Congential anomaly Flashcards
(129 cards)
1
Q
A congenital anomaly is caused by ____ and ____
A
Genetic and environmental factors
2
Q
Give two examples of environmental factors causing congenital anomalies.
A
Thalidomide - limb defects; Alcohol - heart defect
3
Q
Thalidomide causes _____, Alcohol causes ____
A
Limb defects; heart defect
4
Q
What percentage of live births have congenital anomalies?
A
4-6%
5
Q
What percentage of infant mortality results from congenital anomalies?
A
0.21
6
Q
Anomaly of structural formation is called ______.
A
Malformation
7
Q
Alteration of already formed structure is called ______.
A
Disruption
8
Q
Remolding of a formed part by mechanical force is called ______.
A
Deformation
9
Q
Example of already formed structure in disruption is _____
A
Amniotic band
10
Q
Example of deformation is ____
A
Club feet
11
Q
Congenital anomaly may come as a ____ or _____
A
Syndrome or VACTERL association
12
Q
*A group of congenital anomalies that often occur together by chance with an unknown exact cause is ___
A
VACTERL association
13
Q
*What differentiates a syndrome from an association?
A
Syndrome has a known cause; association does not
14
Q
*Full meaning of VACTERL
A
V = Vertebral anomalies, A = Anal atresia (imperforate anus), C = Cardiac defects, TE = Tracheo-esophageal fistula, R = Renal anomalies, L = Limb anomalies
15
Q
Teratogens are varied but have _____
A
Same principles
16
Q
Give six examples of principles of teratology.
A
Genetic interaction with environment, Developmental stage of exposure, Dose of teratogen, Duration of exposure, Specificity of pathogenesis, Varied manifestations
17
Q
*Which principle of teratology explains why certain agents affect specific organs?
A
Specificity of pathogenesis
18
Q
List 10 classes of teratogen
A
Infectious agents, Hypethermic infection, Radiation, Chemical agents, Hormones, Maternal disease, Nutritional deficiency, Obesity, Hypoxia, Heavy metals
19
Q
Give three examples of infectious teratogens.
A
Rubella, Cytomegalovirus, HIV
20
Q
Three examples of hyperthermic infections.
A
Mumps, Polio, Hepatitis
21
Q
What effect does ionizing radiation have on developing cells?
A
Kills proliferating cells; effect can linger
22
Q
Give four examples of chemical teratogens.
A
Thalidomide, anticonvulsants, antibiotics, antihypertensives
23
Q
What congenital anomaly is caused by thalidomide?
A
Amelia (absence of limbs)
24
Q
Alcohol, cocaine, cigarette, vitamin A.. these are examples of what kind of teratogenic exposure?
A
Social drugs
25
What has technological advancement made possible in fetal medicine?
Intrauterine fetal testing resulting in possible interventions
26
What is the nature of current prenatal diagnostic tests?
Invasive and very expensive but help confirm diagnosis
27
Invasion of ____ and ___ poses varied risks in intrauterine fetal testing
Fetal/placental unit
28
Name the two most common invasive procedures in prenatal diagnosis but are associated with fetal loss.
Chorionic villus sampling and amniocentesis
29
What has been used routinely since the mid-1970s to test for Down syndrome?
Amniocentesis
30
What are indications for prenatal diagnosis?
Conditions that increase susceptibility to congenital anomalies
31
Give seven risk factors that indicate prenatal diagnosis.
Advanced maternal age, Previous history of anomaly, Recurrent pregnancy loss, Suggestive fetal ultrasonographic findings, Positive maternal screening test findings, Mother medications or infections, Genetic traits in parents
32
What maternal age is considered an indication for prenatal diagnosis?
Advanced maternal age (>35 years)
33
An essential adjunct to prenatal diagnosis is ____
Genetic counselling
34
Chorionic villus sampling and amniocentesis are both ______ procedures.
Invasive
35
What first trimester procedure is used for anatomical survey and done between 18–22 weeks?
Fetal ultrasonography
36
Which first trimester procedure is performed for diagnosis before the 12th week, but not for anatomical abnormalities?
Chorionic villous sampling CVS
37
What procedure is preferred to CVS in multiple gestation and biochemical disorders?
Early amniocentesis done between 14th and 22nd weeks
38
What is indicated in women at substantial risk of a known genetic disorder or with repeated miscarriages due to chromosomal translocation?
Pre-implantation biopsy
39
What is coelocentesis?
Coelomic fluid aspiration
40
Which first trimester procedure is used for chromosomal abnormality diagnosis?
Early amniocentesis
41
CVS is done under ______ following assessments of viability and location.
Ultrasound guidance
42
Approaches to CVS can be ______, _____, or ____ depending on _____
Trans-abdominal, trans-cervical, or transvaginal depending on placental/uterine position
43
Two methods of CVS are ____ or _____ depending on ____
Direct or long-term depending on number of days available
44
The procedure for early amniocentesis is aspiration of _____ (____) from an amniotic fluid pocket with a ____ needle under _____
Amniotic fluid (1ml/week); 22-gauge needle under ultrasonographic guidance.
