problems : Case of abortion resulting from birth defect screening test Fig1.2) Right upper limb is short and 2fingers of syndactly is observed. Right leg of neonate is short and thigh is not observed.
In article 14 of Korea's the Mother and Child Health Law, induced abortion is permitted limited to reasons of either parent having eugenic or genetic mental retardation, physical disability, or contagious diseases. As a result, if the either parent does not have genetic abnormalities but an abnormality occurs in the fetus with not identifiable cause, based on the Mother and Child Health Law, the mother is not allowed to receive induced abortion. However, in the reverse scenario, if either parent does have genetic abnormalities but no abnormality occurs in the fetus, lawful induced abortion is possible. Case 1 . Analysis:
Kim is a mother of two children and does not have any notable past history or family medical history.
After becoming pregnant with her third child, the fetus was diagnosed with Congenital diaphragmatic hernia through a birth defect screening test. She received 4 different opinions from 4 different hospitals, and all concurred that the chance of survival after birth is only 50% even after surgery and that health of the baby cannot be guaranteed. The mother was advised to consider induced abortion. Induced abortion was performed at 7 months of pregnancy
Analysis: Congenital diaphragmatic hernia can be treated after birth through surgery and is not a condition that leaves a disability. Only, the patient may experience shortness of breath during exercise due to decreased lung capacity. No problems result in academics, work, or family life. No accurate counseling pertaining to the illness was provided and for financial reasons and for the future of the baby, the pregnancy was terminated.
No abnormalities or defects were observed in prenatal tests.
After birth, received surgery due to respiratory difficulties.
Diagnosed with congenital diaphragmatic hernia. She was dismayed
because she did it was not found through prenatal tests but after
surgery, normal life was possible.
The baby was hospitalized in the intensive care unit for 3 months
but hospital expense did not create a financial burden ( ￦ 2,100,000).
The family is glad the defect was not discovered through prenatal testing
Analysis: Case 2 and case 3 are of babies who were diagnosed with the same defect. In case 2, the defect was discovered through prenatal testing but resulted in induced abortion due to the lack of accurate counseling, and in case 3, the defect was fortunately not discovered in prenatal testing.
Expectant mothers : 1,142 “ would consider induced abortion if congenital defect is suspected or is diagnosed” 80%
In order to obtain stem cells to be used for treating a child with
rare blood diseases or cancer, through test tube technique, embryos with cell structure that perfectly matches the child with the illness is selected, and this is a example of a designer baby
Designer baby "human life is treated as an instrument not as a purpose" "scientific proof of safety" which asks whether such testing procedure will have no repercussions in the future