1. Congenital Abnormalities
Tsepamo Study
Health Care Professionals Training

2. Congenital Abnormality (CA)
Also known as…
“Birth Defect”
“Congenital Defect”
“Congenital Anomaly”
“Congenital Malformation”

3. Important Cause of Neonatal Deaths

4. What is a CA?
Structural (the way the body looks) OR Functional (the way the body performs) abnormalities that are present at the time of birth
Structural abnormalities can be external (outside the body) or internal (inside the body)

5. Why do CAs Occur? About 50% of the time, UNKNOWN reason!
Genetics: Runs in the family or consanguinity
Infections: Syphilis and Rubella
Nutritional Deficiencies: iodine, folate
Maternal Health: obesity, diabetes, cancer therapy, hypothyroid
Exposures: Alcohol, Smoking, Cocaine
Exposures: Pesticides, waste dumps, mines
Medications: Epilepsy drugs, ?Efavirenz, ?Cotrimoxazole, ?Fluconazole, ?Tetracycline, ?Enalapril

6. Why do CAs Occur? Remember, it’s never 100%
Even with known exposure to chemicals, maternal conditions, infections only a SMALL % of these babies go on to develop abnormalities
We don’t know why some do and some don’t!

7. When do Abnormalities Occur?
Early Fetal Development is when most develop:
FIRST TWO MONTHS:
Cells Multiply
Internal Organs begin to develop
Heart starts to beat
Third Month:
Nostrils, mouth, lips, teeth buds, and eyelids form
Fingers and toes are almost complete
Eyelids are fused shut
Arms, legs, fingers, and toes have developed
All internal organs are present—but aren’t ready to function
The genital organs can be recognized as male or female

8. First Month of Development

9. Second Month of Development

10. Third Month of Development

11. Later Development
By the end of the second trimester (27 weeks) most all of the organs have developed and are now just growing
Brain continues to develop
Few Congenital Abnormalities Develop

12. Where are the common CAs?
Those that can be seen on newborn exam
Fingers, Toes, Arms, Legs
Genital Organs
Stomach Wall
Mouth (Lip and Palate)
Head and Spine
Those that can’t be seen on newborn exam
Heart Defects
Defects of the kidneys
Defects in the brain

13. Fingers and Toes
Polydactaly (an EXTRA Finger or toe)

14. Fingers and Toes
Syndactaly (fingers or toes merged together)

15. Fingers and Toes
Hypoplastic (very very small) fingers and toes

16. Legs and Arms
Club Foot (Talipes)

17. Legs and Arms
Amelia: Complete absence of a limb

18. Legs and arms
Phocomelia: Absence of a limb but hand or foot present

19. Genital Organs
Hypospadius (opening in the penis for the urethra at an unsual site)

20. Genital Organs
Ambiguous Genetalia

21. Genital Organs
Imperforate Anus (no hole at the rectum)

22. Stomach Wall
Gastroscehsis

23. Gastroschesis

24. Abdominal Wall
Omphalmocele

25. Omphalmocele

26. Mouth And Palate
Cleft Lip

27. Mouth and Palate
Cleft Lip and Palate

28. Hydrocephalus

29. Neural Tube Defects

30. Closed Spina Bifida

31. Open Spina Bifida

32. Encephalocele

33. Anencephaly

34. Severe Facial Defects

35. There are many, many more
But fortunately very rare
We are happy to provide advice for diagnosis or clinical management
Contact Modiegi (Head Research Nurse Midwife)
Dr. Makone (pediatrician at PMH)

36. Infant Surface Exams: Procedures, Source Documents, Photos, and eCRFs
Study-Specific Training May 2017

37. Purpose
To establish each infant’s physical condition at the Delivery Visit (as soon as possible after birth)
To complete a systematic and standardized assessment for congenital anomalies

38. Infant Exam at Delivery Visit
This slide highlights the physical examination performed for infants at the Delivery Visit

39. Procedures
Per protocol Section 6.16, complete exams are required at the Delivery Visit
Newborn step-wise surface exam is a required part of the complete exam
This slide highlights the physical examination performed for infants at the Delivery Visit and shows procedural text from protocol Section 6.16 related to these exams.
A “newborn step wise surface examination” is required at this visit, with the expectation that WHO standard procedures for performing these exams will be followed at all sites.
The protocol provides a web site for more information and on the next slide we have a snapshot of this website.

40. This is what the website looks like

41. And on this slide we are showing more of a close-up view of the training video available on the website. All clinicians who will be involved in performing these exams should watch this video in preparation for other study-specific training to come.