45
What are two possible complications of first trimester CVS?
Pregnancy loss and Feto-maternal transfusion
46
What complication of first-trimester CVS has doubled risk compared to normal and is associated with increased incidence of anomalies?
Pregnancy loss
47
Relative contraindication for first trimester CVS is ____
Rh iso-immunization from feto-maternal transfusion
48
List six complications associated with amniocentesis.
Uterine bleeding, uterine cramping, leakage of amniotic fluid, Pregnancy loss, Increased risk of clubfoot when performed prior to 12 weeks gestation, Procedural failure due to tenting of the membranes ahead of the needle
49
What is a major setback of coelocentesis?
Pregnancy loss
50
When is CVS performed?
Before the 12th week
51
When is coelocentesis performed?
Between the 6th and 10th week
52
Fetal ultrasonography is traditionally done between ______.
18–22 weeks
53
When is early amniocentesis done?
Between 14th and 22nd weeks
54
Pre-implantation biopsy is performed at what stages?
Eight-cell stage of the embryo or second polar body
55
Uterine bleeding, uterine cramping, leakage of fluid, pregnancy loss, clubfoot risk, procedural failure.. complications of?
Early amniocentesis
56
What procedure is preceded by genetic counseling and detailed ultrasonography in the second trimester?
Mid-trimester amniocentesis
57
When is second trimester amniocentesis performed?
Between the 16th and 18th week
58
Which second trimester procedure involves obtaining fetal blood?
Cordocentesis
59
Which second trimester procedure involves analyzing for chromosomal and genetic disorders?
Mid-trimester amniocentesis
60
During cordocentesis, a sample of fetal blood is obtained from ______
Umbilical vessel close to the cord insertion near the placenta
61
Which second-trimester procedure involves the technique of placental biopsy that allows for karyotyping with very small amounts of placental tissue?
Late Chorionic Villus Sampling
62
What second-trimester procedure is performed when previous investigations are non-diagnostic?
Fetal muscle and liver biopsy
63
What second-trimester procedure allows assessment of fetal arterial oxygen tension (PaO₂), carbondioxide tension (PCO₂), and pH?
Cordocentesis
64
Mid-trimester amniocentesis is preceded by _______ to evaluate genetic risks and _____ to estimate gestation, placental location and amount of amniotic fluid.
Genetic counselling; detailed ultrasonography
65
Fetal arterial oxygen tension, carbon dioxide tension, and pH can be assessed by?
Cordocentesis
66
What types of disorders can fetal cells from amniotic fluid in mid-trimester amniocentesis be analyzed for?
Chromosomal and genetic disorders
67
What does late chorionic villus sampling allow?
Karyotyping with small amounts of placental tissue
68
Which procedures have improved the efficiency, accuracy and promptness of mid-trimester amniocentesis?
Polymerase Chain Reaction (PCR) and Fluorescence In Situ Hybridization (FISH)
69
List five complications of mid-trimester amniocentesis.
Pregnancy loss, Amniotic fluid leakage, Amnionitis, Rh iso-immunization, Mosaicism on cytogenetic analysis
70
What is the amount of amniotic fluid aspirated in early amniocentesis and mid-trimester amniocentesis?
1ml/week in early amniocentesis; 20-30ml in mid-trimester amniocentesis
71
Cordocentesis is performed under ______.
Ultrasonographic guidance
72
What gauge of needle is used in cordocentesis?
20- to 27-gauge needle
73
What gauge of needle is used for early amniocentesis?
22-gauge needle
74
Approaches in cordocentesis are _____ or ____ depending on ______
Trans-placental or trans-amniotic depending on placental position
75
*What is another name for cordocentesis?
Fetal blood sampling
76
Additional advantage of cordocentesis is that it allows _______
Assessment of fetal arterial oxygen tension (PaO₂), carbondioxide tension (PCO₂), and pH
77
List six complications of cordocentesis.
Fetal loss, Preterm labor, Hematoma of umbilical cord and placental abruption, Chorioamnionitis, Fetal exsanguination (loss of excess blood from the procedure site), Rh iso-immunization.
78
What is the advantage of late chorionic villus sampling?
As accurate as amniocentesis and provides rapid results
79
What is the purpose of fetal muscle and liver biopsy?
Performed when previous investigations are non-diagnostic
80
What is the purpose of third-trimester procedures?
To confirm fetal growth, well-being, and lung maturity, as well as to evaluate for infection
81
Which third trimester procedure uses Doppler ultrasound or electrodes on maternal abdomen/fetal scalp?
Non-stress Test (NST)
82
Third trimester procedure that monitors fetal heart rate in response to uterine contractions?
Contraction Stress Test
83
Amniotic fluid volume (AFV), fetal breathing movements, fetal activity, fetal muscle tone, and non-stress test are assessed in which third trimester procedure?
Biophysical Profile Test
84
In which third trimester procedure is fetal umbilical arterial blood flow velocity or resistance to flow assessed?
