Congenital Abnormalities - PowerPoint Presentation

Slide1

Congenital Abnormalities

Tsepamo

Study

Health Care Professionals TrainingSlide2

Congenital Abnormality (CA)

Also known as…

“Birth Defect”

“Congenital Defect”

“Congenital Anomaly”

“Congenital Malformation”Slide3

Important Cause of Neonatal DeathsSlide4

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)Slide5

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, ?

EnalaprilSlide6

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!Slide7

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 femaleSlide8

First Month of DevelopmentSlide9

Second Month of DevelopmentSlide10

Third Month of DevelopmentSlide11

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 DevelopSlide12

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 brainSlide13

Fingers and Toes

Polydactaly

(an EXTRA Finger or toe)Slide14

Fingers and Toes

Syndactaly

(fingers or toes merged together)Slide15

Fingers and Toes

Hypoplastic

(very very small) fingers and toesSlide16

Legs and Arms

Club Foot (

Talipes

)Slide17

Legs and Arms

Amelia: Complete absence of a limbSlide18

Legs and arms

Phocomelia

: Absence of a limb but hand or foot presentSlide19

Genital Organs

Hypospadius

(opening in the penis for the urethra at an

unsual

site)Slide20

Genital Organs

Ambiguous

GenetaliaSlide21

Genital Organs

Imperforate Anus (no hole at the rectum)Slide22

Stomach Wall

GastroscehsisSlide23

GastroschesisSlide24

Abdominal Wall

OmphalmoceleSlide25

OmphalmoceleSlide26

Mouth And Palate

Cleft LipSlide27

Mouth and Palate

Cleft Lip and PalateSlide28

HydrocephalusSlide29

Neural Tube DefectsSlide30

Closed Spina

BifidaSlide31

Open Spina

BifidaSlide32

EncephaloceleSlide33

AnencephalySlide34

Severe Facial DefectsSlide35

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)Slide36

Infant Surface Exams: Procedures, Source Documents, Photos, and eCRFs

Study-Specific Training

May

2017Slide37

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 anomaliesSlide38

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Infant Exam at Delivery VisitSlide39

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

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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 anomaliesSlide43

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 possibleSlide44

Procedures

Who will take photographs at your site?Slide45

Documentation

All exam findings should be source documentedSlide46

Documentation

Neck

Chest

Abdomen

&

Anus

Face

(including mouth)

Arms, legs, fingers, & toes

Hips

&

Genitalia

Skin

Physical Appearance

Length

Weight

Head

(including fontanels & circumference)

SpineSlide47

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 standardsSlide48

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 AnomaliesSlide49

Entering into the databaseSlide50

Entering into the databaseSlide51

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)Slide52

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”Slide53

1. During the surface exam, the site clinician identifies polydactyly.

This should be source documented.

True

False

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0 of 44Slide54

1. During the surface exam, the site clinician identifies polydactyly.

This should be entered into eCRFs.

True

False

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True

False

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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.Slide56

Yes

No

Maybe

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.

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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

MaybeSlide58

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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 onlySlide60

Privacy and Confidentiality

How will your site maintain privacy and confidentiality of infants who are photographed?Slide61

Privacy and Confidentiality

Does your site IRB/EC mandate

a separate form for obtaining informed consent for photographs?Slide62

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.”Slide63

What are your questions about Infant Surface Exams?

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