42. Procedures
All elements of the surface exam should be performed for purposes of assessing for congenital anomalies, with the exception of:
Intra-oral system
Cardiac system
Genitourinary system
These should be included in the general exam but will not be routinely assessed for presence of congenital anomalies

43. Procedures
If any potential congenital anomalies are identified on examination of any body system, these should be photographed by the examining clinician and a site pediatrician should ideally examine the infant as soon as possible

44. Who will take photographs at your site?
Procedures
Who will take photographs at your site?

45. All exam findings should be source documented
Documentation
All exam findings should be source documented
Speaker can say that the sample source document is intended for use at the delivery visit to capture all aspects of the Complete Physical Exam required per protocol, which includes the newborn surface exam as well as other exam components (auscultation of chest, neurologic assessment).

46. Documentation Head (including fontanels & circumference)
Physical Appearance
Length
Weight
Face (including mouth)
Abdomen & Anus
Neck
Chest
Hips & Genitalia
Arms, legs, fingers, & toes
Spine
Skin

47. Documentation At the Delivery Visit and all infant visits
Length, weight, and head circumference should be charted on standard infant growth charts and
Weight-for-length should be assessed in relation to WHO growth standards

48. Entering into the database
Any suspected congenital anomaly in any body system should be entered into eCRFs
ADE10002, Adverse Events Log
DXW10000, IMPAACT 2010 Congenital Anomalies

49. Entering into the database
We can defer detailed discussion of AE reporting to Day 3, but state that, per protocol Section 7.2.2, all suspected congenital anomalies must be reported on Adverse Event eCRFs
If anyone brings up EAE reporting, can use that as an opportunity to look protocol Section

50. Entering into the database

51. Entering into the database
DXW10000: Congenital Anomalies
Provide a detailed narrative about the anomaly
Enter the date the anomaly was first identified
Indicate the number of photographs uploaded to the File Exchange Utility (on FSTRF portal)
Emphasize to include all available descriptive information in the narrative (no issues with number of characters allowed to be entered)

52. Entering into the database
Photos will be securely uploaded to the DMC to permit review and evaluation by the CMC (including an expert on birth defects)
Descriptive data and photos will be reviewed in near real time to determine whether the abnormality meets the protocol definition of “major congenital anomaly”

53. 1. During the surface exam, the site clinician identifies polydactyly
1. During the surface exam, the site clinician identifies polydactyly. This should be source documented.
True
False
0 of 44

54. 1. During the surface exam, the site clinician identifies polydactyly
1. During the surface exam, the site clinician identifies polydactyly. This should be entered into eCRFs.
True
False
Should we again clarify which eCRFs?

55. 2. A suspected cardiac congenital anomaly is identified by an attending clinician in the hospital where the infant was born. This anomaly should be source documented.
True
False
I like this series of slides – let’s just check with Shahin to make sure they are right. I never really understood the wording about the “exceptions” this in protocol Section 6.16.

56. 2. A suspected cardiac congenital anomaly is identified by an attending clinician in the hospital where the infant was born. This anomaly should be entered into eCRFs.
Yes No
Maybe
Should we also specify which eCRF we are talking about? DXW10000 versus Adverse Event Log?

57. 2. A suspected cardiac congenital anomaly is identified by an attending clinician in the hospital where the infant was born. This anomaly should be entered into eCRFs.
Yes No
Maybe

59. Privacy and Confidentiality
If any photographs are taken, standard precautions will be followed to protect participant privacy and confidentiality
Photographs that may be transmitted off-site will be identified by PID only
Protocol Section 12.7

60. Privacy and Confidentiality
How will your site maintain privacy and confidentiality of infants who are photographed?
Protocol Section 12.7

61. Privacy and Confidentiality
Does your site IRB/EC mandate a separate form for obtaining informed consent for photographs?
Protocol Section 12.7

62. Privacy and Confidentiality
“If we take photos of abnormalities seen when your baby is examined, we will not photograph your baby’s face unless the abnormality is on the face. In that case, we will make every effort to hide details that could identify your baby. Photos will be labeled only with a code number (not with your or your baby’s name). Photos will be kept securely with other information collected for the study. Photos also may be shared with other doctors working on the study. The other doctors may be here at [site name] or in other countries. These doctors will not be given your or your baby’s name, and they will be required to keep the photos private and confidential. When the study is completed, the photos will be destroyed.”
From sample ICF, Item 24 “There could be risks of disclosure of your and your baby’s information”

63. What are your questions about Infant Surface Exams?