Doppler Study
85
Which third-trimester procedure is for measurement of pulmonary surfactant and surface-active phospholipids?
Amniocentesis
86
Which third trimester procedure is effective in diagnosing CNS, Genitourinary system (GUS), thoracic and skeletal anomalies?
Ultrasonography
87
False results in amniocentesis occur due to ______, ______, or ______.
Diabetic mother, blood or meconium contamination, intrauterine asphyxia
88
Which third trimester procedure measures Crown-rump length (CRL), Biparietal diameter (BPD), Femur length (FL) and Abdominal circumference?
Ultrasonography
89
Which third trimester procedure is better imaging technique in oligohydramnios?
Magnetic Resonance Imaging
90
Which third trimester procedure delineates fetal bony anatomy best?
Computed Tomography (CT)
91
Which third trimester procedure is an adjunct to USS?
Magnetic Resonance Imaging (MRI)
92
Which imaging technique may induce cancer with use in pregnancy?
Computed Tomography (CT)
93
Amniocentesis in the third trimester is used to measure ______ and ______.
Pulmonary surfactant and surface-active phospholipids
94
Which procedure is most popular and widely used?
Ultrasonography
95
What anomalies can ultrasonography detect?
CNS, GUS, thoracic, and skeletal anomalies
96
MRI is not reliable before ____ weeks
20 weeks
97
Three features of MRI
No ionizing radiation, larger view, intracranial imaging
98
CT has limited applications in _______
Prenatal diagnosis
99
What are the risks associated with CT in pregnancy?
Suspected teratogenic effect in the first trimester and a risk of cancer induction
100
Non-invasive means of monitoring fetal cardiac function?
Fetal Magnetocardiography
101
List four modified interventions made possible by prenatal diagnosis.
Elective cesarean section, preterm delivery, prenatal medication, invasive surgery
102
Folic acid is used as a therapy for _____
Neural tube defects (NTDs)
103
What prenatal medication is used for replacement therapy (to replace enzyme) in congenital adrenal hyperplasia CAH?
Dexamethasone
104
Maternal condition thyrotoxicosis and hyperthyroidism are treated with _____ and ____ respectively
Propylthiouracil & Iodine
105
Propylthiouracil is used to treat what maternal condition during pregnancy?
Thyrotoxicosis
106
Maternal HIV is treated with ______ used from ______ to ______.
Zidovudine; 14th IUW to 6th PNW
107
Which drug is used for enzyme reactivation in carboxylase deficiency?
Biotin
108
What is used to accelerate fetal organ (lung) maturation?
Steroids
109
What therapy is used to correct iso-immunization?
Prenatal transfusion
110
Fetal hematopoietic stem cell transplantation done before ______ week is mainly used for _____
14th gestational week; Hemoglobinopathies and thalassemia
111
Which technique made correction of congenital heart disease possible?
Echocardiographic techniques
112
Balloon valvuloplasty in utero is used for?
Aortic or pulmonary stenosis
113
Which drugs are used to treat fetal arrhythmias in utero?
Digoxin and Propranolol
114
Three echocardiographic techniques used for correction of congenital heart disease.
Prenatal surgery catheterization, Umbilical vessel catheterization and balloon valvuloplasty in utero (for aortic or pulmonary astenosis), Monitoring and treatment in fetal arrhythmias with digoxin, propranolol
115
Biotin is used for enzyme reactivation in ______ deficiency
Carboxylase deficiency
116
Safety of mother and fetus, prevention of maternal hypoxia and hypotension, and maintenance of optimal uterine flow are the goals of ____
Anesthesia
117
Surgical fetal procedures are generally performed in ______ trimester
The second trimester
118
Why are fetal procedures generally performed in the second trimester?
To avoid potential teratogenicity from anesthetic agents
119
What two drugs are used to stop uterine contractions stimulated by uterine incision?
Indomethacin, Magnesium sulphate
120
What six maternal parameters must be monitored intraoperatively and postoperatively?
Myometrial contractions, intrauterine pressures, blood pressure, ECG, pulse and blood gas levels
121
Fetal intraoperative and postoperative monitoring during fetal surgery includes?
Pulse oximetry, heart rate, blood gases, temperature, and ECG
122
What is the expected fetal oxygen saturation range on pulse oximetry?
50–60% saturation
123
Which intraoperative and postoperative monitoring is used in fetoscopic surgery?
Ultrasonographic monitoring
124
What are three approaches to fetal surgery?
Ultrasound guided surgery, Fetoscopic surgery, Open surgery
125
Ultrasound-guided fetal surgery is used in what condition?
Thoracoamniotic shunt placement in recurrent pleural effusion
126
Fetoscopic surgery is used for _____ in what condition?
Used in photocoagulation of communicating vessel in twin-to-twin transfusion syndrome
127
Amniotic band syndrome can be treated using what fetal surgery approach?
Fetoscopic surgery
128
Open surgery for _____ is done between 24 and 30 weeks
Myelomeningocele
129
Open surgery in used in _______ by tracheal occlusion
Congenital diaphragmatic hernia
